| H00942 | |
| H number | H00942 |
| Name | Rabson-Mendenhall syndrome |
| Description | 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. |
| Category | Endocrine and metabolic disease |
| Network | - |
| Gene | INSR [HSA:3643] [KO:K04527] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | For leprechaunism, a disorder with INSR mutations, see H00719. |
| Other DBs | ICD-11: 5A44 ICD-10: E13 MeSH: D056731 OMIM: 262190 |
| Reference | PMID:18717867 AUTHORS Parveen BA, Sindhuja R TITLE Rabson-Mendenhall syndrome. JOURNAL Int J Dermatol 47:839-41 (2008) DOI:10.1111/j.1365-4632.2008.03591.x PMID:21869538 (INSR) AUTHORS 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 TITLE Functional characterization of insulin receptor gene mutations contributing to Rabson-Mendenhall syndrome - phenotypic heterogeneity of insulin receptor gene mutations. JOURNAL Endocr J 58:931-40 (2011) DOI:10.1507/endocrj.EJ11-0032 |