KEGG   DISEASE: Insulin-resistant diabetes mellitus with acanthosis nigricans (IRAN)Help
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
Human diseases [BR:br08402]
 Endocrine and metabolic diseases
  Diabetes
   H01228  Insulin-resistant diabetes mellitus with acanthosis nigricans (IRAN)
Human diseases in ICD-10 classification [BR:br08403]
 4. Endocrine, nutritional and metabolic diseases (E00-E90)
  E10-E14  Diabetes mellitus
   E11  Type 2 diabetes mellitus
    H01228  Insulin-resistant diabetes mellitus with acanthosis nigricans (IRAN)
BRITE hierarchy
Pathway
hsa04520  Adherens junction
hsa04910  Insulin signaling pathway
hsa04930  Type II diabetes mellitus
hsa04960  Aldosterone-regulated sodium reabsorption
Gene
INSR [HSA:3643] [KO:K04527]
Other DBs
ICD-10: E11
MeSH: C562710
OMIM: 610549
Reference
PMID:22187472 (description, gene)
  Title
Diagnosis and classification of diabetes mellitus.
  Journal
Diabetes Care 35 Suppl 1:S64-71 (2012)
DOI:10.2337/dc12-s064
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)
DOI:10.1097/01.md.0000133625.73570.54

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