DISEASE: Insulin-resistant diabetes mellitus with acanthosis nigricans
Entry
H01228 Disease
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
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Endocrine diseases
Diabetes mellitus
5A13 Diabetes mellitus, other specified type
H01228 Insulin-resistant diabetes mellitus with acanthosis nigricans
Pathway-based classification of diseases [BR:br08402]
Endocrine system
nt06325 Hormone/cytokine signaling
H01228 Insulin-resistant diabetes mellitus with acanthosis nigricans
