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.

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Viewing: all phenotypes

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 Forepaw

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 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
Posterior Urethral Valve
Dysuria, Pyelonephritis, Enuresis nocturna, Recurrent urinary tract infections, Unilateral renal ... ORPHA:93110
Xanthinuria, Type I
Xanthinuria, Xanthine nephrolithiasis, Pyelonephritis, Hyperxanthinemia, Hydronephrosis, Myopathy OMIM:278300
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Increased blood urea nitrogen, Elevated circulating creatinine conce... OMIM:614817
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Neurogenic bladder, Recurrent urinary tract infections, Vesicoureteral reflux, Hydronephrosis, Fa... OMIM:191800
Urofacial Syndrome 1
Cryptorchidism, Urethral obstruction, Hydroureter, Urethral valve, Recurrent urinary tract infect... OMIM:236730
Bladder Diverticulum
Dysuria, Urethral sphincter sclerosis, Hematuria, Urinary hesitancy, Recurrent urinary tract infe... OMIM:109820
Renal Hypoplasia
Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth... ORPHA:93101
Tubulointerstitial Nephritis With Uveitis
Non-caseating epithelioid cell granulomatosis, Panuveitis, Elevated circulating creatinine concen... OMIM:607665
Ochoa Syndrome
Cryptorchidism, Urethral obstruction, Recurrent urinary tract infections, Urinary incontinence, B... ORPHA:2704
Igg4-Related Kidney Disease
Hematuria, Pericarditis, Acute kidney injury, Interstitial pneumonitis, Urinary bladder inflammat... ORPHA:449395
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Microscopic hematuria, Stage 5 chronic kidney dise... OMIM:161900
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Red-brown urine, Increased muscle lipid content, Renal tubular epithelial necrosis, Rhabdomyolysi... ORPHA:228302
Adrenomyodystrophy
Megacystis, Primary adrenal insufficiency, Abnormality of the urinary system, Failure to thrive, ... ORPHA:977
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Pyelonephritis, Oligospermia, Renal dysplasia, Torticollis, Nephritis, Unilateral... OMIM:314300
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Arthralgia, Nephritis, Arthritis OMIM:216950
Iga Nephropathy, Susceptibility To, 2
Arthralgia, Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephriti... OMIM:613944
Nephronophthisis 18
Nephronophthisis, Renal tubular atrophy, Tubulointerstitial nephritis, Stage 5 chronic kidney dis... OMIM:615862
Medullary cystic kidney disease 2
Multiple renal cysts, Enuresis, Hyperuricemia, Renal tubular atrophy, Gout, Renal corticomedullar... OMIM:603860
Autosomal Dominant Polycystic Kidney Disease
Reduced sperm motility, Hematuria, Pyelonephritis, Enlarged kidney, Albuminuria, Elevated circula... ORPHA:730
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hyperglycinemia, Thrombocytopenia, Tubulointerstitial nephritis, Methylmalonic aciduria, Methylma... OMIM:251000
Spastic Paraplegia 41, Autosomal Dominant
Urinary urgency OMIM:613364
Spastic Paraplegia 13, Autosomal Dominant
Urinary incontinence, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary ... OMIM:605280
Lipoprotein Glomerulopathy
Mesangial hypercellularity, Renal insufficiency, Glomerulopathy, Proteinuria OMIM:611771
Spastic Paraplegia 12, Autosomal Dominant
Urinary incontinence, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary ... OMIM:604805
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Hydronephrosis, Duplicated collecting system OMIM:163850
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Elevated circulating creatinine concentration, Glomerulonephritis, Stage 5 chro... OMIM:614376
Spastic Paraplegia 19, Autosomal Dominant
Urinary incontinence, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary ... OMIM:607152
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Fetal pyelectasis, Megacystis, Recurrent urinary tract infections, Nephrolithiasis OMIM:619365
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Urethral obstruction, Autoimmune thrombocytopenia, Hypertrophy of the urinary bladder, Renal hypo... OMIM:601389
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia, Megacystis, Polyuria, Failure to thrive OMIM:125800
Diabetes Insipidus, Nephrogenic, X-Linked
Hypernatremia, Megacystis, Polyuria, Failure to thrive OMIM:304800
Spastic Paraplegia 72, Autosomal Recessive
Urinary bladder sphincter dysfunction OMIM:615625
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency
Urinary bladder sphincter dysfunction ORPHA:284282
Microsporidiosis
Peritonitis, Thyroiditis, Decreased proportion of CD4-positive helper T cells, Pneumonia, Weight ... ORPHA:2552
Endove Syndrome, Limb-Brain Type
Neurogenic bladder, Recurrent urinary tract infections, Hydronephrosis, Failure to thrive, Osteom... OMIM:619218
Urofacial Syndrome 2
Recurrent urinary tract infections, Enuresis, Urinary urgency, Vesicoureteral reflux, Hydronephro... OMIM:615112
Prune Belly Syndrome
Cryptorchidism, Abnormality of the uterus, Urogenital sinus anomaly, Hydroureter, Decreased testi... ORPHA:2970
Complement Factor I Deficiency
Pyelonephritis, Recurrent otitis media, Recurrent sinusitis, Recurrent urinary tract infections, ... OMIM:610984
Spastic Paraplegia 8, Autosomal Dominant
Urinary incontinence, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary ... OMIM:603563
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Podocyte foot process effacement, Increased CD4:CD8 ratio, Impaired lymphocyte transformation wit... OMIM:617006
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial fibrosis, Renal hypoplasia, Elevated circulating creatinine concentration, Glo... OMIM:174000
Autosomal Dominant Spastic Paraplegia Type 13
Urinary incontinence, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary ... ORPHA:100994
Senior-Loken Syndrome 9
Nephronophthisis, Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Hypogonadism, Obe... OMIM:616629
Hyperprolinemia Type 1
Hyperprolinemia, Prolinuria, Nephropathy, Proteinuria ORPHA:419
Spastic Paraplegia 36, Autosomal Dominant
Urinary incontinence, Urinary urgency, Lower limb muscle weakness OMIM:613096
Nephrotic Syndrome, Type 7
Hemolytic anemia, Acute kidney injury, Thrombocytopenia, Hemolytic-uremic syndrome, Glomeruloneph... OMIM:615008
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Proximal tubulopathy, Aminoaciduria, Weight loss, Cachexia, Failure to thrive OMIM:612075
Hand-Foot-Genital Syndrome
Small thenar eminence, Longitudinal vaginal septum, Pyelonephritis, Chordee, Bifid scrotum, Urete... OMIM:140000
Spastic Paraplegia 37, Autosomal Dominant
Urinary incontinence, Urinary urgency OMIM:611945
Iga Nephropathy, Susceptibility To, 1
Arthralgia, Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephriti... OMIM:161950
Idiopathic Non-Lupus Full-House Nephropathy
Skin rash, Acute kidney injury, Proteinuria, Elevated circulating creatinine concentration, Synov... ORPHA:567544
Systemic Lupus Erythematosus 16
Nephritis OMIM:614420
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:614199
Spastic Paraplegia 6, Autosomal Dominant
Urinary incontinence, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary ... OMIM:600363
Spastic Paraplegia 3, Autosomal Dominant
Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary incontinence, Urinary ... OMIM:182600
Spastic Paraplegia 10, Autosomal Dominant
Urinary incontinence, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary ... OMIM:604187
Congenital Primary Megaureter
Abdominal pain, Abnormal penis morphology, Congenital megaureter, Recurrent urinary tract infecti... ORPHA:617
Spastic Paraplegia 27, Autosomal Recessive
Spastic/hyperactive bladder OMIM:609041
Prune Belly Syndrome
Cryptorchidism, Hydroureter, Urethral valve, Xerostomia, Hydronephrosis, Congenital posterior ure... OMIM:100100
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Muscular dystrophy, Punctate keratitis, Keratitis, Urethral stricture, Anemia OMIM:226670
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Hyperuricemia, Nephropathy, Renal tubular atrophy, Gout, Renal insufficiency, Nephritis OMIM:162000
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Nephrotic syndrome OMIM:614652
Granulomatosis With Polyangiitis
Skin rash, Hematuria, Pericarditis, Weight loss, Elevated circulating C-reactive protein concentr... ORPHA:900
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo... OMIM:619201
Siddiqi Syndrome
Urinary incontinence, Flexion contracture, Lower limb amyotrophy OMIM:618635
Adult Polyglucosan Body Disease
Neurogenic bladder, Urinary bladder sphincter dysfunction, Urinary incontinence ORPHA:206583
Autosomal Dominant Spastic Paraplegia Type 73
Urinary incontinence, Urinary urgency, Distal lower limb amyotrophy, Distal lower limb muscle wea... ORPHA:444099
Wolfram Syndrome 1
Neurogenic bladder, Hydroureter, Megaloblastic anemia, Hypothyroidism, Sideroblastic anemia, Thro... OMIM:222300
Peroxisome Biogenesis Disorder 10B
Neurogenic bladder, Nephrocalcinosis OMIM:617370
Atresia Of Urethra
Megacystis, Hydroureter, Recurrent urinary tract infections, Renal dysplasia, Vesicoureteral refl... ORPHA:105
Silver-Russell Syndrome 1
Urethral valve, Abnormality of the ureter, Testicular seminoma, Nephroblastoma, Small for gestati... OMIM:180860
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Elevated circulating creatinine concentration, Absence of rena... OMIM:602088
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A
Urinary incontinence, Urinary urgency OMIM:156310
Spastic Paraplegia, Ataxia, And Mental Retardation
Urinary incontinence, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary ... OMIM:607565
Autosomal Recessive Spastic Paraplegia Type 48
Urinary incontinence, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Elevated... ORPHA:306511
Lower Urinary Tract Obstruction, Congenital
Pollakisuria, Urinary incontinence, Urethral stenosis, Vesicoureteral reflux, Congenital posterio... OMIM:618612
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Peritonitis, Renal cortical hyperechogenicity, Megacystis, Pyelonephritis, Anuria, Fetal megacystis OMIM:619351
Drug Rash With Eosinophilia And Systemic Symptoms
Skin rash, Pustule, Lymphocytosis, Interstitial pneumonitis, Thyroiditis, Erythroderma, Weight lo... ORPHA:139402
Glomerulopathy With Fibronectin Deposits 1
Lobular glomerulopathy, Nephropathy, Glomerulopathy, Microscopic hematuria, Stage 5 chronic kidne... OMIM:137950
Autosomal Dominant Spastic Paraplegia Type 36
Urinary incontinence, Urinary urgency, Arthritis ORPHA:320365
Spastic Paraplegia 16, X-Linked
Urinary bladder sphincter dysfunction, Facial hypotonia, Lower limb muscle weakness, Urinary inco... OMIM:300266
X-Linked Spastic Paraplegia Type 16
Functional abnormality of the bladder ORPHA:100997
3-Methylglutaconic Aciduria, Type Ix
Urinary incontinence, Failure to thrive, 3-Methylglutaconic aciduria OMIM:617698
Birk-Landau-Perez Syndrome
Limb hypertonia, Tubulointerstitial nephritis, Hyperechogenic kidneys, Renal insufficiency, Hyper... OMIM:617595
Hemangioblastoma
Neurogenic bladder, Trigeminal neuralgia, Lower limb muscle weakness, Upper limb muscle weakness ORPHA:252054
Mitochondrial Complex I Deficiency, Nuclear Type 27
Neurogenic bladder OMIM:618248
Thyrocerebrorenal Syndrome
Abnormality of the musculature of the limbs, Renal insufficiency, Thrombocytopenia, Nephritis ORPHA:3327
Spastic Paraplegia 4, Autosomal Dominant
Urinary bladder sphincter dysfunction, Low back pain, Lower limb muscle weakness, Urinary inconti... OMIM:182601
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Decreased plasma total carnitine, Cystic renal dysplasia, Renal tubular epitheli... ORPHA:157
Renal Hypodysplasia/Aplasia 3
Abnormality of the uterus, Horseshoe kidney, Multicystic kidney dysplasia, Renal dysplasia, Vesic... OMIM:617805
Diencephalic Syndrome
Hyperhidrosis, Cachexia, Long penis, Decreased body weight ORPHA:1672
Nephrotic Syndrome, Type 15
Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic syndrome, Minimal change glomeruloneph... OMIM:617609
Igg4-Related Retroperitoneal Fibrosis
Hydrocele testis, Hematuria, Acute kidney injury, Elevated circulating creatinine concentration, ... ORPHA:49041
Immunodeficiency, Common Variable, 6
Arthralgia, Autoimmune thrombocytopenia, Enlarged kidney, Nephrotic range proteinuria, Mesangial ... OMIM:613496
Lymphatic Filariasis
Hydrocele testis, Epididymitis, Hematuria, Urethral obstruction, Abnormality of the scrotum, Lymp... ORPHA:2035
3-Methylglutaconic Aciduria Type 9
Urinary incontinence, Failure to thrive, Slender build, 3-Methylglutaconic aciduria ORPHA:505216
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Minimal ... OMIM:256020
2p15-16.1 microdeletion syndrome
Camptodactyly of finger, Hydronephrosis DECIPHER:70
Fechtner syndrome
Hematuria, Thrombocytopenia, Leukocyte inclusion bodies, Menorrhagia, Giant platelets, Stage 5 ch... OMIM:153640
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Webb-Dattani Syndrome
Neurogenic bladder, Cryptorchidism, Hypernatremia, Pituitary hypothyroidism, Vesicoureteral reflu... OMIM:615926
Lipodystrophy, Partial, Acquired, Susceptibility To
Hematuria, Abnormal circulating lipid concentration, Polycystic ovaries, Membranoproliferative gl... OMIM:608709
Eosinophilic Granulomatosis With Polyangiitis
Skin rash, Renal insufficiency, Arthralgia, Endocarditis, Hematuria, Increased inflammatory respo... ORPHA:183
Fowler Urethral Sphincter Dysfunction Syndrome
Dysuria, Abnormality of the ovary, Oligomenorrhea, Amenorrhea, Polycystic ovaries, Urinary incont... ORPHA:2795
Autosomal Recessive Cutis Laxa Type 1
Pyelonephritis, Recurrent urinary tract infections, Multiple bladder diverticula, Vesicoureteral ... ORPHA:90349
Leigh Syndrome With Nephrotic Syndrome
Renal tubular acidosis, Tubulointerstitial nephritis, Renal cyst, Hypoalbuminemia, Nephrotic synd... ORPHA:255249
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypocalcemia, Decreased prealbumin level, Interstitial pneumonitis, Eczematoid dermatitis, Thyroi... ORPHA:37042
Lead Poisoning
Skin rash, Reduced sperm motility, Abnormal sperm morphology, Chronic kidney disease, Small for g... ORPHA:330015
Duplication Of Urethra
Bladder duplication, Chordee, Recurrent urinary tract infections, Vesicoureteral reflux, Coronal ... ORPHA:237
Listeriosis
Peritonitis, Pericarditis, Acute kidney injury, Pneumonia, Chills, Myocarditis, Spontaneous abort... ORPHA:533
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Nephrotic s... OMIM:616002
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Thrombocytopenia, Proteinuria ORPHA:2134
Autosomal Dominant Spastic Paraplegia Type 6
Urinary incontinence, Skeletal muscle atrophy ORPHA:100988
Pauci-Immune Glomerulonephritis
Arthralgia, Scleritis, Arteritis, Acute kidney injury, Abdominal pain, Nephrotic range proteinuri... ORPHA:93126
Porphyria Variegata
Neurogenic bladder, Porphyrinuria, Abdominal pain, Back pain, Hyponatremia, Proximal muscle weakn... ORPHA:79473
Spastic Paraplegia 76, Autosomal Recessive
Urinary incontinence, Lower limb muscle weakness, Skeletal muscle atrophy OMIM:616907
Familial Visceral Myopathy
Camptodactyly of finger, Megacystis, Hydroureter, Vesicoureteral reflux, Aplasia/Hypoplasia of th... ORPHA:2604
Preeclampsia/Eclampsia 1
Thrombocytopenia, Proteinuria OMIM:189800
Nail-Patella-Like Renal Disease
Glomerulopathy, Microscopic hematuria, Renal insufficiency, Proteinuria ORPHA:2613
Majeed Syndrome
Pustule, Hypochromic microcytic anemia, Arthralgia, Proteinuria, Leukocytosis, Congenital hypopla... ORPHA:77297
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Urinary incontinence, Foot dorsiflexor weakness OMIM:616688
Spastic Paraplegia 48, Autosomal Recessive
Urinary incontinence, Lower limb muscle weakness OMIM:613647
Perineural Cyst
Sciatica, Recurrent urinary tract infections, Chest pain, Hip pain, Lower limb pain, Low back pai... ORPHA:65250
Polyglucosan Body Neuropathy, Adult Form
Neurogenic bladder OMIM:263570
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Urinary incontinence, Osteomyelitis, Episodic hyperhidrosis OMIM:613115
Congenital Disorder Of Glycosylation, Type Iii
Neurogenic bladder OMIM:613612
Preeclampsia
Acute kidney injury, Abdominal pain, Elevated circulating creatinine concentration, Polycystic ov... ORPHA:275555
Primary Membranoproliferative Glomerulonephritis
Glomerular subendothelial electron-dense deposits, Acute kidney injury, Microscopic hematuria, Ch... ORPHA:54370
Image Syndrome
Hypospadias, Hypogonadism, Hydronephrosis, Cryptorchidism ORPHA:85173
Focal Segmental Glomerulosclerosis 6
Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Chronic kidney disease, Hyp... OMIM:614131
Nephrotic Syndrome, Type 20
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:301028
Focal Segmental Glomerulosclerosis 8
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:616032
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Neurogenic bladder, Interosseus muscle atrophy, Fiber type grouping, Thenar muscle atrophy, Dista... OMIM:500013
Apnea, Central Sleep
Urinary incontinence OMIM:207720
Nephrotic Syndrome, Type 18
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:618177
Spastic Paraplegia 11, Autosomal Recessive
Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Thenar muscle atrophy, Urinary... OMIM:604360
Nephrotic Syndrome, Type 17
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Microscopic hematuria, ... OMIM:618176
Nephrotic Syndrome, Type 19
Proteinuria, Chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomer... OMIM:618178
Multiple Sclerosis, Susceptibility To
Urinary incontinence, Urinary hesitancy OMIM:126200
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Increased blood urea nitrogen,... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Increased blood urea nitrogen,... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Increased blood urea nitrogen,... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Increased blood urea nitrogen,... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Increased blood urea nitrogen,... OMIM:612926
Hereditary Renal Hypouricemia
Abnormal renal physiology, Abnormal renal tubule morphology, Mild proteinuria, Hematuria, Acute k... ORPHA:94088
Drug-Induced Lupus Erythematosus
Arthralgia, Hematuria, Pericarditis, Increased blood urea nitrogen, Thrombocytopenia, Malar rash,... ORPHA:231111
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Neurogenic bladder OMIM:618527
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Prostatitis, Epididymitis, Recurrent otitis media, Pyoderma, Pneumonia, Septic arthritis, Recurre... OMIM:307200
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Nephr... OMIM:603965
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Iga Nephropathy, Susceptibility To, 3
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Mesangial hypercellu... OMIM:616818
Autosomal Recessive Spastic Paraplegia Type 27
Spastic/hyperactive bladder ORPHA:101007
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Neurogenic bladder, Type 2 muscle fiber predominance, Hyperhidrosis, Increased variability in mus... OMIM:619173
Recessive Dystrophic Epidermolysis Bullosa Inversa
Gastrointestinal inflammation, Vaginal stricture, Abnormality of the urinary system, Urethral str... ORPHA:79409
Adult-Onset Distal Myopathy Due To Vcp Mutation
EMG: myopathic abnormalities, Scapular winging, Intrinsic hand muscle atrophy, Mildly elevated cr... ORPHA:329478
Agammaglobulinemia, X-Linked
Prostatitis, Epididymitis, Pyoderma, Pneumonia, Septic arthritis, Recurrent urinary tract infecti... OMIM:300755
Macdermot-Winter Syndrome
Camptodactyly of finger, Hypoplastic male external genitalia, Hydronephrosis OMIM:247990
Myopathy, Myofibrillar, 7
Shoulder flexion contracture, Type 2 muscle fiber predominance, Flexion contracture, Increased Z-... OMIM:617114
Charcot-Marie-Tooth Disease, Type 4B3
Urinary incontinence, Limb muscle weakness OMIM:615284
Nephrotic Syndrome, Type 16
Proteinuria, Hematuria, Nephrotic syndrome OMIM:617783
Leukodystrophy, Progressive, Early Childhood-Onset
Neurogenic bladder, Flexion contracture OMIM:617762
Visceral Myopathy 1
Megacystis, Abdominal pain, Vesicoureteral reflux, Urinary retention, Hydronephrosis, Pancreatitis OMIM:155310
Alstrom Syndrome
Nephritis, Chronic active hepatitis, Hypergonadotropic hypogonadism, Irregular menstruation, Hypo... OMIM:203800
Alkaptonuria
Prostatitis, Thickened Achilles tendon, Arthralgia, Tendon rupture, Aminoaciduria, Osteoarthritis... ORPHA:56
Autosomal Recessive Frontotemporal Pachygyria
Urinary incontinence ORPHA:329329
X-Linked Adrenoleukodystrophy
Neurogenic bladder, Urinary bladder sphincter dysfunction, Leg muscle stiffness, Impotence, Adren... ORPHA:43
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Nephrocalcinosis, Low-molecular-weight proteinuria, Hyposthenuria, Focal segmen... OMIM:308990
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Argininuri... ORPHA:470
Spinocerebellar Ataxia 48
Urinary incontinence, Cachexia OMIM:618093
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the urinary system, Hydronephrosis, Abnormality of the upper urinary ... ORPHA:2838
Autosomal Dominant Spastic Paraplegia Type 8
Urinary incontinence, Urinary urgency, Lower limb muscle weakness, Peroneal muscle atrophy ORPHA:100989
Hereditary Xanthinuria
Decreased urinary urate, Hematuria, Acute kidney injury, Xanthinuria, Xanthine nephrolithiasis, I... ORPHA:3467
Autosomal Dominant Spastic Paraplegia Type 12
Lower limb muscle weakness, Female sexual dysfunction, Urinary incontinence, Urinary urgency, Bow... ORPHA:100993
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Decreased plasma total carnitine, Cystic renal dysplasia, Renal tubular epitheli... ORPHA:228308
Visceral Myopathy 2
Esophagitis, Necrotizing enterocolitis, Megacystis OMIM:619350
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Membranoproliferative glomerulonephritis, Hematuria, Proteinuria, Nephrotic syndrome OMIM:613913
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Hydronephrosis ORPHA:2669
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic sy... OMIM:600995
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic sy... OMIM:615573
Glomerulopathy With Fibronectin Deposits 2
Generalized distal tubular acidosis, Glomerulopathy, Microscopic hematuria, Renal cell carcinoma,... OMIM:601894
Acquired Partial Lipodystrophy
Lymphocytosis, Arthralgia, Glomerulopathy, Microscopic hematuria, Myopathy, Proteinuria ORPHA:79087
Myh9-Related Disease
Congenital thrombocytopenia, Increased mean platelet volume, Nephropathy, Menorrhagia, Giant plat... ORPHA:182050
Autosomal Recessive Spastic Paraplegia Type 77
Neurogenic bladder, Bilateral cryptorchidism, Urinary incontinence, Detrusor sphincter dyssynergi... ORPHA:466722
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hematuria, Proteinuria OMIM:614034
Spastic Paraplegia 5A, Autosomal Recessive
Urinary incontinence, Lower limb muscle weakness OMIM:270800
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Failure to thrive in infancy, Decreased glomerular filtration rate, Tubulointerstitial nephritis,... ORPHA:488627
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Thrombocytopenia, Aplastic anemia, Urethral stricture, Leukopenia, Failure to thrive OMIM:613989
Isolated Epispadias
Urinary incontinence, Vesicoureteral reflux, Anteriorly displaced urethral meatus, Epispadias, Bi... ORPHA:93928
Autosomal Recessive Spastic Paraplegia Type 46
Infertility, Reduced sperm motility, Abnormal sperm head morphology, Abnormal sperm morphology, U... ORPHA:320391
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Urinary incontinence, Low back pain OMIM:600142
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hypoalbuminemia, Anemia, Stage 5 chronic kidney disease, Hype... OMIM:603278
Maternal Uniparental Disomy Of Chromosome 4
Neurogenic bladder, Abetalipoproteinemia, Limb-girdle muscular dystrophy, Abnormal erythrocyte mo... ORPHA:96180
Junctional Epidermolysis Bullosa With Pyloric Atresia
Hematuria, Urinary bladder inflammation, Renal dysplasia, Hydronephrosis, Urethral stricture, Rec... ORPHA:79403
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Camptodactyly, Tubulointerstitial nephritis, Enuresis, Abnormality of the kidney ORPHA:459061
Intellectual Developmental Disorder, X-Linked 90
Enuresis OMIM:300850
Amyloidosis, Familial Visceral
Skin rash, Hematuria, Nephropathy, Splenomegaly, Nephrotic syndrome, Proteinuria OMIM:105200
Hinman Syndrome
Recurrent urinary tract infections, Enuresis, Bowel incontinence, Vesicoureteral reflux, Hydronep... ORPHA:84085
X-Linked Intellectual Disability, Schimke Type
Failure to thrive in infancy, Vesicoureteral reflux, Hydronephrosis, Knee flexion contracture, Hi... ORPHA:85285
Spastic Paraplegia 46, Autosomal Recessive
Urinary incontinence, Infertility, Lower limb muscle weakness, Limb muscle weakness OMIM:614409
Scalp-Ear-Nipple Syndrome
Hypohidrosis, Pyelonephritis, Recurrent urinary tract infections, Duplication of renal pelvis, Ur... ORPHA:2036
C3 Glomerulopathy
Hematuria, Acute kidney injury, Elevated circulating creatinine concentration, Membranoproliferat... ORPHA:329918
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Reduced renal corticomedullary differentiatio... OMIM:611555
Brain-Lung-Thyroid Syndrome
Compensated hypothyroidism, Megacystis, Congenital hypothyroidism, Vesicoureteral reflux, Failure... ORPHA:209905
Macs Syndrome
Cryptorchidism, Bronchiectasis, Hypergonadotropic hypogonadism, Decreased body weight, Urethral s... OMIM:613075
22Q11.2 Duplication Syndrome
Urethral stenosis, Displacement of the urethral meatus, Hydronephrosis ORPHA:1727
Autosomal Dominant Spastic Paraplegia Type 4
Urinary bladder sphincter dysfunction, Urinary urgency ORPHA:100985
Baralle-Macken Syndrome
Urinary incontinence, Obesity OMIM:619255
Focal Segmental Glomerulosclerosis 5
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeruloscle... OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Hematuria, Proteinuria, Focal segmental glomerulosclerosis OMIM:607832
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Focal segmental glomerulosclerosis, Nephropathy, Glomerulopathy, Thrombocytopenia, Nephrotic synd... OMIM:254900
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Cryptorchidism, Megacystis, Multicystic kidney dysplasia, Hydroureter ORPHA:2241
Autosomal Recessive Spastic Paraplegia Type 78
Neurogenic bladder, Facial myokymia ORPHA:513436
Spastic Paralysis, Infantile-Onset Ascending
Urinary incontinence, Achilles tendon contracture OMIM:607225
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Hypertriglyceridemia, Normochromic anemia, Decreased HDL cholesterol concentrat... OMIM:245900
Cog5-Cdg
Neurogenic bladder, Camptodactyly of finger, Cryptorchidism, Urinary incontinence, Joint contract... ORPHA:263487
Systemic Lupus Erythematosus
Hemolytic anemia, Pericarditis, Thrombocytopenia, Lupus nephritis, Malar rash, Leukopenia, Nephri... OMIM:152700
Sjogren Syndrome
Xerostomia, Rheumatoid arthritis, Keratoconjunctivitis sicca, Tubulointerstitial nephritis OMIM:270150
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Urinary incontinence, Distal amyotrophy ORPHA:352641
Congenital Anomalies Of Kidney And Urinary Tract 3
Vesicoureteral reflux, Ectopic kidney, Renal cyst, Hydronephrosis OMIM:618270
Thyrocerebroretinal Syndrome
Thrombocytopenia, Nephritis, Skeletal muscle atrophy OMIM:274240
Lymphedema-Distichiasis Syndrome
Recurrent urinary tract infections, Glomerulopathy, Conjunctivitis, Tubulointerstitial nephritis,... ORPHA:33001
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Increased blood urea nitrogen, Enlarged kidney, Membranoproliferative ... ORPHA:251004
Spastic Paraplegia 44, Autosomal Recessive
Urinary incontinence OMIM:613206
Galloway-Mowat Syndrome 8
Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Hypoalbuminemia, Nephrotic ... OMIM:618349
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Foot dorsiflexor weakness, Focal segmental glomerulosclerosis, Distal lower limb amyotrophy, Stag... OMIM:614455
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Tubulointerstitial fibrosis, Proximal tubulopathy, Glomerular s... OMIM:310468
Autosomal Dominant Centronuclear Myopathy
EMG: myopathic abnormalities, Cryptorchidism, Mildly elevated creatine kinase, Centrally nucleate... ORPHA:169189
Trisomy 17P
Macroglossia, Urethral valve, Flexion contracture, Urethral stenosis, Hydronephrosis, Polycystic ... ORPHA:261290
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Abdominal pain, Reticulocytosi... ORPHA:54057
Melioidosis
Prostatitis, Lung abscess, Cutaneous abscess, Splenic abscess, Acute infectious pneumonia, Pneumo... ORPHA:31202
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Cryptorchidism, Megacystis, Transverse vaginal septum, Hydroureter, Duplicated collecting system,... OMIM:604292
Xfe Progeroid Syndrome
Renal insufficiency, Cachexia, Proteinuria OMIM:610965
Fibronectin Glomerulopathy
Glomerulopathy, Abnormal glomerular mesangium morphology, Microscopic hematuria, Hypoalbuminemia,... ORPHA:84090
Amyotrophic Dystonic Paraplegia
Urinary incontinence, Bowel incontinence, Skeletal muscle atrophy OMIM:105300
Dysmyelination With Jaundice
Cryptorchidism, Hydronephrosis, Hypoplasia of penis, Hydroureter OMIM:224250
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hydronephrosis, Duplicated collecting system, Failure to thrive OMIM:617093
Spastic Paraplegia 83, Autosomal Recessive
Urinary urgency OMIM:619027
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Neurogenic bladder, Multiple joint contractures ORPHA:466934
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Urinary incontinence OMIM:249900
Alport Syndrome 3, Autosomal Dominant
Hypophosphatemia, Hematuria, Azotemia, Thickened glomerular basement membrane, Glomerulonephritis... OMIM:104200
Pelizaeus-Merzbacher Disease In Female Carriers
Neurogenic bladder, Abnormality of the lower urinary tract ORPHA:280229
Spastic Paraplegia 80, Autosomal Dominant
Urinary urgency OMIM:618418
Congenital Disorder Of Glycosylation, Type Iie
Neurogenic bladder, Hydronephrosis, Skeletal muscle atrophy, Splenomegaly, Elevated circulating c... OMIM:608779
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Camptodactyly of finger, Spinal muscular atrophy, Diaphragmatic eventration, Urinary incontinence... OMIM:604320
Adenine Phosphoribosyltransferase Deficiency
Dysuria, Acute kidney injury, Urinary hesitancy, Uric acid nephrolithiasis, Abdominal colic, Recu... ORPHA:976
Spastic Paraplegia 35, Autosomal Recessive
Urinary incontinence, Urinary urgency OMIM:612319
Interstitial Cystitis
Pollakisuria, Nocturia, Urinary bladder inflammation, Abnormality of the bladder, Functional abno... ORPHA:37202
Scalp-Ear-Nipple Syndrome
Renal hypoplasia, Renal insufficiency, Renal agenesis, Pyelonephritis OMIM:181270
Nephrotic Syndrome, Type 14
Cryptorchidism, Focal segmental glomerulosclerosis, Hypothyroidism, Lymphopenia, Hypertriglycerid... OMIM:617575
Familial Mediterranean Fever, Autosomal Dominant
Peritonitis, Arthralgia, Renal amyloidosis, Abdominal pain, Erysipelas, Renal insufficiency, Ches... OMIM:134610
Lymphatic Malformation 1
Hydrocele testis, Urethral stricture OMIM:153100
Neuronal Intranuclear Inclusion Disease
Urinary incontinence OMIM:603472
Hydrocephalus, Normal-Pressure, 1
Urinary incontinence, Bowel incontinence OMIM:236690
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Hydroureter, Renal sarcoma, Mult... OMIM:143400
Anti-Glomerular Basement Membrane Disease
Arthralgia, Hematuria, Glomerulopathy, Arthritis, Anemia, Renal insufficiency, Chest pain, Myalgi... ORPHA:375
Tubulointerstitial Nephritis And Uveitis Syndrome
Skin rash, Reduced hematocrit, Elevated circulating creatinine concentration, Weight loss, Elevat... ORPHA:91500
Leukodystrophy, Hypomyelinating, 12
Neurogenic bladder, Flexion contracture OMIM:616683
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis, Pneumonia, Glomerulonephritis OMIM:247800
Nephrotic Syndrome, Type 6
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Hypoalbuminemia, Nephrotic syndr... OMIM:614196
Spinocerebellar Ataxia 42
Urinary incontinence, Urinary urgency OMIM:616795
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyperechogenic kidneys, Polyuria, Hyperuricemia, Renal salt wasting, Hyponatremia, Thrombocytopen... OMIM:613845
Adrenoleukodystrophy
Urinary bladder sphincter dysfunction, Primary adrenal insufficiency, Lower limb muscle weakness,... OMIM:300100
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Recurrent otitis media, Lymphopenia OMIM:615615
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Reti... OMIM:274150
Multicentric Reticulohistiocytosis
Histiocytosis, Cachexia, Arthritis ORPHA:139436
Orofaciodigital Syndrome Xviii
Urinary incontinence OMIM:617927
Vesicoureteral Reflux 3
Vesicoureteral reflux, Hydronephrosis, Hydroureter OMIM:613674
Spastic Paraplegia 29, Autosomal Dominant
Urinary hesitancy, Nocturia, Urinary incontinence, Urinary urgency, Neonatal hyperbilirubinemia OMIM:609727
Gitelman Syndrome
Hypocalcemia, Hypermagnesemia, Nocturia, Primary hyperaldosteronism, Hypomagnesemia, Iron deficie... ORPHA:358
Denys-Drash Syndrome
Nephropathy, Nephroblastoma, Male pseudohermaphroditism, Nephrotic syndrome, Gonadal dysgenesis, ... ORPHA:220
Ebola Hemorrhagic Fever
Skin rash, Abdominal pain, Fatigue, Thrombocytopenia, Metrorrhagia, Leukopenia, Renal insufficien... ORPHA:319218
Spastic Paraplegia 15, Autosomal Recessive
Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary incontinence, Urinary ... OMIM:270700
Galactosemia I
Increased level of galactitol in red blood cells, Hemolytic anemia, Albuminuria, Hypergonadotropi... OMIM:230400
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Hypohidrosis, Bronchiectasis, Failure to thrive in infancy, Colitis, Urethral stricture, Recurren... OMIM:301220
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Hypercalcemia, Anemia, Renal insufficiency, Hyperparathyroidism, Proteinuria ORPHA:2668
Glycogen Storage Disease X
Rhabdomyolysis, Myoglobinuria, Elevated circulating creatine kinase concentration, Renal insuffic... OMIM:261670
Spastic Paraplegia 7, Autosomal Recessive
Urinary bladder sphincter dysfunction, Lower limb hypertonia, Lower limb muscle weakness, Urinary... OMIM:607259
Frasier Syndrome
Focal segmental glomerulosclerosis, Primary amenorrhea, Gonadal dysgenesis, Stage 5 chronic kidne... OMIM:136680
Nephropathy With Pretibial Epidermolysis Bullosa And Deafness
Reduced beta/alpha synthesis ratio, Nephritis, Stage 5 chronic kidney disease OMIM:609057
Unilateral Focal Polymicrogyria
Urinary incontinence ORPHA:268947
Alport Syndrome 2, Autosomal Recessive
Hematuria, Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Stag... OMIM:203780
Pure Autonomic Failure
Dysuria, Impotence, Urinary incontinence, Anhidrosis, Constitutional symptom ORPHA:441
Glycogen Storage Disease Xi
Increased serum pyruvate, Rhabdomyolysis, Myoglobinuria, Elevated circulating creatine kinase con... OMIM:612933
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hyperammonemia, Decreased plasma total carnitine, Fatigue, Elevated circulating creatine kinase c... ORPHA:42
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Rhabdomyolysis, Aminoaciduria, Cholangitis, Tubulointerstitial nephritis, Failure to thrive, Ragg... OMIM:124000
Maternally-Inherited Diabetes And Deafness
Abnormal circulating lipid concentration, Glomerulopathy, Renal insufficiency, Myalgia, Proteinuria ORPHA:225
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Neurogenic bladder, Arthrogryposis multiplex congenita, Urinary incontinence, Bowel incontinence,... ORPHA:496641
Dent Disease 2
Hypophosphatemia, Low-molecular-weight proteinuria, Proximal tubulopathy, Aminoaciduria, Hypercal... OMIM:300555
Syringomyelia, Noncommunicating Isolated
Urinary incontinence, Limb muscle weakness, Neck pain OMIM:186700
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Aminoaciduria, Methylmalonic aciduria, Cachexia, Skeletal muscle atrophy, Elevated circulating cr... ORPHA:1933
Frasier Syndrome
Increased circulating gonadotropin level, Ambiguous genitalia, male, Focal segmental glomeruloscl... ORPHA:347
Mu-Heavy Chain Disease
Nephropathy, Weight loss, Abnormal B cell count, Bence Jones Proteinuria, Anemia, Splenomegaly ORPHA:100024
Idiopathic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Hypercholesterolemia, Acute kidney injury, Focal segmental glomerulosclerosis, Abdom... ORPHA:567548
Fanconi Anemia, Complementation Group O
Cryptorchidism, External genital hypoplasia, Hydronephrosis, Renal cyst, Stage 5 chronic kidney d... OMIM:613390
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Urinary incontinence OMIM:600795
Autosomal Spastic Paraplegia Type 72
Urinary bladder sphincter dysfunction ORPHA:401849
Sacral Defect With Anterior Meningocele
Neurogenic bladder, Urinary retention, Back pain, Rectal abscess OMIM:600145
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
EMG: myopathic abnormalities, Increased endomysial connective tissue, Limb-girdle muscular dystro... ORPHA:206549
Cednik Syndrome
Hypogonadism, Proteinuria, Nephrotic syndrome ORPHA:66631
Peroxisome Biogenesis Disorder 14B
Urinary incontinence, Hydrocele testis OMIM:614920
Pediatric Systemic Lupus Erythematosus
Skin rash, Renal insufficiency, Microangiopathic hemolytic anemia, Hematuria, Arthralgia, Protein... ORPHA:93552
Nephrotic Syndrome, Type 8
Thin glomerular basement membrane, Chronic kidney disease, Hypoalbuminemia, Nephrotic syndrome, D... OMIM:615244
3-Methylglutaconic Aciduria, Type I
Urinary incontinence, Failure to thrive, 3-Methylglutaconic aciduria OMIM:250950
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic sy... OMIM:610725
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Cachexia, Nephropathy, Proteinuria ORPHA:2774
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hypothyroidism, Glomerular sclerosis, Renal tubular atrophy, Small for gestation... OMIM:256300
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
Wolfram Syndrome 2
Neurogenic bladder, Primary amenorrhea, Oligomenorrhea OMIM:604928
Galloway-Mowat Syndrome 6
Hypothyroidism, Decreased response to growth hormone stimuation test, Decreased body weight, Hypo... OMIM:618347
Intellectual Developmental Disorder, X-Linked 98
Urinary incontinence, Failure to thrive OMIM:300912
Igg4-Related Submandibular Gland Disease
Prostatitis, Cholangitis, Xerostomia, Renal insufficiency, Abnormality of the kidney, Eosinophilia ORPHA:449432
Autosomal Recessive Spastic Paraplegia Type 76
Functional abnormality of the bladder ORPHA:488594
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Ovarian cyst, Hypoplasia of the bladder, Renal hypoplasia, Unilateral renal agene... OMIM:614527
Mckusick-Kaufman Syndrome
Glandular hypospadias, Cryptorchidism, Urogenital sinus anomaly, Multicystic kidney dysplasia, Hy... ORPHA:2473
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Urinary incontinence, Distal amyotrophy, Impotence, Foot dorsiflexor weakness ORPHA:98
Megabladder, Congenital
Multiple glomerular cysts, Fetal megacystis, Stage 5 chronic kidney disease, Hyperechogenic kidneys OMIM:618719
Neural Tube Defects, Susceptibility To
Urinary incontinence OMIM:182940
Hereditary Motor And Sensory Neuropathy, Type Iic
Shoulder girdle muscle atrophy, Urinary incontinence, Urinary urgency, Hand muscle atrophy, Dista... OMIM:606071
Autoimmune Polyendocrinopathy Type 3
Graves disease, Iridocyclitis, Autoimmune thrombocytopenia, Hypergonadotropic hypogonadism, Rheum... ORPHA:227982
Distal 16P11.2 Microdeletion Syndrome
Hyperuricemia, Obesity, Vesicoureteral reflux, Chronic kidney disease, Renal agenesis, Abnormalit... ORPHA:261222
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Urinary incontinence, Obesity ORPHA:464282
Autoimmune Polyendocrinopathy Type 4
Iridocyclitis, Autoimmune thrombocytopenia, Hypergonadotropic hypogonadism, Rheumatoid arthritis,... ORPHA:227990
Wolfram Syndrome, Mitochondrial Form
Hydroureter, Megaloblastic anemia, Neutropenia, Thrombocytopenia, Sideroblastic anemia, Hydroneph... OMIM:598500
Severe Generalized Junctional Epidermolysis Bullosa
Hydroureter, Recurrent urinary tract infections, Pneumonia, Duplicated collecting system, Abnorma... ORPHA:79404
Lcat Deficiency
Hematuria, Hemolytic anemia, Hypertriglyceridemia, Splenomegaly, Renal insufficiency, Proteinuria ORPHA:650
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Cryptorchidism, Nephropathy, Anemia, Nephrotic syndrome, Proteinuria ORPHA:1192
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Neurogenic bladder ORPHA:500144
Spastic Paraplegia 54, Autosomal Recessive
Urinary incontinence, Lower limb muscle weakness, Bowel incontinence OMIM:615033
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Renal insufficiency, Myalgia, Rhabdomyolysis, Myoglobinuria OMIM:255110
Nephrotic Syndrome, Type 11
Hypercholesterolemia, IgA deposition in the glomerulus, Focal segmental glomerulosclerosis, Renal... OMIM:616730
Glycogen Storage Disease Due To Aldolase A Deficiency
EMG: myopathic abnormalities, Decreased muscle mass, Hemolytic anemia, Acute kidney injury, Viral... ORPHA:57
Currarino Syndrome
Neurogenic bladder, Horseshoe kidney, Recurrent urinary tract infections, Septate vagina, Urinary... OMIM:176450
Spinocerebellar Ataxia 10
Urinary incontinence, Urinary urgency OMIM:603516
Adrenomyeloneuropathy
Urinary bladder sphincter dysfunction, Leg muscle stiffness, Erectile dysfunction, Primary adrena... ORPHA:139399
Multicentric Carpotarsal Osteolysis Syndrome
Renal insufficiency, Arthralgia, Nephropathy, Proteinuria OMIM:166300
Machado-Joseph Disease Type 3
Neurogenic bladder, Distal lower limb amyotrophy, Skeletal muscle atrophy ORPHA:276244
Immunodeficiency 19
Recurrent otitis media, Failure to thrive, Lymphopenia OMIM:615617
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Acute kidney injury, Increased blood urea nitrogen, Anuria, Re... OMIM:235400
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Primary Sjögren Syndrome
Thyroiditis, Decreased proportion of CD4-positive helper T cells, Optic neuritis, Chronic hepatit... ORPHA:289390
Dopamine Beta-Hydroxylase Deficiency
Elevated urinary dopamine, Increased blood urea nitrogen, Nocturia, Fatigue, Elevated circulating... ORPHA:230
Huntington Disease-Like 3
Urinary incontinence, Flexion contracture, Bowel incontinence OMIM:604802
Galloway-Mowat Syndrome 2, X-Linked
Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Minimal change glomerul... OMIM:301006
Igg4-Related Ophthalmic Disease
Prostatitis, Abnormality of the extraocular muscles, Trigeminal neuralgia, Thyroiditis, Orchitis,... ORPHA:449563
Acute Intermittent Porphyria
Dysuria, Abdominal pain, Dark urine, Elevated urinary delta-aminolevulinic acid, Back pain, Hypon... ORPHA:79276
Renpenning Syndrome
Hypospadias, Decreased testicular size, Cachexia, Skeletal muscle atrophy ORPHA:3242
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Urinary incontinence OMIM:617145
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Increased serum pyruvate, Rhabdomyolysis, Myoglobinuria, Elevated circulating creatine kinase con... ORPHA:2364
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Urinary incontinence OMIM:221770
Childhood Disintegrative Disorder
Urinary incontinence, Bowel incontinence ORPHA:168782
Spastic Paraplegia 31, Autosomal Dominant
Urinary urgency OMIM:610250
Congenital Nephrotic Syndrome, Finnish Type
Abnormal renal tubule morphology, Elevated amniotic fluid alpha-fetoprotein, Proteinuria, Nephrot... ORPHA:839
Myopathy, Congenital, Progressive, With Scoliosis
Cryptorchidism, Facial hypotonia, Renal atrophy, Congenital contracture, Hydronephrosis, Skeletal... OMIM:618578
Uremic Pruritus
Hypermagnesemia, Increased blood urea nitrogen, Renal hypophosphatemia, Chronic kidney disease, H... ORPHA:94059
Meier-Gorlin Syndrome 7
Cryptorchidism, Clitoral hypertrophy, Decreased body weight, Vesicoureteral reflux, Urethral stri... OMIM:617063
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Hyperkalemia, Acute kidney injury, Rhabdomyolysis, Elevated circulating creatine kinase concentra... OMIM:268200
Exstrophy-Epispadias Complex
Cryptorchidism, Bifid uterus, Bladder duplication, Vesicoureteral reflux, Bladder exstrophy, Rena... ORPHA:322
Coenzyme Q10 Deficiency, Primary, 6
Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Focal segmental glomerulosclerosis OMIM:614650
Spinocerebellar Ataxia 17
Urinary incontinence OMIM:607136
Alport Syndrome
Mesangial hypercellularity, Hematuria, IgA deposition in the glomerulus, Tubulointerstitial fibro... ORPHA:63
Retinal Venous Beading
Nephritis, Neutropenia OMIM:180080
Tbck-Related Intellectual Disability Syndrome
Neurogenic bladder, Cryptorchidism, Macroglossia, Diastasis recti, Hypothyroidism, Abnormal circu... ORPHA:488632
Immunodeficiency 50
Eczema, Lymphopenia, Recurrent urinary tract infections, Neutropenia OMIM:300988
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Arthrogryposis multiplex congenita, Vesicoureteral reflux, Hydronephrosis, Decreased body weight OMIM:618265
Myoglobinuria, Autosomal Dominant
Elevated circulating creatine kinase concentration, Myalgia, Acute kidney injury, Myoglobinuria OMIM:160010
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Mucopolysacchariduria, Abnormal T cell morphology, Small for gestational age, Nephrotic syndrome,... OMIM:215250
Imerslund-Grasbeck Syndrome 1
Megaloblastic anemia, Proteinuria OMIM:261100
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Infertility, Cryptorchidism, Ambiguous genitalia, Hypothyroidism, Abnormality of the urethra, Mal... ORPHA:752
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Macroglossia, Scapular winging, Myalgia, Hypoglycosylation of alpha-dystroglycan, Proximal muscle... ORPHA:352479
Dopa-Responsive Dystonia
Urinary incontinence, Fatigue, Hyperhidrosis, Pain ORPHA:255
Congenital Disorder Of Glycosylation, Type Iig
Cryptorchidism, Camptodactyly, Failure to thrive in infancy, Thrombocytopenia, Hydronephrosis, Le... OMIM:611209
Alport Syndrome 1, X-Linked
Thickened glomerular basement membrane, Thrombocytopenia, Microscopic hematuria, Glomerular basem... OMIM:301050
Imerslund-Grasbeck Syndrome 2
Megaloblastic anemia, Proteinuria OMIM:618882
Cryptococcosis
Peritonitis, Prostatitis, Pneumonia, Lymphoid leukemia, Chest pain, Limb muscle weakness, Osteomy... ORPHA:1546
Indifference To Pain, Congenital, Autosomal Recessive
Urinary incontinence, Hypohidrosis, Anhidrosis OMIM:243000
Arnold-Chiari Malformation Type Ii
Neurogenic bladder, Hand muscle atrophy, Pneumonia, Upper limb muscle weakness ORPHA:1136
Huntington Disease-Like 3
Urinary incontinence, Flexion contracture, Bowel incontinence ORPHA:157946
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
X-Linked Non-Syndromic Intellectual Disability
Urinary incontinence, Facial palsy, Small for gestational age, Obesity ORPHA:777
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Hydronephrosis, Abnormal localization of kidney ORPHA:195
8P23.1 Duplication Syndrome
Adrenal insufficiency, Hydronephrosis ORPHA:251076
Aa Amyloidosis
Acute kidney injury, Renal amyloidosis, Enlarged kidney, Abdominal pain, Hypothyroidism, Nephropa... ORPHA:85445
Cockayne Syndrome
Abnormal renal physiology, Neurogenic bladder, Cryptorchidism, Renal hypoplasia, Unilateral renal... ORPHA:191
Malakoplakia
Dysuria, Skin rash, Abnormality of the menstrual cycle, Hematuria, Urinary hesitancy, Proteinuria... ORPHA:556
Galactose Epimerase Deficiency
Aminoaciduria, Weight loss, Splenomegaly ORPHA:79238
Pulmonary Blastoma
Chest pain, Weight loss, Recurrent pneumonia ORPHA:64741
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Hydroureter OMIM:618240
Glycogen Storage Disease V
Dark urine, Exercise-induced rhabdomyolysis, Myoglobinuria, Elevated circulating creatine kinase ... OMIM:232600
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pustule, Arthralgia, Increased inflammatory response, Proteinuria, Myositis, Fatigue, Crohn's dis... ORPHA:69126
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Iron deficiency anemia, Gastrointestinal inflammation, Urinary bladder sphincter dysfunction, Abn... ORPHA:79408
Silver-Russell Syndrome
Cryptorchidism, Arthralgia, Decreased muscle mass, Abnormal vagina morphology, Decreased testicul... ORPHA:813
Chiari Malformation Type I
Urinary incontinence, Limb muscle weakness, Neck pain OMIM:118420
Aredyld Syndrome
Splenomegaly, Cachexia, Abnormality of the ureter ORPHA:1133
Galloway-Mowat Syndrome 5
Glomerular sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:617731
Neuroleptic Malignant Syndrome
Hypocalcemia, Thrombocytosis, Acute kidney injury, Leukocytosis, Hypernatremia, Rhabdomyolysis, H... ORPHA:94093
Cockayne Syndrome Type 3
Neurogenic bladder, Hydroureter, Renal hypoplasia, Flexion contracture, Unilateral renal agenesis... ORPHA:90324
Parkinsonian-Pyramidal Syndrome
Neurogenic bladder, Hypomimic face ORPHA:171695
Cocaine Intoxication
Hematuria, Acute kidney injury, Abdominal pain, Rhabdomyolysis, Colitis, Glomerulonephritis, Tubu... ORPHA:90068
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Tubulointerstitial fibrosis, Hypophosphatemic rickets, Aminoaciduria, Glycosuri... OMIM:618913
Primary Hyperoxaluria Type 3
Abnormality of urine homeostasis, Dysuria, Abnormal renal physiology, Calcium oxalate nephrolithi... ORPHA:93600
Marburg Hemorrhagic Fever
Skin rash, Arthralgia, Hematuria, Abdominal pain, Fatigue, Menometrorrhagia, Weight loss, Thrombo... ORPHA:99826
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Hypouricemia, Aminoaciduria, Glycosuria, Large for gestational age, Nephrocalc... OMIM:616026
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
Urinary incontinence, Bowel incontinence OMIM:618868
Posterior Column Ataxia With Retinitis Pigmentosa
Flexion contracture of finger, Camptodactyly, Recurrent urinary tract infections, Urinary inconti... OMIM:609033
Fragile X Tremor/Ataxia Syndrome
Hypothyroidism, Impotence, Urinary incontinence, Bowel incontinence, Myalgia, Premature ovarian i... OMIM:300623
Spinocerebellar Ataxia Type 42
Urinary incontinence, Urinary urgency, Psoriasiform dermatitis, Impotence ORPHA:458803
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Muscular dystrophy, Renal dysplasia, Renal cyst, Hydronephrosis, Elevated circulating creatine ki... OMIM:615287
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Mucopolysaccharidosis-Plus Syndrome
Recurrent pneumonia, Macroglossia, Enlarged kidney, Focal segmental glomerulosclerosis, Flexion c... OMIM:617303
Intermediate Uveitis
Anterior uveitis, Psoriasiform dermatitis, Tubulointerstitial nephritis, Optic neuritis ORPHA:279914
Galloway-Mowat Syndrome 7
Hypercholesterolemia, IgA deposition in the glomerulus, Focal segmental glomerulosclerosis, Renal... OMIM:618348
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Increased muscle glycogen content, Acute kidney injury, Postexertional malaise, Dark urine, Rhabd... ORPHA:368
Igg4-Related Aortitis
Abdominal pain, Low back pain, Increased inflammatory response, Weight loss, Hypereosinophilia, H... ORPHA:449400
Nephrotic Syndrome, Type 22
Hypoproteinemia, Podocyte foot process effacement, Nephrotic range proteinuria, Glomerular sclero... OMIM:619155
Porphyria, Acute Intermittent
Dysuria, Abdominal pain, Urinary incontinence, Urinary retention, Elevated urinary delta-aminolev... OMIM:176000
Moynahan Syndrome
Hypogonadism, Cachexia ORPHA:2574
Adult Krabbe Disease
Urinary incontinence, Erectile dysfunction, Lower limb muscle weakness, Upper limb muscle weakness ORPHA:206448
Camptobrachydactyly
Urinary incontinence, Congenital finger flexion contractures, Septate vagina OMIM:114150
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Acute kidney injury, Lymphadenitis, Leukocytosis, C... OMIM:618886
Dent Disease
Hematuria, Renal hypophosphatemia, Bone pain, Hypercalciuria, Chronic kidney disease, Elevated ci... ORPHA:1652
Amyloidosis, Hereditary, Transthyretin-Related
Urinary incontinence, Impotence OMIM:105210
Dyskeratosis Congenita, X-Linked
Cryptorchidism, Horseshoe kidney, Decreased testicular size, Urethral stenosis, Conjunctivitis, P... OMIM:305000
Spinocerebellar Ataxia Type 19/22
Urinary incontinence ORPHA:98772
Phosphoglycerate Kinase 1 Deficiency
Hemolytic anemia, Reticulocytosis, Rhabdomyolysis, Renal insufficiency, Myopathy, Exercise-induce... OMIM:300653
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Cryptorchidism, Recurrent otitis media, Scrotal hypoplasia, Multiple bladder diverticula, Protein... ORPHA:2728
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Rhabdomyolysis, Decreased hemoglobin conce... ORPHA:713
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Lacticaciduria, Aminoaciduria, Glycosuria, Hypokalemia, Renal insufficiency, Re... OMIM:134600
Spastic Paraplegia 9A, Autosomal Dominant
Urinary incontinence, Urinary urgency, Generalized amyotrophy, Lower limb muscle weakness OMIM:601162
Yao Syndrome
Skin rash, Inflammatory abnormality of the skin, Arthralgia, Pericarditis, Abdominal pain, Weight... OMIM:617321
Vitiligo, Progressive, With Mental Retardation And Urethral Duplication
Distal urethral duplication OMIM:277465
Legionnaires Disease
Arthralgia, Endocarditis, Pericarditis, Hematuria, Abdominal pain, Fatigue, Lymphopenia, Hyponatr... ORPHA:549
Cryoglobulinemic Vasculitis
Arthralgia, Hematuria, Proteinuria, Viral hepatitis, Abdominal pain, Glomerulopathy, Keratoconjun... ORPHA:91138
Juvenile Amyotrophic Lateral Sclerosis
Contractures of the joints of the lower limbs, Urinary incontinence, Distal amyotrophy, Cachexia,... ORPHA:300605
Mental Retardation, Autosomal Dominant 42
Limb hypertonia, Hydronephrosis, Failure to thrive OMIM:616973
Paganini-Miozzo Syndrome
Urinary incontinence OMIM:301025
Charcot-Marie-Tooth Disease Type 1F
Hand muscle weakness, Flexion contracture of finger, Scapular winging, Proximal lower limb amyotr... ORPHA:101085
Hypoparathyroidism, Sensorineural Deafness, And Renal Disease
Hematuria, Aplasia of the vagina, Primary amenorrhea, Distal renal tubular acidosis, Septate vagi... OMIM:146255
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Dysuria, Acute kidney injury, Uric acid nephrolithiasis, Elevated circulating creatinine concentr... ORPHA:79233
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Nonprogressive muscular atrophy, Distal amyotrophy, Cachexia ORPHA:1216
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Postexertional malaise, Hyperlipidemia, Failure to thrive, Abnormality of the kidney, Proteinuria ORPHA:369
Cockayne Syndrome Type 1
Cryptorchidism, Hypohidrosis, Male hypogonadism, Increased blood urea nitrogen, Uveitis, Conjunct... ORPHA:90321
Basal Ganglia Calcification, Idiopathic, 1
Urinary incontinence OMIM:213600
Hypercalcemia, Infantile, 1
Polyuria, Weight loss, Hypercalciuria, Failure to thrive, Infantile hypercalcemia, Nephrocalcinos... OMIM:143880
Renal Nutcracker Syndrome
Infertility, Hematuria, Abdominal pain, Weight loss, Vulval varicose vein, Dyspareunia, Microscop... ORPHA:71273
Penoscrotal Transposition
Renal agenesis, Shawl scrotum, Penoscrotal transposition, Abnormality of the ureter, Renal dyspla... ORPHA:2842
Renal Cysts And Diabetes Syndrome
Reduced sperm motility, Proteinuria, Elevated circulating creatinine concentration, Hyperuricemia... OMIM:137920
Proteinuria, Chronic Benign
Albuminuria, Proteinuria OMIM:618884
Attrv30M Amyloidosis
Abnormal renal physiology, Weight loss, Impotence, Nephropathy ORPHA:85447
Mitochondrial Membrane Protein-Associated Neurodegeneration
Urinary incontinence, Bowel incontinence ORPHA:289560
Wieacker-Wolff Syndrome, Female-Restricted
Flexion contracture, Achilles tendon contracture, Urinary incontinence, Facial palsy, Hip contrac... OMIM:301041
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abnormality of the extraocular muscles, Decreased muscle mass, Abdominal pain, Hypergonadotropic ... ORPHA:298
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Hypochromic microcytic anemia, Mild proteinuria, Increased serum pyruvate, Hypothyroidism, Hypera... OMIM:619147
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Ureteral atresia, Hydronephrosis, Abnormality of the diaphragm OMIM:183802
Oligomeganephronia
Decreased numbers of nephrons, Elevated circulating creatinine concentration, Unilateral renal ag... ORPHA:2260
Glycogen Storage Disease, Type Ixd
Elevated circulating creatine kinase concentration, Exercise-induced myalgia, Exercise-induced my... OMIM:300559
Sandhoff Disease
Hypohidrosis, Macroglossia, Impotence, Urinary incontinence, Hyperhidrosis, Skeletal muscle atrop... OMIM:268800
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss, Abdominal pain OMIM:613662
Cystinosis
Hypophosphatemia, Fatigue, Hypothyroidism, Aminoaciduria, Nephropathy, Hypokalemia, Failure to th... ORPHA:213
19Q13.11 Microdeletion Syndrome
Cryptorchidism, Bifid scrotum, Cachexia, Failure to thrive, Hypospadias ORPHA:217346
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Cryptorchidism, Renal hypoplasia, Recurrent otitis media, Hydronephrosis, Renal agenesis OMIM:618494
Ring Chromosome 10 Syndrome
Renal hypoplasia/aplasia, Cachexia, Hypocalcemia ORPHA:1438
Schimke Immuno-Osseous Dysplasia
Focal segmental glomerulosclerosis, Nephrotic range proteinuria, Abnormal proportion of naive CD4... ORPHA:1830
Immunoneurologic Disorder, X-Linked
Functional abnormality of the bladder OMIM:300076
Insulin-Resistance Syndrome Type B
Skin rash, Hypotriglyceridemia, Enlarged ovaries, Abnormality of body weight, Pneumonia, Abnormal... ORPHA:2298
Diabetes Insipidus, Neurohypophyseal Type
Hypokalemia, Polyuria, Hydronephrosis OMIM:304900
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Pustule, Acute kidney injury, Superficial dermal perivascular inflammatory infiltrate, Exercise-i... ORPHA:284426
Papillorenal Syndrome
Horseshoe kidney, Renal malrotation, Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureter... OMIM:120330
Familial Mediterranean Fever
Peritonitis, Arthralgia, Pericarditis, Renal amyloidosis, Abdominal pain, Leukocytosis, Myalgia, ... OMIM:249100
Galloway-Mowat Syndrome 4
Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Diffuse mesangial scler... OMIM:617730
Glycogen Storage Disease Vii
Increased muscle glycogen content, Increased total bilirubin, Hemolytic anemia, Reticulocytosis, ... OMIM:232800
Diverticulosis Of Bowel, Hernia, And Retinal Detachment
Bladder diverticulum OMIM:223330
Sarcoidosis
Bronchiectasis, Maculopapular exanthema, Weight loss, Hypercalciuria, Hypercalcemia, Leukopenia, ... ORPHA:797
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Hyperuricemia,... OMIM:613092
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Flexion contracture, Decreased body weight, Urinary incontinence, Bowel incontinence, Skeletal mu... OMIM:300243
Kindler Epidermolysis Bullosa
Inflammation of the large intestine, Esophagitis, Camptodactyly of finger, Periodontitis, Flexion... ORPHA:2908
Diffuse Alveolar Hemorrhage
Hematuria, Leukocytosis, Elevated circulating creatinine concentration, Weight loss, Thrombocytop... ORPHA:90060
Idiopathic Achalasia
Recurrent aspiration pneumonia, Weight loss, Decreased prealbumin level, Chest pain ORPHA:930
Systemic Capillary Leak Syndrome
Abnormal renal tubule morphology, Pericarditis, Abdominal pain, Leukocytosis, Weight loss, Oligur... ORPHA:188
Floating-Harbor Syndrome
Cryptorchidism, Recurrent otitis media, Epididymal cyst, Hydronephrosis, Congenital posterior ure... OMIM:136140
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Urogenital sinus anomaly, Hydroureter, Multicystic kidney dysplasia, Abnormal internal genitalia,... ORPHA:2973
6P22 Microdeletion Syndrome
Hydronephrosis ORPHA:251046
Renal Glucosuria
Glycosuria, Polyuria, Enuresis nocturna OMIM:233100
Dyskeratosis Congenita
Abnormal morphology of female internal genitalia, Abnormal testis morphology, Abnormality of neut... ORPHA:1775
Transcobalamin Deficiency
Acute kidney injury, Lymphopenia, Neutropenia, Thrombocytopenia, Pancytopenia, Methylmalonic acid... ORPHA:859
Mcdonough Syndrome
Aplasia/Hypoplasia of the abdominal wall musculature, Cryptorchidism, Cachexia ORPHA:2471
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Urinary incontinence OMIM:125310
Dyschondrosteosis And Nephritis
Nephritis OMIM:127350
Hemorrhagic Fever-Renal Syndrome
Abnormal renal tubule morphology, Arthralgia, Hypoproteinemia, Abdominal pain, Leukocytosis, Thro... ORPHA:340
Joubert Syndrome 35
Renal fibrosis, Recurrent urinary tract infections, Hydronephrosis, Multicystic kidney dysplasia OMIM:618161
Central Diabetes Insipidus
Nocturia, Failure to thrive, Hyponatremia, Weight loss ORPHA:178029
Frontometaphyseal Dysplasia
Ureteral obstruction, Camptodactyly of finger, Shoulder muscle hypoplasia, Urethral stenosis, Int... ORPHA:1826
Riboflavin Transporter Deficiency