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 Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

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
Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro... OMIM:615112
Posterior Urethral Valve
Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre... ORPHA:93110
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Renal tubular cyst, Glycosuria, Elevated circulating creatinine concentration, ... OMIM:614817
Renal Dysplasia
Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure... ORPHA:93108
Urofacial Syndrome 1
Urethral obstruction, Hydroureter, Recurrent urinary tract infections, Cryptorchidism, Hydronephr... OMIM:236730
Xanthinuria, Type I
Hypouricemia, Pyelonephritis, Xanthine nephrolithiasis, Myopathy, Hydronephrosis, Xanthinuria, Hy... OMIM:278300
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Failure to thrive, Recurrent urinary tract infections, Stage 2 chronic kidney disease, Vesicouret... OMIM:191800
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Elevated circulating acylcarnitine concentration, Red-brown urine, Exercise intolerance, Muscle f... ORPHA:228302
Ochoa Syndrome
Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficie... ORPHA:2704
Renal Failure, Progressive, With Hypertension
Nephritis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal i... OMIM:161900
Igg4-Related Kidney Disease
Chronic kidney disease, Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Urethriti... ORPHA:449395
Adrenomyodystrophy
Abnormality of the urinary system, Failure to thrive, Megacystis, Primary adrenal insufficiency, ... ORPHA:977
Iga Nephropathy, Susceptibility To, 2
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematur... OMIM:613944
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Abnormal urinary electrolyte concentration, Hepatosplenomegaly, Myopathy, Weight los... ORPHA:85450
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... ORPHA:93101
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Nephritis, Unilateral renal atrophy, Pyelonephritis, Cryptorchidism, Torticollis, Oligozoospermia... OMIM:314300
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Hyperuricemia, Renal ... OMIM:603860
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Arthralgia, Arthritis OMIM:216950
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Nephronophthisis 18
Thickened glomerular basement membrane, Nephronophthisis, Stage 5 chronic kidney disease, Tubuloi... OMIM:615862
Spastic Paraplegia 13, Autosomal Dominant
Urinary incontinence, Urinary urgency, Lower limb muscle weakness, Urinary bladder sphincter dysf... OMIM:605280
Spastic Paraplegia 12, Autosomal Dominant
Urinary incontinence, Urinary urgency, Lower limb muscle weakness, Urinary bladder sphincter dysf... OMIM:604805
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Recurrent urinary tract infections, Fetal pyelectasis, Megacystis, Nephrolithiasis OMIM:619365
Lipoprotein Glomerulopathy
Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity OMIM:611771
Spastic Paraplegia 19, Autosomal Dominant
Urinary incontinence, Urinary urgency, Lower limb muscle weakness, 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
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Failure to thrive, Hypernatremia, Polyuria, Megacystis OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Failure to thrive, Hypernatremia, Polyuria, Megacystis OMIM:304800
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Urethral obstruction, Renal hypoplasia, Urinary bladder wall hypertrophy, Autoimmune thrombocytop... OMIM:601389
Nephrotic Syndrome, Type 7
Thickened glomerular basement membrane, Hypoalbuminemia, Acute kidney injury, Stage 5 chronic kid... OMIM:615008
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent otitis media, Pyelonephritis, Renal insufficiency, ... OMIM:610984
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Prolinuria, Hyperprolinemia ORPHA:419
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency
Urinary bladder sphincter dysfunction ORPHA:284282
Microsporidiosis
Lymphadenitis, Urethritis, Abnormality of the spleen, Abnormality of the urinary system physiolog... ORPHA:2552
Endove Syndrome, Limb-Brain Type
Failure to thrive, Recurrent urinary tract infections, Osteomyelitis, Hydronephrosis, Neurogenic ... OMIM:619218
Spastic Paraplegia 36, Autosomal Dominant
Urinary incontinence, Urinary urgency, Lower limb muscle weakness OMIM:613096
Autosomal Dominant Spastic Paraplegia Type 13
Urinary incontinence, Urinary urgency, Lower limb muscle weakness, Urinary bladder sphincter dysf... ORPHA:100994
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Renal hypoplasia, Tubular basement membrane disintegration, E... OMIM:174000
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Podocyte foot process effacement, Proteinuria, Colitis, Impair... OMIM:617006
Spastic Paraplegia 8, Autosomal Dominant
Lower limb muscle weakness, Urinary bladder sphincter dysfunction, Low back pain, Urinary inconti... OMIM:603563
Spastic Paraplegia 37, Autosomal Dominant
Urinary incontinence, Urinary urgency OMIM:611945
Iga Nephropathy, Susceptibility To, 1
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematur... OMIM:161950
Intellectual Developmental Disorder, X-Linked 29
Urinary incontinence, Testicular dysgenesis OMIM:300419
Atresia Of Urethra
Hydroureter, Megacystis, Recurrent urinary tract infections, Bladder fistula, Renal insufficiency... ORPHA:105
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic aciduria, Failure to thrive, Leukopenia, Stage 5 chronic kidney disease, Hyperglyci... OMIM:251000
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Increased variability in muscle fiber diameter, Muscular dystrophy, Keratitis, Urethral stricture... OMIM:226670
Senior-Loken Syndrome 9
Nephronophthisis, Hypogonadism, Obesity, Stage 5 chronic kidney disease, Tubulointerstitial nephr... OMIM:616629
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:614199
Spastic Paraplegia 3, Autosomal Dominant
Lower limb muscle weakness, Urinary bladder sphincter dysfunction, Distal lower limb amyotrophy, ... OMIM:182600
Spastic Paraplegia 6, Autosomal Dominant
Urinary incontinence, Urinary urgency, Lower limb muscle weakness, Urinary bladder sphincter dysf... OMIM:600363
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Abnormal glomerular mesangium morphology, Elevated circulating creatinine co... ORPHA:567544
Spastic Paraplegia 27, Autosomal Recessive
Spastic/hyperactive bladder OMIM:609041
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ... OMIM:602088
Granulomatosis With Polyangiitis
Hematuria, Prostatitis, Arthralgia, Weight loss, Inflammatory abnormality of the eye, Abdominal p... ORPHA:900
Intellectual Developmental Disorder, X-Linked 112
Enuresis nocturna, Enuresis, Dilatation of the renal pelvis, Horseshoe kidney, Pyelonephritis, Ve... OMIM:301111
Glomerulopathy With Fibronectin Deposits 2
Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis... OMIM:601894
Siddiqi Syndrome
Urinary incontinence, Flexion contracture, Lower limb amyotrophy OMIM:618635
Spastic Paraplegia 18A, Autosomal Dominant
Urinary incontinence, Upper limb muscle weakness, Lower limb muscle weakness OMIM:620512
Adult Polyglucosan Body Disease
Urinary incontinence, Neurogenic bladder, Urinary bladder sphincter dysfunction ORPHA:206583
Nephrotic Syndrome, Type 23
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti... OMIM:619201
Autosomal Dominant Spastic Paraplegia Type 73
Distal lower limb muscle weakness, Urinary incontinence, Distal lower limb amyotrophy, Urinary ur... ORPHA:444099
Epidermolysis Bullosa, Junctional 5A, Intermediate
Urethral stenosis OMIM:619816
Spastic Paraplegia, Ataxia, And Impaired Intellectual Development
Urinary incontinence, Urinary urgency, Lower limb muscle weakness, Urinary bladder sphincter dysf... OMIM:607565
Hand-Foot-Genital Syndrome
Uterus didelphys, Bifid scrotum, Pyelonephritis, Renal insufficiency, Ureteropelvic junction obst... OMIM:140000
X-Linked Spastic Paraplegia Type 16
Functional abnormality of the bladder ORPHA:100997
Immunodeficiency, Common Variable, 6
Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor... OMIM:613496
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithi... ORPHA:617
Drug Reaction With Eosinophilia And Systemic Symptoms
Hepatitis, Renal insufficiency, Skin rash, Interstitial pneumonitis, Infectious encephalitis, Pus... ORPHA:139402
Foix-Alajouanine Syndrome
Myelitis, Functional abnormality of the bladder, Urinary retention, Lower limb muscle weakness, M... ORPHA:79093
Autosomal Recessive Spastic Paraplegia Type 48
Urinary incontinence, Elevated circulating creatine kinase concentration, Lower limb muscle weakn... ORPHA:306511
Silver-Russell Syndrome 1
Decreased response to growth hormone stimulation test, Abnormality of the ureter, Nephroblastoma,... OMIM:180860
Spastic Paraplegia 10, Autosomal Dominant
Upper limb muscle weakness, Lower limb muscle weakness, Urinary bladder sphincter dysfunction, Ur... OMIM:604187
Peroxisome Biogenesis Disorder 10B
Nephrocalcinosis, Neurogenic bladder OMIM:617370
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Hypoalbuminemia, Acute kidney injury, Stage 5 chronic kidney disease, Ren... ORPHA:54370
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Red-brown urine, Exercise intolerance, Stage 5 ... ORPHA:157
Autosomal Dominant Spastic Paraplegia Type 36
Urinary incontinence, Urinary urgency, Arthritis ORPHA:320365
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ... OMIM:614376
Glomerulopathy With Fibronectin Deposits 1
Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency... OMIM:137950
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Renal cortical hyperechogenicity, Anuria, Megacystis, Pyelonephritis, Peritonitis, Fetal megacystis OMIM:619351
Lymphatic Filariasis
Urethral obstruction, Lymphadenitis, Hypereosinophilia, Abnormal scrotum morphology, Pain, Orchit... ORPHA:2035
Lead Poisoning
Chronic kidney disease, Imbalanced hemoglobin synthesis, Increased LDL cholesterol concentration,... ORPHA:330015
Wolfram Syndrome 1
Hydroureter, Sideroblastic anemia, Hydronephrosis, Neurogenic bladder, Megaloblastic anemia, Hypo... OMIM:222300
Polyglucosan Body Neuropathy, Adult Form
Urinary incontinence, Neurogenic bladder OMIM:263570
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Failure to thrive, Hyperechogenic kidneys, Hypomagnesemia, Pancytopenia, ... OMIM:613845
Hemangioblastoma
Trigeminal neuralgia, Neurogenic bladder, Upper limb muscle weakness, Lower limb muscle weakness ORPHA:252054
Nephrotic Syndrome, Type 15
Hypoalbuminemia, Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Stage 5... OMIM:617609
Spastic Paraplegia 4, Autosomal Dominant
Lower limb muscle weakness, Urinary bladder sphincter dysfunction, Low back pain, Urinary inconti... OMIM:182601
Spastic Paraplegia 16, X-Linked
Lower limb muscle weakness, Urinary bladder sphincter dysfunction, Facial hypotonia, Lower limb a... OMIM:300266
3-Methylglutaconic Aciduria Type 9
Urinary incontinence, Slender build, Failure to thrive, 3-Methylglutaconic aciduria ORPHA:505216
Nephrotic Syndrome, Type 16
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria OMIM:617783
Igg4-Related Retroperitoneal Fibrosis
Rheumatoid arthritis, Psoriasiform dermatitis, Hematuria, Flank pain, Weight loss, Retrograde eja... ORPHA:49041
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Renal agenesis, Abnormality of the uterus, Horseshoe kidney, Vesico... OMIM:617805
Mitochondrial Complex I Deficiency, Nuclear Type 27
Neurogenic bladder OMIM:618248
Thyrocerebrorenal Syndrome
Abnormality of the musculature of the limbs, Nephritis, Renal insufficiency, Thrombocytopenia ORPHA:3327
2p15-16.1 microdeletion syndrome
Hydronephrosis, Camptodactyly of finger DECIPHER:70
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Obesity, Vesicoureteral reflux, Cryptorchi... OMIM:615926
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Abnormal T cell count, Recurrent urinary tract infections, Recurrent otitis media, Pyo... OMIM:307200
Birk-Landau-Perez Syndrome
Renal hypoplasia, Hyperechogenic kidneys, Stage 3 chronic kidney disease, Failure to thrive in in... OMIM:617595
Majeed Syndrome
Acne, Inflammatory abnormality of the skin, Failure to thrive, Osteomyelitis, Myalgia, Leukocytos... ORPHA:77297
Diencephalic Syndrome
Cachexia, Long penis, Hyperhidrosis, Decreased body weight ORPHA:1672
Prune Belly Syndrome
Multicystic kidney dysplasia, Hydroureter, Failure to thrive, Abnormality of the uterus, Recurren... ORPHA:2970
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Myalgia, Renal insufficiency, Skin rash, Hematuria, Proteinuria, Myositis, Glomerulo... ORPHA:183
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Crusting erythematous dermatitis, ... ORPHA:37042
Combined Oxidative Phosphorylation Deficiency 9
Tubulointerstitial nephritis, Hyperalaninemia, Failure to thrive OMIM:614582
Lower Urinary Tract Obstruction, Congenital
Vesicoureteral reflux, Urinary incontinence, Pollakisuria, Congenital posterior urethral valve, U... OMIM:618612
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... OMIM:616002
Autosomal Dominant Spastic Paraplegia Type 6
Urinary incontinence, Skeletal muscle atrophy ORPHA:100988
Atypical Hemolytic Uremic Syndrome
Acute kidney injury, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocytopenia ORPHA:2134
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Aminoaciduria, Proximal tubulopathy, Failure to thrive, Cachexia, Weight loss OMIM:612075
Focal Segmental Glomerulosclerosis 6
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Proteinuria,... OMIM:614131
Fowler Urethral Sphincter Dysfunction Syndrome
Acne, Abnormality of the urethra, Urinary retention, Abnormality of the ovary, Polycystic ovaries... ORPHA:2795
Hereditary Renal Hypouricemia
Chronic kidney disease, Hypouricemia, Acute kidney injury, Postexertional symptom exacerbation, D... ORPHA:94088
Porphyria Variegata
Chronic kidney disease, Proximal muscle weakness in upper limbs, Chest pain, Increased urinary po... ORPHA:79473
Familial Visceral Myopathy
Hyperparathyroidism, Hydroureter, Megacystis, Camptodactyly of finger, Vesicoureteral reflux, Apl... ORPHA:2604
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... OMIM:613092
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Nephropathy, Nephritis, Decreased glomerular filtration rate, Renal insufficiency, Gout, Hyperuri... OMIM:162000
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Cerebroretinal Microangiopathy With Calcifications And Cysts 3
Urinary incontinence OMIM:620368
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612925
Spastic Paraplegia 76, Autosomal Recessive
Urinary incontinence, Skeletal muscle atrophy, Lower limb muscle weakness OMIM:616907
Nail-Patella-Like Renal Disease
Proteinuria, Microscopic hematuria, Renal insufficiency, Glomerulopathy ORPHA:2613
Pauci-Immune Glomerulonephritis
Acute kidney injury, Arteritis, Elevated circulating creatinine concentration, Decreased glomerul... ORPHA:93126
Preeclampsia/Eclampsia 1
Proteinuria, Thrombocytopenia OMIM:189800
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Interosseus muscle atrophy, Distal lower limb amyotrophy, Distal lower limb muscle weakness, Neur... OMIM:500013
Autosomal Recessive Cutis Laxa Type 1
Recurrent pneumonia, Multiple bladder diverticula, Urethral diverticulum, Recurrent urinary tract... ORPHA:90349
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612926
Lipodystrophy, Partial, Acquired, Susceptibility To
Abnormal circulating lipid concentration, Polycystic ovaries, Proteinuria, Hematuria, Membranopro... OMIM:608709
Multiple Sclerosis, Susceptibility To
Urinary incontinence, Urinary hesitancy OMIM:126200
Congenital Disorder Of Glycosylation, Type Iii
Neurogenic bladder OMIM:613612
Listeriosis
Arteritis, Abscess, Rhabdomyolysis, Pustule, Arthralgia, Abdominal pain, Endocarditis, Acute kidn... ORPHA:533
Glutathionuria
Urinary incontinence, Eczematoid dermatitis, Glutathionuria OMIM:231950
Autosomal Recessive Frontotemporal Pachygyria
Urinary incontinence ORPHA:329329
Adult-Onset Distal Myopathy Due To Vcp Mutation
Rimmed vacuoles, Necrotizing myopathy, Mildly elevated creatine kinase, Myalgia, Facial diplegia,... ORPHA:329478
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Hydronephrosis, Abnormality of the urinary system ORPHA:2669
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:616032
Lysinuric Protein Intolerance
Hemophagocytosis, Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, G... ORPHA:470
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Hematuria, Proteinuria, Tubulointerstitial nephritis OMIM:616901
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 3 ch... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:301028
X-Linked Adrenoleukodystrophy
Leg muscle stiffness, Urinary bladder sphincter dysfunction, Abnormality of adrenal physiology, A... ORPHA:43
Duplication Of Urethra
Clitoral hypertrophy, Urinary bladder wall hypertrophy, Urethral stricture, Chordee, Urinary inco... ORPHA:237
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:618176
Spastic Paraplegia 11, Autosomal Recessive
Skeletal muscle atrophy, Lower limb muscle weakness, Urinary bladder sphincter dysfunction, Obesi... OMIM:604360
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612924
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the urinary system, Hydroureter, Hydronephrosis, Abnormality of the upper urinary ... ORPHA:2838
Spastic Paraplegia 5A, Autosomal Recessive
Abnormal circulating cholesterol concentration, Upper limb muscle weakness, Lower limb muscle wea... OMIM:270800
Spinocerebellar Ataxia 48
Urinary incontinence, Cachexia OMIM:618093
Drug-Induced Lupus Erythematosus
Myalgia, Malar rash, Elevated circulating creatine kinase concentration, Hematuria, Arthralgia, C... ORPHA:231111
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Hyperlipidem... OMIM:600995
Charcot-Marie-Tooth Disease, Type 4B3
Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness, Distal lower lim... OMIM:615284
Spastic Ataxia 3, Autosomal Recessive
Neurogenic bladder, Urinary urgency OMIM:611390
3-Methylglutaconic Aciduria, Type Ix
Urinary incontinence, 3-Methylglutaric aciduria, Failure to thrive, 3-Methylglutaconic aciduria OMIM:617698
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro... OMIM:616818
Hematuria, Benign Familial, 2
Proteinuria, Abnormal glomerular basement membrane morphology, Microscopic hematuria OMIM:620320
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote... OMIM:603965
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydronephrosis, Hydroureter, Megacystis OMIM:619431
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Urinary incontinence, Osteomyelitis, Episodic hyperhidrosis OMIM:613115
Spastic Paraplegia 85, Autosomal Recessive
Urinary incontinence, Generalized amyotrophy, Lower limb muscle weakness, Torticollis OMIM:619686
Visceral Myopathy 1
Urinary retention, Megacystis, Vesicoureteral reflux, Hydronephrosis, Pancreatitis, Abdominal pain OMIM:155310
Autosomal Dominant Spastic Paraplegia Type 8
Peroneal muscle atrophy, Urinary incontinence, Urinary urgency, Lower limb muscle weakness ORPHA:100989
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Increased variability in muscle fiber diameter, Neurogenic bladder, Type 2 muscle fiber predomina... OMIM:619173
Myopathy, Myofibrillar, 7
Enuresis nocturna, Increased variability in muscle fiber diameter, Nemaline bodies, Type 2 muscle... OMIM:617114
Visceral Myopathy 2
Esophagitis, Necrotizing enterocolitis, Megacystis OMIM:619350
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Chronic kidney disease, Failure to thrive in infancy, Decreased glomerular filtration rate, Prote... ORPHA:488627
Autosomal Dominant Spastic Paraplegia Type 12
Male sexual dysfunction, Lower limb muscle weakness, Female sexual dysfunction, Urinary urgency, ... ORPHA:100993
Autosomal Recessive Spastic Paraplegia Type 27
Spastic/hyperactive bladder ORPHA:101007
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Red-brown urine, Dicarboxylic aciduria, Decreas... ORPHA:228308
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Distal lower limb amyotrophy,... OMIM:614455
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Hypoalbuminemia, Steroid-resistant nephrotic syndrome, Stage ... OMIM:615573
Macdermot-Winter Syndrome
Hydronephrosis, Hypoplastic male external genitalia, Camptodactyly of finger OMIM:247990
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hypoalbuminemia, Stage 5 c... OMIM:614196
Spastic Paraplegia 48, Autosomal Recessive
Urinary incontinence, Lower limb muscle weakness OMIM:613647
Leukodystrophy, Progressive, Early Childhood-Onset
Neurogenic bladder, Joint contracture OMIM:617762
Sandhoff Disease, Juvenile Form
Urinary incontinence, Limb joint contracture, Skeletal muscle atrophy, Failure to thrive ORPHA:309162
3-Methylglutaconic Aciduria, Type I
Urinary incontinence, Failure to thrive, 3-Methylglutaconic aciduria OMIM:250950
Autosomal Recessive Spastic Paraplegia Type 77
Detrusor sphincter dyssynergia, Bilateral cryptorchidism, Neurogenic bladder, Urinary incontinenc... ORPHA:466722
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... OMIM:308990
Myh9-Related Disease
Nephropathy, Nephritis, Giant platelets, Renal insufficiency, Proteinuria, Congenital thrombocyto... ORPHA:182050
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal tendon morphology, Decreased testicular size, Infertility, Abnormal sperm head morpholog... ORPHA:320391
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis OMIM:613913
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Neurogenic bladder OMIM:615911
Agammaglobulinemia, X-Linked
Recurrent pneumonia, Bronchiectasis, Recurrent urinary tract infections, Recurrent otitis media, ... OMIM:300755
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Decreased level of coenzyme Q10 in skeletal muscle, Nephrotic syndrome, Hypoalbuminemia OMIM:614652
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Tubulointerstitial nephritis, Camptodactyly, Enuresis, Abnormality of the kidney ORPHA:459061
Recessive Dystrophic Epidermolysis Bullosa Inversa
Abnormality of the urinary system, Vaginal stricture, Urethral stricture, Gastrointestinal inflam... ORPHA:79409
Hinman Syndrome
Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, E... ORPHA:84085
Acquired Partial Lipodystrophy
Myopathy, Proteinuria, Glomerulopathy, Arthralgia, Lymphocytosis, Microscopic hematuria ORPHA:79087
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hypoalbuminemia, Hyperechogenic kidneys, Stage 5 chronic kidn... OMIM:603278
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal... OMIM:611555
Hereditary Xanthinuria
Hypouricemia, Decreased urinary urate, Acute kidney injury, Rheumatoid arthritis, Recurrent urina... ORPHA:3467
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Hypertriglyceridemia, Proteinuria, Decreased HDL cholesterol concentration, ... OMIM:245900
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Hydroureter, Cryptorchidism, Megacystis ORPHA:2241
Amyloidosis, Hereditary Systemic 2
Nephropathy, Renal amyloidosis, Skin rash, Splenomegaly, Proteinuria, Hematuria, Nephrotic syndrome OMIM:105200
Intellectual Developmental Disorder, Autosomal Recessive 70
Urinary incontinence OMIM:618402
X-Linked Intellectual Disability, Schimke Type
Ankle flexion contracture, Elbow flexion contracture, Failure to thrive in infancy, Vesicouretera... ORPHA:85285
C3 Glomerulopathy
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Elevated... ORPHA:329918
Autosomal Dominant Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... ORPHA:169189
Pelizaeus-Merzbacher Disease In Female Carriers
Neurogenic bladder, Abnormality of the lower urinary tract ORPHA:280229
Baralle-Macken Syndrome
Urinary incontinence, Obesity OMIM:619255
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Neurogenic bladder OMIM:619780
Autosomal Dominant Spastic Paraplegia Type 4
Urinary urgency, Urinary bladder sphincter dysfunction ORPHA:100985
Autoinflammatory-Pancytopenia Syndrome
Granuloma, Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Pancytopenia, Chilblains, Int... OMIM:619858
Amyotrophic Lateral Sclerosis 5, Juvenile
Urinary incontinence, Distal amyotrophy OMIM:602099
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Focal segmental glomerulosclerosis, Proteinuria, Hematuria, Renal insufficiency OMIM:607832
Autosomal Recessive Spastic Paraplegia Type 78
Neurogenic bladder, Facial myokymia ORPHA:513436
Scalp-Ear-Nipple Syndrome
Duplication of renal pelvis, Recurrent urinary tract infections, Pyelonephritis, Hypohidrosis, Ab... ORPHA:2036
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Microscopic hema... OMIM:613237
Image Syndrome
Hydronephrosis, Hypospadias, Cryptorchidism, Hypogonadism ORPHA:85173
Glycogen Storage Disease X
Exercise intolerance, Renal insufficiency, Rhabdomyolysis, Myopathy, Elevated circulating creatin... OMIM:261670
Tubulointerstitial Nephritis And Uveitis Syndrome
Scleritis, Flank pain, Arthralgia, Weight loss, Tubulointerstitial nephritis, Abdominal pain, Ele... ORPHA:91500
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Hyperphosphatemia, Decreased body weight, Hematuria, Glomerulonephritis, ... ORPHA:340
Hardikar Syndrome
Hypoplasia of the bladder, Hydroureter, Failure to thrive, Recurrent urinary tract infections, Py... OMIM:301068
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Urinary incontinence, Distal amyotrophy ORPHA:352641
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... OMIM:618270
Spastic Paraplegia 46, Autosomal Recessive
Urinary incontinence, Infertility, Limb muscle weakness, Lower limb muscle weakness OMIM:614409
Lymphatic Malformation 1
Urethral stricture, Hydrocele testis OMIM:153100
Maternal Uniparental Disomy Of Chromosome 4
Limb-girdle muscular dystrophy, Hypocholesterolemia, Abnormal erythrocyte morphology, Acanthocyto... ORPHA:96180
22Q11.2 Duplication Syndrome
Hydronephrosis, Urethral stenosis, Displacement of the urethral meatus ORPHA:1727
Paternal Uniparental Disomy Of Chromosome 1
Anhidrosis, Obesity, Proteinuria, Episodic hemolytic anemia, Increased blood urea nitrogen, Membr... ORPHA:251004
Spastic Paraplegia 83, Autosomal Recessive
Urinary urgency OMIM:619027
Sjogren Syndrome
Tubulointerstitial nephritis, Rheumatoid arthritis, Xerostomia, Keratoconjunctivitis sicca OMIM:270150
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Microangiopathic hemolytic anemia, Renal insufficiency, Reticulocytosis, Hem... ORPHA:54057
Amyotrophic Dystonic Paraplegia
Urinary incontinence, Skeletal muscle atrophy, Bowel incontinence OMIM:105300
Spastic Paraplegia 7, Autosomal Recessive
Upper limb muscle weakness, Upper limb hypertonia, Lower limb muscle weakness, Urinary bladder sp... OMIM:607259
Brain-Lung-Thyroid Syndrome
Recurrent pneumonia, Failure to thrive, Megacystis, Congenital hypothyroidism, Vesicoureteral ref... ORPHA:209905
Fibronectin Glomerulopathy
Hypoalbuminemia, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Glom... ORPHA:84090
Alkaptonuria
Aminoaciduria, Elevated urinary homogentisic acid, Dark urine, Thickened Achilles tendon, Nephrol... ORPHA:56
Basal Ganglia Calcification, Idiopathic, 1
Urinary incontinence, Abnormal circulating calcium concentration OMIM:213600
Systemic Lupus Erythematosus
Nephritis, Leukopenia, Malar rash, Lupus nephritis, Arthritis, Thrombocytopenia, Hemolytic anemia... OMIM:152700
Prune Belly Syndrome
Xerostomia, Hydroureter, Cryptorchidism, Hydronephrosis, Aplasia of the abdominal wall musculatur... OMIM:100100
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Renal insufficiency, Ureteropelvic junctio... OMIM:143400
Lymphedema-Distichiasis Syndrome
Recurrent urinary tract infections, Renal duplication, Proteinuria, Glomerulopathy, Tubulointerst... ORPHA:33001
Cog5-Cdg
Joint contracture of the hand, Camptodactyly of finger, Hepatosplenomegaly, Cryptorchidism, Neuro... ORPHA:263487
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Distal amyotrophy, Foot dorsiflexor weakness, Intrinsic hand muscle atrophy, Urinary incontinence... OMIM:616688
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Neurogenic bladder, Multiple joint contractures ORPHA:466934
Unilateral Focal Polymicrogyria
Urinary incontinence ORPHA:268947
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... OMIM:310468
Glycogen Storage Disease Xi
Exercise intolerance, Myalgia, Renal insufficiency, Rhabdomyolysis, Elevated circulating creatine... OMIM:612933
Trisomy 17P
Skeletal muscle atrophy, Hydronephrosis, Macroglossia, Flexion contracture, Urethral valve, Polyc... ORPHA:261290
Wolfram Syndrome 2
Neurogenic bladder, Oligomenorrhea, Primary amenorrhea OMIM:604928
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Urinary incontinence OMIM:620094
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Distal amyotrophy, Denervation of the diaphragm, Failure to thrive, Camptodactyly of finger, Limb... OMIM:604320
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Glomerular bas... OMIM:609057
Thyrocerebroretinal Syndrome
Nephritis, Skeletal muscle atrophy, Thrombocytopenia OMIM:274240
Alport Syndrome 3B, Autosomal Recessive
Thin glomerular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency, Proteinur... OMIM:620536
Alport Syndrome 3A, Autosomal Dominant
Thickened glomerular basement membrane, Nephritis, Nephrocalcinosis, Glomerular basement membrane... OMIM:104200
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Urinary incontinence, Urinary urgency OMIM:612319
Spastic Paralysis, Infantile-Onset Ascending
Urinary incontinence, Achilles tendon contracture OMIM:607225
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Neurogenic bladder ORPHA:572013
Galloway-Mowat Syndrome 8
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Hematuria, P... OMIM:618349
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia, Urinary hesitancy, Nocturia, Urinary incontinence, Urinary urgency OMIM:609727
Hydrocephalus, Normal-Pressure, 1
Urinary incontinence, Bowel incontinence OMIM:236690
Neuronal Intranuclear Inclusion Disease
Urinary incontinence OMIM:603472
Adenine Phosphoribosyltransferase Deficiency
Chronic kidney disease, Acute kidney injury, Oliguria, Abdominal colic, Urinary retention, Recurr... ORPHA:976
Adrenoleukodystrophy
Lower limb muscle weakness, Urinary bladder sphincter dysfunction, Hypogonadism, Primary adrenal ... OMIM:300100
Spastic Paraplegia 72A, Autosomal Dominant
Urinary bladder sphincter dysfunction OMIM:615625
Cholestasis, Progressive Familial Intrahepatic, 12
Hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration, Proteinuria, Conjugate... OMIM:620010
Anti-Glomerular Basement Membrane Disease
Chest pain, Myalgia, Renal insufficiency, Proteinuria, Hematuria, Glomerulopathy, Arthralgia, Art... ORPHA:375
Junctional Epidermolysis Bullosa With Pyloric Atresia
Ureterocele, Urinary bladder inflammation, Aplasia of the bladder, Renal duplication, Hematuria, ... ORPHA:79403
Spinocerebellar Ataxia 42
Urinary incontinence, Urinary urgency OMIM:616795
Preeclampsia
Chronic kidney disease, Acute kidney injury, Elevated circulating creatinine concentration, Epiga... ORPHA:275555
Reni Syndrome
Focal segmental glomerulosclerosis, Hypoalbuminemia, Steroid-resistant nephrotic syndrome, Hypogo... OMIM:617575
Leukodystrophy, Hypomyelinating, 12
Flexion contracture, Neurogenic bladder OMIM:616683
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Duplicated collecting system, Blepharitis, Hydroureter, Ureterocele, Megacystis, Renal agenesis, ... OMIM:604292
Isolated Epispadias
Vesicoureteral reflux, Anteriorly displaced urethral meatus, Bifid clitoris, Urinary incontinence... ORPHA:93928
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Skeletal muscle atrophy, Dicarboxylic aciduria, Hyperammo... ORPHA:42
Patent Urachus
Recurrent urinary tract infections, Cystocele, Pelvic pain, Abdominal pain, Patent urachus, Conge... ORPHA:431341
Familial Mediterranean Fever, Autosomal Dominant
Renal amyloidosis, Erysipelas, Chest pain, Renal insufficiency, Proteinuria, Peritonitis, Arthral... OMIM:134610
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Urinary incontinence OMIM:249900
Spastic Paraplegia 15, Autosomal Recessive
Distal amyotrophy, Lower limb muscle weakness, Urinary bladder sphincter dysfunction, Urinary inc... OMIM:270700
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Glomerulonephritis OMIM:247800
Melioidosis
Pneumonia, Brain abscess, Foot osteomyelitis, Cutaneous abscess, Hepatitis, Parotitis, Abnormalit... ORPHA:31202
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Abnormal renal physiology, Elevated circulating creatinine con... OMIM:274150
Megabladder, Congenital
Fetal megacystis, Stage 5 chronic kidney disease, Multiple glomerular cysts, Hyperechogenic kidneys OMIM:618719
Syringomyelia, Noncommunicating Isolated
Urinary incontinence, Neck pain, Limb muscle weakness OMIM:186700
Hereditary Motor And Sensory Neuropathy, Type Iic
Shoulder girdle muscle atrophy, Proximal muscle weakness in upper limbs, Distal lower limb amyotr... OMIM:606071
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Aminoaciduria, Skeletal muscle atrophy, Methylmalonic aciduria, Elevated circulating creatine kin... ORPHA:1933
Multicentric Reticulohistiocytosis
Cachexia, Histiocytosis, Arthritis ORPHA:139436
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Urinary incontinence, Hypergonadotropic hypogonadism OMIM:617145
Alport Syndrome 2, Autosomal Recessive
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag... OMIM:203780
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Neurogenic bladder OMIM:617669
Autosomal Spastic Paraplegia Type 72
Urinary bladder sphincter dysfunction ORPHA:401849
Gitelman Syndrome
Rhabdomyolysis, Arthralgia, Urinary incontinence, Abdominal pain, Tubulointerstitial nephritis, R... ORPHA:358
Pure Autonomic Failure
Dysuria, Constitutional symptom, Anhidrosis, Urinary incontinence, Impotence ORPHA:441
46,Xy Sex Reversal 4
Gonadal dysgenesis, Recurrent otitis media, Elevated circulating creatinine concentration, Ureter... OMIM:154230
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Hypoa... ORPHA:567548
Orofaciodigital Syndrome Xviii
Urinary incontinence OMIM:617927
Bardet-Biedl Syndrome 19
Renal hypoplasia, Hypogonadism, External genital hypoplasia, Obesity, Renal insufficiency, Hydron... OMIM:615996
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hyperparathyroidism, Renal insufficiency, Proteinuria, Glomerulopathy, Anemia, Hypercalcemia ORPHA:2668
Galactosemia I
Aminoaciduria, Galactosuria, Increased level of galactitol in red blood cells, Failure to thrive,... OMIM:230400
Congenital Disorder Of Glycosylation, Type Iie
Skeletal muscle atrophy, Failure to thrive, Splenomegaly, Elevated circulating creatine kinase co... OMIM:608779
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Recurrent pneumonia, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration,... ORPHA:496641
Igg4-Related Submandibular Gland Disease
Xerostomia, Renal insufficiency, Prostatitis, Eosinophilia, Abnormality of the kidney, Cholangitis ORPHA:449432
Currarino Syndrome
Recurrent urinary tract infections, Horseshoe kidney, Septate vagina, Vesicoureteral reflux, Peri... OMIM:176450
Nephronophthisis 3
Nephronophthisis, Failure to thrive, Stage 5 chronic kidney disease, Renal insufficiency, Protein... OMIM:604387
Interstitial Cystitis
Functional abnormality of the bladder, Abnormality of the urethra, Urinary bladder inflammation, ... ORPHA:37202
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Urinary incontinence, Distal amyotrophy, Impotence, Foot dorsiflexor weakness ORPHA:98
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Weight loss, Anemia ORPHA:100024
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria, Cachexia, Camptodactyly of finger ORPHA:2774
Pediatric Systemic Lupus Erythematosus
Discoid lupus rash, Nephritis, Abnormality of the urinary system, Microangiopathic hemolytic anem... ORPHA:93552
Orthostatic Hypotension 1
Hypomagnesemia, Weakness of facial musculature, Retrograde ejaculation, Increased blood urea nitr... OMIM:223360
Machado-Joseph Disease Type 1
Neurogenic bladder, Distal lower limb amyotrophy, Skeletal muscle atrophy ORPHA:276238
Machado-Joseph Disease Type 2
Neurogenic bladder, Distal lower limb amyotrophy, Skeletal muscle atrophy ORPHA:276241
Coenzyme Q10 Deficiency, Primary, 6
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:614650
Alstrom Syndrome
Irregular menstruation, Nephritis, Recurrent pneumonia, Decreased HDL cholesterol concentration, ... OMIM:203800
Heme Oxygenase 1 Deficiency
Nephritis, Increased circulating ferritin concentration, Hematuria, Proteinuria, Coombs-positive ... OMIM:614034
Cednik Syndrome
Proteinuria, Nephrotic syndrome, Hypogonadism ORPHA:66631
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Proteinuria,... OMIM:610725
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Failure... ORPHA:97362
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Neurogenic bladder, Xerostomia OMIM:618527
Hypouricemia, Renal, 1
Hypouricemia, Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Elevated circulati... OMIM:220150
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w... ORPHA:206549
Dyskeratosis Congenita, Autosomal Dominant 3
Aplastic anemia, Pancytopenia, Leukopenia, Cryptorchidism, Macrocytic anemia, Urethral stricture,... OMIM:613990
Dent Disease 2
Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig... OMIM:300555
Distal 16P11.2 Microdeletion Syndrome
Chronic kidney disease, Renal agenesis, Obesity, Vesicoureteral reflux, Hyperuricemia, Proteinuri... ORPHA:261222
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Small for gestational age, Congenital nephrotic syndrome, Renal insufficiency, H... OMIM:256300
Galloway-Mowat Syndrome 2, X-Linked
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:301006
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Urinary incontinence OMIM:600795
Autosomal Recessive Spastic Paraplegia Type 76
Functional abnormality of the bladder ORPHA:488594
Childhood Disintegrative Disorder
Urinary incontinence, Bowel incontinence ORPHA:168782
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, Hy... ORPHA:656
Macs Syndrome
Recurrent aphthous stomatitis, Cryptorchidism, Decreased body weight, Fatigue, Bronchiectasis, Hy... OMIM:613075
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Urinary incontinence, Obesity ORPHA:464282
Denys-Drash Syndrome
Nephropathy, Gonadal dysgenesis, Nephroblastoma, Proteinuria, Male pseudohermaphroditism, Nephrot... ORPHA:220
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephropathy, Cryptorchidism, Proteinuria, Anemia, Nephrotic syndrome ORPHA:1192
Proteinuria, Chronic Benign
Proteinuria, Albuminuria, Renal insufficiency OMIM:618884
Dopamine Beta-Hydroxylase Deficiency
Elevated urinary dopamine level, Chest pain, Elevated circulating creatinine concentration, Fatig... ORPHA:230
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Myalgia, Renal insufficiency, Rhabdomyolysis OMIM:255110
Congenital Nephrotic Syndrome, Finnish Type
Proteinuria, Nephrotic syndrome, Elevated amniotic fluid alpha-fetoprotein, Abnormal renal tubule... ORPHA:839
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Neurogenic bladder ORPHA:500144
Frasier Syndrome
Focal segmental glomerulosclerosis, Ovarian gonadoblastoma, Gonadal dysgenesis, Stage 5 chronic k... OMIM:136680
Glycogen Storage Disease V
Exercise intolerance, Dark urine, Exercise-induced rhabdomyolysis, Rhabdomyolysis, Hyperuricemia,... OMIM:232600
Wolfram Syndrome, Mitochondrial Form
Hydroureter, Sideroblastic anemia, Hydronephrosis, Megaloblastic anemia, Thrombocytopenia, Neutro... OMIM:598500
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Urethrovesical occlusion, Arthrogryposis multiplex congenita OMIM:226730
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Recurrent pneumonia, Failure to thrive in infancy, Urethral stricture, Hypohidrosis, Colitis, Bro... OMIM:301220
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:235400
Galloway-Mowat Syndrome 6
Focal segmental glomerulosclerosis, Hypoalbuminemia, Decreased response to growth hormone stimula... OMIM:618347
Nephrotic Syndrome, Type 11
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hypoalbuminemia, IgA depos... OMIM:616730
Machado-Joseph Disease Type 3
Neurogenic bladder, Distal lower limb amyotrophy, Skeletal muscle atrophy ORPHA:276244
Huntington Disease-Like 3
Urinary incontinence, Flexion contracture, Bowel incontinence OMIM:604802
Primary Sjögren Syndrome
Arteritis, Xerostomia, Chronic pain, Lymphopenia, Chronic hepatitis, Decreased proportion of CD4-... ORPHA:289390
Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Glycogen Storage Disease Due To Aldolase A Deficiency
Acute kidney injury, Decreased muscle mass, Muscle fiber atrophy, Myalgia, Exercise-induced rhabd... ORPHA:57
Adrenomyeloneuropathy
Leg muscle stiffness, Urinary retention, Urinary bladder sphincter dysfunction, Male sexual dysfu... ORPHA:139399
Peroxisome Biogenesis Disorder 14B
Urinary incontinence, Hydrocele testis OMIM:614920
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myalgia, Renal insufficiency, Rhabdomyolysis, Elevated circulating creatine kinase concentration,... ORPHA:2364
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Nephropathy, Aminoaciduria, Nephrocalcinosis, Giant cell hepatitis, Glycosuria, Failure to thrive... OMIM:613404
Dyskeratosis Congenita, Autosomal Dominant 2
Aplastic anemia, Failure to thrive, Pancytopenia, Leukopenia, Urethral stricture, Neutropenia, Th... OMIM:613989
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Stage 5 chronic kidney disease, Glomerular subepithelial immu... OMIM:614377
Autosomal Dominant Cutis Laxa
Unilateral renal agenesis, Pyelonephritis, Bronchiectasis, Bladder diverticulum ORPHA:90348
Frasier Syndrome
Focal segmental glomerulosclerosis, Streak ovary, Renal insufficiency, Nephroblastoma, Proteinuri... ORPHA:347
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... ORPHA:227990
Imerslund-Grasbeck Syndrome 1
Proteinuria, Microscopic hematuria, Megaloblastic anemia OMIM:261100
Renpenning Syndrome
Decreased testicular size, Cachexia, Hypospadias, Skeletal muscle atrophy ORPHA:3242
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... ORPHA:227982
Paganini-Miozzo Syndrome
Urinary incontinence, Hyperalaninemia OMIM:301025
Congenital Myopathy 19
Congenital contracture, Skeletal muscle atrophy, Renal atrophy, Cryptorchidism, Hydronephrosis, F... OMIM:618578
Igg4-Related Ophthalmic Disease
Keratitis, Trigeminal neuralgia, Abnormality of the extraocular muscles, Orchitis, Prostatitis, E... ORPHA:449563
Immunodeficiency 50
Lymphopenia, Eczematoid dermatitis, Neutropenia, Recurrent urinary tract infections OMIM:300988
Combined Oxidative Phosphorylation Deficiency 34
Failure to thrive, Elevated circulating creatinine concentration, Pancytopenia, Primary adrenal i... OMIM:617872
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Skeletal muscle... ORPHA:352479
Lcat Deficiency
Acute kidney injury, Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal ... ORPHA:650
Spastic Paraplegia 44, Autosomal Recessive
Urinary incontinence OMIM:613206
Spinocerebellar Ataxia 17
Urinary incontinence OMIM:607136
Spastic Paraplegia 9B, Autosomal Recessive
Urinary incontinence, Foot dorsiflexor weakness, Skeletal muscle atrophy, Urinary retention OMIM:616586
Uremic Pruritus
Chronic kidney disease, Renal hypophosphatemia, Hypermagnesemia, Inflammatory abnormality of the ... ORPHA:94059
Alport Syndrome
Focal segmental glomerulosclerosis, Nephritis, Thickened glomerular basement membrane, Glomerular... ORPHA:63
Acute Intermittent Porphyria
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Urinary retenti... ORPHA:79276
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephritis, Malar rash, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-nega... OMIM:603909
Myoglobinuria, Autosomal Dominant
Myalgia, Acute kidney injury, Myoglobinuria, Elevated circulating creatine kinase concentration OMIM:160010
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Failure to thrive, Medullary nephrocalcinosis, Nephrolithiasis, Hypercalciuria,... OMIM:143880
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Proteinuria, Mucopolysacchariduria, Abnormal T cell morphology, Nephrotic syndrome, Small for ges... OMIM:215250
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Pancytopenia, Reduced haptoglobin level, Hemosiderinuria, Unconjugated hy... ORPHA:447
Neural Tube Defects, Susceptibility To
Urinary incontinence OMIM:182940
Glycogen Storage Disease Ixd
Exercise intolerance, Distal amyotrophy, Skeletal muscle atrophy, Quadriceps muscle weakness, Low... OMIM:300559
Galloway-Mowat Syndrome 5
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 5 ch... OMIM:617731
Scalp-Ear-Nipple Syndrome
Unilateral renal agenesis, Renal hypoplasia, Pyelonephritis, Renal insufficiency, Hypohidrosis OMIM:181270
Spastic Paraplegia 31, Autosomal Dominant
Urinary urgency OMIM:610250
Alport Syndrome 1, X-Linked
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag... OMIM:301050
Huntington Disease-Like 3
Urinary incontinence, Flexion contracture, Bowel incontinence ORPHA:157946
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Abnormality of the urethra, Cryptorchidism, Hypogonadotropic hypogonadism, Male pseudohermaphrodi... ORPHA:752
Tbck-Related Intellectual Disability Syndrome
Skeletal muscle atrophy, Eczematoid dermatitis, Abnormal circulating lipid concentration, Decreas... ORPHA:488632
Malakoplakia
Inflammatory abnormality of the skin, Urinary bladder inflammation, Abnormality of the menstrual ... ORPHA:556
Neuropathy, Hereditary Sensory And Autonomic, Type V
Septic arthritis, Osteomyelitis, Low back pain, Osteoarthritis, Anhidrosis, Urinary incontinence OMIM:608654
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Chronic kidney disease, Acute kidney injury, Exercise intolerance, Skeletal muscle atrophy, Poste... ORPHA:368
Posterior Column Ataxia With Retinitis Pigmentosa
Joint contracture of the hand, Skeletal muscle atrophy, Recurrent urinary tract infections, Flexi... OMIM:609033
Multicentric Carpotarsal Osteolysis Syndrome
Bilateral renal atrophy, Ankle pain, Stage 5 chronic kidney disease, Renal insufficiency, Congeni... OMIM:166300
8P23.1 Duplication Syndrome
Hydronephrosis, Adrenal insufficiency ORPHA:251076
Intermediate Uveitis
Tubulointerstitial nephritis, Optic neuritis, Psoriasiform dermatitis, Anterior uveitis ORPHA:279914
Spastic Paraplegia 54, Autosomal Recessive
Lower limb muscle weakness, Distal lower limb muscle weakness, Hypomimic face, Urinary incontinen... OMIM:615033
Aa Amyloidosis
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Adrenal insufficienc... ORPHA:85445
Hermansky-Pudlak Syndrome 6
Recurrent urinary tract infections, Perineal fistula, Endometriosis, Neurogenic bladder, Absent p... OMIM:614075
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Urinary incontinence OMIM:221770
Galactose Epimerase Deficiency
Aminoaciduria, Weight loss, Splenomegaly ORPHA:79238
Nephrotic Syndrome, Type 22
Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff... OMIM:619155
Cat-Eye Syndrome
Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia ORPHA:195
Aredyld Syndrome
Abnormality of the ureter, Cachexia, Splenomegaly ORPHA:1133
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad... OMIM:614527
Mckusick-Kaufman Syndrome
Multicystic kidney dysplasia, Failure to thrive, Hydrometrocolpos, Glandular hypospadias, Cryptor... ORPHA:2473
Porphyria, Acute Intermittent
Urinary retention, Abdominal pain, Reduced erythrocyte porphobilinogen deaminase activity, Urinar... OMIM:176000
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Acute kidney injury, Myalgia, Elevated circulating creatine kinase concentration, Myoglobinuria, ... OMIM:268200
Sandhoff Disease
Skeletal muscle atrophy, Increased urinary N-acetylglucosamine-rich oligosaccharide level, Hepato... OMIM:268800
Severe Generalized Junctional Epidermolysis Bullosa
Multicystic kidney dysplasia, Ureterocele, Urethral stricture, Duplicated collecting system, Abno... ORPHA:79404
Nephrotic Syndrome, Type 8
Chronic kidney disease, Hypoalbuminemia, Thin glomerular basement membrane, Stage 5 chronic kidne... OMIM:615244
Glycogen Storage Disease Vii
Increased variability in muscle fiber diameter, Exercise intolerance, Increased total bilirubin, ... OMIM:232800
Fragile X Tremor/Ataxia Syndrome
Myalgia, Hypothyroidism, Urinary incontinence, Premature ovarian insufficiency, Impotence, Bowel ... OMIM:300623
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Hyperleucinemia, Hyperammonemia, Decreased body weight, Hypervalinemia, Increa... OMIM:620085
Fanconi Anemia, Complementation Group O
External genital hypoplasia, Stage 5 chronic kidney disease, Cryptorchidism, Hydronephrosis, Rena... OMIM:613390
Aids Wasting Syndrome
Cachexia, Weight loss, Skeletal muscle atrophy ORPHA:90081
Chiari Malformation Type I
Urinary incontinence, Neck pain, Limb muscle weakness OMIM:118420
Pulmonary Blastoma
Chest pain, Recurrent pneumonia, Weight loss ORPHA:64741
Cockayne Syndrome
Unilateral renal agenesis, Renal hypoplasia, Congenital contracture, Skeletal muscle atrophy, Con... ORPHA:191
Exstrophy-Epispadias Complex
Abnormality of the ureter, Cryptorchidism, Abnormality of the kidney, Urinary incontinence, Renal... ORPHA:322
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Urinary urgency OMIM:618878
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
Urinary incontinence, Bowel incontinence OMIM:618868
Neuroleptic Malignant Syndrome
Acute kidney injury, Hyperphosphatemia, Aspiration pneumonia, Hypomagnesemia, Leukocytosis, Hypoc... ORPHA:94093
Phosphoglycerate Kinase 1 Deficiency
Exercise intolerance, Exercise-induced myoglobinuria, Erythroid hyperplasia, Renal insufficiency,... OMIM:300653
Spinocerebellar Ataxia Type 42
Urinary incontinence, Psoriasiform dermatitis, Impotence, Urinary urgency ORPHA:458803
Parkinsonian-Pyramidal Syndrome
Neurogenic bladder, Hypomimic face ORPHA:171695
Cryptococcosis
Pneumonia, Chest pain, Osteomyelitis, Limb muscle weakness, Peritonitis, Prostatitis, Lymphoid le... ORPHA:1546
Cocaine Intoxication
Acute kidney injury, Chest pain, Rhabdomyolysis, Elevated circulating creatine kinase concentrati... ORPHA:90068
Attrv30M Amyloidosis
Nephropathy, Weight loss, Impotence, Abnormal renal physiology ORPHA:85447
Lateral Meningocele Syndrome
Neurogenic bladder, Cryptorchidism, Decreased muscle mass OMIM:130720
Diffuse Alveolar Hemorrhage
Chest pain, Elevated circulating creatinine concentration, Leukocytosis, Hematuria, Proteinuria, ... ORPHA:90060
Papa Syndrome
Crohn's disease, Proteinuria, Increased inflammatory response, Myositis, Arthralgia, Fatigue, Pus... ORPHA:69126
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Hyperechogenic kidneys, Lymphopenia, Leukopenia, Elevated circulating creatinine concentration, R... OMIM:301110
Spondylocostal Dysostosis 4, Autosomal Recessive
Neurogenic bladder OMIM:613686
Silver-Russell Syndrome
Precocious puberty, Abnormal male external genitalia morphology, Abnormality of the urinary syste... ORPHA:813
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620138
Cockayne Syndrome Type 3
Unilateral renal agenesis, Renal hypoplasia, Hydroureter, Urinary retention, Skeletal muscle atro... ORPHA:90324
Bardet-Biedl Syndrome
Chronic kidney disease, Inflammation of the large intestine, Hydrometrocolpos, Cryptorchidism, Po... ORPHA:110
Galloway-Mowat Syndrome 7
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom... OMIM:618348
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Failure to thrive, Postexertional symptom exacerbation, Hyperlipidemia, Proteinuria, Abnormality ... ORPHA:369
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia, Renal insufficiency, Reticulocytosis, Rhabdomyolysis, Myopathy, Decreased hem... ORPHA:713
Congenital Disorder Of Glycosylation, Type Iit
Hypotriglyceridemia, Decreased serum creatinine, Iron deficiency anemia, Decreased HDL cholestero... OMIM:618885
Adult-Onset Still Disease
Arthralgia, Weight loss, Neutrophilia, Elevated circulating C-reactive protein concentration, Abd... ORPHA:829
Camptobrachydactyly
Urinary incontinence, Septate vagina, Congenital finger flexion contractures OMIM:114150
Juvenile Amyotrophic Lateral Sclerosis
Upper-limb joint contracture, Distal amyotrophy, Skeletal muscle atrophy, Muscle fiber atrophy, R... ORPHA:300605
Igg4-Related Aortitis
Hypereosinophilia, Hydronephrosis, Increased inflammatory response, Low back pain, Weight loss, E... ORPHA:449400
Primary Hyperoxaluria Type 3
Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo... ORPHA:93600
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemic rickets, Proteinuria,... OMIM:618913
Free Sialic Acid Storage Disease
Failure to thrive in infancy, Splenomegaly, Proteinuria, Aplasia/Hypoplasia of the abdominal wall... ORPHA:834
Pseudo-Torch Syndrome 3
Acute kidney injury, Lymphadenitis, Increased circulating ferritin concentration, Leukocytosis, P... OMIM:618886
Simple Cryoglobulinemia
Nephritis, Viral hepatitis, Renal insufficiency, Mesangial hypercellularity, Proteinuria, Chronic... ORPHA:91139
Vesicoureteral Reflux 3
Hydroureter, Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Grade III vesico... OMIM:613674
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Nephritis, Macroglossia, Recurrent pneumonia, Hypoalbuminemia... OMIM:617303
Indifference To Pain, Congenital, Autosomal Recessive
Urinary incontinence, Hypohidrosis, Anhidrosis OMIM:243000
Dent Disease
Renal phosphate wasting, Chronic kidney disease, Renal hypophosphatemia, Hematuria, Tubulointerst... ORPHA:1652
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Legionnaires Disease
Hepatitis, Chest pain, Lymphopenia, Myalgia, Renal insufficiency, Splenomegaly, Infectious enceph... ORPHA:549
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas... ORPHA:2260
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Elevated circulating creatinine concentration, Proteinuria, Hematuria, Ab... OMIM:123550
Adult Krabbe Disease
Urinary incontinence, Erectile dysfunction, Upper limb muscle weakness, Lower limb muscle weakness ORPHA:206448
Cockayne Syndrome Type 1
Male hypogonadism, Foot joint contracture, Failure to thrive, Renal insufficiency, Cryptorchidism... ORPHA:90321
Genetic Recurrent Myoglobinuria
Proximal muscle weakness in upper limbs, Acute kidney injury, Oliguria, Hyperphosphatemia, Lower ... ORPHA:99845
Williams-Beuren Region Duplication Syndrome
Unilateral renal agenesis, Small for gestational age, Failure to thrive, Decreased response to gr... OMIM:609757
Spinocerebellar Ataxia Type 19/22
Urinary incontinence ORPHA:98772
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Ragged-red muscle fibers, Cachexia, Weight loss, Abdominal pain OMIM:613662
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc... OMIM:615605
Intellectual Developmental Disorder, Autosomal Dominant 42
Failure to thrive, Lower limb muscle weakness, Congenital hypothyroidism, Ureteropelvic junction ... OMIM:616973
Cryoglobulinemic Vasculitis
Myalgia, Renal insufficiency, Splenomegaly, Hematuria, Proteinuria, Glomerulopathy, Arthralgia, G... ORPHA:91138
Central Diabetes Insipidus
Hyponatremia, Weight loss, Failure to thrive, Nocturia ORPHA:178029
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Chronic kidney disease, Renal amyloidosis, Foot joint contracture, IgA deposition in the glomerul... ORPHA:79408
Xfe Progeroid Syndrome
Hypoalbuminemia, Failure to thrive, Renal insufficiency, Proteinuria, Cachexia, Premature ovarian... OMIM:610965
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Nonprogressive muscular atrophy, Cachexia, Distal amyotrophy ORPHA:1216
Systemic Capillary Leak Syndrome
Oliguria, Myalgia, Renal insufficiency, Leukocytosis, Abnormal renal tubule morphology, Fatigue, ... ORPHA:188
Marchiafava-Bignami Disease
Urinary incontinence, Facial palsy, Limb hypertonia ORPHA:221074
Cystinosis
Nephropathy, Aminoaciduria, Failure to thrive, Renal insufficiency, Renal tubular dysfunction, My... ORPHA:213
Mitochondrial Membrane Protein-Associated Neurodegeneration
Urinary incontinence, Bowel incontinence ORPHA:289560
Sarcoidosis
Abnormal reproductive system morphology, Weight loss, Erythema nodosum, Tubulointerstitial nephri... ORPHA:797
Coenzyme Q10 Deficiency, Primary, 1
Focal segmental glomerulosclerosis, Pancytopenia, Ragged-red muscle fibers, Elevated circulating ... OMIM:607426
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Small scrotum, Multiple bladder diverticula, Recurrent otitis media, Cryptorchidism, Proteinuria ORPHA:2728
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Urinary incontinence, Low back pain, Bowel incontinence OMIM:600142
Idiopathic Achalasia
Chest pain, Recurrent aspiration pneumonia, Weight loss, Decreased circulating prealbumin concent... ORPHA:930
Charcot-Marie-Tooth Disease Type 1F
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Skeletal muscle... ORPHA:101085
Yao Syndrome
Uveitis, Inflammatory abnormality of the skin, Xerostomia, Chest pain, Myalgia, Skin rash, Nephro... OMIM:617321
Transcobalamin Deficiency
Acute kidney injury, Methylmalonic aciduria, Lymphopenia, Pancytopenia, Neutropenia, Thrombocytop... ORPHA:859
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Hydroureter OMIM:618240
Wieacker-Wolff Syndrome, Female-Restricted