Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Trpv4 MGI:1926945

Registered for phenotyping at IMPC

Phenotyping is planned for a knockout strain of this gene but data is not currently available.

Gene Summary

Name:

transient receptor potential cation channel, subfamily V, member 4

Synonyms:

VR-OAC, OTRPC4, Trp12, VRL-2, 0610033B08Rik, VROAC

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

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.

Phenotype associated images not available

Human diseases caused by Trpv4 mutations

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

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

Human diseases associated with Trpv4 (16 diseases)
Human diseases predicted to be associated with Trpv4 (448 diseases)

The table below shows human diseases associated to Trpv4 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Hereditary Motor And Sensory Neuropathy, Type Iic	Urinary urgency, Urinary incontinence	OMIM:606071
Familial Avascular Necrosis Of Femoral Head	Hip pain, Impairment of activities of daily living, Groin pain	ORPHA:86820
Metatropic Dysplasia	Cataract	ORPHA:2635
Scapuloperoneal Spinal Muscular Atrophy	Torticollis, Facial palsy	OMIM:181405
Metatropic Dysplasia	Respiratory failure, Respiratory insufficiency	OMIM:156530
Brachyolmia Type 3		OMIM:113500
Digital Arthropathy-Brachydactyly, Familial		OMIM:606835
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8		OMIM:600175
Spondylometaphyseal Dysplasia, Kozlowski Type		OMIM:184252
Avascular Necrosis Of Femoral Head, Primary, 2		OMIM:617383
Spondyloepiphyseal Dysplasia, Maroteaux Type		OMIM:184095
Familial Digital Arthropathy-Brachydactyly		ORPHA:85169
Spondylometaphyseal Dysplasia, Kozlowski Type		ORPHA:93314
Autosomal Dominant Brachyolmia		ORPHA:93304
Parastremmatic Dwarfism		OMIM:168400
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy		ORPHA:1216

The table below shows human diseases predicted to be associated to Trpv4 by phenotypic similarity.

Disease	Matching phenotypes	Source
Auditory Neuropathy, Autosomal Dominant 1	Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn...	OMIM:609129
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex	OMIM:601071
Enuresis, Nocturnal, 1	Enuresis nocturna	OMIM:600631
Enuresis, Nocturnal, 2	Enuresis nocturna	OMIM:600808
Deafness, Autosomal Recessive 104	Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Abnormal vestib...	OMIM:616515
Spastic Paraplegia 13, Autosomal Dominant	Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence	OMIM:605280
Spastic Paraplegia 19, Autosomal Dominant	Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence	OMIM:607152
Spastic Paraplegia 12, Autosomal Dominant	Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence	OMIM:604805
Spastic Paraplegia 41, Autosomal Dominant	Urinary urgency	OMIM:613364
Spastic Paraplegia 37, Autosomal Dominant	Urinary urgency, Urinary incontinence	OMIM:611945
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency	Urinary bladder sphincter dysfunction	ORPHA:284282
Spastic Paraplegia 8, Autosomal Dominant	Urinary urgency, Low back pain, Urinary bladder sphincter dysfunction, Urinary incontinence	OMIM:603563
Autosomal Recessive Frontotemporal Pachygyria	Pachygyria, Urinary incontinence	ORPHA:329329
Autosomal Dominant Spastic Paraplegia Type 13	Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence	ORPHA:100994
Spastic Paraplegia 27, Autosomal Recessive	Spastic/hyperactive bladder	OMIM:609041
X-Linked Spastic Paraplegia Type 16	Functional abnormality of the bladder	ORPHA:100997
Spastic Paraplegia 36, Autosomal Dominant	Urinary urgency, Urinary incontinence	OMIM:613096
Spastic Paraplegia 6, Autosomal Dominant	Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence	OMIM:600363
Lower Urinary Tract Obstruction, Congenital	Urinary incontinence, Urethral stenosis, Pollakisuria, Congenital posterior urethral valve, Vesic...	OMIM:618612
Non-Syndromic Genetic Deafness	Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i...	ORPHA:87884
Spastic Paraplegia 3, Autosomal Dominant	Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence	OMIM:182600
Spastic Paraplegia, Ataxia, And Mental Retardation	Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence	OMIM:607565
Spastic Paraplegia 83, Autosomal Recessive	Urinary urgency, Myalgia	OMIM:619027
Siddiqi Syndrome	Urinary incontinence	OMIM:618635
Hydrocephalus, Normal-Pressure, 1	Urinary incontinence, Bowel incontinence	OMIM:236690
Multiple Sclerosis, Susceptibility To	Urinary hesitancy, Urinary incontinence	OMIM:126200
Autosomal Recessive Spastic Paraplegia Type 27	Spastic/hyperactive bladder	ORPHA:101007
Spastic Paraplegia 4, Autosomal Dominant	Urinary urgency, Low back pain, Urinary bladder sphincter dysfunction, Urinary incontinence	OMIM:182601
Intellectual Developmental Disorder, X-Linked 29	Urinary incontinence	OMIM:300419
Ochoa Syndrome	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Bowel incontinence...	ORPHA:2704
Urofacial Syndrome 2	Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti...	OMIM:615112
Glutathionuria	Gray matter heterotopia, Urinary incontinence, Glutathionuria	OMIM:231950
Spastic Paraplegia 10, Autosomal Dominant	Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence	OMIM:604187
Autosomal Spastic Paraplegia Type 72	Pain, Urinary bladder sphincter dysfunction	ORPHA:401849
Autosomal Dominant Spastic Paraplegia Type 4	Urinary urgency, Urinary bladder sphincter dysfunction	ORPHA:100985
Spastic Paraplegia 16, X-Linked	Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence	OMIM:300266
Amyotrophic Dystonic Paraplegia	Urinary incontinence, Bowel incontinence	OMIM:105300
Cerebroretinal Microangiopathy With Calcifications And Cysts 3	Urinary incontinence	OMIM:620368
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye...	ORPHA:93110
Isolated Epispadias	Anteriorly displaced urethral meatus, Epispadias, Vesicoureteral reflux, Urinary incontinence	ORPHA:93928
Spastic Paraplegia 72, Autosomal Recessive	Urinary bladder sphincter dysfunction	OMIM:615625
Autosomal Recessive Spastic Paraplegia Type 48	Urinary bladder sphincter dysfunction, Urinary incontinence	ORPHA:306511
Autosomal Dominant Spastic Paraplegia Type 73	Urinary urgency, Urinary incontinence	ORPHA:444099
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials	OMIM:601382
Autosomal Dominant Spastic Paraplegia Type 6	Urinary incontinence	ORPHA:100988
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Pachygyria, Urinary incontinence	OMIM:620094
Autosomal Dominant Spastic Paraplegia Type 36	Urinary urgency, Urinary incontinence	ORPHA:320365
Spastic Paralysis, Infantile-Onset Ascending	Urinary incontinence	OMIM:607225
Autosomal Recessive Spastic Paraplegia Type 76	Functional abnormality of the bladder	ORPHA:488594
Optic Atrophy 8	Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor...	OMIM:616648
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Flank pain, Functional abnormality of the ...	ORPHA:93108
Hinman Syndrome	Renal insufficiency, Recurrent urinary tract infections, Bowel incontinence, Enuresis, Vesicouret...	ORPHA:84085
Spastic Paraplegia 29, Autosomal Dominant	Urinary urgency, Urinary hesitancy, Urinary incontinence, Nocturia	OMIM:609727
Adult Polyglucosan Body Disease	Neurogenic bladder, Urinary bladder sphincter dysfunction, Urinary incontinence	ORPHA:206583
Glaucoma 3, Primary Congenital, E	Corneal stromal edema, Megalocornea, Ocular hypertension	OMIM:617272
Interstitial Cystitis	Abnormality of the urethra, Urinary bladder inflammation, Functional abnormality of the bladder, ...	ORPHA:37202
Intellectual Developmental Disorder, Autosomal Recessive 70	Urinary incontinence	OMIM:618402
Spastic Paraplegia 76, Autosomal Recessive	Urinary incontinence	OMIM:616907
Fowler Urethral Sphincter Dysfunction Syndrome	Dysuria, Urinary retention, Abnormality of the urethra, Urinary incontinence	ORPHA:2795
Neuropathy, Hereditary Sensory And Autonomic, Type Iib	Urinary incontinence	OMIM:613115
Spastic Paraplegia 31, Autosomal Dominant	Urinary urgency	OMIM:610250
3-Methylglutaconic Aciduria Type 9	3-Methylglutaconic aciduria, Urinary incontinence	ORPHA:505216
Spastic Paraplegia 11, Autosomal Recessive	Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence	OMIM:604360
Spastic Paraplegia 48, Autosomal Recessive	Urinary incontinence	OMIM:613647
Autosomal Dominant Spastic Paraplegia Type 8	Urinary urgency, Urinary incontinence	ORPHA:100989
Adenine Phosphoribosyltransferase Deficiency	Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Abdominal colic, F...	ORPHA:976
Amyotrophic Lateral Sclerosis 5, Juvenile	Urinary incontinence	OMIM:602099
Spinocerebellar Ataxia 42	Urinary urgency, Urinary incontinence	OMIM:616795
Spastic Paraplegia 85, Autosomal Recessive	Urinary incontinence	OMIM:619686
Peroxisome Biogenesis Disorder 14B	Urinary incontinence	OMIM:614920
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Urinary urgency, Urinary incontinence	OMIM:612319
Vestibulocochlear Dysfunction, Progressive	Vestibular areflexia, Tinnitus, Progressive hearing impairment	OMIM:193005
Duplication Of Urethra	Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence...	ORPHA:237
3-Methylglutaconic Aciduria, Type Ix	3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Urinary incontinence	OMIM:617698
Childhood Disintegrative Disorder	Urinary incontinence, Bowel incontinence	ORPHA:168782
Perineural Cyst	Shoulder pain, Recurrent urinary tract infections, Low back pain, Urinary incontinence, Bowel inc...	ORPHA:65250
Charcot-Marie-Tooth Disease, Type 4B3	Urinary incontinence	OMIM:615284
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote...	ORPHA:320401
Deafness, Autosomal Recessive 103	Abnormal vestibular function, Sensorineural hearing impairment, Vestibular areflexia	OMIM:616042
Spinocerebellar Ataxia 48	Urinary incontinence	OMIM:618093
Neuronal Intranuclear Inclusion Disease	Urinary incontinence	OMIM:603472
Polyglucosan Body Neuropathy, Adult Form	Neurogenic bladder, Urinary incontinence	OMIM:263570
Unilateral Focal Polymicrogyria	Urinary incontinence	ORPHA:268947
Spastic Paraplegia 15, Autosomal Recessive	Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence, Bowel incontinence	OMIM:270700
Baralle-Macken Syndrome	Urinary incontinence	OMIM:619255
Metachromatic Leukodystrophy Due To Saposin B Deficiency	Urinary incontinence	OMIM:249900
Pure Autonomic Failure	Dysuria, Constitutional symptom, Urinary incontinence	ORPHA:441
3-Methylglutaconic Aciduria, Type I	3-Methylglutaconic aciduria, Urinary incontinence	OMIM:250950
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto...	OMIM:617519
Spastic Paraplegia 7, Autosomal Recessive	Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence	OMIM:607259
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome	Urinary urgency	OMIM:618878
Basal Ganglia Calcification, Idiopathic, 1	Urinary incontinence	OMIM:213600
Huntington Disease-Like 3	Urinary incontinence, Bowel incontinence	OMIM:604802
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Abnormal vestibular function, Generalized dystonia, Tremor, ...	ORPHA:52368
Orofaciodigital Syndrome Xviii	Urinary incontinence	OMIM:617927
Sandhoff Disease, Juvenile Form	Urinary incontinence	ORPHA:309162
Urofacial Syndrome 1	Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ...	OMIM:236730
Spastic Paraplegia 5A, Autosomal Recessive	Urinary incontinence	OMIM:270800
Immunoneurologic Disorder, X-Linked	Functional abnormality of the bladder	OMIM:300076
Paraparetic Variant Of Guillain-Barré Syndrome	Sciatica, Pain, Urinary bladder sphincter dysfunction	ORPHA:231445
Neural Tube Defects, Susceptibility To	Urinary incontinence	OMIM:182940
Syringomyelia, Noncommunicating Isolated	Urinary incontinence, Neck pain	OMIM:186700
Intellectual Developmental Disorder, X-Linked 90	Enuresis	OMIM:300850
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Urinary incontinence	OMIM:600795
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement	Sensorineural hearing impairment, Vestibular areflexia	OMIM:609006
Autosomal Dominant Spastic Paraplegia Type 12	Urinary urgency, Urinary incontinence, Bowel incontinence	ORPHA:100993
Microphthalmia, Isolated 6	Microcornea, Ocular hypertension	OMIM:613517
Charcot-Marie-Tooth Disease, Axonal, Type 2Z	Urinary incontinence	OMIM:616688
Spastic Paraplegia 46, Autosomal Recessive	Urinary incontinence	OMIM:614409
Neovascular Glaucoma	Corneal stromal edema, Iris neovascularization, Ocular hypertension	ORPHA:94058
Foix-Alajouanine Syndrome	Back pain, Low back pain, Neurogenic bladder, Urinary incontinence, Bowel incontinence, Functiona...	ORPHA:79093
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Iris hypoperfusion, Lens subluxation, Phakodonesi...	OMIM:177650
Weill-Marchesani Syndrome 3	Ectopia lentis, Ocular hypertension, Microspherophakia, Pulmonic stenosis, Aortic valve stenosis	OMIM:614819
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Urinary incontinence	OMIM:617145
Porphyria, Acute Intermittent	Dysuria, Urinary incontinence, Abdominal pain, Urinary retention, Elevated urinary delta-aminolev...	OMIM:176000
Primary Hyperoxaluria Type 3	Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri...	ORPHA:93600
Spinocerebellar Ataxia 17	Urinary incontinence	OMIM:607136
Autosomal Dominant Spastic Paraplegia Type 38	Urinary incontinence	ORPHA:171617
Ravine Syndrome	Abnormal auditory evoked potentials	ORPHA:99852
Autosomal Recessive Spastic Paraplegia Type 46	Urinary incontinence	ORPHA:320391
X-Linked Immunoneurologic Disorder	Functional abnormality of the bladder	ORPHA:2571
Familial Cold Urticaria	Pruritus, Polydipsia, Conjunctivitis, Dehydration	ORPHA:47045
Staphylococcal Necrotizing Pneumonia	Shock, Respiratory distress, Increased circulating procalcitonin concentration, Diabetes mellitus...	ORPHA:36238
Spastic Paraplegia 44, Autosomal Recessive	Urinary incontinence	OMIM:613206
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials	OMIM:125250
Spinocerebellar Ataxia Type 25	Urinary urgency, Episodic abdominal pain	ORPHA:101111
Camptobrachydactyly	Urinary incontinence	OMIM:114150
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline	Urinary incontinence, Bowel incontinence	OMIM:618868
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Urinary incontinence	ORPHA:464282
Huntington Disease-Like 3	Urinary incontinence, Bowel incontinence	ORPHA:157946
Spastic Paraplegia 89, Autosomal Recessive	Functional abnormality of the bladder	OMIM:620379
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Iris coloboma, Ocular hypertension	OMIM:610023
Pediatric-Onset Graves Disease	Hyperactivity, Atrial fibrillation, Keratitis, Congestive heart failure, Neonatal asphyxia, Thyro...	ORPHA:525731
Glaucoma 1, Primary Open Angle, C	Ocular hypertension	OMIM:601682
Paganini-Miozzo Syndrome	Urinary incontinence	OMIM:301025
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Urinary incontinence	OMIM:221770
Neuromyelitis Optica Spectrum Disorder	Ocular pain, Functional abnormality of the bladder, Recurrent singultus	ORPHA:71211
Abcd Syndrome	Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Heari...	OMIM:600501
Central Diabetes Insipidus	Polydipsia, Diabetes insipidus, Anorexia, Dehydration	ORPHA:178029
Spastic Paraplegia 9B, Autosomal Recessive	Urinary retention, Urinary incontinence	OMIM:616586
Wagro Syndrome	Cataract, Corneal opacity, Ocular hypertension, Aggressive behavior, Hypertension, Agitation, Com...	OMIM:612469
Myopathy, Myofibrillar, 7	Myalgia, Urinary incontinence, Bowel incontinence, Enuresis nocturna	OMIM:617114
Glaucoma 1, Open Angle, F	Ocular hypertension	OMIM:603383
Adrenoleukodystrophy	Urinary bladder sphincter dysfunction, Urinary incontinence, Bowel incontinence	OMIM:300100
Ketamine-Induced Biliary Dilatation	Dysuria, Abdominal pain	ORPHA:293807
Uveal Melanoma	Iris melanoma, Ocular hypertension, Inferior lens subluxation, Vitreous hemorrhage, Zonular catar...	ORPHA:39044
Parkinson Disease 6, Autosomal Recessive Early-Onset	Urinary urgency	OMIM:605909
Microcoria, Congenital	Microcoria, Hypoplasia of the iris dilator muscle, Ocular hypertension	OMIM:156600
Adult-Onset Distal Myopathy Due To Vcp Mutation	Back pain, Myalgia, Urinary incontinence, Bowel incontinence	ORPHA:329478
Acute Lung Injury	Shock, Respiratory distress, Pneumonia, Edema, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, H...	ORPHA:178320
Spinocerebellar Ataxia 10	Urinary urgency, Urinary incontinence	OMIM:603516
Renal Glucosuria	Glycosuria, Polyuria, Enuresis nocturna	OMIM:233100
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay	Urinary incontinence	ORPHA:98
Small Cell Carcinoma Of The Bladder	Hematuria, Recurrent urinary tract infections, Dysuria, Abdominal pain	ORPHA:284400
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension...	ORPHA:403
Spinocerebellar Ataxia Type 19/22	Urinary incontinence	ORPHA:98772
Cirrhotic Cardiomyopathy	Prolonged QT interval, Elevated jugular venous pressure, Left ventricular diastolic dysfunction, ...	ORPHA:57777
Hereditary Motor And Sensory Neuropathy, Type Iic	Urinary urgency, Urinary incontinence	OMIM:606071
Irvan Syndrome	Macular edema, Ocular hypertension	ORPHA:209943
Birdshot Chorioretinopathy	Cataract, Cystoid macular edema, Ocular hypertension	ORPHA:179
Acute Intermittent Porphyria	Dark urine, Back pain, Renal insufficiency, Dysuria, Urinary incontinence, Abdominal pain, Porphy...	ORPHA:79276
Methanol Poisoning	Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat...	ORPHA:31825
Chiari Malformation Type I	Urinary incontinence, Neck pain	OMIM:118420
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Low back pain, Urinary incontinence, Bowel incontinence	OMIM:600142
Type 1 Diabetes Mellitus	Polydipsia, Diabetes mellitus, Polyphagia	OMIM:222100
Mitochondrial Membrane Protein-Associated Neurodegeneration	Urinary incontinence, Bowel incontinence	ORPHA:289560
Posterior Column Ataxia With Retinitis Pigmentosa	Recurrent urinary tract infections, Urinary incontinence	OMIM:609033
Spastic Paraplegia 54, Autosomal Recessive	Urinary incontinence, Bowel incontinence	OMIM:615033
Brain-Lung-Thyroid Syndrome	Respiratory distress, Thyroid dysgenesis, Hyperactivity, Neonatal respiratory distress, Hypoparat...	ORPHA:209905
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial...	OMIM:601596
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy	OMIM:616881
Charcot-Marie-Tooth Disease, Type 4D	Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p...	OMIM:601455
Cystinosis	Corneal opacity, Portal hypertension, Nephrogenic diabetes insipidus, Hypothyroidism, Dehydration...	ORPHA:213
Autosomal Recessive Spastic Paraplegia Type 77	Neurogenic bladder, Detrusor sphincter dyssynergia, Urinary incontinence	ORPHA:466722
Kleine-Levin Syndrome	Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio...	ORPHA:33543
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Ocular hypertension, Uveal ectropion, Abnormal Desc...	ORPHA:98973
Sandhoff Disease	Exaggerated startle response, Urinary incontinence, Episodic abdominal pain	OMIM:268800
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Polymicrogyria, Urinary incontinence, Bowel incontinence	OMIM:618877
Indifference To Pain, Congenital, Autosomal Recessive	Urinary incontinence	OMIM:243000
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Spastic Paraplegia 30, Autosomal Dominant	Urinary bladder sphincter dysfunction	OMIM:610357
Adrenomyeloneuropathy	Back pain, Fatigue, Urinary incontinence, Bowel incontinence, Urinary urgency, Urinary retention,...	ORPHA:139399
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Urinary incontinence	OMIM:604320
Marchiafava-Bignami Disease	Urinary incontinence	ORPHA:221074
Autosomal Dominant Spastic Paraplegia Type 9A	Low back pain, Urinary incontinence, Urinary urgency, Pollakisuria, Lower limb pain	ORPHA:447753
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal...	ORPHA:251274
Spinocerebellar Ataxia Type 13	Urinary urgency, Urinary incontinence	ORPHA:98768
Fragile X Tremor/Ataxia Syndrome	Myalgia, Urinary incontinence, Bowel incontinence	OMIM:300623
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia...	OMIM:603860
Spinocerebellar Ataxia 2	Urinary bladder sphincter dysfunction, Urinary incontinence	OMIM:183090
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Ocular hypertension, Microcornea, Anterior synechiae of ...	OMIM:269400
Neuropathy, Hereditary Sensory And Autonomic, Type V	Low back pain, Urinary incontinence	OMIM:608654
Idiopathic Uveal Effusion Syndrome	Abnormal intraocular pressure	ORPHA:209956
Spinocerebellar Ataxia Type 42	Urinary urgency, Urinary incontinence	ORPHA:458803
Hereditary Central Diabetes Insipidus	Polydipsia, Diabetes insipidus	ORPHA:30925
Autosomal Dominant Centronuclear Myopathy	Exercise-induced myalgia, Urinary incontinence	ORPHA:169189
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Head titubation, Absent brainstem auditory responses, Vestibular areflexia, Dystonia	ORPHA:3240
Spastic Paraplegia 9A, Autosomal Dominant	Urinary urgency, Urinary incontinence	OMIM:601162
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Urinary incontinence	OMIM:620070
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Abnormal vestibulo-ocular reflex, Urinary incontinence	ORPHA:247234
Wieacker-Wolff Syndrome, Female-Restricted	Urinary incontinence	OMIM:301041
Nephronophthisis-Like Nephropathy 2	Polydipsia, Bronchiectasis, Cough	OMIM:619468
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Enuresis	OMIM:613670
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy	Urinary urgency	ORPHA:314603
1P31P32 Microdeletion Syndrome	Intraventricular hemorrhage, Attention deficit hyperactivity disorder, Compulsive behaviors, Ocul...	ORPHA:401986
Autosomal Dominant Optic Atrophy Plus Syndrome	Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment...	ORPHA:1215
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Urinary incontinence	ORPHA:98784
Huntington Disease	Aggressive behavior, Oral-pharyngeal dysphagia, Addictive alcohol use, Agitation, Compulsive beha...	ORPHA:399
Encephalitis Lethargica	Limb pain, Myalgia, Urinary incontinence, Bowel incontinence	ORPHA:83600
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension...	ORPHA:369929
Spastic Paraplegia 80, Autosomal Dominant	Urinary urgency	OMIM:618418
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Stress urinary incontinence	ORPHA:136
Childhood Absence Epilepsy	Urinary incontinence	ORPHA:64280
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1	Urinary incontinence	OMIM:125310
Nephrogenic Diabetes Insipidus	Hypernatremic dehydration, Polyhydramnios, Anorexia, Nephrogenic diabetes insipidus, Hypovolemia,...	ORPHA:223
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type	Urinary incontinence, Bowel incontinence	OMIM:300243
Bardet-Biedl Syndrome 9	Polydipsia, Astigmatism, Polyphagia, Cataract	OMIM:615986
Whipple Disease	Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Anorexia, Myocarditis, Respirat...	ORPHA:3452
Primary Unilateral Adrenal Hyperplasia	Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertensi...	ORPHA:231580
Exstrophy-Epispadias Complex	Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the kidney, Epispadias...	ORPHA:322
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypothyroidism, Hypertensio...	ORPHA:90065
Cog5-Cdg	Neurogenic bladder, Micropenis, Urinary incontinence	ORPHA:263487
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Ocular hypertension, Microcornea, Posterior synechiae of...	OMIM:610256
Congenital Disorder Of Glycosylation, Type Iit	Urinary incontinence	OMIM:618885
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity	Urinary incontinence	ORPHA:352641
Trigeminal Neuralgia	Trigeminal neuralgia, Ocular pain, Mandibular pain, Allodynia	ORPHA:221091
Spinal Arteriovenous Metameric Syndrome	Fatigue, Abnormality of the kidney, Bone pain, Arthralgia, Gangrene, Urinary bladder sphincter dy...	ORPHA:53721
Macrophthalmia, Colobomatous, With Microcornea	Microcornea, Flat cornea, Iris coloboma, Ocular hypertension	OMIM:602499
Congenital Microcoria	Ocular hypertension, Developmental cataract, Corneal stromal edema, Iris transillumination defect...	ORPHA:566
Autosomal Dominant Spastic Paraplegia Type 41	Urinary urgency	ORPHA:320355
Autosomal Recessive Ataxia, Beauce Type	Urinary incontinence	ORPHA:88644
Weill-Marchesani Syndrome 4	Iridodonesis, Ectopia lentis, Ocular hypertension, Posterior synechiae of the anterior chamber, P...	OMIM:613195
Panhypophysitis	Decreased serum testosterone concentration, Decreased circulating cortisol level, Orthostatic hyp...	ORPHA:95513
Senior-Loken Syndrome 3	Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis	OMIM:606995
Autosomal Dominant Spastic Paraplegia Type 37	Urinary urgency, Fatigue	ORPHA:171612
Roussy-Lévy Syndrome	Urinary bladder sphincter dysfunction	ORPHA:3115
Anterior Cutaneous Nerve Entrapment Syndrome	Back pain, Recurrent urinary tract infections, Allodynia, Abdominal pain	ORPHA:51890
Primary Progressive Freezing Gait	Urinary incontinence	ORPHA:75567
Hyperaldosteronism, Familial, Type Iii	Adrenal hyperplasia, Hypertension, Hyperaldosteronism, Polydipsia, Decreased circulating renin level	OMIM:613677
Spinocerebellar Ataxia Type 8	Urinary incontinence	ORPHA:98760
Senior-Loken Syndrome 4	Polydipsia	OMIM:606996
Juvenile Amyotrophic Lateral Sclerosis	Urinary incontinence	ORPHA:300605
Amyotrophic Lateral Sclerosis 2, Juvenile	Urinary incontinence	OMIM:205100
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:109120
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Neurogenic bladder, Urinary incontinence, Bowel incontinence	ORPHA:496641
Amyloidosis, Hereditary, Transthyretin-Related	Urinary incontinence	OMIM:105210
Autosomal Dominant Spastic Paraplegia Type 3	Urinary urgency	ORPHA:100984
Autosomal Recessive Spastic Paraplegia Type 35	Pollakisuria, Urinary incontinence, Bowel incontinence, Enuresis nocturna	ORPHA:171629
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Urinary incontinence, Bowel incontinence	OMIM:617193
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Urinary incontinence, Bowel incontinence	OMIM:616482
Complex Regional Pain Syndrome	Limb pain, Allodynia	ORPHA:83452
Arachnoid Cyst	Back pain, Urinary incontinence, Abdominal pain, Urinary bladder sphincter dysfunction, Sciatica,...	ORPHA:2356
Multiple System Atrophy 1, Susceptibility To	Urinary urgency, Urinary incontinence	OMIM:146500
Adult Krabbe Disease	Urinary incontinence	ORPHA:206448
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Abnormal auditory evoked potentials	OMIM:617523
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Band keratopathy, Ocular hypertension, Hypoplasia of the iris, Anterior synechiae of the anterior...	OMIM:614195
Metachromatic Leukodystrophy	Urinary incontinence	OMIM:250100
Glaucoma, Primary Closed-Angle	Anterior synechiae of the anterior chamber, Ocular hypertension	OMIM:618880
Sporadic Infantile Bilateral Striatal Necrosis	Urinary incontinence	ORPHA:225147
Primary Hyperoxaluria Type 1	Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 chronic kidn...	ORPHA:93598
Spastic Paraplegia Type 2	Spastic/hyperactive bladder, Bowel incontinence	ORPHA:99015
Pandas	Enuresis, Encopresis, Arthralgia	ORPHA:66624
Familial Renal Glucosuria	Recurrent urinary tract infections, Renal tubular dysfunction, Enuresis, Glycosuria, Nephropathy	ORPHA:69076
Dural Sinus Malformation	Cerebral hemorrhage, Ocular hypertension, Subarachnoid hemorrhage, Cerebellar hemorrhage, Subdura...	ORPHA:97339
Arachnoiditis	Fatigue, Urinary bladder sphincter dysfunction, Arthralgia	ORPHA:137817
Phacoanaphylactic Uveitis	Ocular hypertension, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium morpholog...	ORPHA:209959
Xq28 (MECP2) duplication	Functional abnormality of the bladder	DECIPHER:45
Autosomal Recessive Spastic Paraplegia Type 15	Functional abnormality of the bladder	ORPHA:100996
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:619260
Currarino Syndrome	Recurrent urinary tract infections, Neurogenic bladder, Urinary incontinence, Horseshoe kidney, V...	OMIM:176450
Late-Infantile/Juvenile Krabbe Disease	Tremor, Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, EEG ...	ORPHA:206443
Apparent Mineralocorticoid Excess	Hypertension, Abnormality of circulating cortisol level, Polydipsia, Decreased circulating aldost...	ORPHA:320
Charcot-Marie-Tooth Disease Type 1F	Urinary incontinence	ORPHA:101085
Idiopathic Panuveitis	Cataract, Ocular hypertension, Posterior synechiae of the anterior chamber, Conjunctival hyperemi...	ORPHA:280921
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Renal insufficiency, Dysuria, Hyperuricosuria, Macroscopic hematuria, Nephropathy, Acute kidney i...	ORPHA:79233
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Polydipsia, Diabetes insipidus, Hypertonic dehydration	OMIM:304800
Epilepsy, Progressive Myoclonic, 10	Urinary incontinence	OMIM:616640
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Nephrogenic diabetes insipidus, Polydipsia, Hypertonic dehydration	OMIM:125800
Intellectual Developmental Disorder, X-Linked 98	Steroid-dependent nephrotic syndrome, Urinary incontinence	OMIM:300912
Fuchs Heterochromic Iridocyclitis	Iris atrophy, Cataract, Ocular hypertension, Anisocoria, Posterior synechiae of the anterior cham...	ORPHA:263479
Metachromatic Leukodystrophy, Late Infantile Form	Urinary incontinence	ORPHA:309256
Adult-Onset Autosomal Dominant Leukodystrophy	Orthostatic hypotension, EEG with generalized slow activity, Upper limb postural tremor, Abnormal...	ORPHA:99027
Metachromatic Leukodystrophy	Urinary incontinence, Bowel incontinence, Limb pain, Impaired continence, Pain	ORPHA:512
Metachromatic Leukodystrophy, Juvenile Form	Urinary incontinence	ORPHA:309263
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Urinary incontinence	ORPHA:476126
Gitelman Syndrome	Proteinuria, Urinary incontinence, Decreased urinary potassium, Abdominal pain, Tubulointerstitia...	ORPHA:358
Erdheim-Chester Disease	Skin rash, Hypogonadotropic hypogonadism, Dyspnea, Congestive heart failure, Pleural effusion, Jo...	ORPHA:35687
Split Cord Malformation	Back pain, Low back pain, Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphinct...	ORPHA:573278
Amelogenesis Imperfecta, Type Ig	Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis	OMIM:204690
Spastic Paraplegia 78, Autosomal Recessive	Urinary urgency	OMIM:617225
Metachromatic Leukodystrophy, Adult Form	Urinary incontinence, Bowel incontinence	ORPHA:309271
Spastic Paraplegia Type 7	Urinary urgency, Lower limb pain	ORPHA:99013
Isolated Osteopoikilosis	Discoid lupus rash, Addictive alcohol use, Abnormality of the endocrine system	ORPHA:166119
Neuroleptic Malignant Syndrome	Fatigue, Rigors, Proteinuria, Urinary incontinence, Myoglobinuria, Acute kidney injury	ORPHA:94093
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Tachypn...	ORPHA:31826
East Syndrome	Polydipsia, Salt craving, Increased circulating renin level, Hyperaldosteronism	ORPHA:199343
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia	Urinary urgency, Simplified gyral pattern	OMIM:619286
Acquired Central Diabetes Insipidus	Polydipsia, Diabetes insipidus	ORPHA:95626
Autosomal Dominant Spastic Paraplegia Type 19	Urinary urgency	ORPHA:100999
Spinocerebellar Ataxia 25	Urinary urgency	OMIM:608703
Wolfram Syndrome	Gastrointestinal hemorrhage, Central apnea, Diabetes mellitus, Respiratory insufficiency, Cardiom...	ORPHA:3463
Arnold-Chiari Malformation Type I	Urinary incontinence, Neck pain	ORPHA:268882
Neurotrophic Keratopathy	Diabetes mellitus, Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosio...	ORPHA:137596
Hyperostosis Cranialis Interna	Ocular hypertension	OMIM:144755
Glycogen Storage Disease Ii	Exercise intolerance, Urinary incontinence	OMIM:232300
Spastic Ataxia 3, Autosomal Recessive	Urinary urgency, Neurogenic bladder	OMIM:611390
Anterior Segment Dysgenesis 1	Microcornea, Posterior polar cataract, Opacification of the corneal stroma, Ocular hypertension	OMIM:107250
Chronic Bilirubin Encephalopathy	Sensorineural hearing impairment, Abnormal auditory evoked potentials	ORPHA:529808
Acute Bilirubin Encephalopathy	Sensorineural hearing impairment, Abnormal auditory evoked potentials	ORPHA:529799
Renal Hypoplasia	Hypertension, Polydipsia, Dehydration	ORPHA:93101
Acute Transverse Myelitis	Back pain, Fatigue, Urinary incontinence, Urinary retention, Urinary bladder sphincter dysfunction	ORPHA:139417
Oculoauricular Syndrome	Cataract, Sclerocornea, Ocular hypertension, Developmental cataract, Microcornea, Iris cyst, Post...	OMIM:612109
Herpes Simplex Virus Encephalitis	Respiratory failure requiring assisted ventilation, Addictive alcohol use, Cerebral edema	ORPHA:1930
Benign Schwannoma	Facial palsy, Hearing abnormality, Vertigo, Abnormality of the twelfth cranial nerve, Vestibular ...	ORPHA:252164
Musculocontractural Ehlers-Danlos Syndrome	Pneumothorax, Astigmatism, Recurrent skin infections, Ocular hypertension	ORPHA:2953
Acute Promyelocytic Leukemia	Epistaxis, Anorexia, Diffuse alveolar hemorrhage, Productive cough, Addictive alcohol use, Exerti...	ORPHA:520
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Exaggerated startle response, Hypospadias, Urinary incontinence, Renal agenes...	OMIM:619522
Hyperparathyroidism, Neonatal Severe	Dyspnea, Primary hyperparathyroidism, Tachypnea, Elevated circulating parathyroid hormone level, ...	OMIM:239200
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Iris atrophy, Cataract, Ocular hypertension, Ectopia lentis, Spherophakia, Anterior synechiae of ...	OMIM:601552
Gitelman Syndrome	Prolonged QT interval, Salt craving, Ventricular tachycardia, Increased circulating renin level, ...	OMIM:263800
Infantile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph...	ORPHA:206436
Rabson-Mendenhall Syndrome	Increased pineal volume, Precocious puberty, Insulin-resistant diabetes mellitus, Fasting hyperin...	ORPHA:769
Malakoplakia	Proteinuria, Dysuria, Abdominal pain, Urinary bladder inflammation, Urinary urgency, Hematuria, C...	ORPHA:556
Juvenile Glaucoma	Abnormality iris morphology, Ocular hypertension	ORPHA:98977
Septo-Optic Dysplasia Spectrum	Anterior pituitary hypoplasia, Maternal diabetes, Polydipsia, Abnormality of the hypothalamus-pit...	ORPHA:3157
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Salt craving, Hypertension, Hyperaldosteronism, Increased circulating renin level, Polydipsia	OMIM:612780
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Urinary incontinence	ORPHA:314404
Hereditary Amyloidosis With Primary Renal Involvement	Dyspepsia, Renal insufficiency, Proteinuria, Abdominal pain, Renal interstitial amyloid deposits,...	ORPHA:85450
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Respiratory distress, Sudden cardiac death, Cough, Corneal erosion, ...	ORPHA:537
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Fatigue, Urinary incontinence	ORPHA:466768
Arthrogryposis, Distal, Type 2A	Abnormal auditory evoked potentials, Hearing impairment	OMIM:193700
Bardet-Biedl Syndrome 17	Polydipsia, Hypogonadism	OMIM:615994
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Diabetes mellitus, Portal hypertension, Ocular hypertension, Elevated circulating thyroid-stimula...	OMIM:610199
Spastic Paraplegia 26, Autosomal Recessive	Urinary urgency	OMIM:609195
Senior-Boichis Syndrome	Portal hypertension, Aggressive behavior, Hypertension, Agitation, Attention deficit hyperactivit...	ORPHA:84081
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Short-segment aganglioni...	OMIM:609136
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Urinary urgency	OMIM:601338
Adnp Syndrome	Recurrent urinary tract infections, Urinary incontinence	ORPHA:404448
Pituitary Dermoid And Epidermoid Cysts	Enlarged pituitary gland, Neoplasm of the anterior pituitary, Panhypopituitarism, Hypogonadism, H...	ORPHA:91351
Cockayne Syndrome	Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen...	ORPHA:191
Intellectual Developmental Disorder, Autosomal Dominant 68	Urinary incontinence	OMIM:619934
Nephronophthisis 1	Hypertension, Polydipsia	OMIM:256100
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Tremor, Optic atrophy, Macrotia, Abnormality of peripheral n...	ORPHA:90321
Cln3 Disease	Urinary bladder sphincter dysfunction	ORPHA:228346
Teratoma, Pineal	Polydipsia	OMIM:273120
Glaucoma 3, Primary Congenital, A	Ocular hypertension	OMIM:231300
Secondary Non-Traumatic Avascular Necrosis	Addictive alcohol use	ORPHA:399180
Enamel-Renal Syndrome	Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En...	ORPHA:1031
Oligomeganephronia	Hypertension, Polydipsia, Dehydration	ORPHA:2260
Nephronophthisis 11	Anisocoria, Polydipsia	OMIM:613550
Porphyria Cutanea Tarda	Recurrent bacterial skin infections, Diabetes mellitus, Corneal scarring, Addictive alcohol use, ...	ORPHA:101330
Sympathetic Ophthalmia	Cataract, Ocular hypertension, Retinal hemorrhage, Macular edema, Posterior synechiae of the ante...	ORPHA:79098
Infantile Nephropathic Cystinosis	Abnormality of thyroid physiology, Dehydration, Abnormal cornea morphology, Corneal crystals, Pol...	ORPHA:411629
Late-Onset Retinal Degeneration	Iris atrophy, Iris transillumination defect, Ocular hypertension	ORPHA:67042
Distal Deletion 10Q	Functional abnormality of the bladder, Horseshoe kidney, Enuresis, Vesicoureteral reflux, Acute k...	ORPHA:96148
Autosomal Dominant Spastic Paraplegia Type 10	Urinary urgency, Spastic/hyperactive bladder	ORPHA:100991
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Hip pain, Urinary bladder sphincter dysfunction	ORPHA:52430
Juvenile Nephropathic Cystinosis	Hypovolemia, Dehydration, Abnormal cornea morphology, Corneal crystals, Polydipsia, Hypothyroidism	ORPHA:411634
Tubulointerstitial Nephritis And Uveitis Syndrome	Cataract, Skin rash, Anorexia, Ocular hypertension, Macular edema, Vitreous hemorrhage, Posterior...	ORPHA:91500
Mogs-Cdg	Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Dystonia	ORPHA:79330
Meningioma	Back pain, Ear pain, Urinary incontinence, Trigeminal neuralgia	ORPHA:2495
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Urinary incontinence	OMIM:619482
Blepharophimosis-Impaired Intellectual Development Syndrome	Enuresis, Recurrent urinary tract infections, Hypospadias	OMIM:619293
Kufor-Rakeb Syndrome	Fatigue, Urinary incontinence, Bowel incontinence	ORPHA:306674
Alexander Disease Type Ii	Urinary bladder sphincter dysfunction	ORPHA:363722
Pudendal Neuralgia	Back pain, Abdominal colic, Dysuria, Vulvodynia, Episodic abdominal pain, Pollakisuria, Scrotal p...	ORPHA:60039
Urachal Cyst	Dysuria, Abdominal pain, Pyuria, Urachus fistula, Hematuria, Chills	ORPHA:488
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Urinary incontinence	ORPHA:447997
Nail-Patella Syndrome	Lester's sign, Abnormal iris pigmentation, Antecubital pterygium, Ocular hypertension	ORPHA:2614
Spastic Paraplegia 84, Autosomal Recessive	Urinary urgency	OMIM:619621
Congenital-Onset Steinert Myotonic Dystrophy	Enuresis, Encopresis, Abdominal pain	ORPHA:589821
Spastic Paraplegia 20, Autosomal Recessive	Urinary urgency	OMIM:275900
Hyperparathyroidism-Jaw Tumor Syndrome	Shortened QT interval, Primary hyperparathyroidism, Abnormal parathyroid morphology, Elevated cir...	ORPHA:99880
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hypoventilation, Central hypoventilation, Decreased response to growth hormone stimulation test, ...	ORPHA:293987
Parathyroid Carcinoma	Shortened QT interval, Primary hyperparathyroidism, Abnormal parathyroid morphology, Elevated cir...	ORPHA:143
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Spastic/hyperactive bladder	ORPHA:137898
Spinocerebellar Ataxia, Autosomal Recessive 7	Urinary urgency	OMIM:609270
X-Linked Adrenoleukodystrophy	Neurogenic bladder, Urinary bladder sphincter dysfunction	ORPHA:43
Helix Syndrome	Polydipsia, Hyperparathyroidism, Xerostomia	OMIM:617671
Hypomagnesemia 3, Renal	Polydipsia, Astigmatism, Elevated circulating parathyroid hormone level	OMIM:248250
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Polyhydramnios, Edema, Hydrops fetalis, Hyperaldosteronism, Polydipsia	OMIM:602522
Cerebrotendinous Xanthomatosis	Resting tremor, Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreas...	ORPHA:909
Trisomy 10P	Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnorm...	ORPHA:171929
Intellectual Disability-Alacrima-Achalasia Syndrome	Enuresis	ORPHA:289483
Friedreich Ataxia	Urinary bladder sphincter dysfunction, Impaired visually enhanced vestibulo-ocular reflex	ORPHA:95
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Tubulointerstitial nephritis, Enuresis, Abnormality of the kidney	ORPHA:459061
Nephronophthisis 4	Polydipsia	OMIM:606966
Okamoto Syndrome	Unilateral renal hypoplasia, Ureteropelvic junction obstruction, Urinary incontinence, Hydronephr...	ORPHA:2729
Combined Oxidative Phosphorylation Deficiency 55	Stage 3 chronic kidney disease, Enuresis, Renal Fanconi syndrome, Proximal tubulopathy, Organic a...	OMIM:619743
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Abnormal circulating osteocalcin level, Ocular hypertension	ORPHA:93315
Cystinosis, Nephropathic	Diabetes mellitus, Oral-pharyngeal dysphagia, Corneal crystals, Dehydration, Recurrent corneal er...	OMIM:219800
Machado-Joseph Disease	Urinary bladder sphincter dysfunction, Chronic pain	OMIM:109150
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Hypoventilation, Spontaneous pneumothorax, Portal hypertension, Recu...	ORPHA:731
Spinocerebellar Ataxia Type 10	Urinary urgency	ORPHA:98761
Proximal Renal Tubular Acidosis	Cataract, Band keratopathy, Hypovolemia, Dehydration, Polydipsia	ORPHA:47159
Bartter Syndrome, Type 2, Antenatal	Polyhydramnios, Low-to-normal blood pressure, Dehydration, Hyperactive renin-angiotensin system, ...	OMIM:241200
Neurodegeneration With Brain Iron Accumulation 1	Urinary incontinence	OMIM:234200
Cockayne Syndrome B	Abnormal pinna morphology, Abnormal auditory evoked potentials, Tremor, Decreased nerve conductio...	OMIM:133540
Cockayne Syndrome A	Abnormal pinna morphology, Abnormal auditory evoked potentials, Tremor, Decreased nerve conductio...	OMIM:216400
Pelizaeus-Merzbacher Disease	Urinary urgency	OMIM:312080
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Urinary bladder sphincter dysfunction	ORPHA:64753
Arima Syndrome	Dyspnea, Hypertension, Polydipsia, Tachypnea	OMIM:243910
Spastic Ataxia, Charlevoix-Saguenay Type	Urinary urgency	OMIM:270550
Distal Renal Tubular Acidosis	Respiratory insufficiency due to muscle weakness, Polydipsia, Dehydration	ORPHA:18
Fragile X-Associated Tremor/Ataxia Syndrome	Pollakisuria, Urinary bladder sphincter dysfunction, Myalgia, Bowel incontinence	ORPHA:93256
African Trypanosomiasis	Fatigue, Rigors, Renal insufficiency, Urinary incontinence, Arthralgia	ORPHA:3385
Dopamine Beta-Hydroxylase Deficiency	Fatigue, Chest pain, Elevated urinary dopamine level, Nocturia	ORPHA:230
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Bowel incontinence, Periventricu...	ORPHA:261537
Orthostatic Hypotension 1	Nocturia	OMIM:223360
Spinocerebellar Ataxia 1	Urinary bladder sphincter dysfunction	OMIM:164400
Parkinson Disease, Late-Onset	Urinary urgency	OMIM:168600
Mowat-Wilson Syndrome	Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Abnormality of the kidney, Periv...	ORPHA:2152
Visceral Myopathy 1	Abdominal pain, Megacystis, Urinary retention, Vesicoureteral reflux, Hydronephrosis	OMIM:155310
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Abnormality of endocrine pancreas physiology, Polydipsia, Diabetes mellitus, Hypothyroidism	ORPHA:93111
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Bowel incontinence, Periventricu...	ORPHA:261552
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Abdominal cramps, Allodynia, Abdominal pain	OMIM:603041
Superficial Siderosis	Back pain, Functional abnormality of the bladder, Dysgyria	ORPHA:247245
Tenorio Syndrome	Enuresis	OMIM:616260
Parkinson Disease 1, Autosomal Dominant	Urinary urgency	OMIM:168601
Senior-Loken Syndrome 1	Polydipsia	OMIM:266900
Citrullinemia Type Ii	Enuresis, Night sweats	ORPHA:247585
Mend Syndrome	Abnormal auditory evoked potentials, Low-set ears	ORPHA:401973
7Q11.23 Microduplication Syndrome	Hypospadias, Unilateral renal agenesis, Simplified gyral pattern, Enuresis, Hydronephrosis	ORPHA:96121
Alström Syndrome	Recurrent urinary tract infections, Recurrent cystitis, Detrusor sphincter dyssynergia, Dysuria, ...	ORPHA:64
Hereditary Late-Onset Parkinson Disease	Spastic/hyperactive bladder	ORPHA:411602
Autosomal Dominant Progressive External Ophthalmoplegia	Fatigue, Exercise intolerance, Myalgia, Nocturia	ORPHA:254892
Isolated Posterior Meningocele	Enuresis, Bowel incontinence	ORPHA:268810
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Functional abnormality of the bladder, Renal artery stenosis, Renovascular hypertension	ORPHA:391487
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Urethral stricture, Renal insufficiency, Glomerulonephritis, Chronic kidney disease, Chronic pain...	ORPHA:79408
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Enuresis	ORPHA:369950
Familial Avascular Necrosis Of Femoral Head	Hip pain, Impairment of activities of daily living, Groin pain	ORPHA:86820
Williams-Beuren Syndrome	Recurrent urinary tract infections, Renal insufficiency, Abnormal renal morphology, Urethral sten...	OMIM:194050
Parkinson Disease 14, Autosomal Recessive	Nocturia	OMIM:612953
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Unilateral renal agenesis, Urinary urgency, Arthralgia, Micropenis, Pelvic kidney	OMIM:619503
Metatropic Dysplasia	Cataract	ORPHA:2635
Scapuloperoneal Spinal Muscular Atrophy	Torticollis, Facial palsy	OMIM:181405
Metatropic Dysplasia	Respiratory failure, Respiratory insufficiency	OMIM:156530
Digital Arthropathy-Brachydactyly, Familial		OMIM:606835
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8		OMIM:600175
Avascular Necrosis Of Femoral Head, Primary, 2		OMIM:617383
Parastremmatic Dwarfism		OMIM:168400
Brachyolmia Type 3		OMIM:113500
Familial Digital Arthropathy-Brachydactyly		ORPHA:85169
Spondyloepiphyseal Dysplasia, Maroteaux Type		OMIM:184095
Spondylometaphyseal Dysplasia, Kozlowski Type		OMIM:184252
Spondylometaphyseal Dysplasia, Kozlowski Type		ORPHA:93314
Autosomal Dominant Brachyolmia		ORPHA:93304
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy		ORPHA:1216

Histopathology

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

There is no histopathology data for Trpv4

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Trpv4.

There are 7 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
TRPV4 expression in the renal tubule is necessary for maintaining whole body K⁺ homeostasis.	American journal of physiology. Renal physiology (May 2023)	Trpv4^{tm1c(KOMP)Wtsi} Trpv4^{tm1a(KOMP)Wtsi}	37141145
Spatiotemporal and functional characterisation of transient receptor potential vanilloid 4 (TRPV4) in the murine intervertebral disc.	European cells & materials (February 2021)	Trpv4^{tm1a(KOMP)Wtsi} Trpv4^{tm1b(KOMP)Wtsi}	33620083
The Role of Transient Receptor Potential A1 and G Protein-Coupled Receptor 39 in Zinc-Mediated Acute and Chronic Itch in Mice.	Frontiers in molecular neuroscience (January 2021)	Trpv4^{tm1a(KOMP)Wtsi}	PMC8790520
Transient stimulation of TRPV4-expressing keratinocytes promotes hair follicle regeneration in mice.	British journal of pharmacology (July 2020)	Trpv4^{tm1c(KOMP)Wtsi}	32542737
Retinal Detachment-Induced Müller Glial Cell Swelling Activates TRPV4 Ion Channels and Triggers Photoreceptor Death at Body Temperature.	The Journal of neuroscience : the official journal of the Society for Neuroscience (August 2018)	Trpv4^{tm1c(KOMP)Wtsi} Trpv4^{tm1a(KOMP)Wtsi}	PMC6181316
TRPV4 Channel Signaling in Macrophages Promotes Gastrointestinal Motility via Direct Effects on Smooth Muscle Cells.	Immunity (June 2018)	Trpv4^{tm1c(KOMP)Wtsi}	PMC6051912
Transient receptor potential vanilloid 4-expressing macrophages and keratinocytes contribute differentially to allergic and nonallergic chronic itch.	The Journal of allergy and clinical immunology (August 2017)	Trpv4^{tm1c(KOMP)Wtsi} Trpv4^{tm1a(KOMP)Wtsi}	PMC5799031

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Trpv4^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Trpv4^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us