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Gene: Htr3a MGI:96282

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Gene Summary

Name:
5-hydroxytryptamine (serotonin) receptor 3A
Synonyms:
5-HT3 receptor

Order Alleles

IMPC Data Collections

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 System Allele Zyg Sex Life Stage P Value
hypoalgesia Htr3aem1.1(IMPC)J HOM   Early adult 4.10×10-06 *

Download data as:  TSV  XLS

* Significant with a threshold of 1x10-3, check the Pain Sensitivity page for more information.
Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes
* Significant with a threshold of 1x10-3, check the Pain Sensitivity page for more information.

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

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Auditory Brain Stem Response

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

8 Images

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Human diseases caused by Htr3a 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Htr3a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Enuresis, Nocturnal, 1
Enuresis nocturna OMIM:600631
Enuresis, Nocturnal, 2
Enuresis nocturna OMIM:600808
Urofacial Syndrome 2
Recurrent urinary tract infections, Hydronephrosis, Enuresis, Spastic/hyperactive bladder, Megacy... OMIM:615112
Posterior Urethral Valve
Recurrent urinary tract infections, Enuresis nocturna, Unilateral renal dysplasia, Hydronephrosis... ORPHA:93110
Interstitial Nephritis, Karyomegalic
Renal interstitial fibrosis, Proteinuria, Renal tubular cyst, Stage 5 chronic kidney disease, Tub... OMIM:614817
Renal Dysplasia
Enlarged kidney, Abnormal renal calyx morphology, Hydroureter, Abnormal nephron morphology, Abdom... ORPHA:93108
Xanthinuria, Type I
Hydronephrosis, Pyelonephritis, Myopathy, Xanthine nephrolithiasis, Hyperxanthinemia, Xanthinuria OMIM:278300
Urofacial Syndrome 1
Recurrent urinary tract infections, Hydronephrosis, Enuresis, Cryptorchidism, Hydroureter, Urethr... OMIM:236730
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Recurrent urinary tract infections, Hydronephrosis, Stage 2 chronic kidney disease, Neurogenic bl... OMIM:191800
Ochoa Syndrome
Recurrent urinary tract infections, Hydronephrosis, Cryptorchidism, Bowel incontinence, Urinary i... ORPHA:2704
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Rhabdomyolysis, Exercise-induced myalgia, Stage 5 chronic kidney disease, Tubulointerstitial neph... ORPHA:228302
Renal Failure, Progressive, With Hypertension
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency, Nephriti... OMIM:161900
Adrenomyodystrophy
Megacystis, Myopathy, Failure to thrive, Abnormality of the urinary system, Primary adrenal insuf... ORPHA:977
Iga Nephropathy, Susceptibility To, 2
Proteinuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Hematuria, Arthral... OMIM:613944
Complement Component C1R/C1S Deficiency
Nephritis, Discoid lupus rash, Arthritis, Arthralgia OMIM:216950
Hereditary Amyloidosis With Primary Renal Involvement
Decreased glomerular filtration rate, Dyspepsia, Abdominal pain, Male infertility, Hepatosplenome... ORPHA:85450
Renal Hypoplasia
Recurrent urinary tract infections, Hydronephrosis, Proteinuria, Abnormal renal morphology, Vesic... ORPHA:93101
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Torticollis, Cryptorchidism, Pyelonephritis, Renal dysplasia, Unilateral renal atrophy, Nephritis... OMIM:314300
Autosomal Dominant Polycystic Kidney Disease
Recurrent urinary tract infections, Pain, Stage 5 chronic kidney disease, Enlarged kidney, Abnorm... ORPHA:730
Congenital Megacalycosis
Recurrent urinary tract infections, Hydronephrosis, Abnormal renal physiology, Enlarged kidney, R... ORPHA:93109
Igg4-Related Kidney Disease
Chronic sinusitis, Inflammatory abnormality of the skin, Enlarged kidney, Urethritis, Albuminuria... ORPHA:449395
Medullary cystic kidney disease 2
Enuresis, Renal tubular atrophy, Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Go... OMIM:603860
Nephronophthisis 18
Renal tubular atrophy, Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Thickened gl... OMIM:615862
Spastic Paraplegia 13, Autosomal Dominant
Lower limb muscle weakness, Urinary urgency, Urinary incontinence, Urinary bladder sphincter dysf... OMIM:605280
Spastic Paraplegia 12, Autosomal Dominant
Lower limb muscle weakness, Urinary urgency, Urinary incontinence, Urinary bladder sphincter dysf... OMIM:604805
Lipoprotein Glomerulopathy
Mesangial hypercellularity, Proteinuria, Glomerulopathy, Renal insufficiency OMIM:611771
Spastic Paraplegia 19, Autosomal Dominant
Lower limb muscle weakness, Urinary urgency, Urinary incontinence, Urinary bladder sphincter dysf... OMIM:607152
Spastic Paraplegia 41, Autosomal Dominant
Urinary urgency OMIM:613364
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Hydronephrosis, Duplicated collecting system OMIM:163850
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Recurrent urinary tract infections, Nephrolithiasis, Megacystis, Fetal pyelectasis OMIM:619365
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polyuria, Hypernatremia, Megacystis, Failure to thrive OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polyuria, Hypernatremia, Megacystis, Failure to thrive OMIM:304800
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Autoimmune thrombocytopenia, Hypertrophy of the urinary bladder, Renal dysplasia, Urethral obstru... OMIM:601389
Nephrotic Syndrome, Type 7
Proteinuria, Acute kidney injury, Stage 5 chronic kidney disease, Hemolytic anemia, Hemolytic-ure... OMIM:615008
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hyperammonemia, Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Methylmalonic acide... OMIM:251000
Microsporidiosis
Peritonitis, Myocarditis, Urethritis, Cachexia, Abdominal pain, Abnormality of the spleen, Decrea... ORPHA:2552
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency
Urinary bladder sphincter dysfunction ORPHA:284282
Complement Factor I Deficiency
Recurrent urinary tract infections, Glomerulonephritis, Pyelonephritis, Renal insufficiency, Recu... OMIM:610984
Endove Syndrome, Limb-Brain Type
Recurrent urinary tract infections, Hydronephrosis, Neurogenic bladder, Failure to thrive, Osteom... OMIM:619218
Spastic Paraplegia 36, Autosomal Dominant
Lower limb muscle weakness, Urinary urgency, Urinary incontinence OMIM:613096
Hyperprolinemia Type 1
Hyperprolinemia, Proteinuria, Nephropathy, Prolinuria ORPHA:419
Autosomal Dominant Spastic Paraplegia Type 13
Lower limb muscle weakness, Urinary urgency, Urinary incontinence, Urinary bladder sphincter dysf... ORPHA:100994
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Proteinuria, Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio,... OMIM:617006
Spastic Paraplegia 8, Autosomal Dominant
Low back pain, Lower limb muscle weakness, Urinary incontinence, Urinary bladder sphincter dysfun... OMIM:603563
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Tubular basement membrane disintegration, Decreased glomerular filtration ... OMIM:174000
Spastic Paraplegia 37, Autosomal Dominant
Urinary urgency, Urinary incontinence OMIM:611945
Intellectual Developmental Disorder, X-Linked 29
Urinary incontinence, Testicular dysgenesis OMIM:300419
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Muscle fiber splitting, Anemia, Muscular dystrophy, Punctate keratitis, Increased variability in ... OMIM:226670
Senior-Loken Syndrome 9
Stage 5 chronic kidney disease, Hypogonadism, Tubulointerstitial nephritis, Nephronophthisis, Obe... OMIM:616629
Iga Nephropathy, Susceptibility To, 1
Proteinuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Hematuria, Arthral... OMIM:161950
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:614199
Spastic Paraplegia 3, Autosomal Dominant
Distal lower limb amyotrophy, Lower limb muscle weakness, Urinary incontinence, Urinary bladder s... OMIM:182600
Spastic Paraplegia 6, Autosomal Dominant
Lower limb muscle weakness, Urinary urgency, Urinary incontinence, Urinary bladder sphincter dysf... OMIM:600363
Nephronophthisis 2
Renal cortical microcysts, Chronic tubulointerstitial nephritis, Absence of renal corticomedullar... OMIM:602088
Atresia Of Urethra
Recurrent urinary tract infections, Hydronephrosis, Megacystis, Hydroureter, Renal insufficiency,... ORPHA:105
Spastic Paraplegia 27, Autosomal Recessive
Spastic/hyperactive bladder OMIM:609041
Siddiqi Syndrome
Flexion contracture, Urinary incontinence, Lower limb amyotrophy OMIM:618635
Granulomatosis With Polyangiitis
Chronic otitis media, Glomerulopathy, Abdominal pain, Arthralgia, Hydronephrosis, Proteinuria, Ur... ORPHA:900
Adult Polyglucosan Body Disease
Urinary incontinence, Urinary bladder sphincter dysfunction, Neurogenic bladder ORPHA:206583
Nephrotic Syndrome, Type 23
Proteinuria, Mesangial hypercellularity, Podocyte foot process effacement, Minimal change glomeru... OMIM:619201
Epidermolysis Bullosa, Junctional 5A, Intermediate
Urethral stenosis OMIM:619816
Spastic Paraplegia, Ataxia, And Mental Retardation
Lower limb muscle weakness, Urinary urgency, Urinary incontinence, Urinary bladder sphincter dysf... OMIM:607565
Congenital Primary Megaureter
Recurrent urinary tract infections, Hydronephrosis, Microscopic hematuria, Congenital megaureter,... ORPHA:617
Hand-Foot-Genital Syndrome
Small thenar eminence, Micropenis, Pyelonephritis, Longitudinal vaginal septum, Renal insufficien... OMIM:140000
Autosomal Recessive Spastic Paraplegia Type 48
Lower limb muscle weakness, Urinary incontinence, Urinary bladder sphincter dysfunction, Elevated... ORPHA:306511
Wolfram Syndrome 1
Hydronephrosis, Testicular atrophy, Megaloblastic anemia, Neurogenic bladder, Hydroureter, Sidero... OMIM:222300
Silver-Russell Syndrome 1
Small for gestational age, Testicular seminoma, Abnormality of the ureter, Decreased response to ... OMIM:180860
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Peritonitis, Megacystis, Pyelonephritis, Renal cortical hyperechogenicity, Anuria, Fetal megacystis OMIM:619351
Glomerulopathy With Fibronectin Deposits 2
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency, Nephroti... OMIM:601894
Foix-Alajouanine Syndrome
Distal lower limb amyotrophy, Bowel incontinence, Low back pain, Urinary retention, Neurogenic bl... ORPHA:79093
X-Linked Spastic Paraplegia Type 16
Functional abnormality of the bladder ORPHA:100997
Peroxisome Biogenesis Disorder 10B
Nephrocalcinosis, Neurogenic bladder OMIM:617370
Idiopathic Non-Lupus Full-House Nephropathy
Microscopic hematuria, Proteinuria, Glomerulonephritis, Acute kidney injury, Glomerular C3 deposi... ORPHA:567544
Glomerulopathy With Fibronectin Deposits 1
Microscopic hematuria, Proteinuria, Glomerulopathy, Stage 5 chronic kidney disease, Renal insuffi... OMIM:137950
Spastic Paraplegia 10, Autosomal Dominant
Lower limb muscle weakness, Urinary incontinence, Urinary bladder sphincter dysfunction, Urinary ... OMIM:604187
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Tubulointerstitial nephritis, Skin rash, Renal insufficiency, Nephrotic syndrome, Eo... ORPHA:139402
Polyglucosan Body Neuropathy, Adult Form
Urinary incontinence, Neurogenic bladder OMIM:263570
Hemangioblastoma
Lower limb muscle weakness, Upper limb muscle weakness, Trigeminal neuralgia, Neurogenic bladder ORPHA:252054
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Chronic tubulointerstitial nephritis, Proteinuria, Glomerulonephritis, Stage 5 chronic kidney dis... OMIM:614376
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Proteinuria, Hyperuricemia, Chronic kidney disease, Leukopenia, Anemia, Increased blood urea nitr... OMIM:613845
Nephrotic Syndrome, Type 15
Proteinuria, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Steroid-resistant... OMIM:617609
Autosomal Dominant Spastic Paraplegia Type 73
Distal lower limb amyotrophy, Urinary urgency, Urinary incontinence, Distal lower limb muscle wea... ORPHA:444099
Thyrocerebrorenal Syndrome
Nephritis, Renal insufficiency, Thrombocytopenia, Abnormality of the musculature of the limbs ORPHA:3327
Carnitine Palmitoyltransferase Ii Deficiency
Rhabdomyolysis, Polycystic kidney dysplasia, Exercise-induced myalgia, Stage 5 chronic kidney dis... ORPHA:157
Leigh Syndrome With Nephrotic Syndrome
Tubulointerstitial nephritis, Renal cyst, Heavy proteinuria, Nephrotic syndrome, Renal tubular ac... ORPHA:255249
Lead Poisoning
Decreased male libido, Renal tubular dysfunction, Abdominal pain, Abnormality of the menstrual cy... ORPHA:330015
Spastic Paraplegia 16, X-Linked
Lower limb amyotrophy, Lower limb muscle weakness, Urinary incontinence, Urinary bladder sphincte... OMIM:300266
Spastic Paraplegia 4, Autosomal Dominant
Low back pain, Lower limb muscle weakness, Urinary incontinence, Urinary bladder sphincter dysfun... OMIM:182601
Nephrotic Syndrome, Type 16
Minimal change glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome OMIM:617783
Igg4-Related Retroperitoneal Fibrosis
Deep dermal perivascular inflammatory infiltrate, Ureteropelvic junction obstruction, Increased b... ORPHA:49041
Lymphatic Filariasis
Pain, Knee osteoarthritis, Proteinuria, Abnormality of the kidney, Glomerulonephritis, Orchitis, ... ORPHA:2035
Pauci-Immune Glomerulonephritis
Microscopic hematuria, Proteinuria, Glomerulonephritis, Acute kidney injury, Decreased glomerular... ORPHA:93126
Renal Hypodysplasia/Aplasia 3
Hydronephrosis, Horseshoe kidney, Renal dysplasia, Abnormality of the uterus, Vesicoureteral refl... OMIM:617805
Mitochondrial Complex I Deficiency, Nuclear Type 27
Neurogenic bladder OMIM:618248
3-Methylglutaconic Aciduria Type 9
Urinary incontinence, 3-Methylglutaconic aciduria, Slender build, Failure to thrive ORPHA:505216
Immunodeficiency, Common Variable, 6
Hydronephrosis, Glomerulonephritis, Stage 5 chronic kidney disease, Enlarged kidney, Autoimmune t... OMIM:613496
Autosomal Dominant Spastic Paraplegia Type 36
Urinary urgency, Urinary incontinence, Arthritis ORPHA:320365
Birk-Landau-Perez Syndrome
Tubulointerstitial nephritis, Increased circulating creatine kinase MB isoform, Limb hypertonia, ... OMIM:617595
Spastic Paraplegia-Nephritis-Deafness Syndrome
Proteinuria, Nephropathy ORPHA:2820
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A
Urinary urgency, Urinary incontinence OMIM:156310
2p15-16.1 microdeletion syndrome
Hydronephrosis, Camptodactyly of finger DECIPHER:70
Focal Segmental Glomerulosclerosis 10
Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency, Minimal change glomerulonephrit... OMIM:256020
Webb-Dattani Syndrome
Hydronephrosis, Cryptorchidism, Hypernatremia, Neurogenic bladder, Decreased response to growth h... OMIM:615926
Diencephalic Syndrome
Long penis, Hyperhidrosis, Decreased body weight, Cachexia ORPHA:1672
Prune Belly Syndrome
Recurrent urinary tract infections, Decreased testicular size, Cryptorchidism, Aplasia of the abd... ORPHA:2970
Lower Urinary Tract Obstruction, Congenital
Urinary incontinence, Congenital posterior urethral valve, Vesicoureteral reflux, Pollakisuria, U... OMIM:618612
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Proteinuria, Glomerulopathy, Tubulointerstitial nephritis, Endocarditis, Skin rash, ... ORPHA:183
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Renal tubular atrophy, Hyperuricemia, Chronic kidney disease, Anemia, Focal segmenta... OMIM:613092
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomeruloscleros... OMIM:616002
Autosomal Dominant Spastic Paraplegia Type 6
Urinary incontinence, Skeletal muscle atrophy ORPHA:100988
Majeed Syndrome
Microscopic hematuria, Proteinuria, Inflammatory abnormality of the skin, Glomerulopathy, Leukocy... ORPHA:77297
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Failure to thrive, Proximal tubulopathy, Aminoaciduria, Weight loss OMIM:612075
Primary Membranoproliferative Glomerulonephritis
Microscopic hematuria, Proteinuria, Acute kidney injury, Stage 5 chronic kidney disease, Chronic ... ORPHA:54370
Focal Segmental Glomerulosclerosis 6
Renal tubular atrophy, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hematuria... OMIM:614131
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis ORPHA:1450
Atypical Hemolytic Uremic Syndrome
Proteinuria, Acute kidney injury, Microangiopathic hemolytic anemia, Thrombocytopenia, Hematuria ORPHA:2134
Hereditary Renal Hypouricemia
Acute kidney injury, Abnormal renal physiology, Chronic kidney disease, Decreased glomerular filt... ORPHA:94088
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Proteinuria, Acute kidney injury, Stage 5 chronic kidney disease, Microangiopathic hemolytic anem... OMIM:612925
Combined Oxidative Phosphorylation Deficiency 9
Hyperalaninemia, Tubulointerstitial nephritis, Failure to thrive OMIM:614582
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydronephrosis, Hydroureter, Fetal megacystis, Megacystis OMIM:619362
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Enteroviral hepatitis, Decreased response to growth hormone s... OMIM:307200
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Eczematoid dermatitis, Inflammatory abnormality of the skin, Colitis, Cachexia, Gastritis, Hypoth... ORPHA:37042
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal tubular atrophy, Gout, Decreased glomerular filtration rate, Hyperuricemia, Renal insuffici... OMIM:162000
Spastic Paraplegia 76, Autosomal Recessive
Lower limb muscle weakness, Urinary incontinence, Skeletal muscle atrophy OMIM:616907
Preeclampsia/Eclampsia 1
Proteinuria, Thrombocytopenia OMIM:189800
Fowler Urethral Sphincter Dysfunction Syndrome
Oligomenorrhea, Urinary retention, Abnormality of the ovary, Polycystic ovaries, Urinary incontin... ORPHA:2795
Nail-Patella-Like Renal Disease
Microscopic hematuria, Proteinuria, Glomerulopathy, Renal insufficiency ORPHA:2613
Perineural Cyst
Bowel incontinence, Distal lower limb muscle weakness, Abdominal pain, Male sexual dysfunction, R... ORPHA:65250
Listeriosis
Peritonitis, Myocarditis, Hepatic granulomatosis, Abdominal pain, Arthralgia, Splenic abscess, Li... ORPHA:533
Glutathionuria
Eczema, Urinary incontinence, Glutathionuria OMIM:231950
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Proteinuria, Acute kidney injury, Microangiopathic hemolytic anemia, Hemolytic-uremic syndrome, A... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Proteinuria, Acute kidney injury, Microangiopathic hemolytic anemia, Hemolytic-uremic syndrome, A... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Proteinuria, Acute kidney injury, Microangiopathic hemolytic anemia, Hemolytic-uremic syndrome, A... OMIM:612926
Familial Visceral Myopathy
Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, Megacystis, Hyperp... ORPHA:2604
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Distal lower limb amyotrophy, Fiber type grouping, Neurogenic bladder, Distal lower limb muscle w... OMIM:500013
Congenital Disorder Of Glycosylation, Type Iii
Neurogenic bladder OMIM:613612
Porphyria Variegata
Chest pain, Chronic kidney disease, Neurogenic bladder, Abnormal circulating porphyrin concentrat... ORPHA:79473
Multiple Sclerosis, Susceptibility To
Urinary hesitancy, Urinary incontinence OMIM:126200
Autosomal Recessive Frontotemporal Pachygyria
Urinary incontinence ORPHA:329329
Lipodystrophy, Partial, Acquired, Susceptibility To
Proteinuria, Abnormal circulating lipid concentration, Polycystic ovaries, Nephrotic syndrome, Me... OMIM:608709
Preeclampsia
Proteinuria, Abnormality of the kidney, Small for gestational age, Acute kidney injury, Chronic k... ORPHA:275555
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Proteinuria, Hematuria, Tubulointerstitial nephritis OMIM:616901
Focal Segmental Glomerulosclerosis 8
Proteinuria, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:616032
Drug-Induced Lupus Erythematosus
Malar rash, Constitutional symptom, Anemia, Increased blood urea nitrogen, Elevated circulating c... ORPHA:231111
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Proteinuria, Acute kidney injury, Microangiopathic hemolytic anemia, Hemolytic-uremic syndrome, A... OMIM:612924
Nephrotic Syndrome, Type 18
Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Stage 5 ch... OMIM:618177
Nephrotic Syndrome, Type 19
Stage 3 chronic kidney disease, Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmenta... OMIM:618178
Nephrotic Syndrome, Type 20
Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Stage 5 ch... OMIM:301028
Renal Caliceal Diverticuli-Deafness Syndrome
Hydronephrosis, Abnormality of the kidney, Hydroureter, Abnormality of the urinary system, Abnorm... ORPHA:2838
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Hydronephrosis, Abnormality of the urinary system ORPHA:2669
Nephrotic Syndrome, Type 17
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeruloscle... OMIM:618176
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Urinary incontinence, Osteomyelitis, Episodic hyperhidrosis OMIM:613115
Spastic Paraplegia 11, Autosomal Recessive
Lower limb muscle weakness, Urinary incontinence, Skeletal muscle atrophy, Urinary bladder sphinc... OMIM:604360
Visceral Myopathy 1
Hydronephrosis, Urinary retention, Megacystis, Pancreatitis, Abdominal pain, Vesicoureteral reflux OMIM:155310
Charcot-Marie-Tooth Disease, Type 4B3
Distal lower limb muscle weakness, Lower limb muscle weakness, Urinary incontinence, Skeletal mus... OMIM:615284
Duplication Of Urethra
Unilateral renal hypoplasia, Coronal hypospadias, Uterus didelphys, Recurrent urinary tract infec... ORPHA:237
Spastic Ataxia 3, Autosomal Recessive
Urinary urgency, Neurogenic bladder OMIM:611390
Iga Nephropathy, Susceptibility To, 3
Proteinuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Mesangial hypercel... OMIM:616818
X-Linked Adrenoleukodystrophy
Leg muscle stiffness, Neurogenic bladder, Urinary bladder sphincter dysfunction, Adrenal insuffic... ORPHA:43
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Type 2 muscle fiber predominance, Hyperhidrosis, Neurogenic bladder, Increased variability in mus... OMIM:619173
Focal Segmental Glomerulosclerosis 2
Proteinuria, Stage 5 chronic kidney disease, Chronic kidney disease, Nephrotic syndrome, Focal se... OMIM:603965
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydronephrosis, Hydroureter, Megacystis OMIM:619431
Spastic Paraplegia 5A, Autosomal Recessive
Lower limb amyotrophy, Lower limb muscle weakness, Urinary incontinence, Abnormal circulating cho... OMIM:270800
3-Methylglutaconic Aciduria, Type Ix
3-Methylglutaconic aciduria, Urinary incontinence, 3-Methylglutaric aciduria, Failure to thrive OMIM:617698
Spastic Paraplegia 85, Autosomal Recessive
Lower limb muscle weakness, Urinary incontinence, Torticollis, Generalized amyotrophy OMIM:619686
Nephrotic Syndrome, Type 2
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyperlipidemia, Focal segmental ... OMIM:600995
Lysinuric Protein Intolerance
Oroticaciduria, Decreased glomerular filtration rate, Hyperlysinuria, Hemophagocytosis, Hyperalan... ORPHA:470
Alstrom Syndrome
Hyperuricemia, Tubulointerstitial nephritis, Chronic active hepatitis, Renal insufficiency, Trunc... OMIM:203800
Autosomal Recessive Spastic Paraplegia Type 27
Spastic/hyperactive bladder ORPHA:101007
Visceral Myopathy 2
Esophagitis, Necrotizing enterocolitis, Megacystis OMIM:619350
Spinocerebellar Ataxia 48
Urinary incontinence, Cachexia OMIM:618093
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Distal lower limb amyotrophy, Claw hand deformity, Proteinuria, Stage 5 chronic kidney disease, E... OMIM:614455
Myopathy, Myofibrillar, 7
Enuresis nocturna, Bowel incontinence, Urinary incontinence, Skeletal muscle atrophy, Elevated ci... OMIM:617114
Nephrotic Syndrome, Type 9
Proteinuria, Stage 5 chronic kidney disease, Glomerular sclerosis, Focal segmental glomeruloscler... OMIM:615573
Alkaptonuria
Osteoarthritis, Arthritis, Nephrolithiasis, Tendon rupture, Aminoaciduria, Arthralgia, Thickened ... ORPHA:56
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Decreased glomerular filtratio... ORPHA:488627
Sandhoff Disease, Juvenile Form
Urinary incontinence, Skeletal muscle atrophy, Limb joint contracture, Failure to thrive ORPHA:309162
Nephrotic Syndrome, Type 6
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Nephrotic syndro... OMIM:614196
Bardet-Biedl Syndrome 19
Hydronephrosis, Hypogonadism, External genital hypoplasia, Renal insufficiency, Renal hypoplasia,... OMIM:615996
Autosomal Dominant Spastic Paraplegia Type 38
Thenar muscle weakness, Peroneal muscle atrophy, Distal lower limb muscle weakness, First dorsal ... ORPHA:171617
Macdermot-Winter Syndrome
Hydronephrosis, Camptodactyly of finger, Hypoplastic male external genitalia OMIM:247990
Leukodystrophy, Progressive, Early Childhood-Onset
Neurogenic bladder, Joint contracture OMIM:617762
Spastic Paraplegia 48, Autosomal Recessive
Lower limb muscle weakness, Urinary incontinence OMIM:613647
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Microscopic hematuria, Renal tubular atrophy, Hypophosphatemia, Nephrocalcinosis, Glycosuria, Bet... OMIM:308990
Autosomal Recessive Cutis Laxa Type 1
Recurrent urinary tract infections, Pyelonephritis, Urethral diverticulum, Recurrent pneumonia, V... ORPHA:90349
Autosomal Dominant Spastic Paraplegia Type 8
Lower limb muscle weakness, Urinary urgency, Urinary incontinence, Peroneal muscle atrophy ORPHA:100989
Autosomal Recessive Spastic Paraplegia Type 77
Lower limb amyotrophy, Neurogenic bladder, Urinary incontinence, Detrusor sphincter dyssynergia, ... ORPHA:466722
3-Methylglutaconic Aciduria, Type I
Urinary incontinence, 3-Methylglutaconic aciduria, Failure to thrive OMIM:250950
Agammaglobulinemia, X-Linked
Recurrent urinary tract infections, Enteroviral hepatitis, Anemia, Neutropenia, T lymphocytopenia... OMIM:300755
Myh9-Related Disease
Proteinuria, Renal insufficiency, Congenital thrombocytopenia, Nephropathy, Giant platelets, Incr... ORPHA:182050
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Polycystic kidney dysplasia, Hyperammonemia, Tubulointerstitial nephritis, Decreased plasma free ... ORPHA:228308
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Proteinuria, Membranoproliferative glomerulonephritis, Hematuria, Nephrotic syndrome OMIM:613913
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm head morphology, Abnormal tendon morphology, Decreased testicular size, Abnormal s... ORPHA:320391
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Decreased level of coenzyme Q10 in skeletal muscle, Nephrotic syndrome, Hypoalbuminemia OMIM:614652
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Neurogenic bladder OMIM:615911
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Proteinuria, Beta 2-microglobulinuria, Reduced renal corticomedullary differentiation, Renal cort... OMIM:611555
Acquired Partial Lipodystrophy
Microscopic hematuria, Proteinuria, Glomerulopathy, Myopathy, Lymphocytosis, Arthralgia ORPHA:79087
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Hydroureter, Multicystic kidney dysplasia, Cryptorchidism, Megacystis ORPHA:2241
Hinman Syndrome
Recurrent urinary tract infections, Hydronephrosis, Enuresis, Bowel incontinence, Renal insuffici... ORPHA:84085
Adult-Onset Distal Myopathy Due To Vcp Mutation
Bowel incontinence, Abnormality of the musculature of the lower limbs, Facial diplegia, Intrinsic... ORPHA:329478
Hereditary Xanthinuria
Recurrent urinary tract infections, Hydronephrosis, Acute kidney injury, Uric acid nephrolithiasi... ORPHA:3467
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Enuresis, Camptodactyly, Abnormality of the kidney, Tubulointerstitial nephritis ORPHA:459061
Autosomal Dominant Spastic Paraplegia Type 12
Lower limb amyotrophy, Bowel incontinence, Female sexual dysfunction, Lower limb muscle weakness,... ORPHA:100993
Scalp-Ear-Nipple Syndrome
Recurrent urinary tract infections, Abnormality of the kidney, Hypohidrosis, Pyelonephritis, Dupl... ORPHA:2036
Lecithin:Cholesterol Acyltransferase Deficiency
Proteinuria, Hemolytic anemia, Renal insufficiency, Hypertriglyceridemia, Decreased HDL cholester... OMIM:245900
Autosomal Recessive Spastic Paraplegia Type 78
Skeletal muscle atrophy, Facial myokymia, Neurogenic bladder ORPHA:513436
Focal Segmental Glomerulosclerosis 1
Proteinuria, Stage 5 chronic kidney disease, Anemia, Reduced renal corticomedullary differentiati... OMIM:603278
Image Syndrome
Hydronephrosis, Cryptorchidism, Hypogonadism, Hypospadias ORPHA:85173
X-Linked Intellectual Disability, Schimke Type
Hydronephrosis, Failure to thrive in infancy, Knee flexion contracture, Hip contracture, Ankle fl... ORPHA:85285
Hardikar Syndrome
Recurrent urinary tract infections, Hydronephrosis, Cholangitis, Hepatosplenomegaly, Hypoplasia o... OMIM:301068
Baralle-Macken Syndrome
Urinary incontinence, Obesity OMIM:619255
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Neurogenic bladder OMIM:619780
Autoinflammatory-Pancytopenia Syndrome
Hepatosplenomegaly, Proteinuria, Hemophagocytosis, Intestinal inflammation, Granuloma, Failure to... OMIM:619858
Glycogen Storage Disease X
Rhabdomyolysis, Exercise-induced myalgia, Myopathy, Renal insufficiency, Exercise intolerance, El... OMIM:261670
Autosomal Dominant Spastic Paraplegia Type 4
Urinary urgency, Urinary bladder sphincter dysfunction ORPHA:100985
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Hepatosplenomegaly, Multiple joint contractures, Neurogenic bladder ORPHA:466934
C3 Glomerulopathy
Proteinuria, Acute kidney injury, Stage 5 chronic kidney disease, Chronic kidney disease, Nephrot... ORPHA:329918
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Proteinuria, Focal segmental glomerulosclerosis, Hematuria OMIM:607832
Autosomal Dominant Centronuclear Myopathy
Exercise-induced myalgia, Proximal muscle weakness in lower limbs, Cryptorchidism, Type 1 muscle ... ORPHA:169189
Focal Segmental Glomerulosclerosis 5
Microscopic hematuria, Proteinuria, Focal segmental glomerulosclerosis, Stage 5 chronic kidney di... OMIM:613237
Amyotrophic Lateral Sclerosis 5, Juvenile
Distal amyotrophy, Urinary incontinence OMIM:602099
Amyloidosis, Familial Visceral
Proteinuria, Skin rash, Nephropathy, Nephrotic syndrome, Hematuria, Splenomegaly OMIM:105200
Congenital Anomalies Of Kidney And Urinary Tract 3
Hydronephrosis, Ectopic kidney, Vesicoureteral reflux, Multicystic kidney dysplasia, Renal hypopl... OMIM:618270
Prune Belly Syndrome
Hydronephrosis, Cryptorchidism, Aplasia of the abdominal wall musculature, Hydroureter, Xerostomi... OMIM:100100
Systemic Lupus Erythematosus
Malar rash, Leukopenia, Hemolytic anemia, Lupus nephritis, Arthritis, Thrombocytopenia, Nephritis... OMIM:152700
Sjogren Syndrome
Xerostomia, Keratoconjunctivitis sicca, Tubulointerstitial nephritis, Rheumatoid arthritis OMIM:270150
Hemorrhagic Fever-Renal Syndrome
Leukocytosis, Decreased glomerular filtration rate, Abdominal pain, Proteinuria, Chronic kidney d... ORPHA:340
Intellectual Developmental Disorder, Autosomal Recessive 70
Urinary incontinence OMIM:618402
Spastic Paraplegia 46, Autosomal Recessive
Lower limb muscle weakness, Infertility, Urinary incontinence, Limb muscle weakness OMIM:614409
Thyrocerebroretinal Syndrome
Nephritis, Thrombocytopenia, Skeletal muscle atrophy OMIM:274240
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Proteinuria, Enlarged kidney, Macroscopic hematuria, Increased blood u... ORPHA:251004
Lymphatic Malformation 1
Urethral stricture, Hydrocele testis OMIM:153100
Pelizaeus-Merzbacher Disease In Female Carriers
Abnormality of the lower urinary tract, Neurogenic bladder ORPHA:280229
Spastic Paraplegia 83, Autosomal Recessive
Urinary urgency OMIM:619027
Maternal Uniparental Disomy Of Chromosome 4
Neurogenic bladder, Abnormal erythrocyte morphology, Decreased LDL cholesterol concentration, Abe... ORPHA:96180
Brain-Lung-Thyroid Syndrome
Megacystis, Hypoparathyroidism, Compensated hypothyroidism, Failure to thrive, Recurrent pneumoni... ORPHA:209905
Thrombotic Thrombocytopenic Purpura
Proteinuria, Acute kidney injury, Reticulocytosis, Microangiopathic hemolytic anemia, Renal insuf... ORPHA:54057
Fibronectin Glomerulopathy
Microscopic hematuria, Proteinuria, Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Abno... ORPHA:84090
Glycogen Storage Disease Xi
Rhabdomyolysis, Renal insufficiency, Exercise intolerance, Elevated circulating creatine kinase c... OMIM:612933
Congenital Anomalies Of Kidney And Urinary Tract 2
Hydronephrosis, Hydroureter, Ureteropelvic junction obstruction, Congenital megaureter, Renal ins... OMIM:143400
Cog5-Cdg
Hepatosplenomegaly, Camptodactyly of finger, Cryptorchidism, Micropenis, Neurogenic bladder, Urin... ORPHA:263487
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Nephritis, Glomerular basement membrane disruption, Thickened glomerular basement membrane, Stage... OMIM:609057
Basal Ganglia Calcification, Idiopathic, 1
Abnormal circulating calcium concentration, Urinary incontinence OMIM:213600
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Intrinsic hand muscle atrophy, Wrist drop, Distal amyotrophy, Urinary incontinence, Foot dorsifle... OMIM:616688
Amyotrophic Dystonic Paraplegia
Bowel incontinence, Urinary incontinence, Skeletal muscle atrophy OMIM:105300
Trisomy 17P
Macroglossia, Polycystic kidney dysplasia, Hydronephrosis, Skeletal muscle atrophy, Hypoplasia of... ORPHA:261290
Lymphedema-Distichiasis Syndrome
Recurrent urinary tract infections, Proteinuria, Glomerulopathy, Renal duplication, Tubulointerst... ORPHA:33001
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Camptodactyly of finger, Small for gestational age, Spinal muscular atrophy, Distal amyotrophy, U... OMIM:604320
Spastic Paraplegia 7, Autosomal Recessive
Upper limb hypertonia, Lower limb muscle weakness, Urinary incontinence, Urinary bladder sphincte... OMIM:607259
Galloway-Mowat Syndrome 8
Renal tubular atrophy, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hematuria... OMIM:618349
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Neurogenic bladder ORPHA:572013
22Q11.2 Duplication Syndrome
Hydronephrosis, Displacement of the urethral meatus, Urethral stenosis ORPHA:1727
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Urinary urgency, Urinary incontinence OMIM:612319
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Microscopic hematuria, Renal tubular atrophy, Nephrocalcinosis, Chronic kidney disease, Renal ins... OMIM:310468
Spastic Paralysis, Infantile-Onset Ascending
Achilles tendon contracture, Urinary incontinence OMIM:607225
Alport Syndrome 3, Autosomal Dominant
Microscopic hematuria, Proteinuria, Glomerulonephritis, Hypophosphatemia, Stage 5 chronic kidney ... OMIM:104200
Unilateral Focal Polymicrogyria
Urinary incontinence ORPHA:268947
Neuronal Intranuclear Inclusion Disease
Urinary incontinence OMIM:603472
Spastic Paraplegia 72, Autosomal Recessive
Urinary bladder sphincter dysfunction OMIM:615625
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Urinary incontinence OMIM:620094
Adenine Phosphoribosyltransferase Deficiency
Recurrent urinary tract infections, Proteinuria, Acute kidney injury, Urinary retention, Uric aci... ORPHA:976
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal interstitial edema, Decreased glomerular filtration rate, Abdominal pain, Arthralgia, Renal... ORPHA:91500
Familial Mediterranean Fever, Autosomal Dominant
Peritonitis, Proteinuria, Renal amyloidosis, Erysipelas, Renal insufficiency, Abdominal pain, Art... OMIM:134610
Isolated Epispadias
Epispadias, Urinary incontinence, Bifid clitoris, Anteriorly displaced urethral meatus, Vesicoure... ORPHA:93928
Interstitial Cystitis
Urinary bladder inflammation, Functional abnormality of the bladder, Abnormality of the bladder, ... ORPHA:37202
Junctional Epidermolysis Bullosa With Pyloric Atresia
Hydronephrosis, Renal duplication, Urinary bladder inflammation, Renal dysplasia, Recurrent skin ... ORPHA:79403
Anti-Glomerular Basement Membrane Disease
Proteinuria, Glomerulopathy, Anemia, Renal insufficiency, Arthritis, Hematuria, Arthralgia, Myalg... ORPHA:375
Spinocerebellar Ataxia 42
Urinary urgency, Urinary incontinence OMIM:616795
Leukodystrophy, Hypomyelinating, 12
Flexion contracture, Neurogenic bladder OMIM:616683
Nephrotic Syndrome, Type 14
Proteinuria, Cryptorchidism, Micropenis, Diffuse mesangial sclerosis, Stage 5 chronic kidney dise... OMIM:617575
Dyskeratosis Congenita, Autosomal Dominant 3
Cryptorchidism, Leukopenia, Aplastic anemia, Thrombocytopenia, Pancytopenia, Urethral stricture, ... OMIM:613990
Hydrocephalus, Normal-Pressure, 1
Urinary incontinence, Bowel incontinence OMIM:236690
Spastic Paraplegia 29, Autosomal Dominant
Urinary hesitancy, Urinary incontinence, Urinary urgency, Nocturia, Neonatal hyperbilirubinemia OMIM:609727
Adrenoleukodystrophy
Bowel incontinence, Hypogonadism, Lower limb muscle weakness, Urinary incontinence, Urinary bladd... OMIM:300100
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Urinary incontinence OMIM:249900
Thrombotic Thrombocytopenic Purpura, Hereditary
Microscopic hematuria, Proteinuria, Abnormal renal physiology, Reticulocytosis, Microangiopathic ... OMIM:274150
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Exercise-induced myalgia, Hyperammonemia, Distal arthrogryposis, Myopathy, Skeletal muscle atroph... ORPHA:42
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Glomerulonephritis, Plasmacytosis, Autoimmune hemolytic anemia, Lymphopenia, Pneumonia OMIM:247800
Melioidosis
Splenic abscess, Lung abscess, Liver abscess, Osteoarthritis, Parotitis, Hepatitis, Septic arthri... ORPHA:31202
Peroxisome Biogenesis Disorder 14B
Urinary incontinence, Hydrocele testis OMIM:614920
Cholestasis, Progressive Familial Intrahepatic, 12
Proteinuria, Conjugated hyperbilirubinemia, Hyperbilirubinemia, Increased serum bile acid concent... OMIM:620010
Hereditary Motor And Sensory Neuropathy, Type Iic
Distal lower limb amyotrophy, Distal lower limb muscle weakness, Shoulder girdle muscle atrophy, ... OMIM:606071
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Hydronephrosis, Cryptorchidism, Micropenis, Megacystis, Hydroureter, Duplicated collecting system... OMIM:604292
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Recurrent otitis media, Lymphopenia OMIM:615615
Syringomyelia, Noncommunicating Isolated
Neck pain, Urinary incontinence, Limb muscle weakness OMIM:186700
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Skeletal muscle atrophy, Cachexia, Elevated circulating creatine kinase concentration, Methylmalo... ORPHA:1933
Multicentric Reticulohistiocytosis
Cachexia, Arthritis, Histiocytosis ORPHA:139436
Recessive Dystrophic Epidermolysis Bullosa Inversa
Gastrointestinal inflammation, Vaginal stricture, Anemia, Urethral stricture, Abnormality of the ... ORPHA:79409
46,Xy Sex Reversal 4
Hydronephrosis, Agonadism, Ureteropelvic junction obstruction, Hypoplasia of the uterus, Increase... OMIM:154230
Spastic Paraplegia 15, Autosomal Recessive
Bowel incontinence, Lower limb muscle weakness, Distal amyotrophy, Urinary incontinence, Urinary ... OMIM:270700
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Neurogenic bladder OMIM:617669
Igg4-Related Submandibular Gland Disease
Cholangitis, Abnormality of the kidney, Renal insufficiency, Xerostomia, Eosinophilia, Prostatitis ORPHA:449432
Gitelman Syndrome
Decreased urinary potassium, Hypokalemia, Abdominal pain, Renal potassium wasting, Arthralgia, Hy... ORPHA:358
Megabladder, Congenital
Hyperechogenic kidneys, Fetal megacystis, Multiple glomerular cysts, Stage 5 chronic kidney disease OMIM:618719
Autosomal Spastic Paraplegia Type 72
Urinary bladder sphincter dysfunction ORPHA:401849
Alport Syndrome 2, Autosomal Recessive
Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency, Thickened glomerular basement m... OMIM:203780
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Urinary incontinence, Hypergonadotropic hypogonadism OMIM:617145
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Proteinuria, Glomerulopathy, Anemia, Hyperparathyroidism, Renal insufficiency, Hypercalcemia ORPHA:2668
Pure Autonomic Failure
Constitutional symptom, Urinary incontinence, Impotence, Anhidrosis, Dysuria ORPHA:441
Congenital Disorder Of Glycosylation, Type Iie
Hydronephrosis, Neurogenic bladder, Skeletal muscle atrophy, Elevated circulating creatine kinase... OMIM:608779
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Bowel incontinence, Neurogenic bladder, Urinary incontinence, Skeletal muscle atrophy, Elevated c... ORPHA:496641
Heme Oxygenase 1 Deficiency
Proteinuria, Asplenia, Hemolytic anemia, Elevated circulating C-reactive protein concentration, H... OMIM:614034
Maternally-Inherited Diabetes And Deafness
Proteinuria, Abnormal circulating lipid concentration, Glomerulopathy, Renal insufficiency, Myalgia ORPHA:225
Orofaciodigital Syndrome Xviii
Urinary incontinence OMIM:617927
Glycogen Storage Disease V
Rhabdomyolysis, Exercise-induced rhabdomyolysis, Exercise-induced myalgia, Hyperuricemia, Exercis... OMIM:232600
Idiopathic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Proteinuria, Acute kidney injury, Abnormal circulating lipid concentration, Diffuse ... ORPHA:567548
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Arthrogryposis multiplex congenita, Elevated maternal serum alpha-fetoprotein, Urethrovesical occ... OMIM:226730
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Proteinuria, Camptodactyly of finger, Nephropathy, Cachexia ORPHA:2774
Mu-Heavy Chain Disease
Abnormal B cell count, Bence Jones Proteinuria, Anemia, Nephropathy, Splenomegaly, Weight loss ORPHA:100024
Coenzyme Q10 Deficiency, Primary, 6
Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Nephrolithiasis, Focal ... OMIM:614650
Nephrotic Syndrome, Type 3
Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Nephrotic syndrome, Foc... OMIM:610725
Pediatric Systemic Lupus Erythematosus
Chest pain, Proteinuria, Malar rash, Leukopenia, Microangiopathic hemolytic anemia, Skin rash, Re... ORPHA:93552
Machado-Joseph Disease Type 1
Distal lower limb amyotrophy, Skeletal muscle atrophy, Neurogenic bladder ORPHA:276238
Machado-Joseph Disease Type 2
Distal lower limb amyotrophy, Skeletal muscle atrophy, Neurogenic bladder ORPHA:276241
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Exercise-induced myalgia, Distal lower limb muscle weakness, Flexion contracture of finger, Eleva... ORPHA:206549
Orthostatic Hypotension 1
Weakness of facial musculature, Increased blood urea nitrogen, Nocturia, Reduced circulating prol... OMIM:223360
Congenital Nephrotic Syndrome, Finnish Type
Elevated amniotic fluid alpha-fetoprotein, Proteinuria, Abnormal renal tubule morphology, Nephrot... ORPHA:839
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Distal amyotrophy, Urinary incontinence, Impotence, Foot dorsiflexor weakness ORPHA:98
Cednik Syndrome
Proteinuria, Hypogonadism, Nephrotic syndrome ORPHA:66631
Renal Hypoplasia, Bilateral
Microscopic hematuria, Proteinuria, Small for gestational age, Cryptorchidism, Glycosuria, Chroni... ORPHA:97362
Currarino Syndrome
Recurrent urinary tract infections, Neurogenic bladder, Horseshoe kidney, Urinary incontinence, S... OMIM:176450
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Xerostomia, Neurogenic bladder OMIM:618527
Dent Disease 2
Hypophosphatemia, Nephrocalcinosis, Chronic kidney disease, Elevated circulating creatine kinase ... OMIM:300555
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Urinary incontinence, Abnormality of the musculature of the lower limbs, Obesity ORPHA:464282
Genetic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Chronic ki... ORPHA:656
Galactosemia I
Premature ovarian insufficiency, Hemolytic anemia, Galactosuria, Hypergalactosemia, Albuminuria, ... OMIM:230400
Distal 16P11.2 Microdeletion Syndrome
Proteinuria, Abnormality of the kidney, Hyperuricemia, Chronic kidney disease, Vesicoureteral ref... ORPHA:261222
Macs Syndrome
Cryptorchidism, Recurrent aphthous stomatitis, Fatigue, Hypergonadotropic hypogonadism, Bronchiec... OMIM:613075
Autosomal Recessive Spastic Paraplegia Type 76
Functional abnormality of the bladder ORPHA:488594
Galloway-Mowat Syndrome 2, X-Linked
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Minimal change glomerulonephriti... OMIM:301006
Denys-Drash Syndrome
Proteinuria, Nephropathy, Nephrotic syndrome, Male pseudohermaphroditism, Nephroblastoma, Gonadal... ORPHA:220
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Hypohidrosis, Failure to thrive in infancy, Colitis, Recurrent pneumonia, Bronchiectasis, Urethra... OMIM:301220
Neural Tube Defects, Susceptibility To
Urinary incontinence OMIM:182940
Nephrotic Syndrome, Type 1
Hypoproteinemia, Proteinuria, Renal tubular atrophy, Small for gestational age, Diffuse mesangial... OMIM:256300
Hypouricemia, Renal, 1
Proteinuria, Acute kidney injury, Uric acid nephrolithiasis, Hyperuricosuria, Hypouricemia, Renal... OMIM:220150
Frasier Syndrome
Proteinuria, Stage 5 chronic kidney disease, Primary amenorrhea, Nephrotic syndrome, Ovarian gona... OMIM:136680
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Rhabdomyolysis, Renal insufficiency, Myalgia, Myoglobinuria OMIM:255110
Wolfram Syndrome, Mitochondrial Form
Hydronephrosis, Megaloblastic anemia, Hydroureter, Sideroblastic anemia, Thrombocytopenia, Neutro... OMIM:598500
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Proteinuria, Cryptorchidism, Anemia, Nephropathy, Nephrotic syndrome ORPHA:1192
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Urinary incontinence OMIM:600795
Dopamine Beta-Hydroxylase Deficiency
Anemia, Rhinitis, Fatigue, Increased blood urea nitrogen, Elevated urinary dopamine, Nocturia, Re... ORPHA:230
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Neurogenic bladder ORPHA:500144
Autosomal Dominant Cutis Laxa
Unilateral renal agenesis, Bronchiectasis, Bladder diverticulum, Pyelonephritis ORPHA:90348
Proteinuria, Chronic Benign
Renal insufficiency, Proteinuria, Albuminuria OMIM:618884
Igg4-Related Ophthalmic Disease
Cholangitis, Trigeminal neuralgia, Abnormality of the kidney, Orchitis, Pancreatitis, Eosinophili... ORPHA:449563
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Reticulocytosis, Microangiopathic hemolytic anemia, Hemolytic-uremic syndrom... OMIM:235400
Glycogen Storage Disease Due To Aldolase A Deficiency
Exercise-induced rhabdomyolysis, Acute kidney injury, Viral infection-induced rhabdomyolysis, Hem... ORPHA:57
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Nephrotic Syndrome, Type 11
Renal tubular atrophy, Proteinuria, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, ... OMIM:616730
Wolfram Syndrome 2
Oligomenorrhea, Neurogenic bladder, Primary amenorrhea OMIM:604928
Machado-Joseph Disease Type 3
Distal lower limb amyotrophy, Skeletal muscle atrophy, Neurogenic bladder ORPHA:276244
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Rhabdomyolysis, Renal insufficiency, Elevated circulating creatine kinase concentration, Myoglobi... ORPHA:2364
Frasier Syndrome
Proteinuria, Glomerulopathy, Primary amenorrhea, Gonadoblastoma, Ambiguous genitalia, male, Gonad... ORPHA:347
Galloway-Mowat Syndrome 6
Proteinuria, Decreased response to growth hormone stimulation test, Nephrotic syndrome, Hypothyro... OMIM:618347
Imerslund-Grasbeck Syndrome 1
Microscopic hematuria, Proteinuria, Megaloblastic anemia OMIM:261100
Autoimmune Polyendocrinopathy Type 4
Graves disease, Leukopenia, Tubulointerstitial nephritis, Hashimoto thyroiditis, Aplasia/Hypoplas... ORPHA:227990
Dyskeratosis Congenita, Autosomal Dominant 2
Leukopenia, Aplastic anemia, Failure to thrive, Thrombocytopenia, Pancytopenia, Urethral strictur... OMIM:613989
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Proteinuria, Nephrocalcinosis, Glycosuria, Nephropathy, Conjugated hyperbilirubinemia, Failure to... OMIM:613404
Renpenning Syndrome
Decreased testicular size, Skeletal muscle atrophy, Cachexia, Hypospadias ORPHA:3242
Autoimmune Polyendocrinopathy Type 3
Graves disease, Leukopenia, Tubulointerstitial nephritis, Hashimoto thyroiditis, Aplasia/Hypoplas... ORPHA:227982
Adrenomyeloneuropathy
Abnormal libido, Leg muscle stiffness, Bowel incontinence, Urinary retention, Distal lower limb m... ORPHA:139399
Nephronophthisis 13
Global glomerulosclerosis, Renal interstitial fibrosis, Proteinuria, Stage 5 chronic kidney disea... OMIM:614377
Huntington Disease-Like 3
Flexion contracture, Urinary incontinence, Bowel incontinence OMIM:604802
Congenital Myopathy 19
Hydronephrosis, Cryptorchidism, Skeletal muscle atrophy, Renal atrophy, Congenital contracture, F... OMIM:618578
Childhood Disintegrative Disorder
Urinary incontinence, Bowel incontinence ORPHA:168782
Glycogen Storage Disease Ixd
Exercise-induced myalgia, Exercise-induced myoglobinuria, Distal amyotrophy, Lower limb muscle we... OMIM:300559
Combined Oxidative Phosphorylation Deficiency 34
Increased blood urea nitrogen, Hypergonadotropic hypogonadism, Failure to thrive, Pancytopenia, P... OMIM:617872
Myoglobinuria, Autosomal Dominant
Myalgia, Acute kidney injury, Elevated circulating creatine kinase concentration, Myoglobinuria OMIM:160010
Primary Sjögren Syndrome
Abnormality of the kidney, Chronic active hepatitis, Chronic hepatitis, Keratoconjunctivitis sicc... ORPHA:289390
Uremic Pruritus
Renal hypophosphatemia, Inflammatory abnormality of the skin, Stage 5 chronic kidney disease, Chr... ORPHA:94059
Paroxysmal Nocturnal Hemoglobinuria
Reduced haptoglobin level, Hemolytic anemia, Increased blood urea nitrogen, Proteinuria, Reticulo... ORPHA:447
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Medullary nephrocalcinosis, Hypercalciuria, Failure to thrive, Nephrolithiasis,... OMIM:143880
Spinocerebellar Ataxia 17
Urinary incontinence OMIM:607136
Spastic Paraplegia 9B, Autosomal Recessive
Urinary incontinence, Skeletal muscle atrophy, Urinary retention, Foot dorsiflexor weakness OMIM:616586
Spastic Paraplegia 44, Autosomal Recessive
Urinary incontinence OMIM:613206
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Proteinuria, Acute kidney injury, Stage 5... ORPHA:650
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Macroglossia, Proximal muscle weakness in lower limbs, Exercise-induced myoglobinuria, Skeletal m... ORPHA:352479
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Mucopolysacchariduria, Proteinuria, Small for gestational age, Nephrotic syndrome, Abnormal T cel... OMIM:215250
Alport Syndrome
Microscopic hematuria, Proteinuria, Renal tubular atrophy, Epigastric pain, Stage 5 chronic kidne... ORPHA:63
Paganini-Miozzo Syndrome
Urinary incontinence, Hyperalaninemia OMIM:301025
Acute Intermittent Porphyria
Neck pain, Proximal muscle weakness in lower limbs, Urinary retention, Urinary incontinence, Rena... ORPHA:79276
Galloway-Mowat Syndrome 5
Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Stage 5 ch... OMIM:617731
Immunodeficiency 50
Recurrent urinary tract infections, Eczema, Lymphopenia, Neutropenia OMIM:300988
Neuropathy, Hereditary Sensory And Autonomic, Type V
Low back pain, Urinary incontinence, Osteoarthritis, Septic arthritis, Anhidrosis, Osteomyelitis OMIM:608654
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Cryptorchidism, Ambiguous genitalia, Infertility, Abnormality of the urethra, Hypothyroidism, Mal... ORPHA:752
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Rhabdomyolysis, Exercise-induced myalgia, Acute kidney injury, Chronic kidney disease, Exercise-i... ORPHA:368
Imerslund-Grasbeck Syndrome 2
Proteinuria, Megaloblastic anemia OMIM:618882
Multicentric Carpotarsal Osteolysis Syndrome
Ankle pain, Proteinuria, Stage 5 chronic kidney disease, Bilateral renal atrophy, Renal insuffici... OMIM:166300
Spastic Paraplegia 31, Autosomal Dominant
Urinary urgency OMIM:610250
Tbck-Related Intellectual Disability Syndrome
Macroglossia, Diastasis recti, Abnormal circulating lipid concentration, Cryptorchidism, Neurogen... ORPHA:488632
Scalp-Ear-Nipple Syndrome
Hypohidrosis, Pyelonephritis, Renal insufficiency, Unilateral renal agenesis, Renal hypoplasia OMIM:181270
8P23.1 Duplication Syndrome
Hydronephrosis, Adrenal insufficiency ORPHA:251076
Alport Syndrome 1, X-Linked
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Hypoparathyroidism, Renal ins... OMIM:301050
Intermediate Uveitis
Anterior uveitis, Optic neuritis, Psoriasiform dermatitis, Tubulointerstitial nephritis ORPHA:279914
Cat-Eye Syndrome
Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia ORPHA:195
Posterior Column Ataxia With Retinitis Pigmentosa
Recurrent urinary tract infections, Camptodactyly, Urinary incontinence, Skeletal muscle atrophy,... OMIM:609033
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Acute kidney injury, Elevated circulating creatine kinase concentration, Myoglobinuria, Hyperkale... OMIM:268200
Obsolete: Arnold-Chiari Malformation Type Ii
Upper limb muscle weakness, Hand muscle atrophy, Pneumonia, Neurogenic bladder ORPHA:1136
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of HLA DR+ T cells, Ma... OMIM:603909
Spastic Paraplegia 54, Autosomal Recessive
Bowel incontinence, Hypomimic face, Lower limb muscle weakness, Distal lower limb muscle weakness... OMIM:615033
Chromosome 17Q12 Deletion Syndrome
Recurrent urinary tract infections, Hydronephrosis, Cryptorchidism, Aplasia of the uterus, Stage ... OMIM:614527
Glycogen Storage Disease Vii
Exercise-induced myalgia, Reticulocytosis, Gout, Hyperuricemia, Exercise-induced myoglobinuria, H... OMIM:232800
Nephrotic Syndrome, Type 22
Microscopic hematuria, Hypoproteinemia, Stage 5 chronic kidney disease, Thickened glomerular base... OMIM:619155
Galactose Epimerase Deficiency
Splenomegaly, Aminoaciduria, Weight loss ORPHA:79238
Aredyld Syndrome
Abnormality of the ureter, Cachexia, Splenomegaly ORPHA:1133
Dopa-Responsive Dystonia
Pain, Urinary incontinence, Fatigue, Hyperhidrosis ORPHA:255
Huntington Disease-Like 3
Flexion contracture, Urinary incontinence, Bowel incontinence ORPHA:157946
Malakoplakia
Proteinuria, Urinary bladder inflammation, Inflammatory abnormality of the skin, Orchitis, Skin r... ORPHA:556
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Urinary incontinence OMIM:221770
Nephrotic Syndrome, Type 8
Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Chronic kidney disease,... OMIM:615244
Aa Amyloidosis
Proteinuria, Abnormality of the kidney, Acute kidney injury, Chronic kidney disease, Enlarged kid... ORPHA:85445
Mckusick-Kaufman Syndrome
Hydronephrosis, Cryptorchidism, Hydrometrocolpos, Urogenital sinus anomaly, Renal hypoplasia/apla... ORPHA:2473
Fanconi Anemia, Complementation Group O
Hydronephrosis, Small thenar eminence, Cryptorchidism, Stage 5 chronic kidney disease, External g... OMIM:613390
Severe Generalized Junctional Epidermolysis Bullosa
Urinary retention, Hydroureter, Multicystic kidney dysplasia, Recurrent urinary tract infections,... ORPHA:79404
Pulmonary Blastoma
Recurrent pneumonia, Chest pain, Weight loss ORPHA:64741
Chiari Malformation Type I
Neck pain, Urinary incontinence, Limb muscle weakness OMIM:118420
Phosphoglycerate Kinase 1 Deficiency
Rhabdomyolysis, Reticulocytosis, Hemolytic anemia, Exercise-induced myoglobinuria, Myopathy, Rena... OMIM:300653
Cocaine Intoxication
Rhabdomyolysis, Proteinuria, Glomerulonephritis, Acute kidney injury, Tubulointerstitial nephriti... ORPHA:90068
Parkinsonian-Pyramidal Syndrome
Neurogenic bladder, Hypomimic face ORPHA:171695
Exstrophy-Epispadias Complex
Abnormality of the kidney, Renal duplication, Horseshoe kidney, Penoscrotal transposition, Cystoc... ORPHA:322
Simple Cryoglobulinemia
Microscopic hematuria, Proteinuria, Abnormality of the kidney, Chronic lymphatic leukemia, Renal ... ORPHA:91139
Cryptococcosis
Peritonitis, Osteomyelitis, Pneumonia, Prostatitis, Chest pain, Lymphoid leukemia, Limb muscle we... ORPHA:1546
Lateral Meningocele Syndrome
Decreased muscle mass, Cryptorchidism, Neurogenic bladder OMIM:130720
Attrv30M Amyloidosis
Abnormal renal physiology, Nephropathy, Impotence, Weight loss ORPHA:85447
Spinocerebellar Ataxia Type 42
Urinary urgency, Urinary incontinence, Impotence, Psoriasiform dermatitis ORPHA:458803
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hyperammonemia, Hypervalinemia, Increased blood urea nitrogen, Failure to thrive, Hyperleucinemia... OMIM:620085
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Rhabdomyolysis, Exercise-induced myalgia, Proximal muscle weakness in lower limbs, Skeletal muscl... OMIM:620138
Papa Syndrome
Proteinuria, Increased inflammatory response, Pustule, Fatigue, Arthritis, Acne, Crohn's disease,... ORPHA:69126
Cockayne Syndrome
Proteinuria, Abnormal renal physiology, Malar rash, Hyperuricemia, Neurogenic bladder, Limb hyper... ORPHA:191
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
Urinary incontinence, Bowel incontinence OMIM:618868
Silver-Russell Syndrome
Decreased testicular size, Cryptorchidism, Precocious puberty, Decreased muscle mass, Failure to ... ORPHA:813
Fragile X Tremor/Ataxia Syndrome
Premature ovarian insufficiency, Bowel incontinence, Urinary incontinence, Impotence, Hypothyroid... OMIM:300623
Neuroleptic Malignant Syndrome
Rhabdomyolysis, Proteinuria, Acute kidney injury, Aspiration pneumonia, Hyperuricemia, Leukocytos... ORPHA:94093
Fanconi Renotubular Syndrome 5
Proteinuria, Hypophosphatemia, Stage 5 chronic kidney disease, Glycosuria, Hypophosphatemic ricke... OMIM:618913
Pseudo-Torch Syndrome 3
Proteinuria, Acute kidney injury, Leukocytosis, Anemia, Congenital thrombocytopenia, Lymphadeniti... OMIM:618886
Galloway-Mowat Syndrome 7
Renal tubular atrophy, Proteinuria, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, ... OMIM:618348
Igg4-Related Aortitis
Hydronephrosis, Hypereosinophilia, Low back pain, Abdominal pain, Elevated circulating C-reactive... ORPHA:449400
Spondylocostal Dysostosis 4, Autosomal Recessive
Neurogenic bladder OMIM:613686
Mucopolysaccharidosis-Plus Syndrome
Macroglossia, Renal tubular atrophy, Proteinuria, Leukopenia, Enlarged kidney, Anemia, Neutropeni... OMIM:617303
Free Sialic Acid Storage Disease
Proteinuria, Aplasia/Hypoplasia of the abdominal wall musculature, Failure to thrive in infancy, ... ORPHA:834
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Proteinuria, Abnormality of the kidney, Failure to thrive, Hyperlipidemia, Postexertional symptom... ORPHA:369
Cockayne Syndrome Type 3
Hydronephrosis, Urinary retention, Neurogenic bladder, Hydroureter, Renal insufficiency, Unilater... ORPHA:90324
Juvenile Amyotrophic Lateral Sclerosis
Retrocollis, Distal amyotrophy, Urinary incontinence, Muscle fiber atrophy, Skeletal muscle atrop... ORPHA:300605
Camptobrachydactyly
Septate vagina, Urinary incontinence, Congenital finger flexion contractures OMIM:114150
Vesicoureteral Reflux 3
Recurrent urinary tract infections, Hydronephrosis, Grade IV vesicoureteral reflux, Hydroureter, ... OMIM:613674
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Rhabdomyolysis, Exercise-induced myalgia, Reticulocytosis, Hemolytic anemia, Myopathy, Renal insu... ORPHA:713
Oligomeganephronia
Proteinuria, Renal tubular atrophy, Small for gestational age, Stage 5 chronic kidney disease, De... ORPHA:2260
Primary Hyperoxaluria Type 3
Calcium oxalate nephrolithiasis, Abnormal renal physiology, Nephrocalcinosis, Hematuria, Dysuria,... ORPHA:93600
Dent Disease
Nephrocalcinosis, Renal phosphate wasting, Elevated circulating creatine kinase concentration, Ab... ORPHA:1652
Indifference To Pain, Congenital, Autosomal Recessive
Urinary incontinence, Hypohidrosis, Anhidrosis OMIM:243000
Genetic Recurrent Myoglobinuria
Exercise-induced myalgia, Recurrent myoglobinuria, Acute kidney injury, Viral infection-induced r... ORPHA:99845
Cockayne Syndrome Type 1
Proteinuria, Cryptorchidism, Hypohidrosis, Anemia, Renal insufficiency, Uveitis, Increased blood ... ORPHA:90321
Legionnaires Disease
Myocarditis, Chest pain, Proteinuria, Endocarditis, Pancreatitis, Renal insufficiency, Lymphopeni... ORPHA:549
Porphyria, Acute Intermittent
Urinary retention, Urinary incontinence, Abdominal pain, Elevated urinary delta-aminolevulinic ac... OMIM:176000
Sandhoff Disease
Hepatosplenomegaly, Macroglossia, Hypohidrosis, Urinary incontinence, Skeletal muscle atrophy, Im... OMIM:268800
Adult Krabbe Disease
Lower limb muscle weakness, Upper limb muscle weakness, Urinary incontinence, Erectile dysfunction ORPHA:206448
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Proteinuria, Cryptorchidism, Recurrent otitis media, Small scrotum, Multiple bladder diverticula ORPHA:2728
Congenital Disorder Of Glycosylation, Type Iit
Urinary incontinence, Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotr... OMIM:618885
Yao Syndrome
Inflammatory abnormality of the skin, Skin rash, Keratoconjunctivitis sicca, Xerostomia, Arthriti... OMIM:617321
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Cryoglobulinemia, Familial Mixed
Proteinuria, Abnormal renal physiology, Chronic kidney disease, Hematuria, Elevated circulating c... OMIM:123550
Spinocerebellar Ataxia Type 19/22
Urinary incontinence ORPHA:98772
Cryoglobulinemic Vasculitis
Proteinuria, Glomerulopathy, Renal insufficiency, Keratoconjunctivitis sicca, Arthritis, Splenome... ORPHA:91138
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Distal amyotrophy, Nonprogressive muscular atrophy, Cachexia ORPHA:1216
Cystinosis
Proteinuria, Hypophosphatemia, Myopathy, Renal insufficiency, Nephropathy, Hypokalemia, Renal tub... ORPHA:213
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Abdominal pain, Ragged-red muscle fibers, Weight loss OMIM:613662
Coenzyme Q10 Deficiency, Primary, 1
Proteinuria, Anemia, Fatigue, Nephrotic syndrome, Elevated circulating creatine kinase concentrat... OMIM:607426
Split Cord Malformation
Hydronephrosis, Lower limb pain, Bowel incontinence, Renal duplication, Low back pain, Neurogenic... ORPHA:573278
Xfe Progeroid Syndrome
Proteinuria, Premature ovarian insufficiency, Renal insufficiency, Cachexia, Failure to thrive, H... OMIM:610965
Williams-Beuren Region Duplication Syndrome
Hydronephrosis, Chronic otitis media, Small for gestational age, Cryptorchidism, Unilateral renal... OMIM:609757
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Hydroureter OMIM:618240
Marchiafava-Bignami Disease
Facial palsy, Urinary incontinence, Limb hypertonia ORPHA:221074
Diffuse Alveolar Hemorrhage
Proteinuria, Leukocytosis, Anemia, Thrombocytopenia, Hematuria, Chest pain, Weight loss, Elevated... ORPHA:90060
Charcot-Marie-Tooth Disease Type 1F
Distal lower limb amyotrophy, Proximal muscle weakness in lower limbs, Distal lower limb muscle w... ORPHA:101085
Fanconi Renotubular Syndrome 2
Proteinuria, Hypophosphatemia, Decreased glomerular filtration rate, Glycosuria, Renal phosphate ... OMIM:613388
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Proximal renal tubular acidosis, Proteinuria, Unilateral renal dysplasia, Nephrocalcinosis, Chron... OMIM:146255
Idiopathic Achalasia
Decreased prealbumin level, Recurrent aspiration pneumonia, Chest pain, Weight loss ORPHA:930
Sarcoidosis
Maculopapular exanthema, Nephrocalcinosis, Hemolytic anemia, Keratoconjunctivitis sicca, Hypothyr... ORPHA:797
Wieacker-Wolff Syndrome, Female-Restricted
Weakness of facial musculature, Urinary incontinence, Achilles tendon contracture, Facial palsy, ... OMIM:301041
Transcobalamin Deficiency
Acute kidney injury, Lymphopenia, Methylmalonic aciduria, Thrombocytopenia, Pancytopenia, Neutrop... ORPHA:859
Intellectual Developmental Disorder, Autosomal Dominant 42
Hydronephrosis, Neurogenic bladder, Limb hypertonia, Lower limb muscle weakness, Ureteropelvic ju... OMIM:616973
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Exercise-induced myalgia, Exercise-induced rhabdomyolysis, Superficial dermal perivascular inflam... ORPHA:284426
Mitochondrial Membrane Protein-Associated Neurodegeneration
Urinary incontinence, Bowel incontinence ORPHA:289560
Spinocerebellar Ataxia 10
Urinary urgency, Urinary incontinence OMIM:603516
Central Diabetes Insipidus
Nocturia, Hyponatremia, Weight loss, Failure to thrive ORPHA:178029
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Hydronephrosis, Decreased body weight, Vesicoureteral reflux, Arthrogryposis multiplex congenita OMIM:618265
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Small for gestational age, Anemia, Renal insufficiency, Hyperalaninemia, Failure to thrive, Hypot... OMIM:619147
Immunoneurologic Disorder, X-Linked
Functional abnormality of the bladder OMIM:300076
Plasminogen Deficiency, Type I
Nephrolithiasis, Periodontitis, Decreased level of plasminogen, Nephritis, Conjunctivitis OMIM:217090