obesity due to SIM1 deficiency
MONDO:0018244Mondo
Findings
No curated finding names obesity due to SIM1 deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
13 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.
- Abnormal autonomic nervous system physiologyHPOHP:0012332
- Very frequent (80% to 99% of cases)
- Cognitive impairmentHPOHP:0100543
- Very frequent (80% to 99% of cases)
- Decreased circulating vitamin B1 concentrationHPOHP:0100503
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- HyperinsulinemiaHPOHP:0000842
- Very frequent (80% to 99% of cases)
- HypotensionHPOHP:0002615
- 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)
- Postural hypotension with compensatory tachycardiaHPOHP:0005307
- Very frequent (80% to 99% of cases)
- Attention deficit hyperactivity disorderHPOHP:0007018
- Frequent (30% to 79% of cases)
- Memory impairmentHPOHP:0002354
- Frequent (30% to 79% of cases)
- Autistic behaviorHPOHP:0000729
- Occasional (5% to 29% of cases)
Reported absent (4)
- Feeding difficultiesHPOHP:0011968
- HypotoniaHPOHP:0001252
- Increased resting energy expenditureHPOHP:0012339
- Short statureHPOHP:0004322
Show the remaining 1
- Glucose intoleranceHPOHP:0001952
- Occasional (5% to 29% of cases)
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.
- SIM1HGNC:10882
- Definitive · G2P · Autosomal dominant · 2019
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of