insulin-resistance syndrome type A
Findings
No curated finding names insulin-resistance syndrome type A yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0012520), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
18 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Acanthosis nigricansHPOHP:0000956
- 2 of 2 reported patients
- AmenorrheaHPOHP:0000141
- 1 of 1 reported patient
- Epidermal acanthosisHPOHP:0025092
- 1 of 1 reported patient
- Fasting hyperinsulinemiaHPOHP:0008283
- 2 of 2 reported patients
- HirsutismHPOHP:0001007
- 1 of 1 reported patient
- Impaired glucose toleranceHPOHP:0040270
- 2 of 2 reported patients
- Increased circulating androgen concentrationHPOHP:0030348
Show the remaining 6
- Generalized hirsutismHPOHP:0002230
- Very frequent (80% to 99% of cases)
- Generalized hyperpigmentationHPOHP:0007440
- Very frequent (80% to 99% of cases)
- HyperkeratosisHPOHP:0000962
- Very frequent (80% to 99% of cases)
- Subcutaneous noduleHPOHP:0001482
- Very frequent (80% to 99% of cases)
- Type II diabetes mellitusHPOHP:0005978
- Very frequent (80% to 99% of cases)
- Impaired fasting glucoseHPOHP:0025691
- 0 of 1 reported patient
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- INSRHGNC:6091
- Definitive · G2P · Autosomal dominant · 2025
- Definitive · ClinGen · Autosomal dominant · 2026
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
Where it sits
Other names
2 names
Resolves to: insulin-resistance syndrome type A
- Also called
- insulin resistant diabetes mellitus with acanthosis nigricans and hyperandrogenismtype A insulin resistance syndrome