KEGG   DISEASE: H01228Help
Entry
H01228                      Disease                                

Name
Insulin-resistant diabetes mellitus with acanthosis nigricans (IRAN);
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
BRITE hierarchy
Pathway
Adherens junction
Insulin signaling pathway
Type II diabetes mellitus
Aldosterone-regulated sodium reabsorption
Gene
INSR [HSA:3643] [KO:K04527]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
PMID:22187472 (description, gene)
  Title
Diagnosis and classification of diabetes mellitus.
  Journal
Diabetes Care 35 Suppl 1:S64-71 (2012)
Reference
PMID:15232309 (description, gene)
  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)

» Japanese version

DBGET integrated database retrieval system