| H00706 | |
| H number | H00706 |
| 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 |
| Network | - |
| Gene | GJB2 [HSA:2706] [KO:K07621] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD2H.Y ICD-10: Q82.8 MeSH: C537210 OMIM: 149200 |
| Reference | PMID:8151643 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 PMID:15952212 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 PMID:15482471 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 PMID:19939300 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 |