| H01228 | |
| H number | H01228 |
| Name | Insulin-resistant diabetes mellitus with acanthosis nigricans; Type A insulin resistance |
| Description | 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. |
| Category | Metabolic disease; Endocrine disease |
| Network | - |
| Gene | INSR [HSA:3643] [KO:K04527] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5A13.1 ICD-10: E11 MeSH: C562710 OMIM: 610549 |
| Reference | PMID:22187472 TITLE Diagnosis and classification of diabetes mellitus. JOURNAL Diabetes Care 35 Suppl 1:S64-71 (2012) DOI:10.2337/dc12-s064 PMID:15232309 (INSR) AUTHORS Musso C, Cochran E, Moran SA, Skarulis MC, Oral EA, Taylor S, Gorden P TITLE Clinical course of genetic diseases of the insulin receptor (type A and Rabson-Mendenhall syndromes): a 30-year prospective. JOURNAL Medicine (Baltimore) 83:209-22 (2004) DOI:10.1097/01.md.0000133625.73570.54 |