Vohwinkel Syndrome malady
Categories: Genetic diseases, Rare diseases, Ear diseases, Skin diseases, Fetal diseases
Aliases & Descriptions for Vohwinkel Syndrome:
Orphanet epidemiological data:52
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal
Inheritance: autosomal dominant inheritance
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Ear diseases, Skin diseases
Rare otorhinolaryngological diseases
Rare skin diseases
Developmental anomalies during embryogenesis
NIH Rare Diseases:46 Vohwinkel syndrome is an inherited condition that affects the skin. people with the "classic form" generally have honeycomb-patterned calluses on the palms of the hands and the soles of the feet (palmoplantar keratoses); constricting bands of tissue on the fingers and toes which can cause amputation; starfish-shaped, thickened skin on the tops of the fingers and knees; and hearing loss. a "variant form" of vohwinkel syndrome has also been identified which is characterized by ichthyosis in addition to the classic skin abnormalities and is not associated with hearing loss. classic vohwinkel syndrome is caused by changes (mutations) in the gjb2 gene and the variant form is caused by mutations in the lor gene. both are inherited in an autosomal dominant manner. although there is currently no cure for the condition, treatments are available to alleviate symptoms. last updated: 12/18/2015
MalaCards based summary: Vohwinkel Syndrome, also known as keratoderma hereditarium mutilans, is related to ichthyosis vulgaris and endometritis, and has symptoms including sensorineural hearing impairment, abnormality of the genital system and cognitive impairment. An important gene associated with Vohwinkel Syndrome is GJB2 (Gap Junction Protein Beta 2), and among its related pathways are Signaling in Gap Junctions and Gap junction trafficking. Affiliated tissues include skin and spinal cord.
Genetics Home Reference:24 Vohwinkel syndrome is a disorder with classic and variant forms, both of which affect the skin.
UniProtKB/Swiss-Prot:68 Vohwinkel syndrome: VS is an autosomal dominant disease characterized by hyperkeratosis, constriction on fingers and toes and congenital deafness.
Wikipedia:69 Palmoplantar keratodermas are a heterogeneous group of disorders characterized by abnormal thickening of... more...
Description from OMIM:50 124500
Symptoms by clinical synopsis from OMIM:124500
Clinical features from OMIM:124500
Symptoms:52 (show all 17)
HPO human phenotypes related to Vohwinkel Syndrome:(show all 12)
MalaCards organs/tissues related to Vohwinkel Syndrome:34
Skin, Spinal cord
Articles related to Vohwinkel Syndrome:(show all 18)
UniProtKB/Swiss-Prot genetic disease variations for Vohwinkel Syndrome:68
Clinvar genetic disease variations for Vohwinkel Syndrome:5
Search GEO for disease gene expression data for Vohwinkel Syndrome.
Pathways related to Vohwinkel Syndrome according to GeneCards Suite gene sharing:
Cellular components related to Vohwinkel Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Vohwinkel Syndrome according to GeneCards Suite gene sharing:
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet