Vohwinkel Syndrome with Ichthyosis malady
Categories: Genetic diseases, Skin diseases, Rare diseases
Aliases & Descriptions for Vohwinkel Syndrome with Ichthyosis:
Orphanet epidemiological data:52
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy
Global: Genetic diseases, Rare diseases
Anatomical: Skin diseases
Rare skin diseases
UniProtKB/Swiss-Prot:68 Vohwinkel syndrome with ichthyosis: A variant form of Vohwinkel syndrome without hearing loss and associated with ichthyosiform dermatosis. Clinical features include palmoplantar keratoderma, pseudoainhum and ichthyosis. Compact hyperkeratosis with round retained nuclei and hypergranulosis is observed on skin biopsies.
MalaCards based summary: Vohwinkel Syndrome with Ichthyosis, also known as vohwinkel syndrome variant form, is related to landau-kleffner syndrome and epilepsy, focal, with speech disorder and with or without mental retardation, and has symptoms including palmoplantar keratoderma, ichthyosis and hypertonia. An important gene associated with Vohwinkel Syndrome with Ichthyosis is LOR (Loricrin). Affiliated tissues include skin.
Wikipedia:69 Camisa disease (or Vohwinkel variant with ichthyosis) is the variant form of Vohwinkel syndrome,... more...
Description from OMIM:50 604117
Diseases related to Vohwinkel Syndrome with Ichthyosis via text searches within MalaCards or GeneCards Suite gene sharing:(show all 13)
Graphical network of diseases related to Vohwinkel Syndrome with Ichthyosis:
Symptoms by clinical synopsis from OMIM:604117
Clinical features from OMIM:604117
Symptoms:52 (show all 7)
HPO human phenotypes related to Vohwinkel Syndrome with Ichthyosis:(show all 8)
MalaCards organs/tissues related to Vohwinkel Syndrome with Ichthyosis:34
Articles related to Vohwinkel Syndrome with Ichthyosis:
Search GEO for disease gene expression data for Vohwinkel Syndrome with Ichthyosis.
Cellular components related to Vohwinkel Syndrome with Ichthyosis according to GeneCards Suite gene sharing:
Biological processes related to Vohwinkel Syndrome with Ichthyosis 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