| H00706 | |
| H番号 | H00706 |
| 名称 | Bart-Pumphrey 症候群 |
| 概要 | 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. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | GJB2 [HSA:2706] [KO:K07621] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD2H.Y ICD-10: Q82.8 MeSH: C537210 OMIM: 149200 |
| 文献 | PMID:8151643 著者 Ramer JC, Vasily DB, Ladda RL タイトル Familial leuconychia, knuckle pads, hearing loss, and palmoplantar hyperkeratosis: an additional family with Bart-Pumphrey syndrome. 雑誌 J Med Genet 31:68-71 (1994) DOI:10.1136/jmg.31.1.68 PMID:15952212 著者 Alexandrino F, Sartorato EL, Marques-de-Faria AP, Steiner CE タイトル G59S mutation in the GJB2 (connexin 26) gene in a patient with Bart-Pumphrey syndrome. 雑誌 Am J Med Genet A 136:282-4 (2005) DOI:10.1002/ajmg.a.30822 PMID:15482471 著者 Richard G, Brown N, Ishida-Yamamoto A, Krol A タイトル Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2. 雑誌 J Invest Dermatol 123:856-63 (2004) DOI:10.1111/j.0022-202X.2004.23470.x PMID:19939300 著者 Lee JR, White TW タイトル Connexin-26 mutations in deafness and skin disease. 雑誌 Expert Rev Mol Med 11:e35 (2009) DOI:10.1017/S1462399409001276 |