Disease Information for Vohwinkel syndrome (1q21)

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Associated Diseases & Rule outs
Associated Disease & Complications
Ichthyosis
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
Pathophysiology
Pathophysiology/Gene locus 1q21
Pathophysiology/Gene locus Chromosome 1
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Maternal Chromosome mutation
Process
PROCESS/Eponymic (category)
PROCESS/Eponymic/Esoteric/Not yet integrated into database
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/Hereditary Multiple anomalies syndrome [EX]
PROCESS/INCIDENCE/Esoteric disease (example)
Definition

Gene locus 1q21; Vohwinkel syndrome: A genetic disorder characterized by hearing loss and thickened skin, particularly on the knuckles; The sensorineural hearing is mild-to-moderate in degree; The thickening of the skin (hyperkeratosis) can be "mutilating" and cause autoamputation of the digits [Ainhum]; The syndrome is inherited in an autosomal dominant manner;It is caused by mutation in the GJB2 gene (connexin 26); The mutation is the replacement of aspartic acid with histidine at position 66 in the protein"s chain of amino acids; This mutation is also written as Asp66His; Terminal keratinocyte differentiation involves coordinated expression of several functionally interdependent genes, many of which have been mapped to the epidermal differentiation complex on 1q21; [Vohwinkel syndrome]; Sequencing of the loricrin gene revealed an insertion mutation thought to be responsible for the impaired cornification; starfish keratoses with deafness but no ichthyosis, and the other with keratoderma and ichthyosis; Classic and variant forms of Vohwinkel syndrome are clinically and ultrastructurally distinct and that the classic form does not map to the loricrin locus; loricrin keratodermas with variant Vohwinkel syndrome and also progressive symmetric erythrokeratodermia; Some were initially diagnosed as having nonbullous congenital ichthyosiform erythroderma, but later developed palmoplantar keratoderma with pseudoainhum;

---------[OMIM November 2004]---------------

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External Links Related to Vohwinkel syndrome (1q21)
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PubMed (National Library of Medicine)
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Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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