Rabson-Mendenhall syndrome
Findings
No curated finding names Rabson-Mendenhall syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Rabson-Mendenhall syndrome belongs to the group of extreme insulin-resistance syndromes (which also includes leprechaunism, the lipodystrophies, and the type A and B insulin resistance syndromes).
Definition from the Mondo Disease Ontology (MONDO:0009874), read 2026-09-29. CC BY 4.0.
Features
56 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.
- Abnormality of the dentitionHPOHP:0000164
- Frequent (30% to 79% of cases)
- Acanthosis nigricansHPOHP:0000956
- Frequent (30% to 79% of cases)
- Clitoral hypertrophyHPOHP:0008665
- Frequent (30% to 79% of cases)
- Dental crowdingHPOHP:0000678
- Frequent (30% to 79% of cases)
- Dry skinHPOHP:0000958
- Frequent (30% to 79% of cases)
- Elevated circulating C-peptide concentrationHPOHP:0030796
- Frequent (30% to 79% of cases)
- Enlarged ovariesHPOHP:0100879
- Frequent (30% to 79% of cases)
- Fasting hyperinsulinemiaHPOHP:0008283
- Frequent (30% to 79% of cases)
- Fasting hypoglycemiaHPOHP:0003162
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- Frequent (30% to 79% of cases)
- HirsutismHPOHP:0001007
- Frequent (30% to 79% of cases)
- HypertrichosisHPOHP:0000998
- Frequent (30% to 79% of cases)
Show the remaining 44
- Increased circulating androgen concentrationHPOHP:0030348
- Frequent (30% to 79% of cases)
- Increased serum testosterone levelHPOHP:0030088
- Frequent (30% to 79% of cases)
- Insulin resistanceHPOHP:0000855
- Frequent (30% to 79% of cases)
- Insulin-resistant diabetes mellitusHPOHP:0000831
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
- Intrauterine growth retardationHPOHP:0001511
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
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021