Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

Auditory Brain Stem Response

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

8 Images

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
Bladder trabeculation, Spastic/hyperactive bladder, Recurrent urinary tract infections, Urinary u... OMIM:615112
Posterior Urethral Valve
Dysuria, Unilateral renal dysplasia, Chronic kidney disease, Recurrent urinary tract infections, ... ORPHA:93110
Renal Dysplasia
Flank pain, Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethra... ORPHA:93108
Xanthinuria, Type I
Xanthinuria, Hyperxanthinemia, Hydronephrosis, Myopathy, Pyelonephritis, Xanthine nephrolithiasis OMIM:278300
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Nephronophthisis, Glycosuria, Hematuria, Tubulointerstitial nephri... OMIM:614817
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Failure to thrive, Stage 2 chronic kidney disease, Hypospadias, Recurrent urinary tract infection... OMIM:191800
Urofacial Syndrome 1
Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral valve, Urethral obstruc... OMIM:236730
Bladder Diverticulum
Dysuria, Solitary bladder diverticulum, Recurrent urinary tract infections, Hematuria, Prominent ... OMIM:109820
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Elevated circulating acylcarnitine concentration, Myalgia, Muscle fiber atrophy, Elevated circula... ORPHA:228302
Ochoa Syndrome
Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Urethral obstruction, Cr... ORPHA:2704
Renal Hypoplasia
Chronic kidney disease, Small for gestational age, Unilateral renal agenesis, Abnormal renal tubu... ORPHA:93101
Tubulointerstitial Nephritis With Uveitis
Panuveitis, Anterior uveitis, Reversible renal failure, Non-caseating epithelioid cell granulomat... OMIM:607665
Igg4-Related Kidney Disease
Abnormal ureter morphology, Pancreatitis, Elevated circulating C-reactive protein concentration, ... ORPHA:449395
Renal Failure, Progressive, With Hypertension
Nephritis, Elevated circulating creatinine concentration, Renal insufficiency, Proteinuria, Micro... OMIM:161900
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Torticollis, Unilateral renal atrophy, Nephritis, Oligospermia, Renal dysplasia, Pyelonephritis, ... OMIM:314300
Adrenomyodystrophy
Failure to thrive, Megacystis, Abnormality of the urinary system, Primary adrenal insufficiency, ... ORPHA:977
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Arthralgia, Arthritis OMIM:216950
Iga Nephropathy, Susceptibility To, 2
Arthralgia, Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic ... OMIM:613944
Nephronophthisis 18
Renal tubular atrophy, Nephronophthisis, Thickened glomerular basement membrane, Tubulointerstiti... OMIM:615862
Hereditary Amyloidosis With Primary Renal Involvement
Dyspepsia, Decreased glomerular filtration rate, Renal interstitial amyloid deposits, Elevated ci... ORPHA:85450
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Pain, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal uri... ORPHA:730
Congenital Megacalycosis
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... ORPHA:93109
Medullary cystic kidney disease 2
Renal tubular atrophy, Multiple renal cysts, Gout, Tubulointerstitial nephritis, Multiple small m... OMIM:603860
Spastic Paraplegia 41, Autosomal Dominant
Urinary urgency OMIM:613364
Spastic Paraplegia 13, Autosomal Dominant
Urinary bladder sphincter dysfunction, Urinary urgency, Lower limb muscle weakness, Urinary incon... OMIM:605280
Spastic Paraplegia 12, Autosomal Dominant
Urinary bladder sphincter dysfunction, Urinary urgency, Lower limb muscle weakness, Urinary incon... OMIM:604805
Lipoprotein Glomerulopathy
Glomerulopathy, Mesangial hypercellularity, Renal insufficiency, Proteinuria OMIM:611771
Spastic Paraplegia 19, Autosomal Dominant
Urinary bladder sphincter dysfunction, Urinary urgency, Lower limb muscle weakness, Urinary incon... OMIM:607152
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Nephrolithiasis, Fetal pyelectasis, Recurrent urinary tract infections, Megacystis OMIM:619365
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Hypertrophy of the urinary bladder, Autoimmune thrombocytopenia, Renal dysplasia, Renal hypoplasi... OMIM:601389
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Failure to thrive, Polyuria, Hypernatremia, Megacystis OMIM:125800
Spastic Paraplegia 72, Autosomal Recessive
Urinary bladder sphincter dysfunction OMIM:615625
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Failure to thrive, Polyuria, Hypernatremia, Megacystis OMIM:304800
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency
Urinary bladder sphincter dysfunction ORPHA:284282
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Failure to thrive, Pancreatitis, Hyperammonemia, Methylmalonic aciduria, Leukopenia, Tubulointers... OMIM:251000
Complement Factor I Deficiency
Recurrent skin infections, Recurrent urinary tract infections, Recurrent sinusitis, Renal insuffi... OMIM:610984
Microsporidiosis
Keratitis, Pancreatitis, Urethritis, Lymphadenitis, Myocarditis, Pneumonia, Weight loss, Rhinitis... ORPHA:2552
Endove Syndrome, Limb-Brain Type
Failure to thrive, Osteomyelitis, Recurrent urinary tract infections, Hydronephrosis, Neurogenic ... OMIM:619218
Spastic Paraplegia 8, Autosomal Dominant
Urinary bladder sphincter dysfunction, Urinary urgency, Lower limb muscle weakness, Urinary incon... OMIM:603563
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Nephrotic syndrome, Podocyte foot process effacement, Impaired lymphocyte transformation... OMIM:617006
Spastic Paraplegia 36, Autosomal Dominant
Urinary urgency, Lower limb muscle weakness, Urinary incontinence OMIM:613096
Autosomal Dominant Spastic Paraplegia Type 13
Urinary bladder sphincter dysfunction, Urinary urgency, Lower limb muscle weakness, Urinary incon... ORPHA:100994
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Thickened glomerular basement membrane, Hemolytic anemia, Acute kidney injury... OMIM:615008
Senior-Loken Syndrome 9
Nephronophthisis, Tubulointerstitial nephritis, Hypogonadism, Obesity, Stage 5 chronic kidney dis... OMIM:616629
Hyperprolinemia Type 1
Prolinuria, Hyperprolinemia, Nephropathy, Proteinuria ORPHA:419
Spastic Paraplegia 37, Autosomal Dominant
Urinary urgency, Urinary incontinence OMIM:611945
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Decreased glomerular filtration rate, Anemia, Impaired renal uric acid cle... OMIM:174000
Intellectual Developmental Disorder, X-Linked 29
Testicular dysgenesis, Urinary incontinence OMIM:300419
Hand-Foot-Genital Syndrome
Chordee, Micropenis, Bifid scrotum, Hypospadias, Uterus didelphys, Small thenar eminence, Uretero... OMIM:140000
Iga Nephropathy, Susceptibility To, 1
Arthralgia, Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic ... OMIM:161950
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:614199
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Skin rash, Glomerular C3 deposition, Arthritis, Abnormal glomerular mesangium... ORPHA:567544
Spastic Paraplegia 6, Autosomal Dominant
Urinary bladder sphincter dysfunction, Urinary urgency, Lower limb muscle weakness, Urinary incon... OMIM:600363
Spastic Paraplegia 27, Autosomal Recessive
Spastic/hyperactive bladder OMIM:609041
Systemic Lupus Erythematosus 16
Nephritis OMIM:614420
Spastic Paraplegia 3, Autosomal Dominant
Urinary bladder sphincter dysfunction, Urinary urgency, Lower limb muscle weakness, Distal lower ... OMIM:182600
Spastic Paraplegia 10, Autosomal Dominant
Urinary bladder sphincter dysfunction, Urinary urgency, Lower limb muscle weakness, Urinary incon... OMIM:604187
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Keratitis, Motheaten muscle fibers, Muscular dystrophy, Increased variability in muscle fiber dia... OMIM:226670
Congenital Primary Megaureter
Nephrolithiasis, Abdominal pain, Congenital megaureter, Abnormal penis morphology, Abnormality of... ORPHA:617
Prune Belly Syndrome
Urogenital sinus anomaly, Failure to thrive, Cryptorchidism, Abnormality of the ureter, Hydrouret... ORPHA:2970
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Proteinuria OMIM:614652
Nephrotic Syndrome, Type 23
Mesangial hypercellularity, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclero... OMIM:619201
Granulomatosis With Polyangiitis
Pancreatitis, Elevated circulating C-reactive protein concentration, Otitis media, Hematuria, Che... ORPHA:900
Siddiqi Syndrome
Lower limb amyotrophy, Flexion contracture, Urinary incontinence OMIM:618635
Autosomal Dominant Spastic Paraplegia Type 73
Distal lower limb muscle weakness, Distal lower limb amyotrophy, Urinary urgency, Urinary inconti... ORPHA:444099
Foix-Alajouanine Syndrome
Female sexual dysfunction, Back pain, Myelitis, Lower limb muscle weakness, Bowel incontinence, F... ORPHA:79093
Prune Belly Syndrome
Cryptorchidism, Hydroureter, Xerostomia, Aplasia of the abdominal wall musculature, Hydronephrosi... OMIM:100100
Adult Polyglucosan Body Disease
Urinary bladder sphincter dysfunction, Neurogenic bladder, Urinary incontinence ORPHA:206583
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... OMIM:602088
Silver-Russell Syndrome 1
Decreased response to growth hormone stimulation test, Small for gestational age, Hypospadias, Ab... OMIM:180860
Spastic Paraplegia, Ataxia, And Mental Retardation
Urinary bladder sphincter dysfunction, Urinary urgency, Lower limb muscle weakness, Urinary incon... OMIM:607565
Epidermolysis Bullosa, Junctional 5A, Intermediate
Urethral stenosis OMIM:619816
X-Linked Spastic Paraplegia Type 16
Functional abnormality of the bladder ORPHA:100997
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Glomerular deposits, Glomerulomegaly, Renal insufficiency, Proteinuria, Micro... OMIM:601894
Peroxisome Biogenesis Disorder 10B
Nephrocalcinosis, Neurogenic bladder OMIM:617370
Atresia Of Urethra
Hydroureter, Recurrent urinary tract infections, Bladder fistula, Renal dysplasia, Renal insuffic... ORPHA:105
Wolfram Syndrome 1
Megaloblastic anemia, Testicular atrophy, Hydroureter, Thrombocytopenia, Hypothyroidism, Hydronep... OMIM:222300
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Peritonitis, Renal cortical hyperechogenicity, Fetal megacystis, Pyelonephritis, Anuria, Megacystis OMIM:619351
Autosomal Recessive Spastic Paraplegia Type 48
Urinary bladder sphincter dysfunction, Elevated circulating creatine kinase concentration, Lower ... ORPHA:306511
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Nephropathy, Renal insufficiency, Proteinuria, Glomerulopathy, Lobular glomer... OMIM:137950
Autosomal Dominant Spastic Paraplegia Type 36
Arthritis, Urinary urgency, Urinary incontinence ORPHA:320365
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Chronic tubulointerstitial nephritis, Renal hypoplasia, Elevated circulating creatinine concentra... OMIM:614376
Drug Reaction With Eosinophilia And Systemic Symptoms
Nephrotic syndrome, Pustule, Skin rash, Lymphocytosis, Interstitial pneumonitis, Eosinophilia, My... ORPHA:139402
Lower Urinary Tract Obstruction, Congenital
Urethral stenosis, Congenital posterior urethral valve, Pollakisuria, Vesicoureteral reflux, Urin... OMIM:618612
Spastic Paraplegia 16, X-Linked
Urinary bladder sphincter dysfunction, Lower limb amyotrophy, Urinary urgency, Lower limb muscle ... OMIM:300266
Hemangioblastoma
Upper limb muscle weakness, Trigeminal neuralgia, Neurogenic bladder, Lower limb muscle weakness ORPHA:252054
Mitochondrial Complex I Deficiency, Nuclear Type 27
Neurogenic bladder OMIM:618248
Nephrotic Syndrome, Type 15
Nephrotic syndrome, Hypoalbuminemia, Proteinuria, Stage 5 chronic kidney disease, Minimal change ... OMIM:617609
Diencephalic Syndrome
Cachexia, Decreased body weight, Hyperhidrosis, Long penis ORPHA:1672
Spastic Paraplegia 4, Autosomal Dominant
Urinary bladder sphincter dysfunction, Urinary urgency, Lower limb muscle weakness, Low back pain... OMIM:182601
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Myalgia, Hyperlipidemia, Episodic abdominal pai... ORPHA:157
Lymphatic Filariasis
Hydrocele testis, Pain, Nephrotic syndrome, Urethral obstruction, Orchitis, Abnormality of the ki... ORPHA:2035
Lead Poisoning
Abdominal cramps, Abnormal T cell morphology, Abnormal sperm morphology, Decreased female libido,... ORPHA:330015
Thyrocerebrorenal Syndrome
Renal insufficiency, Thrombocytopenia, Nephritis, Abnormality of the musculature of the limbs ORPHA:3327
Igg4-Related Retroperitoneal Fibrosis
Hydrocele testis, Impotence, Elevated circulating C-reactive protein concentration, Rheumatoid ar... ORPHA:49041
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Abnormality of the uterus, Horsesh... OMIM:617805
Duplication Of Urethra
Uterus didelphys, Clitoral hypertrophy, Rectourethral fistula, Bladder duplication, Chordee, Pain... ORPHA:237
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Arthralgia, Nephrotic range proteinuria, Macroscopic hematur... OMIM:613496
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A
Urinary urgency, Urinary incontinence OMIM:156310
3-Methylglutaconic Aciduria Type 9
Slender build, Failure to thrive, 3-Methylglutaconic aciduria, Urinary incontinence ORPHA:505216
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Stage 5 chronic kidney dise... OMIM:256020
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
2p15-16.1 microdeletion syndrome
Camptodactyly of finger, Hydronephrosis DECIPHER:70
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Hypernatremia, Hydronephrosis, Pituitary h... OMIM:615926
Leigh Syndrome With Nephrotic Syndrome
Nephrotic syndrome, Renal tubular acidosis, Tubulointerstitial nephritis, Renal cyst, Hypoalbumin... ORPHA:255249
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Prostatitis, Decreased response to growth hormone stimulation test, Pyoderma, Enterovi... OMIM:307200
Fechtner syndrome
Neutrophil inclusion bodies, Nephritis, Menorrhagia, Hematuria, Leukocyte inclusion bodies, Prote... OMIM:153640
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... OMIM:613092
Autosomal Recessive Cutis Laxa Type 1
Urethral diverticulum, Recurrent urinary tract infections, Recurrent pneumonia, Pyelonephritis, V... ORPHA:90349
Lipodystrophy, Partial, Acquired, Susceptibility To
Nephrotic syndrome, Abnormal circulating lipid concentration, Membranoproliferative glomeruloneph... OMIM:608709
Hereditary Renal Hypouricemia
Chronic kidney disease, Increased blood urea nitrogen, Back pain, Decreased glomerular filtration... ORPHA:94088
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612925
Birk-Landau-Perez Syndrome
Stage 3 chronic kidney disease, Limb hypertonia, Hyperechogenic kidneys, Failure to thrive in inf... OMIM:617595
Majeed Syndrome
Bone pain, Failure to thrive, Myalgia, Inflammatory abnormality of the skin, Osteomyelitis, Pustu... ORPHA:77297
Atypical Hemolytic Uremic Syndrome
Hematuria, Acute kidney injury, Proteinuria, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Eosinophilic Granulomatosis With Polyangiitis
Myalgia, Sinusitis, Skin rash, Abdominal pain, Eosinophilia, Endocarditis, Hematuria, Myocarditis... ORPHA:183
Autosomal Dominant Spastic Paraplegia Type 6
Skeletal muscle atrophy, Urinary incontinence ORPHA:100988
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Aminoaciduria, Cachexia, Proximal tubulopathy, Weight loss OMIM:612075
Combined Oxidative Phosphorylation Deficiency 9
Hyperalaninemia, Failure to thrive, Tubulointerstitial nephritis OMIM:614582
Preeclampsia/Eclampsia 1
Thrombocytopenia, Proteinuria OMIM:189800
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Gastritis, Eczema, Decreased prealbumin level, Pneumonia, Failure to thrive in infancy, Nephrotic... ORPHA:37042
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Nephrotic syndrome, Glomerular subendothelial electron-dense deposits, Ac... ORPHA:54370
Spastic Paraplegia 76, Autosomal Recessive
Skeletal muscle atrophy, Lower limb muscle weakness, Urinary incontinence OMIM:616907
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Megacystis, Hydroureter, Hydronephrosis, Fetal megacystis OMIM:619362
Nail-Patella-Like Renal Disease
Glomerulopathy, Microscopic hematuria, Renal insufficiency, Proteinuria ORPHA:2613
Focal Segmental Glomerulosclerosis 6
Chronic kidney disease, Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glo... OMIM:614131
Listeriosis
Abscess, Myocarditis, Pneumonia, Pericarditis, Arthralgia, Septic arthritis, Osteomyelitis, Back ... ORPHA:533
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612922
Fowler Urethral Sphincter Dysfunction Syndrome
Dysuria, Amenorrhea, Abnormality of the urethra, Menorrhagia, Oligomenorrhea, Urinary retention, ... ORPHA:2795
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal tubular atrophy, Nephritis, Decreased glomerular filtration rate, Nephropathy, Gout, Renal ... OMIM:162000
Familial Visceral Myopathy
Hydroureter, Aplasia/Hypoplasia of the abdominal wall musculature, Camptodactyly of finger, Hyper... ORPHA:2604
Porphyria Variegata
Chronic kidney disease, Back pain, Abdominal pain, Increased urinary porphobilinogen, Elevated ur... ORPHA:79473
Pauci-Immune Glomerulonephritis
Arthralgia, Pancreatitis, Nephrotic range proteinuria, Decreased glomerular filtration rate, Abdo... ORPHA:93126
Polyglucosan Body Neuropathy, Adult Form
Neurogenic bladder OMIM:263570
Spastic Paraplegia 48, Autosomal Recessive
Lower limb muscle weakness, Urinary incontinence OMIM:613647
Perineural Cyst
Female sexual dysfunction, Impotence, Dyspareunia, Hip pain, Sciatica, Anal pain, Chest pain, Gro... ORPHA:65250
Congenital Disorder Of Glycosylation, Type Iii
Neurogenic bladder OMIM:613612
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis ORPHA:1450
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:301028
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612926
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:618177
Spastic Paraplegia 11, Autosomal Recessive
Urinary bladder sphincter dysfunction, Urinary urgency, Lower limb muscle weakness, Thenar muscle... OMIM:604360
Nephrotic Syndrome, Type 17
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Microscopi... OMIM:618176
Drug-Induced Lupus Erythematosus
Constitutional symptom, Myalgia, Elevated circulating C-reactive protein concentration, Increased... ORPHA:231111
Apnea, Central Sleep
Urinary incontinence OMIM:207720
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Interosseus muscle atrophy, Fiber type grouping, Thenar muscle atrophy, Distal lower limb muscle ... OMIM:500013
Preeclampsia
Chronic kidney disease, Abdominal pain, Small for gestational age, Abnormality of the kidney, Inc... ORPHA:275555
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Chronic kidney disease, Proteinuria, Steroid-resistant nephro... OMIM:618178
Autosomal Recessive Frontotemporal Pachygyria
Urinary incontinence ORPHA:329329
Multiple Sclerosis, Susceptibility To
Urinary hesitancy, Urinary incontinence OMIM:126200
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Episodic hyperhidrosis, Osteomyelitis, Urinary incontinence OMIM:613115
Visceral Myopathy 1
Pancreatitis, Abdominal pain, Urinary retention, Hydronephrosis, Vesicoureteral reflux, Megacystis OMIM:155310
Focal Segmental Glomerulosclerosis 2
Chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stag... OMIM:603965
Iga Nephropathy, Susceptibility To, 3
Mesangial hypercellularity, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chr... OMIM:616818
Autosomal Recessive Spastic Paraplegia Type 27
Spastic/hyperactive bladder ORPHA:101007
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Increased variability in muscle fiber diameter, Neurogenic bladder, Hyperhidrosis, Type 2 muscle ... OMIM:619173
Macdermot-Winter Syndrome
Camptodactyly of finger, Hydronephrosis, Hypoplastic male external genitalia OMIM:247990
Spastic Paraplegia 5A, Autosomal Recessive
Lower limb amyotrophy, Lower limb muscle weakness, Abnormal circulating cholesterol concentration... OMIM:270800
Nephrotic Syndrome, Type 16
Nephrotic syndrome, Hematuria, Proteinuria OMIM:617783
X-Linked Adrenoleukodystrophy
Adrenal insufficiency, Urinary bladder sphincter dysfunction, Impotence, Abnormality of adrenal p... ORPHA:43
3-Methylglutaconic Aciduria, Type Ix
Failure to thrive, 3-Methylglutaconic aciduria, 3-Methylglutaric aciduria, Urinary incontinence OMIM:617698
Spastic Paraplegia 85, Autosomal Recessive
Torticollis, Generalized amyotrophy, Lower limb muscle weakness, Urinary incontinence OMIM:619686
Charcot-Marie-Tooth Disease, Type 4B3
Limb muscle weakness, Urinary incontinence OMIM:615284
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Megacystis, Hydroureter, Hydronephrosis OMIM:619431
Alkaptonuria
Nephrolithiasis, Prostatitis, Aminoaciduria, Tendon rupture, Osteoarthritis, Thickened Achilles t... ORPHA:56
Myopathy, Myofibrillar, 7
Myalgia, Multiple joint contractures, Nemaline bodies, Flexion contracture, Z-band streaming, Fac... OMIM:617114
Nephrotic Syndrome, Type 9
Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbuminemia, Stage 5 chr... OMIM:615573
Nephrotic Syndrome, Type 2
Hyperlipidemia, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbumine... OMIM:600995
Spinocerebellar Ataxia 48
Cachexia, Urinary incontinence OMIM:618093
Recessive Dystrophic Epidermolysis Bullosa Inversa
Abnormality of the urinary system, Urethral stricture, Vaginal stricture, Anemia, Gastrointestina... ORPHA:79409
Adult-Onset Distal Myopathy Due To Vcp Mutation
Facial diplegia, Myalgia, Intrinsic hand muscle atrophy, Back pain, EMG: myopathic abnormalities,... ORPHA:329478
Autosomal Dominant Spastic Paraplegia Type 8
Peroneal muscle atrophy, Urinary urgency, Lower limb muscle weakness, Urinary incontinence ORPHA:100989
Image Syndrome
Hypospadias, Cryptorchidism, Hydronephrosis, Hypogonadism ORPHA:85173
Leukodystrophy, Progressive, Early Childhood-Onset
Neurogenic bladder, Flexion contracture OMIM:617762
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Pancreatitis, Decreased glomerular filtration rate,... ORPHA:470
Autosomal Dominant Spastic Paraplegia Type 12
Female sexual dysfunction, Lower limb amyotrophy, Urinary urgency, Lower limb muscle weakness, Ma... ORPHA:100993
Agammaglobulinemia, X-Linked
Prostatitis, Neutropenia, Pyoderma, Enteroviral hepatitis, Recurrent urinary tract infections, B ... OMIM:300755
Alstrom Syndrome
Chronic active hepatitis, Nephritis, Decreased response to growth hormone stimulation test, Otiti... OMIM:203800
Visceral Myopathy 2
Necrotizing enterocolitis, Esophagitis, Megacystis OMIM:619350
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Hydronephrosis ORPHA:2669
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Aminoaciduria, Renal tubular atrophy, Hyposthenuria, Glycosuria, Hypercalciuria... OMIM:308990
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Chronic kidney disease, Nephrotic syndrome, Decreased glomerular filtration rate, Tubulointerstit... ORPHA:488627
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbuminemia, Anemia, Stage 5... OMIM:603278
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria OMIM:613913
Autosomal Recessive Spastic Paraplegia Type 77
Lower limb amyotrophy, Detrusor sphincter dyssynergia, Bilateral cryptorchidism, Neurogenic bladd... ORPHA:466722
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hyperammonemia, Myoglobinuria, ... ORPHA:228308
Autosomal Recessive Spastic Paraplegia Type 46
Infertility, Reduced sperm motility, Abnormal tendon morphology, Decreased testicular size, Abnor... ORPHA:320391
Acquired Partial Lipodystrophy
Lymphocytosis, Myopathy, Proteinuria, Glomerulopathy, Microscopic hematuria, Arthralgia ORPHA:79087
Myh9-Related Disease
Nephritis, Neutrophil inclusion bodies, Nephropathy, Congenital thrombocytopenia, Menorrhagia, In... ORPHA:182050
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Neurogenic bladder OMIM:615911
3-Methylglutaconic Aciduria, Type I
Failure to thrive, 3-Methylglutaconic aciduria, Urinary incontinence OMIM:250950
Hereditary Xanthinuria
Crystalluria, Rheumatoid arthritis, Flank pain, Recurrent urinary tract infections, Xanthinuria, ... ORPHA:3467
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Reduced renal corticomedullary differentiation, Renal cortical hyperechogenicity, Beta 2-microglo... OMIM:611555
Isolated Epispadias
Anteriorly displaced urethral meatus, Epispadias, Bifid clitoris, Vesicoureteral reflux, Urinary ... ORPHA:93928
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Hydroureter, Multicystic kidney dysplasia, Cryptorchidism, Megacystis ORPHA:2241
Spastic Paraplegia 46, Autosomal Recessive
Infertility, Limb muscle weakness, Lower limb muscle weakness, Urinary incontinence OMIM:614409
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Abnormality of the kidney, Tubulointerstitial nephritis, Enuresis, Camptodactyly ORPHA:459061
Junctional Epidermolysis Bullosa With Pyloric Atresia
Aplasia of the bladder, Ureterocele, Recurrent skin infections, Urethral stricture, Hematuria, Re... ORPHA:79403
Hinman Syndrome
Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Enuresis, Vesicoureteral... ORPHA:84085
Brain-Lung-Thyroid Syndrome
Hypoparathyroidism, Failure to thrive, Hypospadias, Compensated hypothyroidism, Congenital hypoth... ORPHA:209905
Autosomal Dominant Spastic Paraplegia Type 4
Urinary bladder sphincter dysfunction, Urinary urgency ORPHA:100985
Galloway-Mowat Syndrome 8
Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glomerulosclerosis, Protein... OMIM:618349
Hardikar Syndrome
Failure to thrive, Hyperbilirubinemia, Abdominal pain, Splenomegaly, Hydroureter, Recurrent urina... OMIM:301068
Scalp-Ear-Nipple Syndrome
Abnormality of the kidney, Recurrent urinary tract infections, Ureteral duplication, Hypohidrosis... ORPHA:2036
22Q11.2 Duplication Syndrome
Displacement of the urethral meatus, Urethral stenosis, Hydronephrosis ORPHA:1727
Autoinflammatory-Pancytopenia Syndrome
Failure to thrive, Hemophagocytosis, Intestinal inflammation, Hepatosplenomegaly, Membranoprolife... OMIM:619858
X-Linked Intellectual Disability, Schimke Type
Hip contracture, Elbow flexion contracture, Hydronephrosis, Knee flexion contracture, Ankle flexi... ORPHA:85285
Maternal Uniparental Disomy Of Chromosome 4
Decreased body weight, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, ... ORPHA:96180
C3 Glomerulopathy
Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Membranoproliferative glo... ORPHA:329918
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephrotic syndrome, Nephropathy, Focal segmental glomerulosclerosis, Proteinuria, Renal insuffici... OMIM:254900
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in lower limbs, Exercise-induced myalgia, Calf muscle hypertrophy, EMG: ... ORPHA:169189
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Hemolytic anemia, Hypertriglyceridemia, Renal insufficie... OMIM:245900
Baralle-Macken Syndrome
Obesity, Urinary incontinence OMIM:619255
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Focal segmental glomerulosclerosis, Hematuria, Proteinuria, Renal insufficiency OMIM:607832
Lymphatic Malformation 1
Hydrocele testis, Urethral stricture OMIM:153100
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Neurogenic bladder OMIM:619780
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Increased blood urea nitrogen, Macroscopic hematuria, Membranoprolifer... ORPHA:251004
Hemorrhagic Fever-Renal Syndrome
Decreased glomerular filtration rate, Hematuria, Elevated circulating creatinine concentration, P... ORPHA:340
Amyotrophic Lateral Sclerosis 5, Juvenile
Distal amyotrophy, Urinary incontinence OMIM:602099
Amyloidosis, Familial Visceral
Nephrotic syndrome, Skin rash, Splenomegaly, Nephropathy, Hematuria, Proteinuria OMIM:105200
Autosomal Recessive Spastic Paraplegia Type 78
Facial myokymia, Neurogenic bladder ORPHA:513436
Melioidosis
Splenic abscess, Prostatitis, Osteoarthritis, Brain abscess, Abnormality of the spleen, Acute inf... ORPHA:31202
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Distal amyotrophy, Urinary incontinence ORPHA:352641
Spastic Paraplegia 44, Autosomal Recessive
Urinary incontinence OMIM:613206
Glycogen Storage Disease X
Exercise intolerance, Exercise-induced myalgia, Elevated circulating creatine kinase concentratio... OMIM:261670
Sjogren Syndrome
Rheumatoid arthritis, Tubulointerstitial nephritis, Xerostomia, Keratoconjunctivitis sicca OMIM:270150
Systemic Lupus Erythematosus
Nephritis, Leukopenia, Arthritis, Hemolytic anemia, Lupus nephritis, Malar rash, Pericarditis, Th... OMIM:152700
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Foot dorsiflexor weakness, Focal segmental glomerulosclerosis, Proteinuria, Distal upper limb amy... OMIM:614455
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Intrinsic hand muscle atrophy, Foot dorsiflexor weakness, Distal amyotrophy, Wrist drop, Urinary ... OMIM:616688
Cog5-Cdg
Joint contracture of the hand, Micropenis, Hepatosplenomegaly, Camptodactyly of finger, Cryptorch... ORPHA:263487
Spastic Paraplegia 83, Autosomal Recessive
Urinary urgency OMIM:619027
Thrombotic Thrombocytopenic Purpura
Abdominal pain, Decreased serum creatinine, Hematuria, Renal insufficiency, Acute kidney injury, ... ORPHA:54057
Thyrocerebroretinal Syndrome
Thrombocytopenia, Skeletal muscle atrophy, Nephritis OMIM:274240
Spastic Paralysis, Infantile-Onset Ascending
Achilles tendon contracture, Urinary incontinence OMIM:607225
Lymphedema-Distichiasis Syndrome
Recurrent skin infections, Recurrent urinary tract infections, Renal duplication, Tubulointerstit... ORPHA:33001
Fibronectin Glomerulopathy
Nephrotic syndrome, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, H... ORPHA:84090
Basal Ganglia Calcification, Idiopathic, 1
Abnormal circulating calcium concentration, Urinary incontinence OMIM:213600
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Failure to thrive, Small for gestational age, Diaphragmatic eventration, Camptodactyly of finger,... OMIM:604320
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis OMIM:618270
Intellectual Developmental Disorder, Autosomal Recessive 70
Urinary incontinence OMIM:618402
Dysmyelination With Jaundice
Hydroureter, Cryptorchidism, Hypoplasia of penis, Hydronephrosis OMIM:224250
Trisomy 17P
Hypoplasia of penis, Flexion contracture, Macroglossia, Polycystic kidney dysplasia, Urethral ste... ORPHA:261290
Amyotrophic Dystonic Paraplegia
Skeletal muscle atrophy, Bowel incontinence, Urinary incontinence OMIM:105300
Pelizaeus-Merzbacher Disease In Female Carriers
Abnormality of the lower urinary tract, Neurogenic bladder ORPHA:280229
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Multiple joint contractures, Neurogenic bladder ORPHA:466934
Congenital Disorder Of Glycosylation, Type Iie
Failure to thrive, Splenomegaly, Elevated circulating creatine kinase concentration, Hydronephros... OMIM:608779
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Failure to thrive, Duplicated collecting system, Hydronephrosis OMIM:617093
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Low-molecular-weight proteinuria,... OMIM:310468
Glycogen Storage Disease Xi
Myalgia, Exercise intolerance, Increased serum pyruvate, Elevated circulating creatine kinase con... OMIM:612933
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Thickened glomerular basement membrane, Glomerular basement membrane disruption, Nephritis, Stage... OMIM:609057
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Urinary urgency, Urinary incontinence OMIM:612319
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Urinary incontinence OMIM:249900
Adenine Phosphoribosyltransferase Deficiency
Nephrolithiasis, Dysuria, Chronic kidney disease, Macroscopic hematuria, Flank pain, Recurrent ur... ORPHA:976
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Nephrotic syndrome, Lymphopenia, Diffuse mesangial sclerosis, Micropenis, ... OMIM:617575
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal lymphocytic tubulitis, Panuveitis, Elevated circulating C-reactive protein concentration, D... ORPHA:91500
Congenital Anomalies Of Kidney And Urinary Tract 2
Back pain, Congenital megaureter, Hydroureter, Flank pain, Hyperechogenic kidneys, Renal dysplasi... OMIM:143400
Scalp-Ear-Nipple Syndrome
Renal agenesis, Pyelonephritis, Renal hypoplasia, Renal insufficiency OMIM:181270
Alport Syndrome 3, Autosomal Dominant
Nephrotic syndrome, Hypophosphatemia, Nephritis, Azotemia, Hematuria, Thickened glomerular baseme... OMIM:104200
Neuronal Intranuclear Inclusion Disease
Urinary incontinence OMIM:603472
Interstitial Cystitis
Abnormality of the urethra, Nocturia, Urinary urgency, Functional abnormality of the bladder, Abn... ORPHA:37202
Familial Mediterranean Fever, Autosomal Dominant
Abdominal pain, Peritonitis, Erysipelas, Chest pain, Renal insufficiency, Proteinuria, Renal amyl... OMIM:134610
Leukodystrophy, Hypomyelinating, 12
Neurogenic bladder, Flexion contracture OMIM:616683
Anti-Glomerular Basement Membrane Disease
Myalgia, Hematuria, Arthritis, Chest pain, Renal insufficiency, Proteinuria, Glomerulopathy, Anem... ORPHA:375
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Failure to thrive, Chronic kidney disease, Hypomagnesemia, Type 2 muscle fiber atrophy, Polyuria,... OMIM:613845
Unilateral Focal Polymicrogyria
Urinary incontinence ORPHA:268947
Hydrocephalus, Normal-Pressure, 1
Bowel incontinence, Urinary incontinence OMIM:236690
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Plasmacytosis, Pneumonia, Glomerulonephritis, Autoimmune hemolytic anemia OMIM:247800
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Abnormal renal physiology, Schistocytosis, Elevated circulating cr... OMIM:274150
Spastic Paraplegia 7, Autosomal Recessive
Urinary bladder sphincter dysfunction, Urinary urgency, Lower limb muscle weakness, Lower limb hy... OMIM:607259
Spinocerebellar Ataxia 42
Urinary urgency, Urinary incontinence OMIM:616795
Nephrotic Syndrome, Type 6
Nephrotic syndrome, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Hypoalbumine... OMIM:614196
46,Xy Sex Reversal 4
Sex reversal, Hypoplasia of the uterus, Increased blood urea nitrogen, Hypergonadotropic hypogona... OMIM:154230
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Elevated maternal serum alpha-fetoprotein, Arthrogryposis multiplex congenita, Urethrovesical occ... OMIM:226730
Spastic Paraplegia 29, Autosomal Dominant
Nocturia, Urinary urgency, Urinary hesitancy, Neonatal hyperbilirubinemia, Urinary incontinence OMIM:609727
Adrenoleukodystrophy
Urinary bladder sphincter dysfunction, Impotence, Elevated circulating long chain fatty acid conc... OMIM:300100
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Failure to thrive, Aminoaciduria, Exercise intolerance, Ragged-red muscle fibers, Tubulointerstit... OMIM:124000
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Bladder diverticulum, Blepharitis, Decreased response to growth hormone stimulation test, Uretero... OMIM:604292
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hyperammonemia, Cachexia, Exercise-induced myalgia, Elevated circulating creatine kinase concentr... ORPHA:42
Immunodeficiency 18
Lymphopenia, Decreased proportion of CD3-positive T cells, Recurrent otitis media OMIM:615615
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Aminoaciduria, Cachexia, Methylmalonic aciduria, Elevated circulating creatine kinase concentrati... ORPHA:1933
Multicentric Reticulohistiocytosis
Histiocytosis, Cachexia, Arthritis ORPHA:139436
Vesicoureteral Reflux 3
Hydroureter, Vesicoureteral reflux, Hydronephrosis OMIM:613674
Autosomal Spastic Paraplegia Type 72
Urinary bladder sphincter dysfunction ORPHA:401849
Cholestasis, Progressive Familial Intrahepatic, 12
Hyperbilirubinemia, Splenomegaly, Conjugated hyperbilirubinemia, Proteinuria, Increased serum bil... OMIM:620010
Igg4-Related Submandibular Gland Disease
Prostatitis, Abnormality of the kidney, Eosinophilia, Xerostomia, Renal insufficiency, Cholangitis ORPHA:449432
Denys-Drash Syndrome
Nephrotic syndrome, Male pseudohermaphroditism, Nephroblastoma, Nephropathy, Gonadal dysgenesis, ... ORPHA:220
Spastic Paraplegia 15, Autosomal Recessive
Urinary bladder sphincter dysfunction, Urinary urgency, Lower limb muscle weakness, Distal amyotr... OMIM:270700
Pure Autonomic Failure
Dysuria, Constitutional symptom, Impotence, Anhidrosis, Urinary incontinence ORPHA:441
Gitelman Syndrome
Graves disease, Gout, Proteinuria, Primary hyperaldosteronism, Renal potassium wasting, Hyperhidr... ORPHA:358
Orofaciodigital Syndrome Xviii
Urinary incontinence OMIM:617927
Peroxisome Biogenesis Disorder 14B
Hydrocele testis, Urinary incontinence OMIM:614920
Macs Syndrome
Decreased body weight, Hypergonadotropic hypogonadism, Fatigue, Urethral stenosis, Recurrent apht... OMIM:613075
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Renal insufficiency, Hypercalcemia, Proteinuria, Glomerulopathy, Hyperparathyroidism, Anemia ORPHA:2668
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Hypergonadotropic hypogonadism, Urinary incontinence OMIM:617145
Frasier Syndrome
Ovarian gonadoblastoma, Nephrotic syndrome, Male pseudohermaphroditism, Primary amenorrhea, Gonad... OMIM:136680
Syringomyelia, Noncommunicating Isolated
Neck pain, Limb muscle weakness, Urinary incontinence OMIM:186700
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Elevated circulating creatine kinase concentration, Bowel incontinence, Recurrent pneumonia, Arth... ORPHA:496641
Maternally-Inherited Diabetes And Deafness
Myalgia, Abnormal circulating lipid concentration, Renal insufficiency, Proteinuria, Glomerulopathy ORPHA:225
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Colitis, Urethral stricture, Hypohidrosis, Recurrent pneumonia, Bronchiectasis, Failure to thrive... OMIM:301220
Heme Oxygenase 1 Deficiency
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:614034
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal urine output, Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Abd... ORPHA:567548
Alport Syndrome 2, Autosomal Recessive
Nephrotic syndrome, Nephritis, Hematuria, Thickened glomerular basement membrane, Renal insuffici... OMIM:203780
Megabladder, Congenital
Multiple glomerular cysts, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Fetal megacystis OMIM:618719
Cednik Syndrome
Nephrotic syndrome, Proteinuria, Hypogonadism ORPHA:66631
Mu-Heavy Chain Disease
Bence Jones Proteinuria, Splenomegaly, Nephropathy, Abnormal B cell count, Weight loss, Anemia ORPHA:100024
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Xerostomia, Neurogenic bladder OMIM:618527
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia, Camptodactyly of finger, Nephropathy, Proteinuria ORPHA:2774
Nephrotic Syndrome, Type 8
Chronic kidney disease, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Hypoalbumin... OMIM:615244
Nephrotic Syndrome, Type 3
Nephrotic syndrome, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria,... OMIM:610725
Glycogen Storage Disease V
Dark urine, Exercise intolerance, Exercise-induced myalgia, Myoglobinuria, Elevated circulating c... OMIM:232600
Frasier Syndrome
Nephrotic syndrome, Ambiguous genitalia, male, Gonadal dysgenesis with female appearance, male, S... ORPHA:347
Dyskeratosis Congenita, Autosomal Dominant 2
Failure to thrive, Leukopenia, Urethral stricture, Aplastic anemia, Pancytopenia, Neutropenia, Th... OMIM:613989
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Flexion contracture of finger, Increased endomysial connective tissue, Proximal muscle weakness i... ORPHA:206549
Galactosemia I
Increased level of galactitol in urine, Failure to thrive, Increased level of galactitol in red b... OMIM:230400
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Distal amyotrophy, Impotence, Foot dorsiflexor weakness, Urinary incontinence ORPHA:98
Currarino Syndrome
Bicornuate uterus, Recurrent urinary tract infections, Septate vagina, Horseshoe kidney, Perianal... OMIM:176450
Machado-Joseph Disease Type 1
Skeletal muscle atrophy, Neurogenic bladder, Distal lower limb amyotrophy ORPHA:276238
Machado-Joseph Disease Type 2
Skeletal muscle atrophy, Neurogenic bladder, Distal lower limb amyotrophy ORPHA:276241
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Urinary incontinence OMIM:600795
Pediatric Systemic Lupus Erythematosus
Dark urine, Discoid lupus rash, Microangiopathic hemolytic anemia, Nephrotic syndrome, Lymphopeni... ORPHA:93552
Dent Disease 2
Chronic kidney disease, Hypophosphatemia, Aminoaciduria, Elevated circulating creatine kinase con... OMIM:300555
Autosomal Recessive Spastic Paraplegia Type 76
Functional abnormality of the bladder ORPHA:488594
Genetic Steroid-Resistant Nephrotic Syndrome
Chronic kidney disease, Diffuse mesangial sclerosis, Abdominal pain, Peritonitis, Focal segmental... ORPHA:656
Nephrotic Syndrome, Type 1
Congenital nephrotic syndrome, Hyperlipidemia, Renal tubular atrophy, Diffuse mesangial sclerosis... OMIM:256300
Orthostatic Hypotension 1
Hypomagnesemia, Increased blood urea nitrogen, Reduced circulating prolactin concentration, Weakn... OMIM:223360
Distal 16P11.2 Microdeletion Syndrome
Chronic kidney disease, Renal agenesis, Abnormality of the kidney, Proteinuria, Hyperuricemia, Ob... ORPHA:261222
Hereditary Motor And Sensory Neuropathy, Type Iic
Hand muscle atrophy, Urinary urgency, Foot dorsiflexor weakness, Shoulder girdle muscle atrophy, ... OMIM:606071
Neural Tube Defects, Susceptibility To
Urinary incontinence OMIM:182940
Wolfram Syndrome 2
Oligomenorrhea, Primary amenorrhea, Neurogenic bladder OMIM:604928
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Obesity, Urinary incontinence ORPHA:464282
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephrotic syndrome, Cryptorchidism, Nephropathy, Proteinuria, Anemia ORPHA:1192
Igg4-Related Ophthalmic Disease
Keratitis, Sinusitis, Prostatitis, Pancreatitis, Orchitis, Elevated circulating C-reactive protei... ORPHA:449563
Renpenning Syndrome
Cachexia, Hypospadias, Skeletal muscle atrophy, Decreased testicular size ORPHA:3242
Proteinuria, Chronic Benign
Renal insufficiency, Albuminuria, Proteinuria OMIM:618884
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Increased blood urea nitrogen, Schistocytosis, Elevated circulating creatinine co... OMIM:235400
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Neurogenic bladder ORPHA:500144
Nephrotic Syndrome, Type 11
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, IgA deposition in the glo... OMIM:616730
Autosomal Dominant Cutis Laxa
Unilateral renal agenesis, Bladder diverticulum, Pyelonephritis, Bronchiectasis ORPHA:90348
Wolfram Syndrome, Mitochondrial Form
Megaloblastic anemia, Hydroureter, Thrombocytopenia, Hydronephrosis, Neutropenia, Sideroblastic a... OMIM:598500
Immunodeficiency 19
Failure to thrive, Lymphopenia, Recurrent otitis media OMIM:615617
Congenital Nephrotic Syndrome, Finnish Type
Abnormal renal tubule morphology, Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, ... ORPHA:839
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Ovarian cyst, Multicystic kidney dysplasia, Hypoplasia of the bladder,... OMIM:614527
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Elevated urinary dopamine, Nocturia, Fatigue, Retrograde ejaculati... ORPHA:230
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Rhabdomyolysis, Myalgia, Myoglobinuria, Renal insufficiency OMIM:255110
Adrenomyeloneuropathy
Adrenal insufficiency, Urinary bladder sphincter dysfunction, Female sexual dysfunction, Adrenoco... ORPHA:139399
Spastic Paraplegia 54, Autosomal Recessive
Bowel incontinence, Lower limb muscle weakness, Urinary incontinence OMIM:615033
Galloway-Mowat Syndrome 2, X-Linked
Nephrotic syndrome, Proteinuria, Glomerular sclerosis, Stage 5 chronic kidney disease, Minimal ch... OMIM:301006
Glycogen Storage Disease Due To Aldolase A Deficiency
Myalgia, Muscle fiber atrophy, Decreased muscle mass, Elevated creatine kinase after exercise, EM... ORPHA:57
Severe Generalized Junctional Epidermolysis Bullosa
Ureteral obstruction, Urinary retention, Pneumonia, Gastrointestinal inflammation, Pyoderma, Apla... ORPHA:79404
Machado-Joseph Disease Type 3
Skeletal muscle atrophy, Neurogenic bladder, Distal lower limb amyotrophy ORPHA:276244
Imerslund-Grasbeck Syndrome 1
Megaloblastic anemia, Microscopic hematuria, Proteinuria OMIM:261100
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Failure to thrive, Giant cell hepatitis, Renal tubular acidosis, Aminoaciduria, Right ventricular... OMIM:613404
Mckusick-Kaufman Syndrome
Urogenital sinus anomaly, Failure to thrive, Renal hypoplasia/aplasia, Hydrometrocolpos, Glandula... ORPHA:2473
Myopathy, Congenital, Progressive, With Scoliosis
Facial hypotonia, Cryptorchidism, Hydronephrosis, Renal atrophy, Congenital contracture, Skeletal... OMIM:618578
Galloway-Mowat Syndrome 6
Nephrotic syndrome, Decreased body weight, Decreased response to growth hormone stimulation test,... OMIM:618347
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydroureter, Hydronephrosis OMIM:264140
Primary Sjögren Syndrome
Chronic active hepatitis, Vaginal dryness, Arthralgia, Fatigue, Arthritis, Arteritis, Lymphopenia... ORPHA:289390
Nephronophthisis 13
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, Mu... OMIM:614377
Autoimmune Polyendocrinopathy Type 3
Iridocyclitis, Graves disease, Hypergonadotropic hypogonadism, Rheumatoid arthritis, Leukopenia, ... ORPHA:227982
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myalgia, Increased serum pyruvate, Elevated circulating creatine kinase concentration, Myoglobinu... ORPHA:2364
Acute Intermittent Porphyria
Dark urine, Dysuria, Back pain, Abdominal pain, Proximal muscle weakness in lower limbs, Increase... ORPHA:79276
Huntington Disease-Like 3
Bowel incontinence, Flexion contracture, Urinary incontinence OMIM:604802
Autoimmune Polyendocrinopathy Type 4
Iridocyclitis, Hypergonadotropic hypogonadism, Rheumatoid arthritis, Leukopenia, Xerostomia, Auto... ORPHA:227990
Coenzyme Q10 Deficiency, Primary, 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Diffuse mesangial sclerosis OMIM:614650
Childhood Disintegrative Disorder
Bowel incontinence, Urinary incontinence ORPHA:168782
Uremic Pruritus
Chronic kidney disease, Inflammatory abnormality of the skin, Increased blood urea nitrogen, Recu... ORPHA:94059
Paroxysmal Nocturnal Hemoglobinuria
Impotence, Hemoglobinuria, Asthenia, Glycosuria, Chest pain, Proteinuria, Reduced haptoglobin lev... ORPHA:447
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Nephrotic syndrome, Small for gestational age, Mucopolysacchariduria, Proteinuria, Abnormal T cel... OMIM:215250
Spinocerebellar Ataxia 17
Urinary incontinence OMIM:607136
Meier-Gorlin Syndrome 7
Decreased body weight, Micropenis, Hypospadias, Urethral stricture, Clitoral hypertrophy, Cryptor... OMIM:617063
Exstrophy-Epispadias Complex
Female sexual dysfunction, Abnormality of the ureter, Bifid uterus, Bladder exstrophy, Horseshoe ... ORPHA:322
Glycogen Storage Disease Ixd
Glycogen accumulation in muscle fiber lysosomes, Muscle fiber necrosis, Increased muscle glycogen... OMIM:300559
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Decreased body weight, Vesicoureteral reflux, Arthrogryposis multiplex congenita, Hydronephrosis OMIM:618265
Retinal Venous Beading
Nephritis, Neutropenia OMIM:180080
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Urinary incontinence OMIM:221770
Congenital Disorder Of Glycosylation, Type Iig
Cryptorchidism, Hypospadias, Left ventricular hypertrophy, Camptodactyly, Renal insufficiency, Hy... OMIM:611209
Immunodeficiency 50
Eczema, Recurrent urinary tract infections, Lymphopenia, Neutropenia OMIM:300988
Myoglobinuria, Autosomal Dominant
Elevated circulating creatine kinase concentration, Myoglobinuria, Acute kidney injury, Myalgia OMIM:160010
Fanconi Anemia, Complementation Group O
External genital hypoplasia, Small thenar eminence, Renal cyst, Hydronephrosis, Cryptorchidism, S... OMIM:613390
Lcat Deficiency
Decreased glomerular filtration rate, Decreased circulating apolipoprotein AI concentration, Decr... ORPHA:650
Tbck-Related Intellectual Disability Syndrome
Diastasis recti, Central adrenal insufficiency, Hyperthyroidism, Abnormal circulating lipid conce... ORPHA:488632
Imerslund-Grasbeck Syndrome 2
Megaloblastic anemia, Proteinuria OMIM:618882
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Myalgia, Hypoglycosylation of alpha-dystroglycan, Macroglossia, Proximal muscle weakness in lower... ORPHA:352479
Multicentric Carpotarsal Osteolysis Syndrome
Bilateral renal atrophy, Congenital diaphragmatic hernia, Wrist pain, Ankle pain, Renal insuffici... OMIM:166300
Alport Syndrome
Nephrotic syndrome, Renal glomerular foam cells, Nephritis, Mesangial hypercellularity, Thickenin... ORPHA:63
Posterior Column Ataxia With Retinitis Pigmentosa
Flexion contracture of finger, Joint contracture of the hand, Recurrent urinary tract infections,... OMIM:609033
Dopa-Responsive Dystonia
Pain, Fatigue, Hyperhidrosis, Urinary incontinence ORPHA:255
Spastic Paraplegia 31, Autosomal Dominant
Urinary urgency OMIM:610250
Cryptococcosis
Osteomyelitis, Prostatitis, Peritonitis, Lymphoid leukemia, Chest pain, Limb muscle weakness, Pne... ORPHA:1546
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Infertility, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Abnormality of the urethr... ORPHA:752
Arnold-Chiari Malformation Type Ii
Upper limb muscle weakness, Hand muscle atrophy, Neurogenic bladder, Pneumonia ORPHA:1136
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Dark urine, Glycogen accumulation in muscle fiber lysosomes, Chronic kidney disease, Recurrent my... ORPHA:368
X-Linked Non-Syndromic Intellectual Disability
Obesity, Facial palsy, Small for gestational age, Urinary incontinence ORPHA:777
Huntington Disease-Like 3
Bowel incontinence, Flexion contracture, Urinary incontinence ORPHA:157946
Alport Syndrome 1, X-Linked
Hypoparathyroidism, Nephrotic syndrome, Nephritis, Thickened glomerular basement membrane, Protei... OMIM:301050
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephrotic syndrome, Neutropenia in presence of anti-neutropil antibodies, Coombs-positive hemolyt... OMIM:603909
Malakoplakia
Dysuria, Inflammatory abnormality of the skin, Orchitis, Skin rash, Abdominal pain, Abnormality o... ORPHA:556
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myalgia, Elevated circulating creatine kinase concentration, Myoglobinuria, Acute rhabdomyolysis,... OMIM:268200
8P23.1 Duplication Syndrome
Adrenal insufficiency, Hydronephrosis ORPHA:251076
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Abnormal localization of kidney, Hydronephrosis ORPHA:195
Silver-Russell Syndrome
Abnormal vagina morphology, Precocious puberty, Decreased muscle mass, Abnormality of male extern... ORPHA:813
Paganini-Miozzo Syndrome
Urinary incontinence OMIM:301025
Aa Amyloidosis
Adrenal insufficiency, Chronic kidney disease, Nephrotic syndrome, Abdominal pain, Abnormality of... ORPHA:85445
Galactose Epimerase Deficiency
Weight loss, Aminoaciduria, Splenomegaly ORPHA:79238
Intermediate Uveitis
Tubulointerstitial nephritis, Optic neuritis, Psoriasiform dermatitis, Anterior uveitis ORPHA:279914
Aredyld Syndrome
Cachexia, Abnormality of the ureter, Splenomegaly ORPHA:1133
Cockayne Syndrome
Nephrotic syndrome, Cryptorchidism, Abnormal renal physiology, Unilateral renal agenesis, Splenom... ORPHA:191
Cocaine Intoxication
Colitis, Abdominal pain, Flank pain, Elevated circulating creatine kinase concentration, Hematuri... ORPHA:90068
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydroureter, Hydronephrosis OMIM:618240
Nephrotic Syndrome, Type 22
Nephrotic syndrome, Nephrotic range proteinuria, Hypoproteinemia, Thickened glomerular basement m... OMIM:619155
Chiari Malformation Type I
Neck pain, Limb muscle weakness, Urinary incontinence OMIM:118420
Parkinsonian-Pyramidal Syndrome
Neurogenic bladder, Hypomimic face ORPHA:171695
Cockayne Syndrome Type 3
Flexion contracture, Splenomegaly, Unilateral renal agenesis, Hydroureter, Urinary retention, Ren... ORPHA:90324
Galloway-Mowat Syndrome 5
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Glomerular sclerosis OMIM:617731
Simple Cryoglobulinemia
Nephrotic syndrome, Viral hepatitis, Nephritis, Mesangial hypercellularity, Abdominal pain, Abnor... ORPHA:91139
Phosphoglycerate Kinase 1 Deficiency
Exercise intolerance, Hemolytic anemia, Rhabdomyolysis, Renal insufficiency, Exercise-induced myo... OMIM:300653
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Crohn's disease, Pustule, Myositis, Fatigue, Arthritis, Increased inflammatory response, Proteinu... ORPHA:69126
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Leukocytosis, Aspiration pneumonia, Rigors, Myoglobinuria, Elevated... ORPHA:94093
Fragile X Tremor/Ataxia Syndrome
Myalgia, Impotence, Hypothyroidism, Bowel incontinence, Premature ovarian insufficiency, Urinary ... OMIM:300623
Spinocerebellar Ataxia Type 42
Impotence, Urinary urgency, Psoriasiform dermatitis, Urinary incontinence ORPHA:458803
Pulmonary Blastoma
Weight loss, Chest pain, Recurrent pneumonia ORPHA:64741
Spastic Paraplegia 9A, Autosomal Dominant
Generalized amyotrophy, Urinary urgency, Lower limb muscle weakness, Urinary incontinence OMIM:601162
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
Bowel incontinence, Urinary incontinence OMIM:618868
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Hypophosphatemia, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosi... OMIM:618913
Glycogen Storage Disease Vii
Increased muscle glycogen content, Exercise intolerance, Reduced erythrocyte 2,3-diphosphoglycera... OMIM:232800
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Urinary bladder sphincter dysfunction, Chronic kidney disease, Flexion contracture, Recurrent ski... ORPHA:79408
Galloway-Mowat Syndrome 7
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, Eczema, IgA deposition in... OMIM:618348
Mucopolysaccharidosis-Plus Syndrome
Nephrotic syndrome, Nephritis, Renal tubular atrophy, Splenomegaly, Flexion contracture, Macroglo... OMIM:617303
Primary Hyperoxaluria Type 3
Dysuria, Abnormal renal physiology, Calcium oxalate nephrolithiasis, Hematuria, Hyperoxaluria, Ab... ORPHA:93600
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Failure to thrive, Hyperlipidemia, Abnormality of the kidney, Proteinuria, Postexertional symptom... ORPHA:369
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Leukocytosis, Lymphadenitis, Congenital thrombocyto... OMIM:618886
Oligomeganephronia
Renal tubular atrophy, Decreased glomerular filtration rate, Small for gestational age, Unilatera... ORPHA:2260
Attrv30M Amyloidosis
Weight loss, Impotence, Nephropathy, Abnormal renal physiology ORPHA:85447
Indifference To Pain, Congenital, Autosomal Recessive
Anhidrosis, Hypohidrosis, Urinary incontinence OMIM:243000
Moynahan Syndrome
Cachexia, Hypogonadism ORPHA:2574
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Juvenile Amyotrophic Lateral Sclerosis
Lower-limb joint contracture, Muscle fiber atrophy, Upper-limb joint contracture, Retrocollis, Ca... ORPHA:300605
Amyloidosis, Hereditary, Transthyretin-Related
Impotence, Urinary incontinence OMIM:105210
Free Sialic Acid Storage Disease
Nephrotic syndrome, Splenomegaly, Aplasia/Hypoplasia of the abdominal wall musculature, Proteinur... ORPHA:834
Adult Krabbe Disease
Erectile dysfunction, Upper limb muscle weakness, Lower limb muscle weakness, Urinary incontinence ORPHA:206448
Camptobrachydactyly
Congenital finger flexion contractures, Septate vagina, Urinary incontinence OMIM:114150
Dent Disease
Renal hypophosphatemia, Hyperuricosuria, Glycosuria, Hematuria, Proteinuria, Proximal tubulopathy... ORPHA:1652
Porphyria, Acute Intermittent
Dysuria, Abdominal pain, Elevated urinary delta-aminolevulinic acid, Urinary retention, Urinary i... OMIM:176000
Igg4-Related Aortitis
Elevated circulating C-reactive protein concentration, Abdominal pain, Low back pain, Increased i... ORPHA:449400
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Cockayne Syndrome Type 1
Failure to thrive, Increased blood urea nitrogen, Anemia, Hypohidrosis, Uveitis, Renal insufficie... ORPHA:90321
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Proteinuria, Recurrent otitis media, Cryptorchidism, Multiple bladder diverticula, Small scrotum ORPHA:2728
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia, Decreased hemoglobin concentration, Exercise-induced myalgia, Myoglobinuria, ... ORPHA:713
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abnormality of the extraocular muscles, Abdominal pain, Hypergonadotropic hypogonadism, Hypogonad... ORPHA:298
Vitiligo, Progressive, With Mental Retardation And Urethral Duplication
Distal urethral duplication OMIM:277465
Legionnaires Disease
Myalgia, Pancreatitis, Lymphopenia, Abdominal pain, Splenomegaly, Endocarditis, Hematuria, Myocar... ORPHA:549
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Failure to thrive, Small for gestational age, Hypospadias, Increased serum pyruvate, Hypochromic ... OMIM:619147
Penoscrotal Transposition
Abnormal external genitalia, Renal agenesis, Hypospadias, Abnormality of the ureter, Abnormality ... ORPHA:2842
Spinocerebellar Ataxia Type 19/22
Urinary incontinence ORPHA:98772
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Micropenis, Muscular dystrophy, Elevated circulating creatine kinase concentration, Renal dysplas... OMIM:615287
Cryoglobulinemic Vasculitis
Myalgia, Viral hepatitis, Abdominal pain, Splenomegaly, Hematuria, Arthritis, Gangrene, Renal ins... ORPHA:91138
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia, Nonprogressive muscular atrophy, Distal amyotrophy ORPHA:1216
Genetic Recurrent Myoglobinuria
Dark urine, Recurrent myoglobinuria, Hypocalcemia, Exercise-induced myalgia, Type 2 muscle fiber ... ORPHA:99845
Cystinosis
Renal tubular dysfunction, Failure to thrive, Hypophosphatemia, Hypokalemia, Aminoaciduria, Nephr... ORPHA:213
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Abdominal pain, Cachexia, Ragged-red muscle fibers, Weight loss OMIM:613662
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Abnormality of the diaphragm, Ureteral atresia, Hydronephrosis OMIM:183802
Yao Syndrome
Nephrolithiasis, Myalgia, Inflammatory abnormality of the skin, Skin rash, Abdominal pain, Xerost... OMIM:617321
Charcot-Marie-Tooth Disease Type 1F
Hand muscle weakness, Flexion contracture of finger, Proximal muscle weakness in lower limbs, Wea... ORPHA:101085
Fanconi Renotubular Syndrome 1
Renal tubular dysfunction, Hypophosphatemia, Hypokalemia, Aminoaciduria, Glycosuria, Proteinuria,... OMIM:134600
Congenital Disorder Of Glycosylation, Type Iit
Decreased HDL cholesterol concentration, Decreased serum creatinine, Iron deficiency anemia, Hypo... OMIM:618885
Dyskeratosis Congenita, X-Linked
Blepharitis, Anemia, Hypospadias, Leukopenia, Hyperhidrosis, Pancytopenia, Horseshoe kidney, Uret... OMIM:305000
Coenzyme Q10 Deficiency, Primary, 1
Recurrent myoglobinuria, Nephrotic syndrome, Decreased level of coenzyme Q10 in skeletal muscle, ... OMIM:607426
19Q13.11 Microdeletion Syndrome
Failure to thrive, Bifid scrotum, Hypospadias, Cachexia, Cryptorchidism ORPHA:217346
Opitz Gbbb Syndrome
Cryptorchidism, Micropenis, Hypospadias, Rectourethral fistula, Congenital posterior urethral val... OMIM:300000
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Unilateral renal dysplasia, Chronic kidney disease, Nephrotic syndrome, Proxi... OMIM:146255
Sarcoidosis
Maculopapular exanthema, Chest pain, Uveitis, Weight loss, Nephrolithiasis, Hyperthyroidism, Fati... ORPHA:797
Renal Nutcracker Syndrome
Infertility, Dyspareunia, Dysmenorrhea, Abdominal pain, Vulval varicose vein, Flank pain, Hematur... ORPHA:71273
Intellectual Developmental Disorder, Autosomal Dominant 42
Failure to thrive, Limb hypertonia, Congenital hypothyroidism, Lower limb muscle weakness, Ureter... OMIM:616973
Hypercalcemia, Infantile, 1
Nephrolithiasis, Failure to thrive, Polyuria, Hypercalciuria, Infantile hypercalcemia, Weight los... OMIM:143880
Wieacker-Wolff Syndrome, Female-Restricted
Hip contracture, Flexion contracture, Weakness of facial musculature, Facial palsy, Achilles tend... OMIM:301041
Diffuse Alveolar Hemorrhage
Leukocytosis, Hematuria, Chest pain, Elevated circulating creatinine concentration, Weight loss, ... ORPHA:90060
Xfe Progeroid Syndrome
Failure to thrive, Cachexia, Renal insufficiency, Proteinuria, Hypoalbuminemia, Premature ovarian... OMIM:610965
Spinocerebellar Ataxia 10
Urinary urgency, Urinary incontinence OMIM:603516
Idiopathic Achalasia
Recurrent aspiration pneumonia, Weight loss, Chest pain, Decreased prealbumin level ORPHA:930
Renal Cysts And Diabetes Syndrome
Exocrine pancreatic insufficiency, Glycosuria, Gout, Elevated circulating creatinine concentratio... OMIM:137920
Mitochondrial Membrane Protein-Associated Neurodegeneration
Bowel incontinence, Urinary incontinence ORPHA:289560
Transcobalamin Deficiency