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Gene: Hpse2 MGI:2685814

Gene Summary

Name:

heparanase 2

Synonyms:

N/A

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
preweaning lethality, incomplete penetrance	Hpse2^em1(IMPC)J	HOM	Early adult	0.00
cataract	Hpse2^em1(IMPC)J	HET	Early adult	1.91×10^-06
hyperactivity	Hpse2^em1(IMPC)J	HET	Early adult	9.65×10^-05
impaired pupillary reflex	Hpse2^em1(IMPC)J	HET	Early adult	1.94×10^-07

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

8 Images

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X-ray

XRay Images Skull Lateral Orientation

8 Images

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MicroCT E18.5

Embryo reconstruction

6 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

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X-ray

XRay Images Forepaw

8 Images

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

6 Images

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Human diseases caused by Hpse2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Hpse2 (2 diseases)
Human diseases predicted to be associated with Hpse2 (1249 diseases)

The table below shows human diseases associated to Hpse2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Ochoa Syndrome		Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Bowel incontinence...	ORPHA:2704
Urofacial Syndrome 1		Recurrent urinary tract infections, Urethral valve, Hydroureter, Urethral obstruction, Enuresis, ...	OMIM:236730

The table below shows human diseases predicted to be associated to Hpse2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Schizophrenia 15	Hyperactivity	OMIM:613950
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Cataract 29	Cataract	OMIM:115800
Urofacial Syndrome 2	Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti...	OMIM:615112
Gilles De La Tourette Syndrome	Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,...	OMIM:137580
Cataract 4, Multiple Types	Developmental cataract	OMIM:115700
Cataract 13 With Adult I Phenotype	Developmental cataract	OMIM:116700
Cataract 37	Developmental cataract	OMIM:614422
Cataract 45	Developmental cataract	OMIM:616851
Cataract 38	Developmental cataract	OMIM:614691
Primary Hyperoxaluria Type 3	Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri...	ORPHA:93600
Acquired Central Diabetes Insipidus	Pollakisuria, Weight loss	ORPHA:95626
Focal Segmental Glomerulosclerosis 6	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr...	OMIM:614131
Nephrotic Syndrome, Type 15	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ...	OMIM:617609
Primary Membranoproliferative Glomerulonephritis	Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot...	ORPHA:54370
Nephrotic Syndrome, Type 2	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:600995
Interstitial Cystitis	Abnormality of the urethra, Urinary bladder inflammation, Functional abnormality of the bladder, ...	ORPHA:37202
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Nephrotic Syndrome, Type 7	Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Podocyte foot p...	OMIM:615008
Hypertrophic Neuropathy And Cataract	Cataract	OMIM:239900
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Nephrotic Syndrome, Type 9	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,...	OMIM:615573
Cochleosaccular Degeneration With Progressive Cataracts	Progressive cataract	OMIM:120040
Adrenomyodystrophy	Short stature, Megacystis, Abnormality of the urinary system, Abnormal intestine morphology, Fail...	ORPHA:977
Visceral Myopathy 2	Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr...	OMIM:619350
Pentosuria	Abnormal urine carbohydrate level, Abnormal circulating carbohydrate concentration, Abnormality o...	ORPHA:2843
X-Linked Spastic Paraplegia Type 16	Functional abnormality of the bladder, Functional abnormality of the gastrointestinal tract	ORPHA:100997
Lower Urinary Tract Obstruction, Congenital	Urinary incontinence, Urethral stenosis, Pollakisuria, Congenital posterior urethral valve, Vesic...	OMIM:618612
Spastic Paraplegia 13, Autosomal Dominant	Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence	OMIM:605280
Coenzyme Q10 Deficiency, Primary, 3	Nephrotic syndrome, Proteinuria, Hypoalbuminemia	OMIM:614652
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Rod-cone dystrophy, Cataract	OMIM:300719
Spastic Paraplegia 12, Autosomal Dominant	Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence	OMIM:604805
Spastic Paraplegia 19, Autosomal Dominant	Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence	OMIM:607152
Spastic Paraplegia 8, Autosomal Dominant	Low back pain, Urinary incontinence, Urinary urgency, Dysphagia, Urinary bladder sphincter dysfun...	OMIM:603563
Fibronectin Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Hypoalbuminemia, Abnormal g...	ORPHA:84090
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Sma...	OMIM:256300
Hyperprolinemia Type 1	Nephropathy, Hyperprolinemia, Proteinuria, Prolinuria	ORPHA:419
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Hyperactivity	DECIPHER:19
Foveal Hypoplasia-Presenile Cataract Syndrome	Cataract, Optic atrophy	ORPHA:2253
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Short stature, Polyuria, Megacystis, Hypernatremia, Failure to thrive	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Short stature, Polyuria, Megacystis, Hypernatremia, Failure to thrive	OMIM:304800
Galloway-Mowat Syndrome 6	Proteinuria, Short stature, Growth delay, Nephrotic syndrome, Focal segmental glomerulosclerosis,...	OMIM:618347
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Galactosemia I	Increased level of galactitol in plasma, Albuminuria, Aminoaciduria, Galactosuria, Increased leve...	OMIM:230400
Autosomal Recessive Spastic Paraplegia Type 48	Urinary bladder sphincter dysfunction, Urinary incontinence, Elevated circulating creatine kinase...	ORPHA:306511
Spastic Paraplegia 37, Autosomal Dominant	Urinary urgency, Urinary incontinence	OMIM:611945
Lipoprotein Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity	OMIM:611771
Galloway-Mowat Syndrome 8	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome...	OMIM:618349
Spastic Paraplegia 41, Autosomal Dominant	Urinary urgency	OMIM:613364
Autosomal Dominant Spastic Paraplegia Type 13	Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence	ORPHA:100994
Optic Atrophy 3, Autosomal Dominant	Tremor, Optic disc pallor, Cataract, Optic atrophy	OMIM:165300
Cerebroretinal Microangiopathy With Calcifications And Cysts 3	Gastrointestinal hemorrhage, Intrauterine growth retardation, Urinary incontinence	OMIM:620368
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Proteinuria, Chronic Benign	Albuminuria, Renal insufficiency, Proteinuria	OMIM:618884
Foveal Hypoplasia 1	Hypoplasia of the fovea, Presenile cataracts	OMIM:136520
Spastic Paraplegia 83, Autosomal Recessive	Urinary urgency, Myalgia, Dysphagia	OMIM:619027
Focal Segmental Glomerulosclerosis 1	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:603278
Enuresis, Nocturnal, 1	Enuresis nocturna	OMIM:600631
Enuresis, Nocturnal, 2	Enuresis nocturna	OMIM:600808
Intellectual Developmental Disorder, Autosomal Recessive 3	Hyperactivity	OMIM:608443
Nephrotic Syndrome, Type 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru...	OMIM:610725
3-Methylglutaconic Aciduria Type 9	Failure to thrive, 3-Methylglutaconic aciduria, Slender build, Urinary incontinence	ORPHA:505216
Spastic Paraplegia 36, Autosomal Dominant	Urinary urgency, Urinary incontinence	OMIM:613096
Spastic Paraplegia 27, Autosomal Recessive	Spastic/hyperactive bladder	OMIM:609041
Cataract 12, Multiple Types	Progressive cataract, Developmental cataract	OMIM:611597
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency	Urinary bladder sphincter dysfunction	ORPHA:284282
X-Linked Retinoschisis	Retinoschisis, Cataract	ORPHA:792
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cataract, Chorioretinal coloboma	OMIM:274205
Spastic Paraplegia 6, Autosomal Dominant	Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence	OMIM:600363
Autosomal Recessive Spastic Paraplegia Type 9B	Short stature, Growth delay, Pollakisuria, Impaired continence, Urinary retention	ORPHA:447760
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Bruxism, Aggressive behavior	OMIM:615493
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:614199
Spastic Paraplegia 3, Autosomal Dominant	Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence	OMIM:182600
Spastic Paraplegia, Ataxia, And Mental Retardation	Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence	OMIM:607565
Hydrocephaly-Cerebellar Agenesis Syndrome	Cataract	ORPHA:1397
Intellectual Developmental Disorder, Autosomal Dominant 33	Hyperactivity, Chorioretinal degeneration	OMIM:616311
Diarrhea 7, Protein-Losing Enteropathy Type	Villous atrophy, Abdominal colic, Hyperlipidemia, Hypoalbuminemia, Protein-losing enteropathy, Hy...	OMIM:615863
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Recurrent urinary tract infections, Hypoperistalsis, Fetal pyelectasis, Megacystis, Nephrolithiasis	OMIM:619365
3-Methylglutaconic Aciduria, Type Ix	Urinary incontinence, 3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, High palate, Failur...	OMIM:617698
Spastic Paraplegia-Nephritis-Deafness Syndrome	Nephropathy, Severe short stature, Proteinuria	ORPHA:2820
Spastic Paraparesis And Deafness	Tremor, Cataract	OMIM:312910
Intellectual Developmental Disorder, X-Linked 29	Urinary incontinence	OMIM:300419
Spinocerebellar Ataxia 48	Urinary incontinence, Cachexia, Dysphagia	OMIM:618093
Autosomal Recessive Spastic Paraplegia Type 27	Spastic/hyperactive bladder	ORPHA:101007
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Bruxism, Aggressive behavior	ORPHA:356996
Siddiqi Syndrome	Urinary incontinence	OMIM:618635
Nail-Patella-Like Renal Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Short stature, Microscopic hematuria	ORPHA:2613
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ...	OMIM:161900
Spastic Paraplegia 4, Autosomal Dominant	Urinary urgency, Low back pain, Urinary bladder sphincter dysfunction, Urinary incontinence	OMIM:182601
Autosomal Dominant Spastic Paraplegia Type 4	Urinary urgency, Urinary bladder sphincter dysfunction	ORPHA:100985
Aldh18A1-Related De Barsy Syndrome	Cataract	ORPHA:35664
Trichomegaly	Cataract	OMIM:190330
Iris Pigment Layer, Cleavage Of	Cataract, Peripheral retinal detachment	OMIM:147610
Glomerulopathy With Fibronectin Deposits 2	Renal insufficiency, Proteinuria, Glomerular deposits, Glomerulomegaly, Stage 5 chronic kidney di...	OMIM:601894
Spastic Paraplegia 72, Autosomal Recessive	Urinary bladder sphincter dysfunction	OMIM:615625
Preeclampsia	Helicobacter pylori infection, Increased body mass index, Proteinuria, Abnormality of the kidney,...	ORPHA:275555
Autosomal Dominant Spastic Paraplegia Type 9A	Low back pain, Urinary incontinence, Urinary urgency, Pollakisuria, Lower limb pain	ORPHA:447753
Spastic Paralysis, Infantile-Onset Ascending	Urinary incontinence, Dysphagia	OMIM:607225
Nephrotic Syndrome, Type 17	Proteinuria, Short stature, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, M...	OMIM:618176
Glomerulopathy With Fibronectin Deposits 1	Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru...	OMIM:137950
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome	Cataract	ORPHA:73245
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foamy urine, Proteinuria, ...	ORPHA:567548
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Pollakisuria, Elevated circulating creatine kinase concentration, Dysphagia	ORPHA:268
Spastic Paraplegia 10, Autosomal Dominant	Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence	OMIM:604187
Acute Zonal Occult Outer Retinopathy	Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal...	ORPHA:284454
Nephrotic Syndrome, Type 8	Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,...	OMIM:615244
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn...	OMIM:616730
Autosomal Dominant Spastic Paraplegia Type 73	Urinary urgency, Urinary incontinence	ORPHA:444099
Spastic Paraplegia 31, Autosomal Dominant	Urinary urgency, Dysphagia	OMIM:610250
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Short stature, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal seg...	OMIM:308990
Spastic Paraplegia 29, Autosomal Dominant	Urinary incontinence, Hiatus hernia, Urinary hesitancy, Urinary urgency, Neonatal hyperbilirubine...	OMIM:609727
3-Methylglutaconic Aciduria, Type I	Failure to thrive, 3-Methylglutaconic aciduria, Urinary incontinence	OMIM:250950
Multiple Sclerosis, Susceptibility To	Urinary hesitancy, Urinary incontinence	OMIM:126200
Autosomal Spastic Paraplegia Type 72	Pain, Urinary bladder sphincter dysfunction	ORPHA:401849
Autosomal Recessive Spastic Paraplegia Type 76	Functional abnormality of the bladder	ORPHA:488594
Spastic Paraplegia 11, Autosomal Recessive	Urinary incontinence, Obesity, Urinary urgency, Dysphagia, Urinary bladder sphincter dysfunction	OMIM:604360
Visceral Myopathy 1	Aganglionic megacolon, Intestinal pseudo-obstruction, Abdominal pain, Microcolon, Megacystis, Uri...	OMIM:155310
Preeclampsia/Eclampsia 1	Intrauterine growth retardation, Proteinuria	OMIM:189800
Congenital Disorder Of Glycosylation, Type Ib	Villous atrophy, Renal cyst, Proximal tubulopathy, Hypoalbuminemia, Protein-losing enteropathy, S...	OMIM:602579
Autosomal Recessive Frontotemporal Pachygyria	Urinary incontinence	ORPHA:329329
Spastic Paraplegia 16, X-Linked	Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence	OMIM:300266
Diarrhea 13	Recurrent hypoglycemia, Failure to thrive, Hypoalbuminemia	OMIM:620357
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Pudendal Neuralgia	Back pain, Abdominal colic, Anal canal adenocarcinoma, Dysuria, Vulvodynia, Episodic abdominal pa...	ORPHA:60039
Homozygous 11P15-P14 Deletion Syndrome	Hypoglycemia, Hyperinsulinemia, Generalized aminoaciduria, Renal tubular dysfunction, Abnormal in...	OMIM:606528
Baralle-Macken Syndrome	High, narrow palate, Urinary incontinence, Obesity	OMIM:619255
Sandhoff Disease, Juvenile Form	Failure to thrive, Urinary incontinence, Dysphagia	ORPHA:309162
Reni Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Hypoglycemia, Mesangial hypercell...	OMIM:617575
Pupillary Membrane, Persistence Of	Developmental cataract, Megalocornea, Persistent pupillary membrane	OMIM:178900
Maternally-Inherited Diabetes And Deafness	Glomerulopathy, Renal insufficiency, Proteinuria, Malabsorption, Myalgia, Type II diabetes mellit...	ORPHA:225
Autosomal Dominant Spastic Paraplegia Type 6	Urinary incontinence	ORPHA:100988
Alg1-Cdg	Abnormality of the gastrointestinal tract, Renal insufficiency, Abnormality of the kidney, Nephro...	ORPHA:79327
Iga Nephropathy, Susceptibility To, 2	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Arthralgia, Nephritis, IgA deposition in ...	OMIM:613944
Cataract 50 With Or Without Glaucoma	Retinal detachment, Cataract, Persistent pupillary membrane	OMIM:620253
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Autosomal Dominant Spastic Paraplegia Type 36	Urinary urgency, Urinary incontinence	ORPHA:320365
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Abdomin...	ORPHA:656
Nathalie Syndrome	Cataract	ORPHA:2663
Cholestasis, Progressive Familial Intrahepatic, 10	Short stature, Conjugated hyperbilirubinemia, Acholic stools, Hypoalbuminemia, Increased serum bi...	OMIM:619868
Al Amyloidosis	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Renal insufficiency, Incr...	ORPHA:85443
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Proteinuria, Abnormality of the kidney, Short stature, Hypoglycemia, Hyperlipidemia, Growth delay...	ORPHA:369
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Proteinuria, Short stature, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechog...	OMIM:611555
Lipodystrophy, Partial, Acquired, Susceptibility To	Membranoproliferative glomerulonephritis, Proteinuria, Diabetes mellitus, Hematuria, Nephrotic sy...	OMIM:608709
Atresia Of Urethra	Renal dysplasia, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, Bladder fi...	ORPHA:105
Hematuria, Benign Familial, 2	Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology	OMIM:620320
Glutathionuria	Urinary incontinence, Glutathionuria	OMIM:231950
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:616032
Wagner Vitreoretinopathy	Cataract, Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioreti...	OMIM:143200
Bardet-Biedl Syndrome 18	Rod-cone dystrophy, Cataract, Retinal dystrophy	OMIM:615995
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:301028
Morm Syndrome	Hyperactivity, Cataract, Retinal dystrophy, Retinal atrophy, Aggressive behavior	ORPHA:75858
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the...	OMIM:617319
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis	ORPHA:1068
Retinitis Pigmentosa 40	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blo...	OMIM:613801
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal...	ORPHA:93110
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hydroureter, Intestinal malrotation, Megacystis, Hydronephrosis, Microcolon	OMIM:619431
Nephrotic Syndrome, Type 23	Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome...	OMIM:619201
Fragile X-Associated Tremor/Ataxia Syndrome	Bowel incontinence, Pollakisuria, Myalgia, Dysphagia, Urinary bladder sphincter dysfunction	ORPHA:93256
Spastic Paraplegia 85, Autosomal Recessive	Urinary incontinence, Dysphagia	OMIM:619686
Spastic Paraplegia 76, Autosomal Recessive	Urinary incontinence	OMIM:616907
Coats Disease	Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri...	ORPHA:190
Immunoneurologic Disorder, X-Linked	Functional abnormality of the bladder, Small for gestational age	OMIM:300076
Insulin-Resistance Syndrome Type B	Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy...	ORPHA:2298
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydroureter, Microcolon, Megacystis, Fetal megacystis, Hydronephrosis	OMIM:619362
Iga Nephropathy, Susceptibility To, 3	Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio...	OMIM:616818
Focal Segmental Glomerulosclerosis 2	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl...	OMIM:603965
Nephrotic Syndrome, Type 16	Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis	OMIM:617783
Glycogen Storage Disease Xi	Increased serum pyruvate, Exercise intolerance, Renal insufficiency, Elevated circulating creatin...	OMIM:612933
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Cataract	ORPHA:79281
3-Methylglutaconic Aciduria Type 1	Failure to thrive, 3-Methylglutaconic aciduria, Hypoglycemia	ORPHA:67046
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
Basal Ganglia Calcification, Idiopathic, 1	Abnormal circulating calcium concentration, Urinary incontinence	OMIM:213600
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Colitis, Podocyte foot proces...	OMIM:617006
Cholestasis, Progressive Familial Intrahepatic, 12	Short stature, Proteinuria, Conjugated hyperbilirubinemia, Increased serum bile acid concentratio...	OMIM:620010
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Abnormality of the gastrointestinal tract, Multicystic kidney dysplasia, Hydroureter, Intestinal ...	ORPHA:2241
Idiopathic Achalasia	Weight loss, Chest pain, Gastroesophageal reflux, Dysphagia, Decreased prealbumin level	ORPHA:930
Megalocornea	Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris...	OMIM:309300
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Chylomicron Retention Disease	Failure to thrive, Accumulation of lipid droplets in small-bowel enterocytes, Decreased LDL chole...	OMIM:246700
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	OMIM:309548
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Failure to thrive, Hypoalbuminemia, Hypermethio...	OMIM:613752
Spinocerebellar Ataxia 42	Urinary urgency, Urinary incontinence, Dysphagia	OMIM:616795
Autosomal Recessive Spastic Paraplegia Type 35	Pollakisuria, Urinary incontinence, Bowel incontinence, Enuresis nocturna	ORPHA:171629
Ochoa Syndrome	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Bowel incontinence...	ORPHA:2704
Glycogen Storage Disease X	Exercise intolerance, Renal insufficiency, Elevated circulating creatine kinase concentration, Ex...	OMIM:261670
Spastic Paraplegia 5A, Autosomal Recessive	Abnormal circulating cholesterol concentration, Urinary incontinence	OMIM:270800
Autoinflammation With Infantile Enterocolitis	Fatigue, Villous atrophy, Short stature, Elevated circulating C-reactive protein concentration, I...	OMIM:616050
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Elevated circula...	OMIM:614455
Spastic Paraplegia 48, Autosomal Recessive	Urinary incontinence	OMIM:613647
Intellectual Developmental Disorder, Autosomal Recessive 70	Urinary incontinence	OMIM:618402
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	ORPHA:100973
Metachromatic Leukodystrophy Due To Saposin B Deficiency	Urinary incontinence, Dysphagia	OMIM:249900
Nijmegen Breakage Syndrome	Anal stenosis, Short stature, Cachexia, Anorectal anomaly, Cleft palate, Pollakisuria, Anal atresia	ORPHA:647
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Flank pain, Functional abnormality of the ...	ORPHA:93108
Systemic Sclerosis	Elevated circulating creatine kinase concentration, Intestinal bleeding, Arthralgia, Gastroesopha...	ORPHA:90291
Dent Disease 2	Short stature, Elevated circulating creatine kinase concentration, Chronic kidney disease, Hyperc...	OMIM:300555
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Colitis, Hypoalbuminemia, Obesity	ORPHA:88643
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k...	OMIM:614817
Ménétrier Disease	Gastrointestinal hemorrhage, Helicobacter pylori infection, Abdominal pain, Abnormal gastric muco...	ORPHA:2494
Hyperlysinemia, Type I	Hyperactivity, Ectopia lentis	OMIM:238700
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen...	ORPHA:64753
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula...	ORPHA:730
Familial Visceral Myopathy	Hydroureter, Aganglionic megacolon, Megacystis, Cleft palate, Vesicoureteral reflux	ORPHA:2604
Hydrocephalus, Normal-Pressure, 1	Urinary incontinence, Bowel incontinence	OMIM:236690
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, We...	ORPHA:103910
Aniridia 2	Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma	OMIM:617141
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu...	OMIM:613092
Autosomal Dominant Centronuclear Myopathy	Urinary incontinence, Large for gestational age, Pyloric stenosis, Exercise-induced myalgia, Mild...	ORPHA:169189
Adenine Phosphoribosyltransferase Deficiency	Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Abdominal colic, F...	ORPHA:976
Autosomal Dominant Spastic Paraplegia Type 8	Urinary urgency, Urinary incontinence	ORPHA:100989
Duplication Of Urethra	Urethral stricture, Anuria, Urinary incontinence, Rectourethral fistula, Epispadias, Anorectal an...	ORPHA:237
Orofaciodigital Syndrome Xviii	Short stature, Urinary incontinence	OMIM:617927
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria	OMIM:607832
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Urinary incontinence	OMIM:620094
Intellectual Developmental Disorder, X-Linked 90	Enuresis, High palate, Bifid uvula	OMIM:300850
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di...	OMIM:613237
Galactosemia Iv	Cataract	OMIM:618881
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Urinary urgency, Urinary incontinence	OMIM:612319
Eosinophilic Gastroenteritis	Abnormality of the gastrointestinal tract, Elevated circulating C-reactive protein concentration,...	ORPHA:2070
Unilateral Focal Polymicrogyria	Urinary incontinence	ORPHA:268947
Congenital Lethal Erythroderma	Failure to thrive, Hypoalbuminemia, Malabsorption	ORPHA:1954
Myopia 17, Autosomal Dominant	Retinal hole, Presenile cataracts	OMIM:608367
Amyotrophic Lateral Sclerosis 5, Juvenile	Urinary incontinence	OMIM:602099
Myoglobinuria, Autosomal Dominant	Myoglobinuria, Acute kidney injury, Myalgia, Elevated circulating creatine kinase concentration	OMIM:160010
Amyotrophic Dystonic Paraplegia	Urinary incontinence, Bowel incontinence	OMIM:105300
Charcot-Marie-Tooth Disease, Type 4B3	Urinary incontinence	OMIM:615284
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ...	OMIM:614292
Distal 16P11.2 Microdeletion Syndrome	Proteinuria, Abnormality of the kidney, Renal agenesis, Aganglionic megacolon, Chronic kidney dis...	ORPHA:261222
Neuronal Intranuclear Inclusion Disease	Urinary incontinence	OMIM:603472
Iga Nephropathy, Susceptibility To, 1	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Arthralgia, Nephritis, IgA deposition in ...	OMIM:161950
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret...	OMIM:193230
Spastic Paraplegia 7, Autosomal Recessive	Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence, Dysphagia	OMIM:607259
Atypical Hemolytic Uremic Syndrome	Hematuria, Acute kidney injury, Proteinuria	ORPHA:2134
Adult Polyglucosan Body Disease	Neurogenic bladder, Urinary bladder sphincter dysfunction, Urinary incontinence	ORPHA:206583
Cherubism	Macular scar, Marcus Gunn pupil, Optic neuropathy	OMIM:118400
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Fatigue, Minimal change glomerulonephritis, Abdominal pain, Hyperlipidemia, Chronic kidney diseas...	ORPHA:567546
Myopathy, Myofibrillar, 7	Tongue atrophy, Urinary incontinence, Elevated circulating creatine kinase concentration, Bowel i...	OMIM:617114
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat...	ORPHA:567544
Congenital Nephrotic Syndrome, Finnish Type	Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Proteinuria, Abnormal renal tubule...	ORPHA:839
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem...	ORPHA:247585
Renal Hypoplasia, Bilateral	Hyponatremia, Failure to thrive, Proteinuria, Short stature, Small for gestational age, Chronic k...	ORPHA:97362
Neuropathy, Hereditary Sensory And Autonomic, Type Iib	Urinary incontinence	OMIM:613115
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Ileal atresia, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical hyperechogeni...	OMIM:619351
Stickler Syndrome Type 2	Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy	ORPHA:90654
Acquired Partial Lipodystrophy	Glomerulopathy, Proteinuria, Insulin resistance, Arthralgia, Microscopic hematuria	ORPHA:79087
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Absent pubertal growth spurt, Short stature, Urinary incontinence, Obesity	ORPHA:464282
3-Methylcrotonyl-Coa Carboxylase Deficiency	Failure to thrive in infancy, Hypoglycemia, Hyperammonemia, Abnormal circulating leucine concentr...	ORPHA:6
Glycogen Storage Disease V	Dark urine, Exercise intolerance, Elevated circulating creatine kinase concentration, Exercise-in...	OMIM:232600
Hypercalcemia, Infantile, 1	Failure to thrive, Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Weight loss, Nephroc...	OMIM:143880
Familial Renal Glucosuria	Recurrent urinary tract infections, Elevated hemoglobin A1c, Insulin resistance, Moderate postnat...	ORPHA:69076
Leber Congenital Amaurosis 2	Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino...	OMIM:204100
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria	OMIM:245900
Birdshot Chorioretinopathy	Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo...	ORPHA:179
Microphthalmia, Isolated, With Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Porphyria, Acute Intermittent	Dysuria, Urinary incontinence, Abdominal pain, Paralytic ileus, Urinary retention, Hepatocellular...	OMIM:176000
Spastic Paraplegia 9B, Autosomal Recessive	Short stature, Urinary incontinence, Growth delay, Pseudobulbar paralysis, Urinary retention	OMIM:616586
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Duplicated collecting system, Small for gestational age, Hypoglycemia, Conjugated hyperbilirubine...	OMIM:617093
Hereditary Amyloidosis With Primary Renal Involvement	Decreased HDL cholesterol concentration, Intestinal perforation, Tubulointerstitial nephritis, Ga...	ORPHA:85450
Microphthalmia, Isolated, With Cataract 1	Cataract	OMIM:156850
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hyperphosphaturia, Diabetes mellitus, Proteinuria, Hypouricemia, Short stature, Large for gestati...	OMIM:616026
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr...	OMIM:180104
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Microcornea, Rod-cone dystrophy, Cataract	OMIM:619082
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Arthralgia/arthritis, Reactive hypoglycemia, Insulin resistance, Insulin...	ORPHA:411593
Refractory Celiac Disease	Villous atrophy, Malabsorption, Abdominal pain, Hypomagnesemia, Weight loss, Arthralgia, Hypoalbu...	ORPHA:398063
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Hyperactivity, Aggressive behavior	OMIM:619031
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Small for gestational age, Elevated circulating creatine kinase concentration, Hypoglycemia, Amin...	OMIM:619055
Fanconi-Bickel Syndrome	Hyperphosphaturia, Ketonuria, Proteinuria, Hypouricemia, Malabsorption, Postnatal growth retardat...	OMIM:227810
Erythroderma, Lethal Congenital	Failure to thrive, Hypoalbuminemia	OMIM:227090
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma...	OMIM:614500
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma	OMIM:604219
Galactose Epimerase Deficiency	Growth delay, Aminoaciduria, Weight loss	ORPHA:79238
Hypoalphalipoproteinemia, Primary, 2	Corneal arcus, Cataract	OMIM:618463
Cystinosis	Fatigue, Renal insufficiency, Proteinuria, Short stature, Malabsorption, Renal tubular dysfunctio...	ORPHA:213
Leg, Absence Deformity Of, With Congenital Cataract	Progressive cataract, Optic nerve dysplasia, Developmental cataract	OMIM:246000
Chorea, Remitting, With Nystagmus And Cataract	Cataract	OMIM:601372
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Central Diabetes Insipidus	Hyponatremia, Failure to thrive, Nocturia, Weight loss	ORPHA:178029
Faciodigitogenital Syndrome, Autosomal Recessive	Pollakisuria, High palate, Proportionate short stature, Narrow palate	OMIM:227330
Alg6-Cdg	Decreased LDL cholesterol concentration, Macroglossia, Protein-losing enteropathy, Hypoalbuminemi...	ORPHA:79320
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinase concentration...	ORPHA:2364
Acute Intermittent Porphyria	Dark urine, Hyponatremia, Renal insufficiency, Back pain, Dysuria, Urinary incontinence, Abdomina...	ORPHA:79276
Polyglucosan Body Neuropathy, Adult Form	Neurogenic bladder, Urinary incontinence	OMIM:263570
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy...	OMIM:618220
Spastic Paraplegia 15, Autosomal Recessive	Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence, Bowel incontinence	OMIM:270700
Adult-Onset Distal Myopathy Due To Vcp Mutation	Back pain, Urinary incontinence, Bowel incontinence, Myalgia, Mildly elevated creatine kinase	ORPHA:329478
Spinocerebellar Ataxia 17	Urinary incontinence, Dysphagia	OMIM:607136
Brain-Lung-Thyroid Syndrome	Short stature, Hypospadias, Megacystis, Growth delay, Vesicoureteral reflux, Failure to thrive	ORPHA:209905
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits...	ORPHA:449395
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Perineural Cyst	Shoulder pain, Recurrent urinary tract infections, Low back pain, Urinary incontinence, Bowel inc...	ORPHA:65250
Childhood Disintegrative Disorder	Urinary incontinence, Bowel incontinence	ORPHA:168782
Myopia 28, Autosomal Recessive	Retinal detachment, Cataract	OMIM:619781
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Increased urinary gl...	ORPHA:247598
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Urinary incontinence	OMIM:600795
Cataract 21, Multiple Types	Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac...	OMIM:610202
Charcot-Marie-Tooth Disease, Axonal, Type 2Z	Urinary incontinence	OMIM:616688
Autoinflammatory-Pancytopenia Syndrome	Membranoproliferative glomerulonephritis, Proteinuria, Intestinal inflammation, Growth delay, Typ...	OMIM:619858
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:301008
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Exercise intolerance, Renal insufficiency, Elevated circulating creatine kinase concentration, El...	ORPHA:228302
Galloway-Mowat Syndrome 2, X-Linked	Proteinuria, Short stature, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Ne...	OMIM:301006
Solitary Fibrous Tumor	Fatigue, Low back pain, Hypoglycemia, Reduced C-peptide level, Night sweats, Weight loss, Neoplas...	ORPHA:2126
Syringomyelia, Noncommunicating Isolated	Urinary incontinence, Neck pain	OMIM:186700
Intellectual Developmental Disorder, Autosomal Dominant 67	Hyperactivity, Astigmatism, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor...	OMIM:619927
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Intrauterine growth retardation, Failure to thrive, Small for gestational age, Urinary incontinence	OMIM:604320
X-Linked Intellectual Disability, Stocco Dos Santos Type	Hyperactivity, Cataract	ORPHA:85288
Spastic Paraplegia 54, Autosomal Recessive	Short stature, Urinary incontinence, Bowel incontinence, High palate, Dysphagia	OMIM:615033
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria	OMIM:613913
Paganini-Miozzo Syndrome	Hyperalaninemia, Urinary incontinence	OMIM:301025
Generalized Pustular Psoriasis	Hyponatremia, Fatigue, Renal insufficiency, Elevated circulating C-reactive protein concentration...	ORPHA:247353
Spastic Paraplegia 89, Autosomal Recessive	Intrauterine growth retardation, Functional abnormality of the bladder	OMIM:620379
Spastic Paraplegia 46, Autosomal Recessive	Urinary incontinence	OMIM:614409
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney diseas...	OMIM:613845
Peroxisome Biogenesis Disorder 14B	Urinary incontinence	OMIM:614920
Galactosemia Ii	Cataract	OMIM:230200
Wolcott-Rallison Syndrome	Hyponatremia, Renal insufficiency, Short stature, Neonatal insulin-dependent diabetes mellitus, C...	ORPHA:1667
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Elevated circulating creatine kinase concentration, Hyperkalemia, Myalgia, Myoglobinuria, Acute k...	OMIM:268200
Glycogen Storage Disease Ixd	Exercise intolerance, Hypoglycemia, Elevated circulating creatine kinase concentration, Exercise-...	OMIM:300559
Huntington Disease-Like 3	Urinary incontinence, Bowel incontinence	OMIM:604802
Fowler Urethral Sphincter Dysfunction Syndrome	Dysuria, Urinary retention, Abnormality of the urethra, Urinary incontinence	ORPHA:2795
Cataract 10, Multiple Types	Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract	OMIM:600881
Autosomal Dominant Spastic Paraplegia Type 38	Urinary incontinence	ORPHA:171617
Isolated Epispadias	Anteriorly displaced urethral meatus, Epispadias, Vesicoureteral reflux, Urinary incontinence	ORPHA:93928
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext...	ORPHA:329918
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Dark urine, Fatigue, Exercise intolerance, Recurrent myoglobinuria, Elevated circulating creatine...	ORPHA:368
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Enuresis, Failure to thrive in infancy, Obesity	OMIM:613670
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Pulmonary Blastoma	Chest pain, Weight loss	ORPHA:64741
Mpi-Cdg	Gastrointestinal hemorrhage, Hypoalbuminemia, Protein-losing enteropathy, Hyperinsulinemic hypogl...	ORPHA:79319
Leber Congenital Amaurosis 8	Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund...	OMIM:613835
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormality of the up...	ORPHA:99885
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Proteinuria, Short stature, Nephrotic syndrome, Type I diabetes mellitus, Nephropathy	ORPHA:1192
Spinocerebellar Ataxia Type 25	Urinary urgency, Episodic abdominal pain	ORPHA:101111
Ectopia Lentis Et Pupillae	Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe...	OMIM:225200
Nephrotic Syndrome, Type 22	Hypoproteinemia, Podocyte foot process effacement, Stage 5 chronic kidney disease, Thickened glom...	OMIM:619155
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Proteinuria, Short stature, Hiatus hernia, Stage 5 chronic kidney di...	OMIM:617729
Mantle Cell Lymphoma	Abnormality of the gastrointestinal tract, Fatigue, Weight loss	ORPHA:52416
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Fatigue, Proteinuria, Large for gestational age, Abnormal circulating fatty-acid concentration, H...	ORPHA:263455
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Urinary incontinence	OMIM:617145
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Short stature, Elevated circulating creatinine concentration, Growth delay, Gl...	OMIM:615605
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract	OMIM:619813
Fanconi Renotubular Syndrome 2	Renal insufficiency, Proteinuria, Short stature, Bone pain, Generalized aminoaciduria, Hypercalci...	OMIM:613388
Intellectual Developmental Disorder, X-Linked 111	Hyperactivity, Aggressive behavior, Phonic tics, Compulsive behaviors, Dystonia	OMIM:301107
Autosomal Recessive Spastic Paraplegia Type 46	Urinary incontinence	ORPHA:320391
Cednik Syndrome	Nephrotic syndrome, Proteinuria, Short stature	ORPHA:66631
Cataract 11, Multiple Types	Cataract, Developmental cataract	OMIM:610623
Thrombotic Thrombocytopenic Purpura	Renal insufficiency, Proteinuria, Abdominal pain, Hematuria, Decreased serum creatinine, Acute ki...	ORPHA:54057
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hematuria, Intrauterine growth retardation, Hypoalbuminemia, Small for gestational age	OMIM:617021
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline	Urinary incontinence, Bowel incontinence, Dysphagia	OMIM:618868
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Tremor, Hyperactivity, Limb dystonia, Aggressive behavior	OMIM:620270
Neural Tube Defects, Susceptibility To	Urinary incontinence	OMIM:182940
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Weight loss, Aminoaciduria, Proximal tubulopathy, Failure to thrive	OMIM:612075
Autosomal Dominant Spastic Paraplegia Type 12	Urinary urgency, Urinary incontinence, Bowel incontinence	ORPHA:100993
Xfe Progeroid Syndrome	Renal insufficiency, Severe short stature, Proteinuria, Cachexia, Hypoalbuminemia, Failure to thrive	OMIM:610965
Spastic Paraplegia 44, Autosomal Recessive	Urinary incontinence	OMIM:613206
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract	OMIM:254000
Adrenoleukodystrophy	Elevated circulating long chain fatty acid concentration, Urinary bladder sphincter dysfunction, ...	OMIM:300100
Peroxisome Biogenesis Disorder 1A (Zellweger)	Hypospadias, Protruding tongue, High, narrow palate, Macroglossia, Albuminuria, Aminoaciduria, Hi...	OMIM:214100
Liver Failure, Infantile, Transient	3-hydroxydicarboxylic aciduria, Dicarboxylic aciduria, Lacticaciduria, Hypoalbuminemia, Hyperbili...	OMIM:613070
Spastic Paraplegia 9A, Autosomal Dominant	Short stature, Urinary incontinence, Hiatus hernia, Urinary urgency, Gastroesophageal reflux	OMIM:601162
Combined Oxidative Phosphorylation Deficiency 37	Hypoglycemia, 3-Methylglutaconic aciduria, Hypoalbuminemia, Hyperalaninemia, Failure to thrive	OMIM:618329
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Hypoglycemia, 4-hydroxyphenylacetic aciduria, Conjugated hyperbilirubinemia, 4-...	OMIM:617156
Aicardi-Goutieres Syndrome 9	Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Stage 5 chronic kidney dise...	OMIM:619487
Coenzyme Q10 Deficiency, Primary, 6	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ...	OMIM:614650
Mu-Heavy Chain Disease	Nephropathy, Bence Jones Proteinuria, Weight loss	ORPHA:100024
Cataract 47	Microcornea, Cataract	OMIM:612018
X-Linked Immunoneurologic Disorder	Functional abnormality of the bladder	ORPHA:2571
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Immunodeficiency, Common Variable, 6	Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Arthralg...	OMIM:613496
Hypouricemia, Renal, 1	Proteinuria, Hypouricemia, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricos...	OMIM:220150
Cataract 1, Multiple Types	Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract	OMIM:116200
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Abnormality of the gastrointestinal tract, Ketonuria, Short stature, Ketotic hypoglycemia, Hyperl...	ORPHA:2089
Amyloidosis, Familial Visceral	Hematuria, Nephrotic syndrome, Nephropathy, Proteinuria	OMIM:105200
2P21 Microdeletion Syndrome	Hypoglycemia, Nephrolithiasis, Cystinuria, Growth delay, Hypocalcemia, Failure to thrive	ORPHA:163693
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hyperactivity, Aggressive behavior, Tremor, Optic atrophy, Abnormal repetitive mannerisms	OMIM:619470
Analbuminemia	Fatigue, Elevated circulating transferrin concentration, Increased LDL cholesterol concentration,...	OMIM:616000
Hereditary Motor And Sensory Neuropathy, Type Iic	Urinary urgency, Short stature, Urinary incontinence	OMIM:606071
Autosomal Recessive Spastic Paraplegia Type 69	Cataract, Hand tremor	ORPHA:401830
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response, Attention deficit hyperactivity disorder	OMIM:617028
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay	Urinary incontinence, Dysphagia	ORPHA:98
Megabladder, Congenital	Hyperechogenic kidneys, Multiple glomerular cysts, Fetal megacystis, Stage 5 chronic kidney disease	OMIM:618719
Developmental And Epileptic Encephalopathy 104	Self-injurious behavior, Hyperactivity, Agitation	OMIM:619970
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5...	OMIM:614377
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Urinary incontinence	OMIM:221770
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Generalized aminoaciduria, Gr...	OMIM:251880
Intellectual Developmental Disorder, X-Linked 101	Hyperactivity, Optic atrophy	OMIM:300928
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Abdominal pain, Rectal prolapse, Multiple gastric polyps, Hematochezia, ...	OMIM:174900
Combined Oxidative Phosphorylation Deficiency 36	Exercise intolerance, Hypoglycemia, Aciduria, Myalgia, Hyperalaninemia, Failure to thrive	OMIM:617950
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome	Urinary urgency	OMIM:618878
Pure Autonomic Failure	Dysuria, Constitutional symptom, Urinary incontinence	ORPHA:441
Paraparetic Variant Of Guillain-Barré Syndrome	Sciatica, Pain, Urinary bladder sphincter dysfunction	ORPHA:231445
Chiari Malformation Type I	Neck pain, Urinary incontinence, Dysphagia	OMIM:118420
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:254900
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Cataract, Retinal atrophy, Pigmentary retinopathy, Rod-c...	OMIM:613731
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Proteinuria, Conjugated hyperbilirubinemia, Nephrocalcinosis, Renal tubular acidosis, Aminoacidur...	OMIM:613404
Spinocerebellar Ataxia 10	Urinary urgency, Urinary incontinence, Dysphagia	OMIM:603516
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Gastritis, Failure to thrive in infancy, Cachexia, Malabsorption, Ileus, Abnormal blood ion conce...	ORPHA:37042
Nephrogenic Diabetes Insipidus	Renal insufficiency, Hydroureter, Short stature, Failure to thrive, Functional abnormality of the...	ORPHA:223
Becker Muscular Dystrophy	Exercise intolerance, Abnormal urinary color, Fatigue, Elevated circulating creatine kinase conce...	ORPHA:98895
Spinocerebellar Ataxia Type 13	Urinary urgency, Short stature, Urinary incontinence, Dysphagia	ORPHA:98768
Combined Malonic And Methylmalonic Acidemia	Dicarboxylic acidemia, Methylmalonic acidemia, Dicarboxylic aciduria, Hypoglycemia, Methylmalonic...	ORPHA:289504
Aa Amyloidosis	Proteinuria, Abnormality of the kidney, Malabsorption, Abdominal pain, Chronic kidney disease, Ne...	ORPHA:85445
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ...	OMIM:611040
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Short s...	OMIM:134600
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Renal dysplasia, Duplicated collecting system, Anal stenosis, Hydroureter, Renal agenesis, Absenc...	OMIM:604292
Huntington Disease-Like 3	Urinary incontinence, Bowel incontinence	ORPHA:157946
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Dicarboxylic aciduria, Proportionate short stat...	ORPHA:71212
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho...	OMIM:618913
Hyperinsulinism-Hyperammonemia Syndrome	Increased urine alpha-ketoglutarate concentration, Reactive hypoglycemia, Fasting hyperinsulinemi...	ORPHA:35878
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Exercise intolerance, Elevated circulating creatine kinase concentration, Elevated circulating ac...	ORPHA:228305
Primary Hyperoxaluria Type 1	Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ...	ORPHA:93598
Laryngeal Neuroendocrine Tumor	Elevated carcinoembryonic antigen level, Weight loss, Chronic fatigue, Oral-pharyngeal dysphagia	ORPHA:100083
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Small for gestational age, Proteinuria, Short stature, Nephrotic syndrome, Mucopolysacchariduria	OMIM:215250
Foix-Alajouanine Syndrome	Back pain, Low back pain, Neurogenic bladder, Urinary incontinence, Bowel incontinence, Functiona...	ORPHA:79093
Anti-Glomerular Basement Membrane Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Arthralgia, Myalgia, Chest pain	ORPHA:375
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc drusen, Perifoveal ring o...	OMIM:600059
Mitochondrial Membrane Protein-Associated Neurodegeneration	Urinary incontinence, Bowel incontinence, Dysphagia	ORPHA:289560
Hereditary Renal Hypouricemia	Back pain, Hypouricemia, Postexertional symptom exacerbation, Chronic kidney disease, Hypercalciu...	ORPHA:94088
Neuromyelitis Optica Spectrum Disorder	Ocular pain, Functional abnormality of the bladder, Recurrent singultus	ORPHA:71211
Leukoencephalopathy With Vanishing White Matter 2	Cataract, Optic atrophy	OMIM:620312
Hyperinsulinism Due To Insr Deficiency	Fatigue, Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-pepti...	ORPHA:263458
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Hypercalcemia	ORPHA:2668
Immunodeficiency 27A	Night sweats, Hypoalbuminemia, Weight loss	OMIM:209950
Xq28 (MECP2) duplication	Failure to thrive, Functional abnormality of the bladder, Gastroesophageal reflux, Dysphagia	DECIPHER:45
Posterior Column Ataxia With Retinitis Pigmentosa	Recurrent urinary tract infections, Achalasia, Urinary incontinence	OMIM:609033
Galloway-Mowat Syndrome 5	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:617731
Leishmaniasis	Fatigue, Night sweats, Weight loss, Arthralgia, Hypoalbuminemia	ORPHA:507
Imerslund-Grasbeck Syndrome 2	Proteinuria	OMIM:618882
Mannosidosis, Beta A, Lysosomal	Hyperactivity, Tortuosity of conjunctival vessels, Aggressive behavior	OMIM:248510
Familial Mediterranean Fever, Autosomal Dominant	Renal insufficiency, Proteinuria, Abdominal pain, Arthralgia, Renal amyloidosis, Chest pain	OMIM:134610
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Hinman Syndrome	Renal insufficiency, Recurrent urinary tract infections, Bowel incontinence, Enuresis, Vesicouret...	ORPHA:84085
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Gastroesophageal reflux, High palate, Urinary incontinence, Short stature	OMIM:620070
Congenital Disorder Of Glycosylation, Type Iit	Decreased HDL cholesterol concentration, Short stature, Urinary incontinence, Decreased serum cre...	OMIM:618885
Primary Fanconi Renotubular Syndrome	Bone pain, Bicarbonaturia, Low-molecular-weight proteinuria, Hypophosphatemic rickets, Hypouricem...	ORPHA:3337
Osteootohepatoenteric Syndrome	Ileoileal intussusception, Villous atrophy, Proteinuria, Increased intestinal transit time, Abdom...	OMIM:619377
Dent Disease	Elevated circulating creatine kinase concentration, Bone pain, Nephrocalcinosis, Aminoaciduria, L...	ORPHA:1652
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type	Decreased body weight, Urinary incontinence, Bowel incontinence, Dysphagia	OMIM:300243
Primary Intestinal Lymphangiectasia	Increased stool alpha1-antitrypsin concentration, Abdominal pain, Functional abnormality of the g...	ORPHA:90362
Tuberculosis	Fatigue, Weight loss	ORPHA:3389
Cataract 14, Multiple Types	Zonular cataract	OMIM:601885
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Small Cell Carcinoma Of The Bladder	Recurrent urinary tract infections, Hypercalcemia, Dysuria, Abdominal pain, Hematuria	ORPHA:284400
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Intestinal obstruction, Malabsorption, Abdominal pain, Growth delay, Arthralgia, Hypoalbuminemia,...	OMIM:226300
Leber Congenital Amaurosis 6	Keratoconus, Cataract, Attenuation of retinal blood vessels	OMIM:613826
Gitelman Syndrome	Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Tubulointerstitial nephriti...	ORPHA:358
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Renal insufficiency, Myalgia	OMIM:255110
Mody	Elevated hemoglobin A1c, Abnormality of the kidney, Large for gestational age, Overweight, Transi...	ORPHA:552
Cataract 3, Multiple Types	Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract	OMIM:601547
Congenital Disorder Of Glycosylation, Type Ia	Villous atrophy, Proteinuria, Renal cyst, Steatorrhea, Nephrotic syndrome, Proximal tubulopathy, ...	OMIM:212065
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:617113
Imerslund-Grasbeck Syndrome 1	Microscopic hematuria, Proteinuria	OMIM:261100
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul...	OMIM:618195
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Short stature, Small for gestation...	OMIM:251300
Wieacker-Wolff Syndrome, Female-Restricted	Short stature, Urinary incontinence, Cleft palate, Dysphagia	OMIM:301041
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Macroglossia, Highly elevated creatine kinase, Myalgia, Exercise-induced myoglobinuria	ORPHA:352479
Phenylketonuria	Hyperactivity, Cataract, Aggressive behavior, Blue irides, Attention deficit hyperactivity disord...	OMIM:261600
Multicentric Carpotarsal Osteolysis Syndrome	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Arthralgia, Wrist pain, Ankle p...	OMIM:166300
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Diabetes mellitus, Dysphagia, Stress urinary incontinence	ORPHA:136
Spinocerebellar Ataxia Type 19/22	Urinary incontinence	ORPHA:98772
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St...	OMIM:612925
Congenital Disorder Of Glycosylation, Type Ih	Elevated circulating creatinine concentration, Hypoalbuminemia, Protein-losing enteropathy, Intra...	OMIM:608104
Leber Congenital Amaurosis 1	Keratoconus, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Eye poking, Att...	OMIM:204000
Wilson Disease	Hyperphosphaturia, Decreased circulating ceruloplasmin concentration, Proteinuria, Hypouricemia, ...	OMIM:277900
Isolated Aniridia	Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly	ORPHA:250923
Combined Oxidative Phosphorylation Deficiency 52	Renal insufficiency, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamyla...	OMIM:619386
Mucopolysaccharidosis-Plus Syndrome	Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Macroglossia, Hypoalbuminemi...	OMIM:617303
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Dyspepsia, Failure to thrive, Esophageal stenosis, Proteinuria, Hypoperistalsis, Esophageal neopl...	ORPHA:1018
Avian Influenza	Fatigue, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive prot...	ORPHA:454836
Majeed Syndrome	Glomerulopathy, Failure to thrive, Proteinuria, Cachexia, Malabsorption, Bone pain, Weight loss, ...	ORPHA:77297
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Alaninuria, Hypoglycemia	OMIM:615158
Autosomal Recessive Spastic Paraplegia Type 77	Neuromuscular dysphagia, Neurogenic bladder, Detrusor sphincter dyssynergia, Urinary incontinence	ORPHA:466722
Rhabdoid Tumor	Renal neoplasm, Hypercalcemia, Abdominal pain, Weight loss, Hematuria, Neoplasm of the liver	ORPHA:69077
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior e...	ORPHA:1473
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Low back pain, Urinary incontinence, Bowel incontinence	OMIM:600142
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612926
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Exercise intolerance, Short stature, Elevated circulating creatine kinase concentration, Hypoglyc...	OMIM:618120
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Failure to thrive in infancy	OMIM:618805
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Short stature, Elevated circulating creatine kinase concentration, Cachexia, Methylmalonic acidur...	ORPHA:1933
Mitochondrial Trifunctional Protein Deficiency 1	Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati...	OMIM:609015
Parkinson Disease 6, Autosomal Recessive Early-Onset	Urinary urgency	OMIM:605909
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract	OMIM:618660
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Proteinuria, Short stature, Minimal change glomerulonephritis, Stage...	OMIM:618348
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Abnormal large intestine morphology, Esophageal neoplasm, Weight los...	ORPHA:2198
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Mild postnatal growth retardation, Ectopic kidney, Rectal prolapse, Horseshoe kidney, Narrow pala...	OMIM:235510
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Iris coloboma, Chorioretinal coloboma	OMIM:120433
Glycogen Storage Disease Vi	Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia, Postnatal growth retardation, H...	OMIM:232700
Spastic Paraplegia 30, Autosomal Dominant	Urinary bladder sphincter dysfunction	OMIM:610357
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hy...	ORPHA:2334
Spinocerebellar Ataxia Type 42	Urinary urgency, Urinary incontinence, Dysphagia	ORPHA:458803
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Short stature, Chronic kidney disease, Bone pain, Stage 5...	OMIM:300009
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines	OMIM:301076
Denys-Drash Syndrome	Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma	ORPHA:220
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612924
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Proportionate short stature, Obesity, Growth delay, Type I diabetes mellitus, Moderate albuminuri...	OMIM:619269
Juvenile Amyotrophic Lateral Sclerosis	Urinary incontinence, Cachexia, Dysphagia	ORPHA:300605
Nathalie Syndrome	Cataract	OMIM:255990
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Increased urine succinate level, Hypoglycemia, Decreased plasma free carnitine, Hyperalaninemia, ...	OMIM:619048
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Polyuria, Hematochezia, Hypoalbuminemia, Hypocalcemia, Protei...	OMIM:618183
3-Methylglutaconic Aciduria Type 4	Failure to thrive, 3-Methylglutaconic aciduria, Hypoglycemia	ORPHA:67048
Cataract 8, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:115665
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Fatigue, Exercise intolerance, Hypertriglyceridemia, Short stature, Elevated circulating creatine...	ORPHA:79240
Non-Functioning Paraganglioma	Fatigue, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine level, E...	ORPHA:94080
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Proteinuria, Glomerulonephritis, Short stature, Rhizomelia, Elevated circulating creatinine conce...	OMIM:614376
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Failure to thrive, Esophageal stenosis, Anal fissure, Decreased serum iron, Esophageal stricture,...	ORPHA:89842
Spinocerebellar Ataxia 2	Urinary bladder sphincter dysfunction, Urinary incontinence, Dysphagia	OMIM:183090
Adrenomyeloneuropathy	Back pain, Fatigue, Urinary incontinence, Bowel incontinence, Abnormal circulating fatty-acid con...	ORPHA:139399
Glycogen Storage Disease Ia	Proteinuria, Short stature, Hypoglycemia, Hepatocellular carcinoma, Hyperlipidemia, Nephrolithias...	OMIM:232200
Glycogen Storage Disease Due To Aldolase A Deficiency	Myoglobinuria, Hyperkalemia, Growth delay, Myalgia, Elevated creatine kinase after exercise, Acut...	ORPHA:57
Attrv30M Amyloidosis	Nephropathy, Abnormal renal physiology, Weight loss	ORPHA:85447
Trichohepatoenteric Syndrome 1	Villous atrophy, Hypospadias, Short stature, Small for gestational age, Galactosuria, Hypoalbumin...	OMIM:222470
Neuroleptic Malignant Syndrome	Hyponatremia, Fatigue, Rigors, Proteinuria, Urinary incontinence, Elevated circulating creatine k...	ORPHA:94093
Neonatal Hemochromatosis	Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia, Abnormal locali...	ORPHA:446
Ornithine Transcarbamylase Deficiency	Pyloric stenosis, Aminoaciduria, Hypoglycemia, Hyperammonemia	ORPHA:664
Juvenile Nephropathic Cystinosis	Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem...	ORPHA:411634
Norrie Disease	Retinal detachment, Cataract, Corneal opacity, Aggressive behavior, Optic atrophy, Leukocoria, Hy...	OMIM:310600
Familial Hemophagocytic Lymphohistiocytosis	Hypertriglyceridemia, Increased circulating ferritin concentration, Colitis, Hypoalbuminemia, Abn...	ORPHA:540
Wild Type Attr Amyloidosis	Renal insufficiency, Proteinuria, Bowel incontinence, Gastrointestinal dysmotility, Weight loss, ...	ORPHA:330001
Cryoglobulinemia, Familial Mixed	Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab...	OMIM:123550
Marchiafava-Bignami Disease	Urinary incontinence	ORPHA:221074
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati...	ORPHA:88618
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Retinal pigment epithelial ...	OMIM:616108
Rajab Interstitial Lung Disease With Brain Calcifications 2	Exercise intolerance, Hypertriglyceridemia, Hypoalbuminemia, Short stature	OMIM:619013
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Hyperactivity, Aggressive behavior, Tremor, Choreoathetosis, Dystonia	OMIM:612716
Cataract 22, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:609741
Camptobrachydactyly	Urinary incontinence	OMIM:114150
Isolated Congenital Hypoglossia/Aglossia	Microglossia, Cleft palate, Weight loss	ORPHA:141152
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Intestinal pseudo-obstruction, Cachexia, Abdominal pain, Malabsorption, Gastrointestinal dysmotil...	OMIM:613662
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Fatigue, Dicarboxylic aciduria, Hypoglycemia, Elevated ci...	ORPHA:42
Diencephalic Syndrome	Long penis, Cachexia, Decreased body weight	ORPHA:1672
Currarino Syndrome	Recurrent urinary tract infections, Neurogenic bladder, Anal stenosis, Urinary incontinence, Peri...	OMIM:176450
Urofacial Syndrome 1	Recurrent urinary tract infections, Urethral valve, Hydroureter, Urethral obstruction, Enuresis, ...	OMIM:236730
Cataract-Nephropathy-Encephalopathy Syndrome	Cataract	ORPHA:1380
Glycine Encephalopathy 1	Restlessness, Hyperactivity, Impulsivity, Aggressive behavior	OMIM:605899
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1	Hydroureter, Fetal megacystis, Intestinal malrotation	OMIM:249210
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Fatigue, Exercise intolerance, Hypertriglyceridemia, Short stature, Elevated circulating creatine...	ORPHA:264580
Mitochondrial Trifunctional Protein Deficiency 2	Increased circulating NT-proBNP concentration, Hypoglycemia, Recurrent myoglobinuria, Elevated ci...	OMIM:620300
Glutaric Acidemia Type 3	Ketonuria, Glutaric aciduria, Abnormality of circulating enzyme level, Elevated circulating gluta...	ORPHA:35706
Malakoplakia	Proteinuria, Dysuria, Abdominal pain, Urinary bladder inflammation, Urinary urgency, Hematuria, N...	ORPHA:556
Ddost-Cdg	Gastroesophageal reflux, Failure to thrive, Nephrotic range proteinuria, Short stature	ORPHA:300536
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Neurogenic bladder, Urinary incontinence, Bowel incontinence, Elevated circulating creatine kinas...	ORPHA:496641
Galloway-Mowat Syndrome 4	Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Short stature, Stage 5 c...	OMIM:617730
Cog5-Cdg	Neurogenic bladder, Short stature, Urinary incontinence, High palate, Intrauterine growth retarda...	ORPHA:263487
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Nonketotic hypoglycemia, Necrotizing enterocolitis, Dicarboxylic aciduria, Elevated circulating c...	OMIM:201475
Free Sialic Acid Storage Disease	Nephrotic syndrome, Proteinuria, Failure to thrive in infancy	ORPHA:834
Papa Syndrome	Fatigue, Proteinuria, Arthralgia, Crohn's disease, Type I diabetes mellitus	ORPHA:69126
Oligomeganephronia	Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal agenesis, Glomerulo...	ORPHA:2260
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy	Urinary urgency	ORPHA:314603
Exstrophy-Epispadias Complex	Renal dysplasia, Abnormality of the gastrointestinal tract, Renal insufficiency, Bladder fistula,...	ORPHA:322
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Nephropathy, Proteinuria, Cachexia	ORPHA:2774
Dicarboxylic Aminoaciduria	Aminoaciduria, Aspartic aciduria, Nephrolithiasis, Fasting hypoglycemia	OMIM:222730
Sporadic Pheochromocytoma/Secreting Paraganglioma	Fatigue, Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopa...	ORPHA:276621
Cataract 5, Multiple Types	Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Carnitine Palmitoyltransferase Ii Deficiency	Exercise intolerance, Elevated circulating creatine kinase concentration, Elevated circulating ac...	ORPHA:157
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1	Pseudobulbar paralysis, Urinary incontinence	OMIM:125310
Exudative Vitreoretinopathy 6	Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen...	OMIM:616468
Glycogen Storage Disease Ii	Exercise intolerance, Increased circulating NT-proBNP concentration, Urinary incontinence, Elevat...	OMIM:232300
Polyarteritis Nodosa	Abnormality of the gastrointestinal tract, Abnormality of the kidney, Elevated circulating C-reac...	ORPHA:767
Indifference To Pain, Congenital, Autosomal Recessive	Urinary incontinence	OMIM:243000
Fragile X Tremor/Ataxia Syndrome	Myalgia, Urinary incontinence, Bowel incontinence	OMIM:300623
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Decreased circulating ceruloplasmin concentration, Short stature, Decreased circulating copper co...	OMIM:242150
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Heme Oxygenase 1 Deficiency	Proteinuria, Elevated circulating C-reactive protein concentration, Increased circulating ferriti...	OMIM:614034
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo...	ORPHA:67043
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Growth delay, Bowel incontinence, Urinary incontinence, Elevated circulating creatine kinase conc...	OMIM:617193
Autosomal Dominant Spastic Paraplegia Type 3	Urinary urgency, Growth delay	ORPHA:100984
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Myopic astigmatism, Developmental cataract, Atte...	OMIM:620141
Propionic Acidemia	Organic aciduria, Hypoglycemia, Hyperammonemia	ORPHA:35
Autosomal Recessive Spastic Paraplegia Type 15	Diabetes mellitus, Pseudobulbar paralysis, Functional abnormality of the bladder	ORPHA:100996
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, Short stature, Cachexia, Abdominal pain, High, narrow palate, Rectal...	ORPHA:79076
Aapoaiv Amyloidosis	Abnormality of the gastrointestinal tract, Back pain, Diabetes mellitus, Proteinuria, Abnormal re...	ORPHA:439232
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity	Urinary incontinence, Dysphagia	ORPHA:352641
Morning Glory Disc Anomaly	Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Glucose-Galactose Malabsorption	Renal insufficiency, Failure to thrive, Hypercalcemia, Nephrolithiasis, Weight loss, Hematuria, H...	ORPHA:35710
Neuroblastoma, Susceptibility To, 1	Elevated urinary catecholamine level, Abdominal pain, Elevated urinary dopamine level, Bone pain,...	OMIM:256700
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Leiomyomatosis, Diffuse, With Alport Syndrome	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Failure to thrive, St...	OMIM:308940
Guanidinoacetate Methyltransferase Deficiency	Hyperactivity, Aggressive behavior, Self-injurious behavior, Athetosis, Dystonia	ORPHA:382
Amoebiasis Due To Entamoeba Histolytica	Intestinal obstruction, Abdominal pain, Gastrointestinal dysmotility, Weight loss, Chest pain, Hy...	ORPHA:67
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Proteinuria, Postnatal growth retardation, Cleft palate, Multiple bladder diverticula, Intrauteri...	ORPHA:2728
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Short stature, Absence of renal cor...	OMIM:120330
Neuropathy, Hereditary Sensory And Autonomic, Type V	Low back pain, Urinary incontinence	OMIM:608654
Metachromatic Leukodystrophy	Urinary incontinence, Bowel incontinence, Abnormal stomach morphology, Neoplasm of the gallbladde...	ORPHA:512
Spastic Paraplegia 80, Autosomal Dominant	Urinary urgency	OMIM:618418
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Small for gestational age, Short stature, Hypoglycemia, Insulin-resistant diabetes mellitus, Long...	OMIM:262190
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S...	OMIM:104200
Galactokinase Deficiency	Small for gestational age, Hypoglycemia, Hyperinsulinemia, Increased level of galactitol in plasm...	ORPHA:79237
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chorioretin...	OMIM:251270
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Hypercalcemia, Failure to thrive, High palate, Urinary incontinence	ORPHA:476126
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Cataract, Retinopathy	OMIM:183800
Congenital Analbuminemia	Fatigue, Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbumi...	ORPHA:86816
Cataract 20, Multiple Types	Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract	OMIM:116100
Alg12-Cdg	Hyponatremia, Hypospadias, Intestinal malrotation, Recurrent hypoglycemia, Hypoalbuminemia, Gastr...	ORPHA:79324
Renal Glucosuria	Glycosuria, Polyuria, Enuresis nocturna	OMIM:233100
Nephroblastoma	Abdominal pain, Weight loss, Hematuria, Neoplasm of the liver, Nephroblastoma	ORPHA:654
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Dicarboxylic aciduria, Hypoglycemic seizures, Growth delay, Myoglobinuria, Hypoketotic hypoglycemia	OMIM:231530
Diffuse Alveolar Hemorrhage	Proteinuria, Elevated circulating creatinine concentration, Weight loss, Hematuria, Chest pain	ORPHA:90060
Blue Diaper Syndrome	Hypercalcemia, Increased body weight, Increased proinsulin:insulin ratio, Nephrocalcinosis, Blue ...	ORPHA:94086
Malignant Hyperthermia, Susceptibility To, 1	Myoglobinuria, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
Pyruvate Dehydrogenase E3 Deficiency	Increased urine alpha-ketoglutarate concentration, Elevated circulating branched chain amino acid...	ORPHA:2394
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Severe short stature, Rhizomelia, Urinary incontinence, Bowel incontinence, Disproportionate shor...	OMIM:616482
Amyotrophic Lateral Sclerosis 2, Juvenile	Short stature, Urinary incontinence, Dysphagia	OMIM:205100
Leber Congenital Amaurosis 16	Optic disc pallor, Cataract	OMIM:614186
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:208920
Dyschondrosteosis-Nephritis Syndrome	Proteinuria, Short stature, Hematuria, Mesomelic short stature, Nephropathy, Intrauterine growth ...	ORPHA:1765
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Urinary incontinence	ORPHA:98784
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Cataract, Retinal dystrophy	OMIM:610156
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Mild postnatal growth retardation, Short stature, Malabsorption, Bicarbonaturi...	ORPHA:47159
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Proteinuria, Abdominal pain, He...	ORPHA:91138
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Short stature, Obesity, Inc...	ORPHA:251004
Leber Congenital Amaurosis 7	Keratoconus, Cataract	OMIM:613829
Cataract 6, Multiple Types	Posterior polar cataract, Choroideremia, Developmental cataract	OMIM:116600
Genetic Recurrent Myoglobinuria	Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka...	ORPHA:99845
Frasier Syndrome	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:136680
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Proteinuria, Heparan sulfate excretion in urine, Nephrotic syndrome, Heavy proteinuria, Urinary g...	ORPHA:505248
Igg4-Related Retroperitoneal Fibrosis	Fatigue, Low back pain, Renal insufficiency, Dysuria, Elevated circulating C-reactive protein con...	ORPHA:49041
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Exercise intolerance, Elevated circulating creatine kinase concentration, Elevated circulating cr...	OMIM:620138
Coenzyme Q10 Deficiency, Primary, 1	Fatigue, Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration...	OMIM:607426
Bacterial Toxic-Shock Syndrome	Pain, Renal insufficiency, Recurrent urinary tract infections, Glomerulonephritis, Elevated circu...	ORPHA:36234
Glycogen Storage Disease Vii	Exercise intolerance, Elevated circulating creatine kinase concentration, Exercise-induced myoglo...	OMIM:232800
Secondary Intestinal Lymphangiectasia	Fatigue, Intestinal obstruction, Abdominal colic, Intestinal lymphedema, Increased stool alpha1-a...	ORPHA:90363
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Cataract, Peripheral retinal avascularization, Rhegmatog...	ORPHA:891
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis	OMIM:610205
Primary Progressive Freezing Gait	Urinary incontinence, Dysphagia	ORPHA:75567
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Myoglobinuria, Elevated circulating creatine kinase concentration	ORPHA:119
Hypophosphatemic Rickets, X-Linked Recessive	Renal insufficiency, Short stature, Chronic kidney disease, Bone pain, Nephrolithiasis, Hypercalc...	OMIM:300554
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Aggressive behavior, Chor...	OMIM:152950
Intellectual Developmental Disorder, X-Linked 98	Steroid-dependent nephrotic syndrome, Urinary incontinence, Postnatal growth retardation, Gastroe...	OMIM:300912
Schimke Immuno-Osseous Dysplasia	Failure to thrive, Proteinuria, Short stature, Small for gestational age, Minimal change glomerul...	ORPHA:1830
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Tremor, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms, Paroxysm...	OMIM:618718
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Hypoglycemia	OMIM:615026
Glycogen Storage Disease Ib	Proteinuria, Short stature, Hypoglycemia, Hepatocellular carcinoma, Hyperlipidemia, Nephrolithias...	OMIM:232220
Spinocerebellar Ataxia Type 8	Urinary incontinence, Dysphagia	ORPHA:98760
Fatal Familial Insomnia	Weight loss, Urinary retention, Dysphagia	OMIM:600072
Exudative Vitreoretinopathy 4	Peripheral retinal avascularization, Posterior vitreous detachment, Vitreous hemorrhage, Exudativ...	OMIM:601813
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Hyperuricosuria, Hyp...	ORPHA:79233
Roussy-Lévy Syndrome	Urinary bladder sphincter dysfunction	ORPHA:3115
Cystinosis, Nephropathic	Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri...	OMIM:219800
Retinitis Pigmentosa 2	Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa...	OMIM:312600
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Exercise intolerance, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, R...	OMIM:220110
Hirschsprung Disease	Intestinal polyposis, Intestinal obstruction, Aganglionic megacolon, Failure to thrive in infancy...	ORPHA:388
Rajab Interstitial Lung Disease With Brain Calcifications 1	Exercise intolerance, Recurrent urinary tract infections, Short stature, Intestinal malrotation, ...	OMIM:613658
Intellectual Developmental Disorder, Autosomal Recessive 38	Hyperactivity, Aggressive behavior, Blue irides, Recurrent hand flapping, Self-mutilation	OMIM:615516
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:203780
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Increased serum pyruvate, Renal insufficiency, Small for gestational age, Growth delay, Mild prot...	OMIM:619147
Intestinal Dysmotility Syndrome	Failure to thrive, Weight loss, High palate, Decreased intestinal transit time	OMIM:620045
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypospadias, Glomerulonephritis, Proteinuria, Growth delay, Nephrotic syndrome, Glomerular sclerosis	OMIM:619428
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Failure to thrive, Esophageal varix, Hypoalbuminemia	ORPHA:367
Encephalitis Lethargica	Limb pain, Myalgia, Urinary incontinence, Bowel incontinence	ORPHA:83600
Immunodeficiency 32B	Failure to thrive, Hypoalbuminemia	OMIM:226990
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	3-hydroxydicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, Elevated circu...	OMIM:619355
Sporadic Infantile Bilateral Striatal Necrosis	Urinary incontinence, Dysphagia	ORPHA:225147
Secondary Short Bowel Syndrome	Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys...	ORPHA:95427
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia...	OMIM:603860
Childhood Absence Epilepsy	Urinary incontinence	ORPHA:64280
Eosinophilic Granulomatosis With Polyangiitis	Fatigue, Glomerulopathy, Renal insufficiency, Intestinal obstruction, Proteinuria, Malabsorption,...	ORPHA:183
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Hypoglycemia, Hyperammonemia, 3-Methylglutaconic aciduria, Hyperalaninemia, Failure to thrive	OMIM:614739
Autosomal Dominant Spastic Paraplegia Type 41	Urinary urgency	ORPHA:320355
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,...	ORPHA:436271
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Urinary incontinence, Bowel incontinence	OMIM:618877
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Hypercalcemia, Exercise-induced myoglobinuria, Chronic kidney disease, Exercise-induced myalgia, ...	ORPHA:284426
Galloway-Mowat Syndrome 10	Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne...	OMIM:619609
Gitelman Syndrome	Fatigue, Polyuria, Abdominal pain, Renal magnesium wasting, Growth delay, Enuresis, Hypokalemia, ...	OMIM:263800
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th...	OMIM:137920
Fanconi-Bickel Syndrome	Hyperphosphaturia, Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolerance, Hepatocel...	ORPHA:2088
Autosomal Dominant Spastic Paraplegia Type 37	Urinary urgency, Fatigue	ORPHA:171612
East Syndrome	Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Increased circulating renin l...	ORPHA:199343
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Hepatocellular carcinoma, Esophageal varix, Hypoalbuminemia, Gastric...	ORPHA:64743
Igg4-Related Aortitis	Low back pain, Intestinal obstruction, Elevated circulating C-reactive protein concentration, Abd...	ORPHA:449400
Autosomal Recessive Ataxia, Beauce Type	Urinary incontinence	ORPHA:88644
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Failure to thrive, Eosinophilic infiltration of the esophagus, Malabsorption, Growth delay, Hypoa...	OMIM:615508
Distal Limb Deficiencies-Micrognathia Syndrome	Renal insufficiency, Proteinuria, Short stature, Renal hypoplasia, Cleft palate, High palate, Mic...	ORPHA:1307
Stickler Syndrome, Type V	Retinal detachment, Cataract, Vitreoretinopathy	OMIM:614284
Neuraminidase Deficiency	Increased urinary O-linked sialopeptides, Urinary excretion of sialylated oligosaccharides, Prote...	OMIM:256550
Yao Syndrome	Abdominal pain, Xerostomia, Nephrolithiasis, Weight loss, Arthralgia, Myalgia, Chest pain	OMIM:617321
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Nephropathy, Diabetes mellitus, Proteinuria, Renal artery stenosis	OMIM:209010
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Hemolytic-uremic syn...	OMIM:277400
Hereditary Pheochromocytoma-Paraganglioma	Fatigue, Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopa...	ORPHA:29072
Inflammatory Bowel Disease (Crohn Disease) 1	Intestinal obstruction, Abdominal pain, Ulcerative colitis, Weight loss, Growth delay, Inflammati...	OMIM:266600
Primary Sclerosing Cholangitis	Fatigue, Cholangiocarcinoma, Renal insufficiency, Hepatocellular carcinoma, Celiac disease, Abdom...	ORPHA:171
Renal Agenesis	Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A...	ORPHA:411709
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, E...	ORPHA:228308
Donnai-Barrow Syndrome	Proteinuria, Intestinal malrotation	ORPHA:2143
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ...	OMIM:212550
Holocarboxylase Synthetase Deficiency	Growth delay, Organic aciduria, Hyperammonemia, Weight loss	ORPHA:79242
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hyperammonemia, Ketonuria, Hypoglycemia, Elevated urinary 3-methylcrotonylglycine level, Fa...	OMIM:210200
Sandhoff Disease	Macroglossia, Urinary incontinence, Episodic abdominal pain	OMIM:268800
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma	OMIM:216820
Cataract 16, Multiple Types	Posterior polar cataract, Retinal dystrophy, Lenticonus, Developmental cataract	OMIM:613763
Myh9-Related Disease	Nephropathy, Renal insufficiency, Proteinuria, Nephritis	ORPHA:182050
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Vitreous hemorrhage, ...	OMIM:133780
Castleman Disease	Abnormality of the gastrointestinal tract, Fatigue, Renal insufficiency, Intestinal obstruction, ...	ORPHA:160
Renpenning Syndrome	Severe short stature, Hypospadias, Diabetes mellitus, Cachexia, High, narrow palate, Cleft palate...	ORPHA:3242
Undifferentiated Pleomorphic Sarcoma	Fatigue, Weight loss	ORPHA:2023
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri...	OMIM:619827
Focal Myositis	Myalgia, Elevated circulating creatine kinase concentration, Weight loss	ORPHA:48918
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia	ORPHA:171844
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin	OMIM:618528
Pseudo-Torch Syndrome 3	Increased circulating ferritin concentration, Acute kidney injury, Proteinuria	OMIM:618886
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Proteinuria, Failure to thrive in infancy, Chronic kidney disease, Tubulointerstitial nephritis, ...	ORPHA:488627
Myoglobinuria, Recurrent	Recurrent myoglobinuria, Exercise-induced myoglobinuria	OMIM:550500
Spastic Paraplegia Type 7	Urinary urgency, Lower limb pain, Dysphagia	ORPHA:99013
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Ketonuria, Large for gestational age, Decreased circulating free fatty acid level, Recurrent hypo...	ORPHA:79644
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Diabetes mellitus, Moderate albuminuria, High palate, Obesity	OMIM:614231
Adult Krabbe Disease	Urinary incontinence	ORPHA:206448
Isolated Succinate-Coq Reductase Deficiency	Severe short stature, Proportionate short stature, Weight loss, Vesicoureteral reflux, Intrauteri...	ORPHA:3208
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Exercise-induced myalgia, Myoglobinuria, Renal insufficiency, Hyperbilirubinemia	ORPHA:713
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Retinal atrophy, Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract	OMIM:616722
Metachromatic Leukodystrophy	Urinary incontinence	OMIM:250100
Lymphoproliferative Syndrome, X-Linked, 1	Hypoalbuminemia, Elevated circulating C-reactive protein concentration	OMIM:308240
Cataract 39, Multiple Types	Lamellar cataract, Anterior polar cataract, Developmental cataract	OMIM:615188
Familial Glucocorticoid Deficiency	Hyponatremia, Recurrent urinary tract infections, Chronic fatigue, Ketotic hypoglycemia, Renal sa...	ORPHA:361
Amyloidosis, Hereditary, Transthyretin-Related	Urinary incontinence	OMIM:105210
Multiple Myeloma	Fatigue, Hypercalcemia, Elevated circulating creatinine concentration, Bone pain, Functional abno...	ORPHA:29073
Immunodeficiency 43	Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia	OMIM:241600
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Hypoglycemia, Renal salt wasting, Hyperkalemia, Failure to thrive	OMIM:614736
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Hematuria, Tubulointerstitial nephritis, Proteinuria, Short stature	OMIM:616901
Leber Congenital Amaurosis	Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract	ORPHA:65
Distal Renal Tubular Acidosis	Hyperphosphaturia, Failure to thrive, Short stature, Hypocitraturia, Bone pain, Nephrolithiasis, ...	ORPHA:18
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Urinary incontinence, Dysphagia	ORPHA:247234
Charcot-Marie-Tooth Disease Type 1F	Tongue atrophy, Urinary incontinence	ORPHA:101085
Simple Cryoglobulinemia	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Renal insufficiency, Memb...	ORPHA:91139
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia...	OMIM:603553
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Hypo...	ORPHA:411629
Alport Syndrome	Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, Proteinu...	ORPHA:63
Chronic Hiccup	Recurrent singultus, Weight loss	ORPHA:396
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Decreased ...	ORPHA:470
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Ketonuria, Elevated circulating creatine kinase concentration, Highly elevated creatine kinase, M...	OMIM:251900
Pauci-Immune Glomerulonephritis	Abnormality of the gastrointestinal tract, Renal insufficiency, Proteinuria, Glomerulonephritis, ...	ORPHA:93126
Frasier Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic s...	ORPHA:347
Glycogen Storage Disease Ic	Renal insufficiency, Proteinuria, Hypoglycemia, Hyperlipidemia, Hematuria, Focal segmental glomer...	OMIM:232240
Spinal Arteriovenous Metameric Syndrome	Fatigue, Abnormality of the kidney, Bone pain, Arthralgia, Gangrene, Urinary bladder sphincter dy...	ORPHA:53721
Dystonia-Deafness Syndrome 1	Generalized dystonia, Cataract, Oculogyric crisis, Leg dystonia, Pseudobulbar paralysis, Dysphagia	OMIM:607371
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Increased level of hippuric acid in urine, Hypoglycemia, Glutaric aciduria, Hyperammonemia, 3-Met...	OMIM:246450
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Elevated urinary 3-hydroxybutyric acid, Ketonuria, Hypoglycemia, Hypoargininemia, Hyperglutaminem...	OMIM:615751
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors	ORPHA:101039
Galloway-Mowat Syndrome	Proteinuria, Short stature, Hiatus hernia, Nephrotic syndrome, Nephropathy, Intrauterine growth r...	ORPHA:2065
Systemic Capillary Leak Syndrome	Fatigue, Renal insufficiency, Abdominal pain, Oliguria, Weight loss, Myalgia, Constitutional symp...	ORPHA:188
Combined Oxidative Phosphorylation Deficiency 55	Stage 3 chronic kidney disease, Short stature, Elevated circulating creatine kinase concentration...	OMIM:619743
Pandas	Enuresis, Encopresis, Arthralgia	ORPHA:66624
Pfapa Syndrome	Fatigue, Abdominal pain, Malabsorption, Weight loss, Arthralgia	ORPHA:42642
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Short stature, Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Hypocalciuria, Increased circ...	OMIM:612780
Orthostatic Hypotension 1	Nocturia, Increased blood urea nitrogen, High palate, Hypomagnesemia, Neonatal hypoglycemia	OMIM:223360
Smith-Lemli-Opitz Syndrome	Gastrointestinal dysmotility, Renal cyst, Hypoalbuminemia, Gastroesophageal reflux, Hypocholester...	OMIM:270400
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Cataract, Astigmatism, Polydipsia, Rod-cone dystrophy, P...	OMIM:615986
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypoglycemic seizures, Nephrocalcinosis, Inflammation of the large intestine, Tubulointerstitial ...	ORPHA:79259
Congenital-Onset Steinert Myotonic Dystrophy	Abdominal pain, Encopresis, Obesity, Enuresis, Gastroesophageal reflux, Dysphagia, Decreased body...	ORPHA:589821
Arachnoid Cyst	Back pain, Urinary incontinence, Abdominal pain, Urinary bladder sphincter dysfunction, Sciatica,...	ORPHA:2356
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Cockayne Syndrome	Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen...	ORPHA:191
Multiple System Atrophy 1, Susceptibility To	Urinary urgency, Urinary incontinence	OMIM:146500
Pheochromocytoma--Islet Cell Tumor Syndrome	Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level	OMIM:171420
Dopamine Beta-Hydroxylase Deficiency	Fatigue, Hypoglycemia, Insulin resistance, Elevated urinary dopamine level, Elevated circulating ...	ORPHA:230
Renal Nutcracker Syndrome	Fatigue, Proteinuria, Abdominal pain, Flank pain, Weight loss, Hematuria, Renal artery stenosis, ...	ORPHA:71273
Spastic Paraplegia 78, Autosomal Recessive	Urinary urgency	OMIM:617225
Hyperinsulinemic Hypoglycemia, Familial, 8	Short stature, Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Growth dela...	OMIM:620211
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Intestinal pseudo-obstruction, Multicystic kidney dysplasia, Fetal megacystis, Intrauterine growt...	ORPHA:73246
Thanatophoric Dysplasia, Glasgow Variant	Cataract	OMIM:273680
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti...	ORPHA:263479
Congenital Disorder Of Glycosylation, Type Iif	Aminoaciduria, Proteinuria	OMIM:603585
Pyruvate Carboxylase Deficiency	Increased serum pyruvate, Hyperalaninemia, Hypoglycemia, Proximal renal tubular acidosis	OMIM:266150
Liposarcoma	Fatigue, Weight loss, Abnormality of the kidney, Abdominal pain	ORPHA:69078
Spastic Paraplegia Type 2	Spastic/hyperactive bladder, Bowel incontinence	ORPHA:99015
8p23.1 deletion syndrome	Hyperactivity	DECIPHER:39
Metachromatic Leukodystrophy, Late Infantile Form	Urinary incontinence	ORPHA:309256
Ketamine-Induced Biliary Dilatation	Dysuria, Abdominal pain	ORPHA:293807
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Abdominal pain, Increased body weight, Weigh...	ORPHA:1501
Acute Adrenal Insufficiency	Hyponatremia, Fatigue, Renal insufficiency, Hypoglycemia, Hypercalcemia, Decreased urinary potass...	ORPHA:95409
Aredyld Syndrome	Short stature, Cachexia, Abnormality of the ureter, Type II diabetes mellitus, Type I diabetes me...	ORPHA:1133
Thrombotic Thrombocytopenic Purpura, Hereditary	Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, Increased ...	OMIM:274150
Acute Transverse Myelitis	Back pain, Fatigue, Decreased circulating copper concentration, Urinary incontinence, Paralytic i...	ORPHA:139417
Metachromatic Leukodystrophy, Juvenile Form	Urinary incontinence	ORPHA:309263
Gyrate Atrophy Of Choroid And Retina	Cataract, Chorioretinal degeneration, Chorioretinal hyperpigmentation, Chorioretinal atrophy, Sub...	ORPHA:414
Pediatric Systemic Lupus Erythematosus	Dark urine, Abnormality of the gastrointestinal tract, Renal insufficiency, Proteinuria, Abdomina...	ORPHA:93552
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Anuria, Abdominal pain, Intestinal perforation, Rectal prolapse, Elevated circulati...	ORPHA:90038
Cataract 30, Multiple Types	Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract	OMIM:116300
Metachromatic Leukodystrophy, Adult Form	Urinary incontinence, Bowel incontinence, Neoplasm of the gallbladder	ORPHA:309271
Phosphoglycerate Kinase 1 Deficiency	Exercise intolerance, Renal insufficiency, Exercise-induced myoglobinuria	OMIM:300653
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Hip pain, Urinary bladder sphincter dysfunction, Short stature, Elevated circulating creatine kin...	ORPHA:52430
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Urachal Cyst	Dysuria, Elevated circulating C-reactive protein concentration, Pyuria, Abdominal pain, Urachus f...	ORPHA:488
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Abnormal penis morphology, Fatigue, Dysuria, Oral-pharyngeal dysphagia, Intestinal perforation, V...	ORPHA:95455
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL cholesterol concentrati...	ORPHA:14
Pellagra-Like Syndrome	Cataract	OMIM:260650
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Resting tremor, Hyperactivity, Anorexia, Aggressive behavior, Tremor, Abnormal fear-induced behavior	ORPHA:3077
Ring Chromosome 10 Syndrome	Aganglionic megacolon, Cachexia, Renal hypoplasia/aplasia, Hypocalcemia, Intrauterine growth reta...	ORPHA:1438
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypospadias, Hypoglycemia, Renal salt wasting	OMIM:201910
Aniridia And Absent Patella	Aniridia, Cataract	OMIM:106220
Autosomal Dominant Spastic Paraplegia Type 19	Urinary urgency	ORPHA:100999
Legionnaires Disease	Hyponatremia, Fatigue, Renal insufficiency, Proteinuria, Abdominal pain, Hematuria, Arthralgia, C...	ORPHA:549
Spinocerebellar Ataxia 25	Urinary urgency	OMIM:608703
Intermediate Uveitis	Cataract, Vitreous haze, Band keratopathy, Epiretinal membrane, Vitreous floaters, Macular scar, ...	ORPHA:279914
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalb...	OMIM:614748
Mitochondrial Neurogastrointestinal Encephalomyopathy	Abnormality of the gastrointestinal tract, Small intestinal dysmotility, Cachexia, Abdominal pain...	ORPHA:298
Marburg Hemorrhagic Fever	Abnormality of the gastrointestinal tract, Back pain, Renal insufficiency, Hypoglycemia, Elevated...	ORPHA:99826
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Fatigue, Renal insufficiency, Dysuria, Sudden cardiac death, Malabso...	ORPHA:537
Autosomal Recessive Spastic Paraplegia Type 44	Urinary bladder sphincter dysfunction	ORPHA:320401
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hypoglycemia, Stage 5 chronic kidney disease, Hyperammonemia, Methylmalon...	OMIM:251000
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Macroglossia, Myalgia, Elevated circulating creatine kinase concentration, Exercise-induced myogl...	OMIM:607155
Beta-Ketothiolase Deficiency	Ketonuria, Hypoglycemia, Hyperammonemia, Weight loss, Body odor, Hyperuricemia, Hyperglycemia	ORPHA:134
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Ketonuria, Hypoglycemia, Hyperammonemia, Growth delay, Hyperglycemia, Failure to thrive	OMIM:615453
Macrophage Activation Syndrome	Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir...	ORPHA:158061
Silver-Russell Syndrome	Hypospadias, Short stature, Cachexia, Failure to thrive in infancy, Postnatal growth retardation,...	ORPHA:813
Aniridia 3	Aniridia, Cataract	OMIM:617142
Paroxysmal Nocturnal Hemoglobinuria	Hemosiderinuria, Renal insufficiency, Proteinuria, Esophageal spasms, Decreased serum iron, Odyno...	ORPHA:447
Congenital Disorder Of Glycosylation, Type Iiw	Failure to thrive, Membranoproliferative glomerulonephritis, Microscopic hematuria, Gastroesophag...	OMIM:619525
Pseudomyxoma Peritonei	Abdominal pain, Intestinal obstruction, Weight loss, Inflammation of the large intestine	ORPHA:26790
Epilepsy, Progressive Myoclonic, 10	Urinary incontinence	OMIM:616640
Intellectual Developmental Disorder, Autosomal Dominant 68	Gastroesophageal reflux, High palate, Urinary incontinence, Intrauterine growth retardation	OMIM:619934
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormality of the kidney, Elevated circulating C-reactive protein concentration, Abdominal pain,...	ORPHA:54251
Paroxysmal Nocturnal Hemoglobinuria 2	Fatigue, Paroxysmal nocturnal hemoglobinuria, Arthralgia, Abdominal pain	OMIM:615399
Arnold-Chiari Malformation Type I	Neck pain, Urinary incontinence, Dysphagia	ORPHA:268882
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Acute hyperammonemia, Ketonuria, Hypoglycemia, Hyperglycinuria, Hyperammonemia, Organic aciduria,...	OMIM:210210
Arachnoiditis	Fatigue, Urinary bladder sphincter dysfunction, Arthralgia	ORPHA:137817
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Proteinuria, Chronic kidney disease, Proximal renal tubular acidosis, Thickened glomerular baseme...	OMIM:146255
Mulibrey Nanism	Intrauterine growth retardation, Short stature, Cachexia	ORPHA:2576
Severe Oculo-Renal-Cerebellar Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Short stature	ORPHA:2715
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Ketonuria, Hypoglycemia, Elevated circulating creatine kinase concentration, Oral-pharyngeal dysp...	OMIM:616878
Paroxysmal Cold Hemoglobinuria	Back pain, Abnormal urinary color, Arthralgia, Hemoglobinuria	ORPHA:90035
Cataract 31, Multiple Types	Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract	OMIM:605387
Inflammatory Pseudotumor Of The Liver	Diabetes mellitus, Elevated circulating alpha-fetoprotein concentration, Abdominal pain, Weight l...	ORPHA:90003
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Small intestinal dysmotility, Urinary incontinence, Gastroesophageal reflux, Dysphagia, Achalasia...	OMIM:619482
Hemorrhagic Fever-Renal Syndrome	Back pain, Anuria, Acute tubulointerstitial nephritis, Tubulointerstitial nephritis, Chills, Decr...	ORPHA:340
Schimke Immunoosseous Dysplasia	Renal insufficiency, Proteinuria, Small for gestational age, Disproportionate short-trunk short s...	OMIM:242900
Cronkhite-Canada Syndrome	Intestinal polyposis, Fatigue, Cachexia, Malabsorption, Abdominal pain, Furrowed tongue, Hamartom...	ORPHA:2930
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potassium, Hyperkalemia, Obes...	ORPHA:79102
Imerslund-Gräsbeck Syndrome	Glossitis, Failure to thrive, Proteinuria, Weight loss	ORPHA:35858
Ohdo Syndrome	Proteinuria, Short stature	OMIM:249620
Postinfectious Vasculitis	Abnormal circulating protein concentration, Membranoproliferative glomerulonephritis, Proteinuria...	ORPHA:48435
Pseudoleprechaunism Syndrome, Patterson Type	Bladder diverticulum, Diabetes mellitus, Intrauterine growth retardation	ORPHA:2976
Lymphedema-Distichiasis Syndrome	Glomerulopathy, Recurrent urinary tract infections, Diabetes mellitus, Proteinuria, Cleft palate,...	ORPHA:33001
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Ketonuria, Hypoglycemia, Low plasma citrulline, Renal steatosis, Fasting hypoglycemia, Impaired g...	OMIM:261680
Tyrosinemia, Type I	Hypertyrosinemia, Gastrointestinal hemorrhage, Renal insufficiency, Hypoglycemia, Elevated circul...	OMIM:276700
Acquired Generalized Lipodystrophy	Hypertriglyceridemia, Proteinuria, Insulin-resistant diabetes mellitus, Insulin resistance, Hyper...	ORPHA:79086
Addison Disease	Hyponatremia, Fatigue, Hypoglycemia, Hypercalcemia, Decreased urinary potassium, Renal salt wasti...	ORPHA:85138
Reticular Dysgenesis	Failure to thrive, Weight loss, Malabsorption	ORPHA:33355
Senior-Loken Syndrome 3	Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis	OMIM:606995
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Intestinal fistula, Fatigue, Abdominal pain, Intestinal perforation,...	ORPHA:679
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Fatigue, Weight loss	ORPHA:86893
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria,...	ORPHA:900
Polymyositis	Gastrointestinal hemorrhage, Fatigue, Elevated circulating creatine kinase concentration, Abdomin...	ORPHA:732
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Urinary urgency, Dysphagia	OMIM:601338
Renal Hypodysplasia/Aplasia 1	Bilateral renal agenesis, Proteinuria, Renal dysplasia	OMIM:191830
Pleural Mesothelioma	Constitutional symptom, Chest pain, Weight loss, Dysphagia	ORPHA:50251
Erythrokeratodermia Variabilis	Diabetes mellitus, Short stature, Weight loss	ORPHA:317
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Knee pain, Hypoalbuminemia	OMIM:614441
Hellp Syndrome	Back pain, Fatigue, Shoulder pain, Proteinuria, Abdominal pain, Increased body weight, Hemoglobin...	ORPHA:244242
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Increased serum bile acid concentration, Hyperbilirubinemia, Mild proteinuria	OMIM:619685
Distal Deletion 10Q	Failure to thrive, Short stature, Postnatal growth retardation, Functional abnormality of the bla...	ORPHA:96148
Fabry Disease	Renal insufficiency, Proteinuria, Abdominal pain, Urinary mulberry cells, Delayed puberty, Lipiduria	OMIM:301500
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Malabsorption, Abdominal pain, Xerostomia, Hamartomatous polyposis, Hematochezia, Hypok...	OMIM:175500
Spastic Paraplegia 84, Autosomal Recessive	Urinary urgency, Crohn's disease	OMIM:619621
Adnp Syndrome	Recurrent urinary tract infections, Short stature, Urinary incontinence, Oral-pharyngeal dysphagi...	ORPHA:404448
Primary Biliary Cholangitis	Fatigue, Conjugated hyperbilirubinemia, Celiac disease, Gastrointestinal inflammation, Hypoalbumi...	ORPHA:186
Inflammatory Bowel Disease 11	Hematochezia, Inflammation of the large intestine, Weight loss, Abdominal pain	OMIM:191390
Oculopharyngodistal Myopathy	Oral-pharyngeal dysphagia, High, narrow palate, Weight loss, High palate, Impaired oropharyngeal ...	ORPHA:98897
Cataract 41	Nuclear cataract	OMIM:116400
Cataract, Age-Related Nuclear	Nuclear cataract	OMIM:601371
Cataract 18	Nuclear cataract	OMIM:610019
Parathyroid Carcinoma	Fatigue, Renal insufficiency, Renal hamartoma, Hypercalcemia, Peptic ulcer, Bone pain, Nephrolith...	ORPHA:143
Alport Syndrome 1, X-Linked	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:301050
Spastic Paraplegia 20, Autosomal Recessive	Urinary urgency, Short stature, Dysphagia	OMIM:275900
Enhanced S-Cone Syndrome	Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis	OMIM:268100
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Rod-cone dystrophy, Cataract, Retinal coloboma	OMIM:601794
Hypocomplementemic Urticarial Vasculitis	Glomerulopathy, Renal insufficiency, Proteinuria, Abdominal pain, Hematuria, Myalgia	ORPHA:36412
Cataract 15, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:615274
Cataract 33, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:611391
Aniridia 1	Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia...	OMIM:106210
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Cataract, Optic atrophy, Rod-cone dystrophy, Subcapsular cataract, Intention tremor	OMIM:612674
Hypogonadism-Cataract Syndrome	Cataract	OMIM:240950
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Myoglobinuria	OMIM:602199
Maple Syrup Urine Disease	Increased level of hippuric acid in urine, Hypoglycemia, Elevated circulating branched chain amin...	OMIM:248600
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Hematuria, Limb pain, Proteinuria, Gastrointestinal hemorrhage	OMIM:192315
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Fatigue, Renal insufficiency, Dysuria, Sudden cardiac death, Abdomin...	ORPHA:36426
Cochleosaccular Degeneration-Cataract Syndrome	Cataract	ORPHA:3233
Myopathy With Lactic Acidosis, Hereditary	Exercise intolerance, Myoglobinuria, Elevated circulating creatine kinase concentration	OMIM:255125
Spastic Paraplegia 26, Autosomal Recessive	Urinary urgency	OMIM:609195
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Bladder diverticulum	OMIM:617821
Spastic Ataxia 3, Autosomal Recessive	Urinary urgency, Neurogenic bladder	OMIM:611390
Isaacs Syndrome	Weight loss	ORPHA:84142
Split Cord Malformation	Back pain, Low back pain, Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphinct...	ORPHA:573278
Glutaric Acidemia I	Ketonuria, Hypoglycemia, Glutaric aciduria, Elevated circulating glutaric acid concentration, Fai...	OMIM:231670
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Exercise-induced myalgia, Myoglobinuria, Myalgia, Elevated circulating creatine kinase concentration	ORPHA:206549
Oculoauricular Syndrome	Cone/cone-rod dystrophy, Retinal detachment, Cataract, Sclerocornea, Morning glory anomaly, Rod-c...	OMIM:612109
Melas	Exercise intolerance, Diabetes mellitus, Proteinuria, Intestinal pseudo-obstruction, Short statur...	ORPHA:550
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Chest pain, Hypercalcemia, Weight loss	ORPHA:97289
Woolly Hair	Abnormal pupil morphology, Cataract, Abnormal retinal morphology	ORPHA:170
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Rod-cone dystrophy, Cataract, Retinal coloboma	ORPHA:363741
Acute Monoblastic/Monocytic Leukemia	Fatigue, Oliguria, Weight loss	ORPHA:514
Congenital Enterovirus Infection	Hypoalbuminemia, Hyperammonemia	ORPHA:292
Familial Colorectal Cancer Type X	Gastrointestinal hemorrhage, Renal neoplasm, Fatigue, Malabsorption, Hepatocellular carcinoma, Ab...	ORPHA:440437
Cln3 Disease	Urinary bladder sphincter dysfunction, Dysphagia	ORPHA:228346
Alexander Disease Type Ii	Urinary bladder sphincter dysfunction, Dysphagia	ORPHA:363722
Acro-Renal-Ocular Syndrome	Renal malrotation, Aganglionic megacolon, Renal hypoplasia/aplasia, Postnatal growth retardation,...	ORPHA:959
Okamoto Syndrome	Exaggerated median tongue furrow, Anal stenosis, Urinary incontinence, Intestinal malrotation, Cl...	ORPHA:2729
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Urinary incontinence	ORPHA:314404
Idiopathic Panuveitis	Cataract, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, Vi...	ORPHA:280921
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Hemoglobinuria, Decreased glucose-6-phosphate dehydrogenase level in blood, Unconjugated hyperbil...	OMIM:300908
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Proteinuria, Stage 5 chronic kidney disease	OMIM:219900
Congenital Tufting Enteropathy	Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor...	ORPHA:92050
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Gastroesophageal reflux, Urinary incontinence, Dysphagia	ORPHA:447997
Arima Syndrome	Proteinuria, Polyuria, Esophageal varix, Stage 5 chronic kidney disease, Hematuria, Growth delay,...	OMIM:243910
Cap Polyposis	Atrophic gastritis, Abdominal pain, Weight loss, Hematochezia, Colorectal polyposis	ORPHA:160148
Occipital Horn Syndrome	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Ur...	OMIM:304150
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Short stature, Cachexia	ORPHA:1144
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Cornelia De Lange Syndrome 1	Hypospadias, Proteinuria, Short stature, Ectopic kidney, Malrotation of colon, High, narrow palat...	OMIM:122470
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Colonic diverticula, Elevated circulating deoxyuridine concentration, Intestinal pseudo-obstructi...	OMIM:603041
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Fatigue, Tongue atrophy, Urinary incontinence	ORPHA:466768
Idiopathic Chronic Eosinophilic Pneumonia	Abnormality of the gastrointestinal tract, Elevated circulating C-reactive protein concentration,...	ORPHA:2902
Chronic Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529808
Zollinger-Ellison Syndrome	Increased urinary cortisol level, Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal u...	ORPHA:913
Acute Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529799
Shigellosis	Hyponatremia, Fatigue, Failure to thrive in infancy, Hypoglycemia, Abdominal pain, Hemolytic-urem...	ORPHA:810
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph...	OMIM:221900
Familial Mediterranean Fever	Intestinal obstruction, Proteinuria, Malabsorption, Abdominal pain, Nephrocalcinosis, Nephrotic s...	ORPHA:342
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Proteinuria, Elevated circulating creatinine concentration, Glomerul...	ORPHA:247691
Iatrogenic Botulism	Fatigue, Xerostomia, Urinary retention, Dysphagia	ORPHA:254509
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Abnormal circulating albumin concentration, Fatigue, ...	ORPHA:86839
X-Linked Agammaglobulinemia	Fatigue, Short stature, Malabsorption, Weight loss, Glossoptosis, Hypocalcemia, Failure to thrive	ORPHA:47
Glycogen Storage Disease Xii	Short stature, Elevated circulating creatine kinase concentration, Hemoglobinuria, Hyperbilirubin...	OMIM:611881
Fabry Disease	Fatigue, Glomerulopathy, Renal insufficiency, Proteinuria, Short stature, Malabsorption, Abdomina...	ORPHA:324
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia	Urinary urgency	OMIM:619286
Pheochromocytoma	Hypercalcemia, Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine level	OMIM:171300
3-Hydroxy-3-Methylglutaric Aciduria	Fatigue, Nonketotic hypoglycemia, Ketonuria, Hyperammonemia, Weight loss, 3-Methylglutaric acidur...	ORPHA:20
Orthostatic Hypotension 2	Hypoglycemia, Decreased glomerular filtration rate	OMIM:618182
Symptomatic Form Of Hfe-Related Hemochromatosis	Fatigue, Cholangiocarcinoma, Diabetes mellitus, Abdominal pain, Increased circulating ferritin co...	ORPHA:465508
Kyrle Disease	Posterior subcapsular cataract	OMIM:149500
Cataract 43	Posterior subcapsular cataract	OMIM:616279
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an...	ORPHA:91495
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Hypospadias, Urinary incontinence, Renal agenesis, Short stature, Grade III v...	OMIM:619522
Pearson Syndrome	Renal insufficiency, Diabetes mellitus, Proteinuria, Small for gestational age, Postnatal growth ...	ORPHA:699
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Cachexia, Weight loss, Type I diabetes mellitus, Abnormal circulating lipid concentration, Hyperl...	ORPHA:1979
Tenorio Syndrome	Hypoglycemia, Macroglossia, Enuresis, Gastroesophageal reflux, Hypoinsulinemia	OMIM:616260
Williams-Beuren Syndrome	Rectal prolapse, Sudden death, Nephrocalcinosis, Glucose intolerance, Gastroesophageal reflux, Ve...	OMIM:194050
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Duodenal ulcer, Gastritis, Elevated circulating C-reactive protein concentration...	OMIM:619381
Pelizaeus-Merzbacher Disease	Urinary urgency, Failure to thrive, Short stature, Dysphagia	OMIM:312080
Follicular Lymphoma	Fatigue, Night sweats, Weight loss	ORPHA:545
Chromosome 16Q12 Duplication Syndrome	Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor	OMIM:619649
Moynahan Syndrome	Short stature, Cachexia	ORPHA:2574
Cryptogenic Organizing Pneumonia	Fatigue, Elevated circulating C-reactive protein concentration, Night sweats, Weight loss, Arthra...	ORPHA:1302
Donnai-Barrow Syndrome	Non-acidotic proximal tubulopathy, Proteinuria, Intestinal malrotation	OMIM:222448
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Fatigue, Anuria, Diabetes mellitus, Abdominal pain, Intestinal perforation, Hyperka...	ORPHA:544482
Bladder Exstrophy	Hypoplasia of penis, Recurrent urinary tract infections, Intestinal malrotation, Bowel incontinen...	ORPHA:93930
Intellectual Disability-Alacrima-Achalasia Syndrome	Enuresis, Achalasia, Dysphagia	ORPHA:289483
Wagro Syndrome	Nephroblastoma, Proteinuria, Obesity	OMIM:612469
Multiple Acyl-Coa Dehydrogenase Deficiency	Hypoglycemia, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulo...	OMIM:231680
Giant Cell Arteritis	Fatigue, Renal insufficiency, Sudden cardiac death, Abdominal pain, Weight loss, Hematuria, Gastr...	ORPHA:397
Cockayne Syndrome Type 1	Renal insufficiency, Proteinuria, Postnatal growth retardation, Increased blood urea nitrogen, Fa...	ORPHA:90321
Takayasu Arteritis	Fatigue, Weight loss, Gastrointestinal infarctions, Arthralgia, Myalgia, Chest pain, Gangrene	ORPHA:3287
Nail-Patella Syndrome	Back pain, Renal insufficiency, Proteinuria, Glomerulonephritis, Short stature, Cleft palate, Hem...	OMIM:161200
Spinocerebellar Ataxia, Autosomal Recessive 7	Urinary urgency, Dysphagia	OMIM:609270
Caroli Disease	Cholangiocarcinoma, Abdominal pain, Conjugated hyperbilirubinemia, Esophageal varix, Abdominal ri...	ORPHA:53035
Botulism	Fatigue, Abdominal pain, Xerostomia, Urinary retention, Dysphagia	ORPHA:1267
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Growth delay, Failure to thrive, Hypoalbuminemia, Smooth tongue	ORPHA:79396
Mirage Syndrome	Hyponatremia, Recurrent urinary tract infections, Hypospadias, Short stature, Hypoglycemia, Esoph...	OMIM:617053
Cocaine Intoxication	Proteinuria, Glomerulonephritis, Elevated circulating creatine kinase concentration, Abdominal pa...	ORPHA:90068
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Transient aminoaciduria, Hyperphosphaturia, Hypoglycemia, Abdominal ...	OMIM:229600
Amelogenesis Imperfecta, Type Ig	Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis	OMIM:204690
Huntington Disease-Like 2	Weight loss	OMIM:606438
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Short stature, Abnormality of the kidney, Cleft palate, Tubulointerstitial nephritis, Enuresis	ORPHA:459061
Multicentric Reticulohistiocytosis	Cachexia	ORPHA:139436
Bardet-Biedl Syndrome 20	Hypercholesterolemia, Micropenis, Proteinuria, Obesity	OMIM:619471
Menkes Disease	Gastrointestinal hemorrhage, Fatigue, Hypoglycemia, Malabsorption, Bladder diverticulum, Intraute...	ORPHA:565
Cutis Laxa, Autosomal Recessive, Type Ia	Bladder diverticulum	OMIM:219100
Anemia, Congenital Dyserythropoietic, Type Iv	Hypospadias, Short stature, Weight loss, Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Mic...	OMIM:613673
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Short stature, Elevated circulating creatine kinase conce...	OMIM:309000
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Cachexia, Renal salt wasting, Abdominal pain, Abnormal urine ...	ORPHA:275761
Celiac Disease, Susceptibility To, 1	Short stature, Abdominal pain, Celiac disease, Postnatal growth retardation, Weight loss, Arthral...	OMIM:212750
Autosomal Dominant Spastic Paraplegia Type 10	Urinary urgency, Spastic/hyperactive bladder	ORPHA:100991
Malignant Hyperthermia Of Anesthesia	Myoglobinuria, Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise, Acute ki...	ORPHA:423
Pelizaeus-Merzbacher Disease	Short stature, Failure to thrive in infancy, Cachexia, Bowel incontinence, Abnormality of the uri...	ORPHA:702
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hemoglobinuria, Increased circulating ferritin concentration	OMIM:194380
Hereditary Late-Onset Parkinson Disease	Weight loss, Spastic/hyperactive bladder, Dysphagia	ORPHA:411602
Autosomal Recessive Cutis Laxa Type 1	Recurrent urinary tract infections, Severe short stature, Pyloric stenosis, Pyelonephritis, Ureth...	ORPHA:90349
Kufor-Rakeb Syndrome	Fatigue, Urinary incontinence, Bowel incontinence, Dysphagia	ORPHA:306674
Gaucher Disease Type 1	Proteinuria, Abdominal pain, Bone pain, Hematuria, Growth delay, Delayed puberty	ORPHA:77259
Acute Promyelocytic Leukemia	Fatigue, Abdominal pain, Bone pain, Weight loss, Hematuria, Gangrene	ORPHA:520
Meningioma	Back pain, Urinary incontinence, Trigeminal neuralgia, Ear pain, Obesity, Neoplasm of the tongue	ORPHA:2495
Goodpasture Syndrome	Fatigue, Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Increased blood urea ...	OMIM:233450
Huntington Disease	Abnormal circulating cholesterol concentration, Weight loss, Decreased body mass index, Oral-phar...	ORPHA:399
Tubulointerstitial Nephritis And Uveitis Syndrome	Elevated circulating C-reactive protein concentration, Flank pain, Sterile pyuria, Renal intersti...	ORPHA:91500
Spondyloenchondrodysplasia	Proteinuria, Short stature, Chronic kidney disease, Disproportionate short-trunk short stature, H...	ORPHA:1855
Wound Botulism	Urinary retention, Dysphagia	ORPHA:178475
Benign Recurrent Intrahepatic Cholestasis	Fatigue, Abdominal pain, Weight loss, Acholic stools, Hepatocellular carcinoma	ORPHA:65682
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Renal insufficiency, Proteinuria, Short stature, Conjugated hyperbilirubinemia, Chronic kidney di...	OMIM:208500
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-...	ORPHA:1876
Late-Onset Isolated Acth Deficiency	Hyponatremia, Fatigue, Hypoglycemia, Hypercalcemia, Abdominal pain, Celiac disease, Hyperkalemia,...	ORPHA:199299
Acute Myelomonocytic Leukemia	Weight loss	ORPHA:517
Thymoma	Glomerulonephritis, Night sweats, Ulcerative colitis, Weight loss, Chest pain, Myalgia, Neoplasm ...	ORPHA:99867
Nail-Patella Syndrome	Back pain, Renal insufficiency, Proteinuria, Abnormality of the kidney, Knee pain, Stage 5 chroni...	ORPHA:2614
Alexander Disease Type I	Failure to thrive, Cachexia, Dysphagia	ORPHA:363717
Martin-Probst Syndrome	Renal insufficiency, Proteinuria, Short stature, Chordee, Micropenis	OMIM:300519
Rheumatoid Arthritis	Fatigue, Arthralgia, Elevated circulating C-reactive protein concentration, Weight loss	OMIM:180300
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Failure to thrive in infancy, Proportionate short stature, Hyperkalemia, Weight los...	ORPHA:171876
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria	ORPHA:86818
Blepharophimosis-Impaired Intellectual Development Syndrome	Enuresis, Recurrent urinary tract infections, Hypospadias, Gastroesophageal reflux	OMIM:619293
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Villous atrophy, Short stature, Functional abnormality of the bladder, Esophageal carcinoma, Ente...	ORPHA:391487
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paroxysmal nocturnal hemoglobinuria	OMIM:612300
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Fatigue, Elevated circulating C-reactive protein concentration, Bone pain, Weight loss, Inflammat...	ORPHA:324964
Pyomyositis	Renal insufficiency, Myalgia, Sudden cardiac death, Weight loss	ORPHA:764
Immunoglobulin A Vasculitis	Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Proteinuria, Abdominal pain, He...	ORPHA:761
Williams Syndrome	Hypoplasia of penis, Elevated circulating creatine kinase concentration, Rectal prolapse, Abnorma...	ORPHA:904
Biliary, Renal, Neurologic, And Skeletal Syndrome	Dark urine, Renal insufficiency, Failure to thrive, Short stature, Conjugated hyperbilirubinemia,...	OMIM:619534
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemoglobinuria	OMIM:266120
Cystic Echinococcosis	Fatigue, Renal cyst, Weight loss, Membranous nephropathy, Hyperbilirubinemia, Epigastric pain	ORPHA:400
Insensitivity To Pain, Congenital, With Anhidrosis	Hyperactivity, Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corn...	OMIM:256800
8P23.1 Microdeletion Syndrome	Hypospadias, Short stature, Obesity, Weight loss, Growth delay, High palate, Intrauterine growth ...	ORPHA:251071
Inhalational Botulism	Fatigue, Xerostomia, Urinary retention	ORPHA:254504
Foodborne Botulism	Xerostomia, Abdominal pain, Urinary retention, Dysphagia	ORPHA:228371
Hereditary Central Diabetes Insipidus	Growth delay, Weight loss	ORPHA:30925
Juvenile Huntington Disease	Weight loss	ORPHA:248111
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Fatigue, Malabsorption, Abdominal pain, Bone pain, Weight loss, Arth...	ORPHA:98850
Wolfram Syndrome	Gastrointestinal hemorrhage, Recurrent urinary tract infections, Diabetes mellitus, Dysuria, Mala...	ORPHA:3463
Pituitary Stalk Interruption Syndrome	Hypoplasia of penis, Short stature, Hypoglycemia, Delayed puberty, Failure to thrive	ORPHA:95496
Lymphatic Filariasis	Fatigue, Proteinuria, Glomerulonephritis, Abnormality of the kidney, Hematuria, Nephrotic syndrom...	ORPHA:2035
Malignant Peritoneal Mesothelioma	Weight loss, Ileus, Abdominal pain	ORPHA:168811
Erdheim-Chester Disease	Fatigue, Renal insufficiency, Dysuria, Abdominal pain, Bone pain, Weight loss, Hydronephrosis	ORPHA:35687
Mast Cell Sarcoma	Fatigue, Weight loss	ORPHA:66661
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Malabsorption, Abdominal pain, Esophageal va...	ORPHA:131
Pure Mitochondrial Myopathy	Exercise intolerance, Myalgia, Recurrent myoglobinuria	ORPHA:254854
Oculocerebrorenal Syndrome Of Lowe	Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Gastroesophageal reflux, Hypo...	ORPHA:534
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Spastic/hyperactive bladder	ORPHA:137898
Isolated Ectopia Lentis	Ectopia pupillae, Cataract, Ectopia lentis	ORPHA:1885
Riddle Syndrome	Short stature, Elevated circulating alpha-fetoprotein concentration, Abdominal pain, Weight loss,...	ORPHA:420741
Holoprosencephaly	Hyponatremia, Hypoplasia of penis, Median cleft lip and palate, Proteinuria, Failure to thrive in...	ORPHA:2162
Drug Reaction With Eosinophilia And Systemic Symptoms	Tubulointerstitial nephritis, Renal insufficiency, Nephrotic syndrome, Weight loss	ORPHA:139402
Musculocontractural Ehlers-Danlos Syndrome	Functional abnormality of the bladder, Malrotation of small bowel, Nephrolithiasis, Horseshoe kid...	ORPHA:2953
Paroxysmal Nocturnal Hemoglobinuria 1	Paroxysmal nocturnal hemoglobinuria	OMIM:300818
19Q13.11 Microdeletion Syndrome	Hypospadias, Cachexia, Growth delay, Intrauterine growth retardation, Failure to thrive	ORPHA:217346
Christianson Syndrome	Gastroesophageal reflux, Cachexia, Dysphagia	ORPHA:85278
Mitochondrial Complex I Deficiency, Nuclear Type 32	Hyponatremia, Failure to thrive, Small for gestational age, Patent urachus	OMIM:618252
X-Linked Adrenoleukodystrophy	Neurogenic bladder, Urinary bladder sphincter dysfunction	ORPHA:43
Machado-Joseph Disease	Urinary bladder sphincter dysfunction, Chronic pain, Dysphagia	OMIM:109150
Cataract 32, Multiple Types	Anterior polar cataract	OMIM:115650
Classic Hodgkin Lymphoma	Fatigue, Chest pain, Bone pain, Weight loss	ORPHA:391
Ileal Neuroendocrine Tumor	Intestinal fistula, Functional intestinal obstruction, Chronic fatigue, Gastrointestinal obstruct...	ORPHA:100078
Alveolar Echinococcosis	Fatigue, Low back pain, Abdominal pain, Renal cyst, Weight loss, Chest pain, Asthenia, Epigastric...	ORPHA:284
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Absence of Stensen du...	OMIM:129900
Immunodeficiency 58	Fatigue, Helicobacter pylori infection, Short stature, Dysuria, Colitis, Esophagitis, Dysphagia, ...	OMIM:618131
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Hydroureter, Recu...	ORPHA:79404
Bone Dysplasia, Lethal Holmgren Type	Severe short-limb dwarfism, Failure to thrive, Rhizomelia, Weight loss	ORPHA:1842
Anaplastic Thyroid Carcinoma	Pain, Weight loss, Tracheoesophageal fistula, Dysphagia	ORPHA:142
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia	ORPHA:157973
Kaposi Sarcoma	Abnormality of the gastrointestinal tract, Fatigue, Weight loss	ORPHA:33276
Agel Amyloidosis	Xerostomia, Tongue atrophy, Proteinuria, Stage 5 chronic kidney disease	ORPHA:85448
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Gastrointestinal hemorrhage, Bladder diverticulum, Decreased urinary lysyl-pyridinoline-hydroxyly...	OMIM:225400
Desmoplastic Small Round Cell Tumor	Weight loss, Ileus, Cachexia, Abdominal pain	ORPHA:83469
Enamel-Renal Syndrome	Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En...	ORPHA:1031
Eosinophilic Fasciitis	Fatigue, Arthralgia, Myalgia, Weight loss	ORPHA:3165
Mcdonough Syndrome	Short stature, Cachexia	ORPHA:2471
Spinocerebellar Ataxia Type 10	Urinary urgency	ORPHA:98761
Whipple Disease	Hyponatremia, Fatigue, Gastrointestinal hemorrhage, Cachexia, Malabsorption, Abdominal pain, Insu...	ORPHA:3452
Neurodegeneration With Brain Iron Accumulation 1	Urinary incontinence, Dysphagia	OMIM:234200
Autosomal Dominant Progressive External Ophthalmoplegia	Fatigue, Exercise intolerance, Diabetes mellitus, Elevated circulating creatine kinase concentrat...	ORPHA:254892
Cutis Laxa, Autosomal Recessive, Type Ic	Pyloric stenosis, Rectal prolapse, Growth delay, Gastroesophageal reflux, Multiple bladder divert...	OMIM:613177
Parkinson Disease, Late-Onset	Urinary urgency, Dysphagia	OMIM:168600
X-Linked Creatine Transporter Deficiency	Aganglionic megacolon, Short stature, Cachexia, Abnormal circulating creatine concentration, Ileus	ORPHA:52503
Secondary Syringomyelia	Back pain, Pseudobulbar paralysis, Dysuria	ORPHA:99857
Friedreich Ataxia	Diabetes mellitus, Urinary bladder sphincter dysfunction, Dysphagia	ORPHA:95
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Urethral stricture, Renal insufficiency, Glomerulonephritis, Anal fissure, Chronic kidney disease...	ORPHA:79408
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Rod-cone dys...	OMIM:268315
Thymic Carcinoma	Fatigue, Chest pain, Weight loss	ORPHA:99868
Lymphoid Interstitial Pneumonia	Fatigue, Failure to thrive, Enlarged kidney, Weight loss	ORPHA:79128
Bullous Pemphigoid	Diabetes mellitus, Weight loss	ORPHA:703
Acquired Hypertrichosis Lanuginosa	Macroglossia, Glossitis, Weight loss	ORPHA:2221
Familial Pancreatic Carcinoma	Back pain, Diabetes mellitus, Intestinal pseudo-obstruction, Functional intestinal obstruction, C...	ORPHA:1333
Riboflavin Transporter Deficiency	Cachexia, Dysphagia	ORPHA:97229
Mandibuloacral Dysplasia Progeroid Syndrome	Hypertriglyceridemia, Proteinuria, Elevated hemoglobin A1c, Short stature, Postnatal growth retar...	OMIM:619127
Lynch Syndrome	Intestinal polyposis, Gastrointestinal hemorrhage, Fatigue, Malabsorption, Abdominal pain, Weight...	ORPHA:144
Tetrasomy 12P	Abnormal soft palate morphology, Cachexia, Short stature, Anal atresia	ORPHA:884
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Proteinuria, Intestinal malrotation, Hiatus hernia, Encopresis, Gastroesophageal reflux, Volvulus	OMIM:616682
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Fatigue, Renal insufficiency, Abdominal pain, Malabsorption, Weight ...	ORPHA:79430
Wolman Disease	Growth delay, Esophageal varix, Cachexia, Steatorrhea	ORPHA:75233
Glycerol Kinase Deficiency	Increased urinary glycerol, Short stature, Hypertriglyceridemia, Hyperglycerolemia, Small for ges...	OMIM:307030
Laryngotracheoesophageal Cleft Type 4	Tracheoesophageal fistula, Cachexia, Intestinal atresia	ORPHA:93941
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Hydroureter, Hypospadias, Intestinal malrotation, Esophageal atresia, Dilatation of the renal pel...	OMIM:265380
Parkinson Disease 1, Autosomal Dominant	Urinary urgency, Dysphagia	OMIM:168601
Carney-Stratakis Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo...	ORPHA:97286
Autosomal Dominant Cutis Laxa	Unilateral renal agenesis, Postnatal growth retardation, Pyelonephritis, Bladder diverticulum, Sm...	ORPHA:90348
Immunodeficiency 31C	Fatigue, Villous atrophy, Diabetes mellitus, Short stature, Weight loss, Gastrointestinal eosinop...	OMIM:614162
Primary Hepatic Neuroendocrine Carcinoma	Chronic fatigue, Elevated circulating alpha-fetoprotein concentration, Night sweats, Episodic abd...	ORPHA:100085
African Trypanosomiasis	Fatigue, Rigors, Renal insufficiency, Urinary incontinence, Weight loss, Arthralgia	ORPHA:3385
Allergic Bronchopulmonary Aspergillosis	Weight loss	ORPHA:1164
Spastic Ataxia, Charlevoix-Saguenay Type	Urinary urgency	OMIM:270550
Spinocerebellar Ataxia 1	Urinary bladder sphincter dysfunction, Dysphagia	OMIM:164400
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Bladder diverticulum, Cleft soft palate	OMIM:614557
Idiopathic Bronchiectasis	Halitosis, Chest pain, Cachexia	ORPHA:60033
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Intrauterine growth retardation, Failure to thrive in infancy, Cachexia	OMIM:616801
Peripheral Primitive Neuroectodermal Tumor	Back pain, Elevated carcinoma antigen 125 level, Elevated circulating alpha-fetoprotein concentra...	ORPHA:370348
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia, Weight loss	OMIM:188580
Pierson Syndrome	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp...	OMIM:609049
Autoimmune Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Fatigue, Intraalveolar phospholipid accumulation, Wei...	ORPHA:747
Osteosarcoma	Pain, Weight loss	ORPHA:668
Chronic Graft Versus Host Disease	Phimosis, Abdominal pain, Urinary bladder inflammation, Esophageal stricture, Xerostomia, Weight ...	ORPHA:99921
Wilson Disease	Back pain, Bone pain, Increased body weight, Weight loss, Arthralgia, Failure to thrive	ORPHA:905
Pulmonary Alveolar Microlithiasis	Fatigue, Calcium nephrolithiasis, Abnormal circulating calcium concentration, Weight loss, Hematu...	ORPHA:60025
Alström Syndrome	Urinary incontinence, Functional abnormality of the bladder, Gastroesophageal reflux, Micropenis,...	ORPHA:64
Mowat-Wilson Syndrome	Urinary incontinence, Cleft hard palate, Gastrointestinal dysmotility, Vesicoureteral reflux, Web...	ORPHA:2152
Juvenile Dermatomyositis	Calcinosis, Gastrointestinal hemorrhage, Fatigue, Elevated circulating creatine kinase concentrat...	ORPHA:93672
Huntington Disease-Like 1	Weight loss	ORPHA:157941
Occipital Horn Syndrome	Recurrent urinary tract infections, Hiatus hernia, High, narrow palate, Bladder diverticulum, Gas...	ORPHA:198
Felty Syndrome	Recurrent urinary tract infections, Arthralgia, Weight loss	ORPHA:47612
Perry Syndrome	Weight loss	ORPHA:178509
Flynn-Aird Syndrome	Type II diabetes mellitus, Cachexia	ORPHA:2047
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Elevated circulating C-reactive protein concentration, Abdominal pain, Periana...	OMIM:301074
Gaucher Disease Type 3	Fatigue, Proteinuria, Bone pain, Hematuria, Growth delay, Delayed puberty	ORPHA:77261
Cockayne Syndrome B	Renal insufficiency, Severe short stature, Proteinuria, Small for gestational age, Postnatal grow...	OMIM:133540
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Hypokalemia, Weight loss	OMIM:613239
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Short stature, Neonatal hypoglycemia, Renal salt wasting, Long penis, Hyperkalemia,...	ORPHA:90794
Orofaciodigital Syndrome I	Proteinuria, Short stature, Hamartoma of tongue, Cleft palate, Tongue nodules, Lobulated tongue, ...	OMIM:311200
Pulmonary Non-Tuberculous Mycobacterial Infection	Chest pain, Asthenia, Weight loss	ORPHA:411703
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Multicystic kidney dysplasia, Failure to thrive, Hypospadias, Urinary incontinence, Aganglionic m...	ORPHA:261537
Glossopharyngeal Neuralgia	Episodic pain, Oral-pharyngeal dysphagia, Ear pain, Odynophagia, Weight loss, Tongue pain, Mandib...	ORPHA:221098
Fanconi Anemia	High palate, Hypospadias, Short stature, Aplasia/Hypoplasia of the uvula, Meckel diverticulum, Re...	ORPHA:84
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Short stature, Cachexia	ORPHA:1389
Chronic Beryllium Disease	Fatigue, Weight loss	ORPHA:133
X-Linked Intellectual Disability, Cabezas Type	Hypoplasia of penis, Short stature, Cachexia, Obesity, High palate	ORPHA:85293
Gaucher Disease	Fatigue, Proteinuria, Short stature, Elevated circulating C-reactive protein concentration, Abdom...	ORPHA:355
Peritoneal Cystic Mesothelioma	Weight loss, Abdominal pain	ORPHA:168816
Oromandibular Dystonia	Pain, Weight loss, Dysphagia	ORPHA:93958
Relapsing Polychondritis	Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Anteriorly placed anus, Arthralgia, ...	ORPHA:728
Kyphoscoliotic Ehlers-Danlos Syndrome	Bladder diverticulum, High palate, Short stature	ORPHA:536545
Graves Disease, Susceptibility To, 1	Weight loss	OMIM:275000
Pmm2-Cdg	Proteinuria, Reduced thyroxin-binding globulin, Insulin resistance, Hyperinsulinemia, Nephrotic s...	ORPHA:79318
Neuropathy, Congenital Hypomyelinating, 3	Gastroesophageal reflux, Cachexia, High palate, Narrow palate	OMIM:618186
Gm1 Gangliosidosis	Short stature, Weight loss, Macroglossia, Arthralgia, Gastroesophageal reflux, Dysphagia, Failure...	ORPHA:354
Aymé-Gripp Syndrome	Postnatal growth retardation, Short stature, Proteinuria, Cleft palate	ORPHA:1272
Short Syndrome	Diabetes mellitus, Insulin resistance, Severe short stature, Weight loss	ORPHA:3163
Vater/Vacterl Association	Renal dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, Postnatal growth retardation, Esoph...	OMIM:192350
Sympathetic Ophthalmia	Papilledema, Retinal detachment, Cataract, Vitreous floaters, Vitritis, Retinal hemorrhage, Macul...	ORPHA:79098
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Hematemesis, Increased circulating ferritin concentration, Weight loss, Hemat...	OMIM:615846
Deafness-Lymphedema-Leukemia Syndrome	Fatigue, Weight loss	ORPHA:3226
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Urinary incontinence, Cleft hard palate, Vesicoureteral reflux, Webbed penis, Micropenis, Pelvic ...	ORPHA:261552
Classic Pantothenate Kinase-Associated Neurodegeneration	Weight loss, Dysphagia	ORPHA:216866
Cockayne Syndrome A	Renal insufficiency, Proteinuria, Short stature, Severe postnatal growth retardation, Intrauterin...	OMIM:216400
Orofaciodigital Syndrome Type 1	Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Hamartoma of tongue, Cleft palate...	ORPHA:2750
Parkes Weber Syndrome	Back pain, Nephrotic syndrome, Abnormality of the urinary system, Urinary retention, Abnormal B-t...	ORPHA:90307
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss	ORPHA:312
Trisomy 18	Short stature, Abnormality of the upper urinary tract, Cachexia, Esophageal atresia, Narrow palat...	ORPHA:3380
Acrodermatitis Enteropathica	Short stature, Malabsorption, Furrowed tongue, Weight loss, Failure to thrive, Glossitis	ORPHA:37
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Chest pain, Weight loss	ORPHA:79127
Vipoma	Diabetes mellitus, Chronic fatigue, Hypercalcemia, Malabsorption, Episodic abdominal pain, Hemato...	ORPHA:97282
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Severe failure to thrive, Intrauterine growth retardation, Short stature, Cachexia	ORPHA:371364
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	High, narrow palate, Obesity, Macroglossia, Enuresis, Failure to thrive	ORPHA:369950
Q Fever	Fatigue, Night sweats, Weight loss, Hematuria, Myalgia	ORPHA:781
Kawasaki Disease	Fatigue, Proteinuria, Abdominal pain, Sterile pyuria, Arthralgia, Glossitis	ORPHA:2331
Loeffler Endocarditis	Fatigue, Chest pain, Weight loss	ORPHA:75566
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Short stature, Celiac disease, Hyperlipidemia, Gastrointestinal dysmotility, Hyperk...	ORPHA:293987
Behçet Disease	Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Fatigue, Malabsorption, Abdomin...	ORPHA:117
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia, Duodenal ulcer, Steatorrhea, Malabsorption	ORPHA:3217
Autosomal Dominant Optic Atrophy And Cataract	Resting tremor, Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Postural tr...	ORPHA:67036
Histidinemia	Hyperactivity	ORPHA:2157
Brucellosis	Abnormality of the gastrointestinal tract, Fatigue, Small for gestational age, Glomerulonephritis...	ORPHA:1304
Somatostatinoma	Gastrointestinal hemorrhage, Intestinal obstruction, Diabetes mellitus, Chronic fatigue, Hypercal...	ORPHA:97283
Classical Ehlers-Danlos Syndrome	Fatigue, Hiatus hernia, Rectal prolapse, Bladder diverticulum, Limb pain, Arthralgia, Gastroesoph...	ORPHA:287
Microsporidiosis	Cachexia, Abdominal pain, Urethritis, Weight loss, Abnormality of the urinary system physiology, ...	ORPHA:2552
Crimean-Congo Hemorrhagic Fever	Proteinuria, Elevated circulating creatine kinase concentration, Abdominal pain, Hematemesis, Ocu...	ORPHA:99827
Klatskin Tumor	Fatigue, Cholangiocarcinoma, Weight loss, Abdominal pain	ORPHA:99978
Nodular Non-Suppurative Panniculitis	Weight loss, Arthralgia, Myalgia, Abdominal pain	ORPHA:33577
Parkinson Disease 14, Autosomal Recessive	Elevated circulating creatine kinase concentration, Nocturia	OMIM:612953
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Exercise intolerance, Intestinal pseudo-obstruction, Weight loss, Dysphagia, Mildly elevated crea...	OMIM:607459
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Fatigue, Chills, Weight loss	ORPHA:86884
Cataract 23, Multiple Types	Lamellar cataract	OMIM:610425
Familial Gestational Hyperthyroidism	Hyperactivity, Agitation, Hand tremor	ORPHA:99819
Systemic Lupus Erythematosus	Hematuria, Proteinuria, Lupus nephritis, Pyuria	ORPHA:536
Multiple Endocrine Neoplasia Type 1	Duodenal ulcer, Hypercalcemia, Peptic ulcer, Abdominal pain, Hematemesis, Hypercalciuria, Nephrol...	ORPHA:652
Glucagonoma	Gastrointestinal hemorrhage, Intestinal obstruction, Diabetes mellitus, Chronic fatigue, Hypercal...	ORPHA:97280
Bannayan-Riley-Ruvalcaba Syndrome	Intestinal polyposis, Short stature, Hypoglycemia, Abnormal large intestine morphology, Cachexia,...	ORPHA:109
Adult-Onset Autosomal Dominant Leukodystrophy	Recurrent urinary tract infections, Urinary urgency, Urinary retention, Myalgia, Dysphagia	ORPHA:99027
Tropical Endomyocardial Fibrosis	Fatigue, Hypoalbuminemia, Cachexia	ORPHA:75565
Systemic Mastocytosis With Associated Hematologic Neoplasm	Fatigue, Peptic ulcer, Abdominal pain, Bone pain, Weight loss, Arthralgia, Myalgia	ORPHA:98849
7Q11.23 Microduplication Syndrome	Hypospadias, Short stature, Unilateral renal agenesis, Obesity, Growth delay, Enuresis, High pala...	ORPHA:96121
Schwartz-Jampel Syndrome	Short stature, Elevated circulating creatine kinase concentration, Cachexia, Abnormality of the u...	ORPHA:800
Reactive Arthritis	Recurrent urinary tract infections, Abdominal pain, Weight loss, Inflammation of the large intest...	ORPHA:29207
Medullary Thyroid Carcinoma	Weight loss, Dysphagia	ORPHA:1332
Superficial Siderosis	Back pain, Functional abnormality of the bladder	ORPHA:247245
Primary Myelofibrosis	Fatigue, Flank pain, Constitutional symptom, Cachexia	ORPHA:824
Sacral Defect With Anterior Meningocele	Back pain, Rectal abscess, Neurogenic bladder, Urinary retention	OMIM:600145
Neuroendocrine Tumor Of The Colon	Melena, Weight loss, Abdominal pain	ORPHA:100080
Neuroendocrine Tumor Of The Rectum	Hematochezia, Abdominal pain, Weight loss, Melena	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hematochezia, Abdominal pain, Weight loss, Melena	ORPHA:100082
Pancreatoblastoma	Weight loss, Elevated maternal serum alpha-fetoprotein, Abdominal pain	ORPHA:677
Polycythemia Vera	Gastrointestinal hemorrhage, Fatigue, Abdominal pain, Weight loss, Arthralgia	ORPHA:729
Poems Syndrome	Fatigue, Pain, Diabetes mellitus, Weight loss	ORPHA:2905
Perry Syndrome	Weight loss	OMIM:168605
Ppoma	Gastrointestinal hemorrhage, Intestinal obstruction, Hypercalcemia, Episodic abdominal pain, Weig...	ORPHA:97278
Rett Syndrome	Cachexia, Gastroesophageal reflux, Short stature	OMIM:312750
Camurati-Engelmann Disease	Cachexia, Bone pain, Urinary retention, Delayed puberty, Slender build	ORPHA:1328
Pemphigus Vulgaris	Weight loss	ORPHA:704
Tropical Pancreatitis	Epigastric pain, Insulin-dependent but ketosis-resistant diabetes, Maternal diabetes, Weight loss	ORPHA:103918
Sarcoidosis, Susceptibility To, 1	Hypercalciuria, Weight loss, Inflammation of the large intestine, Chest pain, Abnormal salivary g...	OMIM:181000
Isolated Posterior Meningocele	Enuresis, Bowel incontinence	ORPHA:268810
Pancreatic Triacylglycerol Lipase Deficiency	Fatigue, Abdominal pain, Weight loss, Growth delay, Colitis, Steatorrhea	ORPHA:309031
Bronchial Neuroendocrine Tumor	Chest pain, Night sweats, Weight loss	ORPHA:97287
Norrie Disease	Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto...	ORPHA:649
Grfoma	Gastrointestinal hemorrhage, Intestinal obstruction, Hypercalcemia, Episodic abdominal pain, Weig...	ORPHA:97261
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Infantile Krabbe Disease	Failure to thrive, Gastroesophageal reflux, Cachexia	ORPHA:206436
Sarcoidosis	Abnormality of the gastrointestinal tract, Fatigue, Renal insufficiency, Hypercalcemia, Nephrolit...	ORPHA:797
Neuroendocrine Tumor Of Stomach	Hematemesis, Weight loss, Melena, Episodic abdominal pain, Zollinger-Ellison syndrome	ORPHA:100075
Oculopharyngodistal Myopathy 1	Weight loss, High palate, Elevated circulating creatine kinase concentration, Dysphagia	OMIM:164310
Pneumocystosis	Weight loss	ORPHA:723
Igg4-Related Dacryoadenitis And Sialadenitis	Fatigue, Xerostomia, Weight loss, Enlargement of parotid gland, Tubulointerstitial nephritis, Abn...	ORPHA:79078
Vascular Ehlers-Danlos Syndrome	Hypospadias, Short stature, High, narrow palate, Cystocele, Renovascular hypertension, Bladder di...	ORPHA:286
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Weight loss, Chronic fatigue, Episodic abdominal pain	ORPHA:100086
Granulomatosis With Polyangiitis	Fatigue, Weight loss, Asthenia, Myalgia, Gangrene	OMIM:608710
Cushing Syndrome Due To Ectopic Acth Secretion	Increased urinary cortisol level, Malignant gastrointestinal tract tumors, Diabetes mellitus, Imp...	ORPHA:99889
Kikuchi-Fujimoto Disease	Abnormality of the gastrointestinal tract, Fatigue, Elevated circulating C-reactive protein conce...	ORPHA:50918
Rat-Bite Fever	Back pain, Rigors, Weight loss, Arthralgia, Myalgia, Chills, Parotitis	ORPHA:31205
Fryns-Smeets-Thiry Syndrome	Short stature, Cachexia	ORPHA:2058
Gerstmann-Straussler Disease	Weight loss	OMIM:137440
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Small for gestational age, Weight loss	ORPHA:424
Familial Thrombocytosis	Chest pain, Weight loss	ORPHA:71493
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Mild postnatal growth retardation, Arthralgia, Myalgia, Weight loss	ORPHA:85408
Congenital Fiber-Type Disproportion Myopathy	Fatigue, Weight loss, High palate, Dysphagia, Failure to thrive	ORPHA:2020
Mucolipidosis Type Ii	Postnatal growth retardation, Short stature, Weight loss	ORPHA:576
Malt Lymphoma	Fatigue, Weight loss, Abdominal pain	ORPHA:52417
Dermatomyositis	Fatigue, Gastrointestinal stroma tumor, Weight loss, Arthralgia, Myalgia, Gangrene	ORPHA:221
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Failure to thrive, Cleft soft palate, Unilateral renal agenesis, Esophageal varix, Dysphagia, Uri...	OMIM:619503
Tsh-Secreting Pituitary Adenoma	Fatigue, Hypokalemia, Weight loss, Delayed puberty	ORPHA:91347
Seckel Syndrome	Intrauterine growth retardation, Short stature, Cachexia	ORPHA:808
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Cachexia, Short hard palate, Short stature	ORPHA:1969
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Short stature, Cachexia	ORPHA:220295
Nocardiosis	Fatigue, Ocular pain, Night sweats, Weight loss, Chest pain, Chills	ORPHA:31204
Hutchinson-Gilford Progeria Syndrome	Hip pain, Insulin resistance, Weight loss, High palate, Severe failure to thrive, Delayed menarch...	ORPHA:740
Stickler Syndrome	Short stature, Slender build, Cachexia, Bone pain, Cleft palate, Macroglossia, Glossoptosis, Arth...	ORPHA:828
Marfan Syndrome	Arthralgia/arthritis, Chronic fatigue, Cachexia, High, narrow palate, Cleft palate, Myalgia, Slen...	ORPHA:558
Choreoacanthocytosis	Weight loss, Elevated circulating creatine kinase concentration, Dysphagia, Protruding tongue	ORPHA:2388
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Cachexia, Esophageal varix, Growth delay, Gastric ulcer, Delayed puberty	ORPHA:2072
Proteus Syndrome	Sudden cardiac death, Cachexia, Long penis, Renal cyst	ORPHA:744

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Hpse2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Hpse2.

No publications found that use IMPC mice or data for Hpse2.

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MGI Allele	Allele Type	Produced
Hpse2^{tm370744(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Hpse2^em1(IMPC)J	Exon Deletion	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Hpse2 MGI:2685814

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

MicroCT E18.5

X-ray

X-ray

Auditory Brain Stem Response

Human diseases caused by Hpse2 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data