| H01228 | |
| H番号 | H01228 |
| 名称 | タイプ A インスリン受容体異常症 |
| 概要 | Insulin-resistant diabetes mellitus with acanthosis nigricans (IRAN) is an unusual cause of diabetes that result from metabolic abnormalities associated with mutations of the insulin receptor (INSR) gene, characterized by phenotypic description of extreme insulin resistance, acanthosis nigricans, and hyperandrogenism. Other phenotype of IRAN form includes hirsutism and polycystic ovarian disease in a patient who is usually not obese. There is no distinctive serum marker. Leprechaunism [DS:H00719] and the Rabson-Mendenhall syndrome [DS:H00942] also have mutations in INSR with subsequent alterations in insulin receptor function and extreme insulin resistance. |
| カテゴリ | - |
| 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 | - |
| リンク | ICD-11: 5A13.1 ICD-10: E11 MeSH: C562710 OMIM: 610549 |
| 文献 | PMID:22187472 タイトル Diagnosis and classification of diabetes mellitus. 雑誌 Diabetes Care 35 Suppl 1:S64-71 (2012) DOI:10.2337/dc12-s064 PMID:15232309 (INSR) 著者 Musso C, Cochran E, Moran SA, Skarulis MC, Oral EA, Taylor S, Gorden P タイトル Clinical course of genetic diseases of the insulin receptor (type A and Rabson-Mendenhall syndromes): a 30-year prospective. 雑誌 Medicine (Baltimore) 83:209-22 (2004) DOI:10.1097/01.md.0000133625.73570.54 |