Details of Disease

General Information of Disease (ID: DIS8NI3R)

Disease Name Insulin-resistance syndrome type A
Synonyms
insulin-resistant acanthosis nigricans, type A; Iran, type a; diabetes mellitus, insulin-resistant, with acanthosis nigricans, type a; insulin receptor, defect in, with insulin-resistant diabetes mellitus and acanthosis nigricans; diabetes mellitus, insulin-resistant, with acanthosis nigricans; insulin resistant diabetes mellitus with acanthosis nigricans and hyperandrogenism; type A insulin resistance syndrome
Definition
Type A insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome and type B insulin resistance syndrome) and is characterized by the triad of hyperinsulinemia, acanthosis nigricans (skin lesions associated with insulin resistance), and signs of hyperandrogenism in females without lipodystrophy and who are not overweight.
Disease Hierarchy
DISYKSRF: Genetic disease
DIS3VD5T: Endocrine pancreas disorder
DIS8NI3R: Insulin-resistance syndrome type A
Disease Identifiers
MONDO ID
MONDO_0012520
MESH ID
C562710
UMLS CUI
C0342278
OMIM ID
610549
MedGen ID
501111
Orphanet ID
2297
SNOMED CT ID
237606005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
INSR TTCBFJO Strong Autosomal dominant [1]
INSR TTCBFJO Strong Genetic Variation [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
INSR OTTY341H Strong Autosomal dominant [1]
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References

1 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
2 Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance.Diabetes. 2017 Oct;66(10):2713-2723. doi: 10.2337/db17-0301. Epub 2017 Aug 1.