KEGG DISEASE: Bart-Pumphrey syndrome

KEGG

DISEASE: Bart-Pumphrey syndrome

Entry

H00706                      Disease

Name

Bart-Pumphrey syndrome

Description

Bart-Pumphrey syndrome is an autosomal dominant disorder characterized by congenital deafness and palmoplantar hyperkeratosis. Patients also display knuckle pads and leukonychia. GJB2, the gene encoding connexin-26, is mutated in the disease.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2H  Syndromic genetic deafness
    H00706  Bart-Pumphrey syndrome

Gene

GJB2 [HSA:2706] [KO:K07621]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Ramer JC, Vasily DB, Ladda RL

Title

Familial leuconychia, knuckle pads, hearing loss, and palmoplantar hyperkeratosis: an additional family with Bart-Pumphrey syndrome.

Journal

J Med Genet 31:68-71 (1994)
DOI:10.1136/jmg.31.1.68

Reference

Authors

Alexandrino F, Sartorato EL, Marques-de-Faria AP, Steiner CE

Title

G59S mutation in the GJB2 (connexin 26) gene in a patient with Bart-Pumphrey syndrome.

Journal

Am J Med Genet A 136:282-4 (2005)
DOI:10.1002/ajmg.a.30822

Reference

Authors

Richard G, Brown N, Ishida-Yamamoto A, Krol A

Title

Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2.

Journal

J Invest Dermatol 123:856-63 (2004)
DOI:10.1111/j.0022-202X.2004.23470.x

Reference

Authors

Lee JR, White TW

Title

Connexin-26 mutations in deafness and skin disease.

Journal

Expert Rev Mol Med 11:e35 (2009)
DOI:10.1017/S1462399409001276

LinkDB

» Japanese version

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