Disorder "Epidermolysis bullosa simplex localized type"
Found 1 record
Disorder information
Disorder name:
Epidermolysis bullosa simplex localized type 
Disoder ID:
OMIM entry:
Synonyms:
epidermolysis bullosa simplex Weber-Cockayne type 
Definition:
An epidermolysis bullosa simplex that is characterized by skin blistering that begins anytime between childhood and adulthood and is usually limited to the hands and feet. 
Modifier statisitcs
Record:
Gene:
Variant:
Reference:
Effect type:
Expressivity(1)  
Modifier effect:
Altered severity(1)  
Modifier gene Variant Effect type Modifier effect Evidence Effect PubMed ID
KRT5 KRT5:rs11170164 Expressivity  Altered severity  Pedigree analysis  A recessively inherited mutation modulating the phenotypic expression of EBS caused by a partially dominant mutation and is important for accurate genetic counseling.more more
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