| H00942 | |
| H番号 | H00942 |
| 名称 | ラブソン・メンデンホール症候群 |
| 概要 | Rabson-Mendenhall syndrome (RMS) is a rare disorder involving severe insulin resistance due to mutations in the insulin receptor (INSR) gene. Obligatory symptoms are extreme hyperinsulinemia and profound insulin-resistance diabetes. Additional characteristics of RMS can include acanthosis nigricans, polycystic ovarian disease, hirsutism, precocity, pineal hyperplasia, and thick nails. |
| カテゴリ | 内分泌代謝疾患 |
| ネットワーク | - |
| 病因遺伝子 | INSR [HSA:3643] [KO:K04527] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | メカセルミン [DR:D03297] |
| コメント | For leprechaunism, a disorder with INSR mutations, see H00719. |
| リンク | ICD-11: 5A44 ICD-10: E13 MeSH: D056731 OMIM: 262190 |
| 文献 | PMID:18717867 著者 Parveen BA, Sindhuja R タイトル Rabson-Mendenhall syndrome. 雑誌 Int J Dermatol 47:839-41 (2008) DOI:10.1111/j.1365-4632.2008.03591.x PMID:21869538 (INSR) 著者 Jiang S, Fang Q, Zhang F, Wan H, Zhang R, Wang C, Bao Y, Zhang L, Ma X, Lu J, Gao F, Xiang K, Jia W タイトル Functional characterization of insulin receptor gene mutations contributing to Rabson-Mendenhall syndrome - phenotypic heterogeneity of insulin receptor gene mutations. 雑誌 Endocr J 58:931-40 (2011) DOI:10.1507/endocrj.EJ11-0032 |