Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 26-06-2010
Symbol ED2
Location 13q12.11
Name ectodermal dysplasia 2, hidrotic
Other name(s) Clouston syndrome
Corresponding gene GJB6
Other symbol(s) HED
Main clinical features
  • hidrotic ectodermal dysplasia with normal sweat and sebaceous gland function, total alopecia, severe dystrophy of the nails, hyperpigmentation of the skin, especially over the joints, and normal teeth; associated to strabismus, mental deficiency, clubbing of the fingers and palmar hyperkeratosis
  • palmoplantar hyperkeratosis, hair defect (partial or alopecia), nail hypoplasia, and hearing loss
    • Genetic determination autosomal dominant
    Function/system disorder dermatology
    Type disease
    Gene product
    Name gap junction protein, beta 6, G11R or A88V mutation, gain of function
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    unknown   abnormal protein/gain of function G11R or A88V mutation, gain of function
    Remark(s)