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:
1
Gene:
1
Variant:
1
Reference:
1
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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