| H00642 | |
| H番号 | H00642 |
| 名称 | LADD 症候群; レビーホリスター症候群 |
| 概要 | Lacrimo-auriculo-dento-digital (LADD) syndrome is an autosomal dominant disorder characterized by hypoplasia or aplasia of the lacrimal and salivary glands, cup shaped pinnae with sensorineural deafness, dental abnormalities with small teeth, and radial ray abnormalities in hands. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | (LADD1) FGFR2 [HSA:2263] [KO:K05093] (LADD2) FGFR3 [HSA:2261] [KO:K05094] (LADD3) FGF10 [HSA:2255] [KO:K04358] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD27.0Y ICD-10: Q87.8 MeSH: C538132 OMIM: 149730 620192 620193 |
| 文献 | PMID:8411061 著者 Lacombe D, Serville F, Marchand D, Battin J タイトル Split hand/split foot deformity and LADD syndrome in a family: overlap between the EEC and LADD syndromes. 雑誌 J Med Genet 30:700-3 (1993) DOI:10.1136/jmg.30.8.700 PMID:17682060 (FGF10, FGFR2) 著者 Shams I, Rohmann E, Eswarakumar VP, Lew ED, Yuzawa S, Wollnik B, Schlessinger J, Lax I タイトル Lacrimo-auriculo-dento-digital syndrome is caused by reduced activity of the fibroblast growth factor 10 (FGF10)-FGF receptor 2 signaling pathway. 雑誌 Mol Cell Biol 27:6903-12 (2007) DOI:10.1128/MCB.00544-07 PMID:16501574 (FGF10, FGFR2, FGFR3) 著者 Rohmann E, Brunner HG, Kayserili H, Uyguner O, Nurnberg G, Lew ED, Dobbie A, Eswarakumar VP, Uzumcu A, Ulubil-Emeroglu M, Leroy JG, Li Y, Becker C, Lehnerdt K, Cremers CW, Yuksel-Apak M, Nurnberg P, Kubisch C, Schlessinger J, van Bokhoven H, Wollnik B タイトル Mutations in different components of FGF signaling in LADD syndrome. 雑誌 Nat Genet 38:414-7 (2006) DOI:10.1038/ng1757 |