| H01224 | |
| H number | H01224 |
| Name | Ketosis-prone diabetes mellitus |
| Description | Ketosis-prone diabetes (KPD) is a widespread, emerging, heterogeneous syndrome, mostly observed in subjects of west African origin (west Africans and African-Americans), characterized by patients who present with diabetic ketoacidosis or unprovoked ketosis but do not necessarily have the typical phenotype of autoimmune type 1 diabetes. Multiple, severe forms of beta-cell dysfunction appear to underlie the pathophysiology of KPD. KPD can be classified into four A beta groups, based on the presence of glutamic acid decarboxylase (GAD)65, GAD67, or IA-2 autoantibodies (A+ or A-) and beta-cell functional reserve (beta+ or beta-). Homozygous carriers of the PAX4 R133W variant have an increased risk of KPD. |
| Category | Endocrine and metabolic disease |
| Network | - |
| Gene | PAX4 [HSA:5078] [KO:K08032] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5A10 MeSH: D003922 OMIM: 612227 |
| Reference | PMID:16652336 AUTHORS Boutboul S, Black GC, Moore JE, Sinton J, Menasche M, Munier FL, Laroche L, Abitbol M, Schorderet DF TITLE A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3. JOURNAL Hum Mutat 27:553-7 (2006) DOI:10.1002/humu.20331 PMID:14602731 AUTHORS Maldonado M, Hampe CS, Gaur LK, D'Amico S, Iyer D, Hammerle LP, Bolgiano D, Rodriguez L, Rajan A, Lernmark A, Balasubramanyam A TITLE Ketosis-prone diabetes: dissection of a heterogeneous syndrome using an immunogenetic and beta-cell functional classification, prospective analysis, and clinical outcomes. JOURNAL J Clin Endocrinol Metab 88:5090-8 (2003) DOI:10.1210/jc.2003-030180 PMID:15509590 AUTHORS Mauvais-Jarvis F, Smith SB, Le May C, Leal SM, Gautier JF, Molokhia M, Riveline JP, Rajan AS, Kevorkian JP, Zhang S, Vexiau P, German MS, Vaisse C TITLE PAX4 gene variations predispose to ketosis-prone diabetes. JOURNAL Hum Mol Genet 13:3151-9 (2004) DOI:10.1093/hmg/ddh341 |