severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
MONDO:0017994Mondo
Findings
No curated finding names severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
8 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.
- HyperinsulinemiaHPOHP:0000842
- Very frequent (80% to 99% of cases)
- ObesityHPOHP:0001513
- Very frequent (80% to 99% of cases)
- PolyphagiaHPOHP:0002591
- Very frequent (80% to 99% of cases)
- Reduced social responsivenessHPOHP:0012760
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- Aggressive behaviorHPOHP:0000718
- Frequent (30% to 79% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Frequent (30% to 79% of cases)
- No social interactionHPOHP:0008763
- Frequent (30% to 79% of cases)
Reported absent (3)
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- HyperglycemiaHPOHP:0003074
- HyperlipidemiaHPOHP:0003077
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.
- SH2B1HGNC:30417
- Moderate · Genomics England PanelApp · Autosomal dominant · 2020
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · LiferaOmics · Autosomal recessive · 2026
Where it sits
- A kind of