Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandAbnormalities, Multiple (D000015)
Parent Node:
expandHand Deformities, Congenital (D006228)
Parent Node:
expandHearing Loss, Sensorineural (D006319)
Parent Node:
expandKeratoderma, Palmoplantar (D007645)
..Starting node
..expandVohwinkel syndrome (C536457)

       Child Nodes:



 Sister Nodes: 
..expandAcrokeratoelastoidosis of Costa (C535653)
..expandAlopecia congenita keratosis palmoplantaris (C537050)
..expandBasaran Yilmaz syndrome (C537660)
..expandCardiomyopathy dilated with Woolly hair and keratoderma (C535581)
..expandCerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (C537943)
..expandCorneodermatoosseous syndrome (C536444)
..expandFitzsimmons-McLachlan-Gilbert syndrome (C537058)
..expandHyperkeratosis-Hyperpigmentation Syndrome (C564172)
..expandHypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome (C564357)
..expandJudge Misch Wright syndrome (C537692)
..expandKeratoderma palmoplantar deafness (C536152)
..expandKeratoderma palmoplantar spastic paralysis (C536153)
..expandKeratoderma, Palmoplantar, Diffuse (D015776) Child7
..expandKeratoderma, Palmoplantar, Norrbotten Recessive Type (C565454)
..expandKeratosis focal palmoplantar gingival (C536157)
..expandKeratosis Palmaris et Plantaris with Clinodactyly (C563646)
..expandKeratosis palmoplantaris papulosa (C536161)
..expandKeratosis palmoplantaris striata 1 (C536162)
..expandKeratosis palmoplantaris striata 3 (C536163)
..expandKeratosis Palmoplantaris Striata II (C565102)
..expandKeratosis palmoplantaris with esophageal cancer (C536164)
..expandKnuckle pads, leuconychia and sensorineural deafness (C537210)
..expandNaegeli syndrome (C538331)
..expandNaxos disease (C538346)
..expandPalmoplantar Hyperkeratosis And True Hermaphroditism (C567165)
..expandPALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL (OMIM:610644)
..expandPalmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal (C565693)
..expandPalmoplantar Keratoderma with Deafness (C580359)
..expandPalmoplantar Keratoderma, Epidermolytic, with Knuckle Pads (C564171)
..expandPapillon-Lefevre Disease (D010214) Child2
..expandPatel Bixler syndrome (C536306)
..expandPorokeratosis punctata palmaris et plantaris (C536338)
..expandPowell Venencie Gordon syndrome (C538358)
..expandSchopf-Schulz-Passarge Syndrome (C565607)
..expandStern Lubinsky Durrie syndrome (C537488)
..expandVohwinkel syndrome (C536457)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:11654
Name:Vohwinkel syndrome
Definition:
Alternative IDs:OMIM:124500
ParentIDs:MESH:D000015|MESH:D006228|MESH:D006319|MESH:D007645
TreeNumbers:C05.390.408/C536457 |C05.660.585.988.425/C536457 |C09.218.458.341.887/C536457 |C10.597.751.418.341.887/C536457 |C16.131.077/C536457 |C16.131.621.585.425/C536457 |C16.320.850.475/C536457 |C17.800.428.435/C536457 |C17.800.827.475/C536457 |C23.888.592.763.393.341.88
Synonyms:Congenital Deafness with Keratopachydermia and Constrictions of Fingers and Toes |DEAFNESS, CONGENITAL, WITH KERATOPACHYDERMIA AND CONSTRICTIONS OF FINGERS AND TOES |Keratoderma hereditarium mutilans |KHM |Mutilating keratoderma |Palmoplantar Keratoderma Muti
Slim Mappings:Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Signs and symptoms|Skin disease
Reference: MedGen: C536457
MeSH: C536457
OMIM: 124500;

Genes: GJB2;
Phenotypes
1 HP:0007460Autoamputation of digits
2 HP:0000006Autosomal dominant inheritance
3 HP:0009775Amniotic constriction ring
4 HP:0000365Hearing impairment
5 HP:0007465Honeycomb palmoplantar hyperkeratosis
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_004004.5(GJB2):c.196G>C (p.Asp66His)2706GJB2Pathogenic104894403RCV000018536; NMedGen:C0265964,OMIM:124500,ORPHA:494,SNOMED CT:24559001132076352520763525NM_004004.5:c.196G>CNP_003995.2:p.Asp66HisNC_000013.10:g.20763525C>GOMIM Allelic Variant:121011.0012C1855548 245590 Growth hormone insensitivity with immunodeficiency; C0265964 124500 Mutilating keratoderma