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Gene: Trpv4 MGI:1926945

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Not currently registered for phenotyping at IMPC

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

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.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hereditary Motor And Sensory Neuropathy, Type Iic
Urinary incontinence, Urinary urgency OMIM:606071
Familial Avascular Necrosis Of Femoral Head
Impairment of activities of daily living, Groin pain, Hip pain ORPHA:86820
Metatropic Dysplasia
Cataract ORPHA:2635
Metatropic Dysplasia
Respiratory failure, Respiratory insufficiency OMIM:156530
Scapuloperoneal Spinal Muscular Atrophy
Stridor, Respiratory insufficiency OMIM:181405
Brachyolmia Type 3
OMIM:113500
Neuronopathy, Distal Hereditary Motor, Type Viii
OMIM:600175
Digital Arthropathy-Brachydactyly, Familial
OMIM:606835
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 Similarity of
phenotypes		 Matching phenotypes Source
Auditory Neuropathy, Autosomal Dominant, 1
Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials... OMIM:609129
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex OMIM:601071
Enuresis, Nocturnal, 1
Enuresis nocturna OMIM:600631
Enuresis, Nocturnal, 2
Enuresis nocturna OMIM:600808
Spastic Paraplegia 13, Autosomal Dominant
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:605280
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A
Urinary incontinence, Urinary urgency OMIM:156310
Spastic Paraplegia 19, Autosomal Dominant
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:607152
Spastic Paraplegia 12, Autosomal Dominant
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:604805
Spastic Paraplegia 41, Autosomal Dominant
Urinary urgency OMIM:613364
Spastic Paraplegia 72, Autosomal Recessive
Urinary bladder sphincter dysfunction OMIM:615625
Spastic Paraplegia 8, Autosomal Dominant
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:603563
Spastic Paraplegia 37, Autosomal Dominant
Urinary incontinence, Urinary urgency OMIM:611945
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency
Urinary bladder sphincter dysfunction ORPHA:284282
Autosomal Dominant Spastic Paraplegia Type 13
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction ORPHA:100994
Spastic Paraplegia 27, Autosomal Recessive
Spastic/hyperactive bladder OMIM:609041
Autosomal Recessive Frontotemporal Pachygyria
Pachygyria, Urinary incontinence ORPHA:329329
Spastic Paraplegia 6, Autosomal Dominant
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:600363
Urofacial Syndrome 2
Hydronephrosis, Urinary urgency, Recurrent urinary tract infections, Vesicoureteral reflux, Enure... OMIM:615112
Spastic Paraplegia 36, Autosomal Dominant
Urinary incontinence, Urinary urgency OMIM:613096
X-Linked Spastic Paraplegia Type 16
Functional abnormality of the bladder ORPHA:100997
Spastic Paraplegia 10, Autosomal Dominant
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:604187
Spastic Paraplegia 3, Autosomal Dominant
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:182600
Non-Syndromic Genetic Deafness
Conductive hearing impairment, Moderate hearing impairment, High-frequency hearing impairment, Ch... ORPHA:87884
Lower Urinary Tract Obstruction, Congenital
Urethral stenosis, Congenital posterior urethral valve, Pollakisuria, Urinary incontinence, Vesic... OMIM:618612
Spastic Paraplegia, Ataxia, And Mental Retardation
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:607565
Apnea, Central Sleep
Urinary incontinence OMIM:207720
Siddiqi Syndrome
Urinary incontinence OMIM:618635
Spastic Paraplegia 83, Autosomal Recessive
Myalgia, Urinary urgency OMIM:619027
Hydrocephalus, Normal-Pressure, 1
Bowel incontinence, Urinary incontinence OMIM:236690
Spastic Paraplegia 4, Autosomal Dominant
Low back pain, Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:182601
Autosomal Recessive Spastic Paraplegia Type 27
Spastic/hyperactive bladder ORPHA:101007
Intellectual Developmental Disorder, X-Linked 29
Urinary incontinence OMIM:300419
Autosomal Dominant Spastic Paraplegia Type 73
Urinary incontinence, Urinary urgency ORPHA:444099
Multiple Sclerosis, Susceptibility To
Urinary incontinence, Urinary hesitancy OMIM:126200
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Hearing impairment OMIM:600501
Spastic Paraplegia 16, X-Linked
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:300266
Ochoa Syndrome
Hydronephrosis, Recurrent urinary tract infections, Urinary incontinence, Vesicoureteral reflux, ... ORPHA:2704
Autosomal Dominant Spastic Paraplegia Type 4
Urinary urgency, Urinary bladder sphincter dysfunction ORPHA:100985
Isolated Epispadias
Urinary incontinence, Anteriorly displaced urethral meatus, Epispadias, Vesicoureteral reflux ORPHA:93928
Amyotrophic Dystonic Paraplegia
Bowel incontinence, Urinary incontinence OMIM:105300
Autosomal Spastic Paraplegia Type 72
Pain, Urinary bladder sphincter dysfunction ORPHA:401849
Posterior Urethral Valve
Hydronephrosis, Urinary retention, Urethral stenosis, Congenital posterior urethral valve, Unilat... ORPHA:93110
Spastic Paraplegia 80, Autosomal Dominant
Urinary urgency OMIM:618418
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Autosomal Recessive Spastic Paraplegia Type 48
Urinary incontinence, Urinary bladder sphincter dysfunction ORPHA:306511
Autosomal Dominant Spastic Paraplegia Type 36
Urinary incontinence, Urinary urgency ORPHA:320365
Glaucoma 3, Primary Congenital, E
Edema, Megalocornea, Ocular hypertension OMIM:617272
Autosomal Dominant Spastic Paraplegia Type 6
Urinary incontinence ORPHA:100988
3-Methylglutaconic Aciduria, Type Ix
3-Methylglutaconic aciduria, Urinary incontinence OMIM:617698
Spastic Paraplegia 48, Autosomal Recessive
Urinary incontinence OMIM:613647
Autosomal Recessive Spastic Paraplegia Type 76
Functional abnormality of the bladder ORPHA:488594
Renal Dysplasia
Abnormal renal calyx morphology, Chronic kidney disease, Abdominal pain, Abnormal nephron morphol... ORPHA:93108
Hinman Syndrome
Hydronephrosis, Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Bowel incont... ORPHA:84085
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Urinary incontinence OMIM:616688
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Urinary incontinence OMIM:613115
Interstitial Cystitis
Urinary bladder inflammation, Urinary urgency, Pollakisuria, Pain, Functional abnormality of the ... ORPHA:37202
Charcot-Marie-Tooth Disease, Type 4B3
Urinary incontinence OMIM:615284
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
Spastic Paraplegia 29, Autosomal Dominant
Nocturia, Urinary incontinence, Urinary urgency, Urinary hesitancy OMIM:609727
Spastic Paraplegia 31, Autosomal Dominant
Urinary urgency OMIM:610250
Adult Polyglucosan Body Disease
Urinary incontinence, Urinary bladder sphincter dysfunction, Neurogenic bladder ORPHA:206583
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Urinary incontinence, Low back pain OMIM:600142
Fowler Urethral Sphincter Dysfunction Syndrome
Urinary incontinence, Dysuria, Abnormality of the urethra, Urinary retention ORPHA:2795
Spastic Paraplegia 76, Autosomal Recessive
Urinary incontinence OMIM:616907
Autosomal Dominant Spastic Paraplegia Type 8
Urinary incontinence, Urinary urgency ORPHA:100989
Spastic Paraplegia 11, Autosomal Recessive
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:604360
Adenine Phosphoribosyltransferase Deficiency
Macroscopic hematuria, Urinary hesitancy, Urinary retention, Dysuria, Nephrolithiasis, Stage 5 ch... ORPHA:976
Bladder Diverticulum
Urethral sphincter sclerosis, Urinary hesitancy, Hematuria, Dysuria, Recurrent urinary tract infe... OMIM:109820
3-Methylglutaconic Aciduria Type 9
3-Methylglutaconic aciduria, Urinary incontinence ORPHA:505216
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Urinary incontinence OMIM:249900
Spastic Paraplegia 5A, Autosomal Recessive
Urinary incontinence OMIM:270800
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Urinary incontinence, Urinary urgency OMIM:612319
Spastic Paraplegia 44, Autosomal Recessive
Urinary incontinence OMIM:613206
Spastic Paralysis, Infantile-Onset Ascending
Urinary incontinence OMIM:607225
Spinocerebellar Ataxia 42
Urinary incontinence, Urinary urgency OMIM:616795
Vestibulocochlear Dysfunction, Progressive
Progressive hearing impairment, Tinnitus, Vestibular areflexia OMIM:193005
Perineural Cyst
Urinary bladder sphincter dysfunction, Sciatica, Lower limb pain, Anal pain, Recurrent urinary tr... ORPHA:65250
Pure Autonomic Failure
Constitutional symptom, Urinary incontinence, Dysuria ORPHA:441
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of somatosenso... ORPHA:320401
Peroxisome Biogenesis Disorder 14B
Urinary incontinence OMIM:614920
Neuronal Intranuclear Inclusion Disease
Urinary incontinence OMIM:603472
Spastic Paraplegia 15, Autosomal Recessive
Bowel incontinence, Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:270700
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Urinary incontinence ORPHA:352641
Baralle-Macken Syndrome
Urinary incontinence OMIM:619255
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Deafness, Autosomal Recessive 103
Sensorineural hearing impairment, Vestibular dysfunction, Vestibular areflexia OMIM:616042
Neural Tube Defects, Susceptibility To
Urinary incontinence OMIM:182940
Spinocerebellar Ataxia 48
Urinary incontinence OMIM:618093
Childhood Disintegrative Disorder
Bowel incontinence, Urinary incontinence ORPHA:168782
Duplication Of Urethra
Hypospadias, Bladder duplication, Chordee, Hypertrophy of the urinary bladder, Anuria, Pain, Dysu... ORPHA:237
Orofaciodigital Syndrome Xviii
Urinary incontinence OMIM:617927
Autosomal Dominant Spastic Paraplegia Type 12
Bowel incontinence, Urinary incontinence, Urinary urgency ORPHA:100993
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Urinary incontinence OMIM:600795
Syringomyelia, Noncommunicating Isolated
Neck pain, Urinary incontinence OMIM:186700
Unilateral Focal Polymicrogyria
Urinary incontinence ORPHA:268947
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Facial palsy OMIM:617519
Immunoneurologic Disorder, X-Linked
Functional abnormality of the bladder OMIM:300076
Spinocerebellar Ataxia 10
Urinary incontinence, Urinary urgency OMIM:603516
Spastic Paraplegia 54, Autosomal Recessive
Bowel incontinence, Urinary incontinence OMIM:615033
Spastic Paraplegia 7, Autosomal Recessive
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:607259
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment OMIM:601455
Microphthalmia, Isolated 6
Microcornea, Ocular hypertension OMIM:613517
Huntington Disease-Like 3
Bowel incontinence, Urinary incontinence OMIM:604802
Spastic Paraplegia 46, Autosomal Recessive
Urinary incontinence OMIM:614409
Urofacial Syndrome 1
Urethral valve, Hydronephrosis, Recurrent urinary tract infections, Enuresis, Urethral obstructio... OMIM:236730
Foix-Alajouanine Syndrome
Urinary retention, Back pain, Urinary incontinence, Functional abnormality of the bladder, Bowel ... ORPHA:79093
Neovascular Glaucoma
Iris neovascularization, Ocular hypertension, Corneal stromal edema ORPHA:94058
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement
Sensorineural hearing impairment, Vestibular areflexia OMIM:609006
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Urinary incontinence OMIM:617145
Primary Hyperoxaluria Type 3
Calcium oxalate nephrolithiasis, Abnormality of urine homeostasis, Nephrocalcinosis, Hematuria, H... ORPHA:93600
Macrophthalmia, Colobomatous, With Microcornea
Microcornea, Ocular hypertension OMIM:602499
Spinocerebellar Ataxia 17
Urinary incontinence OMIM:607136
Indifference To Pain, Congenital, Autosomal Recessive
Urinary incontinence OMIM:243000
Porphyria, Acute Intermittent
Urinary retention, Dysuria, Urinary incontinence, Abdominal pain, Elevated urinary delta-aminolev... OMIM:176000
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Urinary incontinence OMIM:221770
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment OMIM:125250
X-Linked Immunoneurologic Disorder
Functional abnormality of the bladder ORPHA:2571
Autosomal Recessive Spastic Paraplegia Type 46
Urinary incontinence ORPHA:320391
Camptobrachydactyly
Urinary incontinence OMIM:114150
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Urinary incontinence ORPHA:464282
Neuromyelitis Optica Spectrum Disorder
Functional abnormality of the bladder, Ocular pain, Recurrent singultus ORPHA:71211
Spinocerebellar Ataxia 25
Urinary urgency OMIM:608703
Dopa-Responsive Dystonia
Urinary incontinence, Fatigue, Pain ORPHA:255
Exfoliation Syndrome
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Cataract,... OMIM:177650
Spinocerebellar Ataxia Type 25
Episodic abdominal pain, Urinary urgency ORPHA:101111
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
Bowel incontinence, Urinary incontinence OMIM:618868
Intellectual Developmental Disorder, X-Linked 90
Enuresis OMIM:300850
Huntington Disease-Like 3
Bowel incontinence, Urinary incontinence ORPHA:157946
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Ocular hypertension, Iris coloboma OMIM:610023
Weill-Marchesani Syndrome 4
Iridodonesis, Phakodonesis, Ocular hypertension, Ectopia lentis OMIM:613195
Glaucoma 1, Primary Open Angle, C
Ocular hypertension OMIM:601682
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Facial palsy, Heari... OMIM:601596
3-Methylglutaconic Aciduria, Type I
3-Methylglutaconic aciduria, Urinary incontinence OMIM:250950
Ketamine-Induced Biliary Dilatation
Dysuria, Abdominal pain ORPHA:293807
Familial Cold Urticaria
Pruritus, Dehydration, Polydipsia, Conjunctivitis ORPHA:47045
Hereditary Motor And Sensory Neuropathy, Type Iic
Urinary incontinence, Urinary urgency OMIM:606071
Microcoria, Congenital
Microcoria, Hypoplasia of the iris dilator muscle, Ocular hypertension OMIM:156600
Small Cell Carcinoma Of The Bladder
Recurrent urinary tract infections, Hematuria, Dysuria, Abdominal pain ORPHA:284400
Adult-Onset Distal Myopathy Due To Vcp Mutation
Myalgia, Bowel incontinence, Urinary incontinence, Back pain ORPHA:329478
Myopathy, Myofibrillar, 7
Myalgia, Bowel incontinence, Urinary incontinence, Enuresis nocturna OMIM:617114
Paganini-Miozzo Syndrome
Urinary incontinence OMIM:301025
Renal Glucosuria
Polyuria, Enuresis nocturna, Glycosuria OMIM:233100
Weill-Marchesani Syndrome 3
Ocular hypertension, Ectopia lentis, Microspherophakia, Pulmonic stenosis, Aortic valve stenosis OMIM:614819
Adrenoleukodystrophy
Bowel incontinence, Urinary incontinence, Urinary bladder sphincter dysfunction OMIM:300100
Glaucoma 1, Open Angle, F
Ocular hypertension OMIM:603383
Chiari Malformation Type I
Neck pain, Urinary incontinence OMIM:118420
Irvan Syndrome
Ocular hypertension, Macular edema ORPHA:209943
Spinocerebellar Ataxia Type 19/22
Urinary incontinence ORPHA:98772
Birdshot Chorioretinopathy
Cystoid macular edema, Cataract, Ocular hypertension ORPHA:179
Acute Intermittent Porphyria
Limb pain, Urinary retention, Dysuria, Porphyrinuria, Back pain, Dark urine, Increased urinary po... ORPHA:79276
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Urinary incontinence ORPHA:98
Uveal Melanoma
Mydriasis, Ocular hypertension, Zonular cataract, Vitreous hemorrhage, Iris melanoma, Inferior le... ORPHA:39044
Pudendal Neuralgia
Pollakisuria, Dysuria, Back pain, Episodic abdominal pain, Vulvodynia, Abdominal colic, Scrotal pain ORPHA:60039
Mohr-Tranebjaerg Syndrome
Optic atrophy, Vestibular dysfunction, Abnormality of somatosensory evoked potentials, Absent bra... ORPHA:52368
Pediatric-Onset Graves Disease
Hypertension, Increased circulating T4 level, Atrial fibrillation, Goiter, Polyphagia, Palpitatio... ORPHA:525731
Mitochondrial Membrane Protein-Associated Neurodegeneration
Bowel incontinence, Urinary incontinence ORPHA:289560
Posterior Column Ataxia With Retinitis Pigmentosa
Recurrent urinary tract infections, Urinary incontinence OMIM:609033
Basal Ganglia Calcification, Idiopathic, 1
Urinary incontinence OMIM:213600
Parkinson Disease 6, Autosomal Recessive Early-Onset
Urinary urgency OMIM:605909
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Hypertension, Intracranial hemorrhage, Polydipsia, Abnormal circulating reni... ORPHA:403
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Bowel incontinence, Urinary incontinence, Polymicrogyria OMIM:618877
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Urinary incontinence OMIM:125310
Adrenomyeloneuropathy
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary retention, Back pain, Urinary inc... ORPHA:139399
Posterior Polymorphous Corneal Dystrophy
Ocular hypertension, Corneal stromal edema, Reduced number of corneal endothelial cells, Increase... ORPHA:98973
Spastic Paraplegia 9A, Autosomal Dominant
Urinary incontinence, Urinary urgency OMIM:601162
Autosomal Dominant Spastic Paraplegia Type 9A
Urinary urgency, Pollakisuria, Urinary incontinence, Lower limb pain, Low back pain ORPHA:447753
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Urinary incontinence OMIM:604320
Type 1 Diabetes Mellitus
Polyphagia, Diabetes mellitus, Polydipsia OMIM:222100
Autosomal Recessive Spastic Paraplegia Type 77
Urinary incontinence, Detrusor sphincter dyssynergia, Neurogenic bladder ORPHA:466722
Spastic Paraplegia 30, Autosomal Dominant
Urinary bladder sphincter dysfunction OMIM:610357
Medullary cystic kidney disease 2
Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Renal ... OMIM:603860
Nephronophthisis 3
Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst... OMIM:604387
Fragile X Tremor/Ataxia Syndrome
Myalgia, Bowel incontinence, Urinary incontinence OMIM:300623
Spinocerebellar Ataxia Type 42
Urinary incontinence, Urinary urgency ORPHA:458803
X-Linked Non-Syndromic Intellectual Disability
Urinary incontinence ORPHA:777
Sandhoff Disease
Episodic abdominal pain, Urinary incontinence, Exaggerated startle response OMIM:268800
Amyloidosis, Hereditary, Transthyretin-Related
Urinary incontinence OMIM:105210
Spinocerebellar Ataxia Type 13
Urinary incontinence, Urinary urgency ORPHA:98768
Brain-Lung-Thyroid Syndrome
Hypoparathyroidism, Abnormal drinking behavior, Congenital hypothyroidism, Neonatal respiratory d... ORPHA:209905
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Head titubation, Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Wieacker-Wolff Syndrome, Female-Restricted
Urinary incontinence OMIM:301041
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Urinary incontinence, Abnormal vestibulo-ocular reflex ORPHA:247234
Autosomal Dominant Spastic Paraplegia Type 41
Urinary urgency ORPHA:320355
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Hypertension, Intracranial hemorrhage, Prolonged QT interval, Polydipsia, Ab... ORPHA:251274
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Urinary urgency ORPHA:314603
Mental Retardation With Language Impairment And With Or Without Autistic Features
Enuresis OMIM:613670
Central Diabetes Insipidus
Dehydration, Diabetes insipidus, Polydipsia ORPHA:178029
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of the outer ear, Ab... OMIM:201050
Marchiafava-Bignami Disease
Urinary incontinence ORPHA:221074
Spastic Ataxia 3, Autosomal Recessive
Urinary urgency OMIM:611390
Autosomal Dominant Spastic Paraplegia Type 37
Fatigue, Urinary urgency ORPHA:171612
Cystinosis
Polydipsia, Corneal opacity, Nephrogenic diabetes insipidus, Type I diabetes mellitus, Hypothyroi... ORPHA:213
Autosomal Dominant Optic Atrophy Plus Syndrome
Sensorineural hearing impairment, Optic atrophy, Absent brainstem auditory responses, Temporal op... ORPHA:1215
Hereditary Central Diabetes Insipidus
Diabetes insipidus, Polydipsia ORPHA:30925
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Macroscopic hematuria, Dysuria, Acute kidney injury, Uric acid nephrolithiasis, Nephropathy, Rena... ORPHA:79233
Autosomal Dominant Centronuclear Myopathy
Exercise-induced myalgia, Urinary incontinence ORPHA:169189
Encephalitis Lethargica
Myalgia, Bowel incontinence, Urinary incontinence, Limb pain ORPHA:83600
Adult Krabbe Disease
Urinary incontinence ORPHA:206448
Spinal Arteriovenous Metameric Syndrome
Urinary bladder sphincter dysfunction, Arthralgia, Fatigue, Gangrene, Abnormality of the kidney, ... ORPHA:53721
Exstrophy-Epispadias Complex
Bladder duplication, Horseshoe kidney, Renal hypoplasia, Abnormality of the ureter, Absent penis,... ORPHA:322
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Stress urinary incontinence ORPHA:136
Nephronophthisis-Like Nephropathy 2
Cough, Polydipsia, Bronchiectasis OMIM:619468
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Bowel incontinence, Urinary incontinence OMIM:300243
Congenital Microcoria
Nuclear cataract, Developmental cataract, Ocular hypertension, Corneal stromal edema, Iris transi... ORPHA:566
Autosomal Recessive Ataxia, Beauce Type
Urinary incontinence ORPHA:88644
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Urinary incontinence ORPHA:98784
Cog5-Cdg
Urinary incontinence, Micropenis, Neurogenic bladder ORPHA:263487
Senior-Loken Syndrome 3
Nephronophthisis, Renal corticomedullary cysts, Stage 5 chronic kidney disease, Enuresis, Polyuria OMIM:606995
Anterior Segment Dysgenesis 7
Sclerocornea, Microcornea, Cataract, Ocular hypertension OMIM:269400
Childhood Absence Epilepsy
Urinary incontinence ORPHA:64280
Roussy-Lévy Syndrome
Urinary bladder sphincter dysfunction ORPHA:3115
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Hypertension, Intracranial hemorrhage, Polydipsia, Abnormal circulating reni... ORPHA:369929
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Idiopathic Anterior Uveitis
Nuclear cataract, Posterior subcapsular cataract, Ocular hypertension, Macular edema, Posterior s... ORPHA:280914
Bardet-Biedl Syndrome 9
Astigmatism, Polydipsia, Cataract, Polyphagia OMIM:615986
Autosomal Recessive Spastic Paraplegia Type 35
Bowel incontinence, Urinary incontinence, Enuresis nocturna, Pollakisuria ORPHA:171629
Anterior Segment Dysgenesis 2
Ocular hypertension, Aniridia, Congenital aphakia, Sclerocornea, Posterior synechiae of the anter... OMIM:610256
Metachromatic Leukodystrophy
Urinary incontinence OMIM:250100
Primary Progressive Freezing Gait
Urinary incontinence ORPHA:75567
Spinocerebellar Ataxia Type 8
Urinary incontinence ORPHA:98760
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Hypertension, Decreased circulating renin level, Polydipsia, Palpitations, E... ORPHA:231580
Arachnoid Cyst
Urinary bladder sphincter dysfunction, Sciatica, Back pain, Urinary incontinence, Lower limb pain... ORPHA:2356
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Bowel incontinence, Urinary incontinence OMIM:617193
Multiple System Atrophy 1, Susceptibility To
Urinary incontinence, Urinary urgency OMIM:146500
Senior-Loken Syndrome 1
Polydipsia OMIM:266900
Juvenile Amyotrophic Lateral Sclerosis
Urinary incontinence ORPHA:300605
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Bowel incontinence, Urinary incontinence, Neurogenic bladder ORPHA:496641
Pandas
Enuresis, Arthralgia, Encopresis ORPHA:66624
Whipple Disease
Myocarditis, Pericarditis, Respiratory insufficiency, Polydipsia, Cough, Myocardial infarction, G... ORPHA:3452
Arachnoiditis
Arthralgia, Fatigue, Urinary bladder sphincter dysfunction ORPHA:137817
Primary Hyperoxaluria Type 1
Hyperoxaluria, Nephrocalcinosis, Hematuria, Decreased glomerular filtration rate, Dysuria, Nephro... ORPHA:93598
Glaucoma, Primary Closed-Angle
Anterior synechiae of the anterior chamber, Ocular hypertension OMIM:618880
Spastic Paraplegia Type 2
Bowel incontinence, Spastic/hyperactive bladder ORPHA:99015
Benign Schwannoma
Abnormal cranial nerve morphology, Vestibular Schwannoma, Facial palsy, Vertigo, Abnormality of p... ORPHA:252164
Anterior Cutaneous Nerve Entrapment Syndrome
Recurrent urinary tract infections, Allodynia, Abdominal pain, Back pain ORPHA:51890
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Low intraocular pressure, Ectopia lentis OMIM:601552
Nephrogenic Diabetes Insipidus
Polydipsia, Hypernatremic dehydration, Polyhydramnios, Nephrogenic diabetes insipidus, Hypovolemia ORPHA:223
Dural Sinus Malformation
Cerebral hemorrhage, Intracranial hemorrhage, Ocular hypertension, Subdural hemorrhage, Chemosis,... ORPHA:97339
Panhypophysitis
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Decreased circul... ORPHA:95513
Senior-Loken Syndrome 4
Polydipsia OMIM:606996
Sporadic Infantile Bilateral Striatal Necrosis
Urinary incontinence ORPHA:225147
Trigeminal Neuralgia
Allodynia, Mandibular pain, Trigeminal neuralgia, Ocular pain ORPHA:221091
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Hypertension, Polydipsia, Decreased circulating renin level, Hyperaldosteronism OMIM:613677
Charcot-Marie-Tooth Disease Type 1F
Urinary incontinence ORPHA:101085
Autosomal Recessive Spastic Paraplegia Type 15
Functional abnormality of the bladder ORPHA:100996
Phacoanaphylactic Uveitis
Retinal arteritis, Conjunctival hyperemia, Corneal keratic precipitates, Ocular hypertension, Cor... ORPHA:209959
Autosomal Dominant Spastic Paraplegia Type 3
Urinary urgency ORPHA:100984
Complex Regional Pain Syndrome
Allodynia, Limb pain ORPHA:83452
Metachromatic Leukodystrophy
Limb pain, Pain, Urinary incontinence, Bowel incontinence, Impaired continence ORPHA:512
Epilepsy, Progressive Myoclonic, 10
Urinary incontinence OMIM:616640
Metachromatic Leukodystrophy, Late Infantile Form
Urinary incontinence ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form
Urinary incontinence ORPHA:309263
Late-Infantile/Juvenile Krabbe Disease
Tremor, EEG with persistent abnormal rhythmic activity, Decreased nerve conduction velocity, Prol... ORPHA:206443
Intellectual Developmental Disorder, X-Linked 98
Urinary incontinence, Steroid-dependent nephrotic syndrome OMIM:300912
Xq28 (MECP2) duplication
Functional abnormality of the bladder DECIPHER:45
Congenital Disorder Of Glycosylation, Type Iit
Urinary incontinence OMIM:618885
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Head titubat... ORPHA:99027
Gitelman Syndrome
Renal Fanconi syndrome, Focal segmental glomerulosclerosis, Tubulointerstitial nephritis, Renal t... ORPHA:358
Currarino Syndrome
Horseshoe kidney, Recurrent urinary tract infections, Urinary incontinence, Vesicoureteral reflux... OMIM:176450
Idiopathic Panuveitis
Conjunctival hyperemia, Ocular hypertension, Posterior synechiae of the anterior chamber, Cystoid... ORPHA:280921
Metachromatic Leukodystrophy, Adult Form
Bowel incontinence, Urinary incontinence ORPHA:309271
Apparent Mineralocorticoid Excess
Hypertension, Decreased circulating aldosterone level, Polydipsia, Decreased circulating renin le... ORPHA:320
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Urinary incontinence ORPHA:476126
Spastic Paraplegia 78, Autosomal Recessive
Urinary urgency OMIM:617225
Autosomal Dominant Spastic Paraplegia Type 19
Urinary urgency ORPHA:100999
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypertonic dehydration, Diabetes insipidus, Polydipsia OMIM:304800
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypertonic dehydration, Nephrogenic diabetes insipidus, Polydipsia OMIM:125800
Amelogenesis Imperfecta, Type Ig
Nephrocalcinosis, Impaired renal concentrating ability, Enuresis, Polyuria, Renal insufficiency OMIM:204690
Neuroleptic Malignant Syndrome
Myoglobinuria, Urinary incontinence, Acute kidney injury, Fatigue, Proteinuria, Rigors ORPHA:94093
Anterior Segment Dysgenesis 1
Posterior polar cataract, Opacification of the corneal stroma, Microcornea, Ocular hypertension OMIM:107250
Hyperostosis Cranialis Interna
Ocular hypertension OMIM:144755
Diabetes Insipidus, Neurohypophyseal, X-Linked
Central diabetes insipidus, Polydipsia OMIM:304900
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
Urinary urgency, Simplified gyral pattern OMIM:619286
Acute Transverse Myelitis
Urinary bladder sphincter dysfunction, Urinary retention, Back pain, Urinary incontinence, Fatigue ORPHA:139417
Arnold-Chiari Malformation Type I
Neck pain, Urinary incontinence ORPHA:268882
Erdheim-Chester Disease
Diabetes insipidus, Polydipsia, Hypogonadotropic hypogonadism, Cough, Congestive heart failure, S... ORPHA:35687
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Optic disc pallor, Abnormal auditory evoked potentials OMIM:619260
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Hypospadias, Hydronephrosis, Renal agenesis, Chordee, Pelvic kidney, Exaggerated startle response... OMIM:619522
Acquired Central Diabetes Insipidus
Pollakisuria ORPHA:95626
Oculoauricular Syndrome
Iris cyst, Developmental cataract, Posterior embryotoxon, Ocular hypertension, Microphakia, Scler... OMIM:612109
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Spastic Paraplegia Type 7
Lower limb pain, Urinary urgency ORPHA:99013
Malakoplakia
Urinary bladder inflammation, Urinary urgency, Urinary hesitancy, Hematuria, Dysuria, Proteinuria... ORPHA:556
Neurotrophic Keratopathy
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Corneal scarring, Allody... ORPHA:137596
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Urinary incontinence ORPHA:314404
East Syndrome
Salt craving, Increased circulating renin level, Polydipsia, Hyperaldosteronism ORPHA:199343
Musculocontractural Ehlers-Danlos Syndrome
Astigmatism, Recurrent skin infections, Pneumothorax, Ocular hypertension ORPHA:2953
Orthostatic Hypotension 1
Nocturia OMIM:223360
Wolfram Syndrome
Central apnea, Diabetes insipidus, Polydipsia, Respiratory insufficiency, Cardiomyopathy, Hypogon... ORPHA:3463
Spastic Paraplegia 26, Autosomal Recessive
Urinary urgency OMIM:609195
Hereditary Amyloidosis With Primary Renal Involvement
Renal tubular atrophy, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased glomerular fil... ORPHA:85450
Renal Hypoplasia
Hypertension, Dehydration, Polydipsia ORPHA:93101
Juvenile Glaucoma
Ocular hypertension, Abnormality iris morphology ORPHA:98977
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Urinary incontinence, Fatigue ORPHA:466768
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Split Cord Malformation
Hypospadias, Horseshoe kidney, Hydronephrosis, Detrusor sphincter dyssynergia, Renal duplication,... ORPHA:573278
Infantile Krabbe Disease
Optic atrophy, Opisthotonus, Decreased nerve conduction velocity, Hearing impairment, Prolonged b... ORPHA:206436
Gitelman Syndrome
Prolonged QT interval, Polydipsia, Palpitations, Ventricular tachycardia, Salt craving, Delayed p... OMIM:263800
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Polydipsia, Insulin-resistant diabetes mellitus, Diabetic ket... ORPHA:769
Hyperparathyroidism, Neonatal Severe
Elevated circulating parathyroid hormone level, Polydipsia, Tachypnea, Primary hyperparathyroidis... OMIM:239200
Cockayne Syndrome
Renal hypoplasia, Nephrotic syndrome, Abnormal renal physiology, Urinary incontinence, Unilateral... ORPHA:191
Adnp Syndrome
Recurrent urinary tract infections, Urinary incontinence ORPHA:404448
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Decreased nerve conduction velocity, Sensorineural hearing i... OMIM:609136
Bardet-Biedl Syndrome 17
Hypogonadism, Polydipsia OMIM:615994
Glaucoma 3, Primary Congenital, A
Ocular hypertension OMIM:231300
Distal Monosomy 10Q
Horseshoe kidney, Functional abnormality of the bladder, Acute kidney injury, Vesicoureteral refl... ORPHA:96148
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hip pain, Urinary bladder sphincter dysfunction ORPHA:52430
Autosomal Dominant Spastic Paraplegia Type 10
Spastic/hyperactive bladder, Urinary urgency ORPHA:100991
Toxic Epidermal Necrolysis
Restrictive ventilatory defect, Dysphagia, Corneal erosion, Polydipsia, Cough, Respiratory distre... ORPHA:537
Cockayne Syndrome Type 1
Optic atrophy, Macrotia, Absent brainstem auditory responses, Hearing impairment, Tremor, Abnorma... ORPHA:90321
Enamel-Renal Syndrome
Nephrocalcinosis, Hypophosphaturia, Hypocalciuria, Impaired renal concentrating ability, Nephropa... ORPHA:1031
Pituitary Dermoid And Epidermoid Cysts
Increased circulating prolactin concentration, Enlarged pituitary gland, Polydipsia, Hypogonadism... ORPHA:91351
Late-Onset Retinal Degeneration
Iris transillumination defect, Iris atrophy, Ocular hypertension ORPHA:67042
Meningioma
Ear pain, Urinary incontinence, Trigeminal neuralgia, Back pain ORPHA:2495
Septo-Optic Dysplasia Spectrum
Maternal diabetes, Diabetes insipidus, Polydipsia, Abnormality of the hypothalamus-pituitary axis... ORPHA:3157
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Renal salt wasting, Renal sodium wasting, Hypocalciuria, Renal potassium wasting, Enuresis, Polyuria OMIM:612780
Spastic Paraplegia 84, Autosomal Recessive
Urinary urgency OMIM:619621
Blepharophimosis-Impaired Intellectual Development Syndrome
Hypospadias, Enuresis, Recurrent urinary tract infections OMIM:619293
Teratoma, Pineal
Polydipsia OMIM:273120
Nephronophthisis 1
Hypertension, Polydipsia OMIM:256100
Kufor-Rakeb Syndrome
Urinary incontinence, Bowel incontinence, Fatigue ORPHA:306674
Iatrogenic Botulism
Fatigue, Urinary retention ORPHA:254509
Oligomeganephronia
Hypertension, Dehydration, Polydipsia ORPHA:2260
Nail-Patella Syndrome
Antecubital pterygium, Abnormal iris pigmentation, Ocular hypertension, Lester's sign ORPHA:2614
Nephronophthisis 11
Anisocoria, Polydipsia OMIM:613550
Infantile Nephropathic Cystinosis
Polydipsia, Abnormality of thyroid physiology, Corneal crystals, Abnormal cornea morphology, Dehy... ORPHA:411629
Igg4-Related Retroperitoneal Fibrosis
Hydronephrosis, Nephrotic syndrome, Renovascular hypertension, Membranous nephropathy, Hematuria,... ORPHA:49041
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Urinary incontinence OMIM:619482
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Urinary incontinence ORPHA:447997
Inhalational Botulism
Fatigue, Urinary retention ORPHA:254504
Juvenile Nephropathic Cystinosis
Polydipsia, Hypothyroidism, Corneal crystals, Hypovolemia, Abnormal cornea morphology, Dehydration ORPHA:411634
Urachal Cyst
Pyuria, Chills, Hematuria, Dysuria, Urachus fistula, Abdominal pain ORPHA:488
Botulism
Fatigue, Abdominal pain, Urinary retention ORPHA:1267
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Spastic/hyperactive bladder ORPHA:137898
Okamoto Syndrome
Unilateral renal hypoplasia, Urinary incontinence, Ureteropelvic junction obstruction, Hydronephr... ORPHA:2729
Trisomy 10P
Low voltage EEG, Abnormal auditory evoked potentials, Macrotia, Posteriorly rotated ears, EEG wit... ORPHA:171929
Sacral Defect With Anterior Meningocele
Back pain, Urinary retention, Neurogenic bladder OMIM:600145
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Enuresis, Tubulointerstitial nephritis, Abnormality of the kidney ORPHA:459061
Intellectual Disability-Alacrima-Achalasia Syndrome
Enuresis ORPHA:289483
Autosomal Recessive Spastic Paraplegia Type 9B
Pollakisuria, Urinary retention, Impaired continence ORPHA:447760
Friedreich Ataxia
Impaired visually enhanced vestibulo-ocular reflex, Urinary bladder sphincter dysfunction ORPHA:95
X-Linked Adrenoleukodystrophy
Urinary bladder sphincter dysfunction, Neurogenic bladder ORPHA:43
Cystinosis, Nephropathic
Dysphagia, Polydipsia, Recurrent corneal erosions, Primary hypothyroidism, Male hypogonadism, Dia... OMIM:219800
Hyperparathyroidism-Jaw Tumor Syndrome
Elevated circulating parathyroid hormone level, Shortened QT interval, Dysphagia, Thyroid carcino... ORPHA:99880
Parathyroid Carcinoma
Elevated circulating parathyroid hormone level, Shortened QT interval, Dysphagia, Thyroid carcino... ORPHA:143
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal circulating osteocalcin level, Ocular hypertension ORPHA:93315
Machado-Joseph Disease
Chronic pain, Urinary bladder sphincter dysfunction OMIM:109150
Spinocerebellar Ataxia 2
Urinary bladder sphincter dysfunction OMIM:183090
Cockayne Syndrome A
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of the pinna, Decreased nerve con... OMIM:216400
Helix Syndrome
Xerostomia, Hyperparathyroidism, Polydipsia OMIM:617671
Spinocerebellar Ataxia Type 10
Urinary urgency ORPHA:98761
Mogs-Cdg
Sensorineural hearing impairment, Optic atrophy, Absent brainstem auditory responses ORPHA:79330
Senior-Boichis Syndrome
Hypertension, Polydipsia, Portal hypertension, Ascites ORPHA:84081
Neurodegeneration With Brain Iron Accumulation 1
Urinary incontinence OMIM:234200
Cerebrotendinous Xanthomatosis
Optic atrophy, Optic neuropathy, Optic disc pallor, Abnormal auditory evoked potentials, Abnormal... ORPHA:909
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Central hypothyroidism, Obstructive sleep apnea, Polyphagia, Polydipsia, Premature adrenarche, Ab... ORPHA:293987
Tubulointerstitial Nephritis And Uveitis Syndrome
Ocular hypertension, Macular edema, Vitreous hemorrhage, Cystoid macular edema, Cataract, Posteri... ORPHA:91500
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of the pinna, Decreased nerve con... OMIM:133540
African Trypanosomiasis
Arthralgia, Fatigue, Urinary incontinence, Rigors, Renal insufficiency ORPHA:3385
Autosomal Recessive Polycystic Kidney Disease
Hypertension, Ascites, Polydipsia, Gastrointestinal hemorrhage, Oligohydramnios, Recurrent pneumo... ORPHA:731
Nephronophthisis 4
Polydipsia OMIM:606966
Spastic Ataxia, Charlevoix-Saguenay Type
Urinary urgency OMIM:270550
Proximal Renal Tubular Acidosis
Polydipsia, Cataract, Hypovolemia, Band keratopathy, Dehydration ORPHA:47159
Fragile X-Associated Tremor/Ataxia Syndrome
Myalgia, Pollakisuria, Bowel incontinence, Urinary bladder sphincter dysfunction ORPHA:93256
Bartter Syndrome, Type 2, Antenatal
Hyperactive renin-angiotensin system, Polydipsia, Low-to-normal blood pressure, Polyhydramnios, H... OMIM:241200
Visceral Myopathy 1
Hydronephrosis, Urinary retention, Megacystis, Vesicoureteral reflux, Abdominal pain OMIM:155310
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Hypospadias, Hydronephrosis, Periventricular heterotopia, Chordee, Pelvic kidney, Renal duplicati... ORPHA:261537
Dopamine Beta-Hydroxylase Deficiency
Fatigue, Elevated urinary dopamine, Nocturia, Chest pain ORPHA:230
Spinocerebellar Ataxia 1
Urinary bladder sphincter dysfunction OMIM:164400
Mowat-Wilson Syndrome
Hypospadias, Hydronephrosis, Periventricular heterotopia, Chordee, Pelvic kidney, Renal duplicati... ORPHA:2152
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Urinary bladder sphincter dysfunction ORPHA:64753
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Hypospadias, Hydronephrosis, Periventricular heterotopia, Chordee, Pelvic kidney, Renal duplicati... ORPHA:261552
Parkinson Disease, Late-Onset
Urinary urgency OMIM:168600
Distal Renal Tubular Acidosis
Respiratory insufficiency due to muscle weakness, Dehydration, Polydipsia ORPHA:18
Parkinson Disease 1, Autosomal Dominant
Urinary urgency OMIM:168601
Hypomagnesemia 3, Renal
Astigmatism, Polydipsia OMIM:248250
Superficial Siderosis
Functional abnormality of the bladder, Back pain, Dysgyria ORPHA:247245
Citrullinemia Type Ii
Enuresis, Night sweats ORPHA:247585
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of endocrine pancreas physiology, Polydipsia, Diabetes mellitus, Hypothyroidism ORPHA:93111
7Q11.23 Microduplication Syndrome
Hypospadias, Hydronephrosis, Simplified gyral pattern, Unilateral renal agenesis, Enuresis ORPHA:96121
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials ORPHA:401973
Alström Syndrome
Urinary urgency, Urinary retention, Dysuria, Detrusor sphincter dyssynergia, Stage 5 chronic kidn... ORPHA:64
Hereditary Late-Onset Parkinson Disease
Spastic/hyperactive bladder ORPHA:411602
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Functional abnormality of the bladder, Renal artery stenosis, Renovascular hypertension ORPHA:391487
Autosomal Dominant Progressive External Ophthalmoplegia
Myalgia, Fatigue, Nocturia ORPHA:254892
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Chronic pain, Urinary bladder sphincter dysfunction, IgA deposition in the glomerulus, Abnormalit... ORPHA:79408
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Enuresis ORPHA:369950
Posterior Meningocele
Enuresis, Bowel incontinence ORPHA:268810
Familial Avascular Necrosis Of Femoral Head
Impairment of activities of daily living, Groin pain, Hip pain ORPHA:86820
Williams-Beuren Syndrome
Renal hypoplasia, Urethral stenosis, Nephrocalcinosis, Pelvic kidney, Recurrent urinary tract inf... OMIM:194050
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Urinary urgency, Pelvic kidney, Arthralgia, Micropenis, Unilateral renal agenesis OMIM:619503
Metatropic Dysplasia
Cataract ORPHA:2635
Metatropic Dysplasia
Respiratory failure, Respiratory insufficiency OMIM:156530
Scapuloperoneal Spinal Muscular Atrophy
Stridor, Respiratory insufficiency OMIM:181405
Neuronopathy, Distal Hereditary Motor, Type Viii
OMIM:600175
Avascular Necrosis Of Femoral Head, Primary, 2
OMIM:617383
Brachyolmia Type 3
OMIM:113500
Spondyloepiphyseal Dysplasia, Maroteaux Type
OMIM:184095
Familial Digital Arthropathy-Brachydactyly
ORPHA:85169
Parastremmatic Dwarfism
OMIM:168400
Spondylometaphyseal Dysplasia, Kozlowski Type
ORPHA:93314
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
ORPHA:1216
Autosomal Dominant Brachyolmia
ORPHA:93304
Spondylometaphyseal Dysplasia, Kozlowski Type
OMIM:184252
Digital Arthropathy-Brachydactyly, Familial
OMIM:606835

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 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
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) Trpv4tm1a(KOMP)Wtsi PMC8790520
Transient stimulation of TRPV4-expressing keratinocytes promotes hair follicle regeneration in mice. British journal of pharmacology (July 2020) Trpv4tm1c(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) Trpv4tm1c(KOMP)Wtsi Trpv4tm1a(KOMP)Wtsi PMC6181316
TRPV4 Channel Signaling in Macrophages Promotes Gastrointestinal Motility via Direct Effects on Smooth Muscle Cells. Immunity (June 2018) Trpv4tm1c(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) Trpv4tm1c(KOMP)Wtsi Trpv4tm1a(KOMP)Wtsi PMC5799031

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MGI Allele Allele Type Produced
Trpv4tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Trpv4tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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