obesity due to pro-opiomelanocortin deficiency
Findings
No curated finding names obesity due to pro-opiomelanocortin deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Pro-opiomelanocortin (POMC) deficiency is a form of monogenic obesity resulting in severe early-onset obesity, adrenal insufficiency, red hair and pale skin.
Definition from the Mondo Disease Ontology (MONDO:0012335), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
21 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.
- Adrenocorticotropic hormone deficiencyHPOHP:0011748
- 2 of 2 reported patients
- Decreased circulating cortisol levelHPOHP:0008163
- 2 of 2 reported patients
- Increased adipose tissueHPOHP:0009126
- Obligate (100% of cases)
- ObesityHPOHP:0001513
- 2 of 2 reported patients
- Obligate (100% of cases)
- Red hairHPOHP:0002297
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- PolyphagiaHPOHP:0002591
- 1 of 2 reported patients
- Very frequent (80% to 99% of cases)
Show the remaining 9
- Decreased response to growth hormone stimulation testHPOHP:0000824
- Occasional (5% to 29% of cases)
- Delayed pubertyHPOHP:0000823
- Occasional (5% to 29% of cases)
- Delayed skeletal maturationHPOHP:0002750
- Occasional (5% to 29% of cases)
- Failure to thriveHPOHP:0001508
- Occasional (5% to 29% of cases)
- Gonadotropin deficiencyHPOHP:0008213
- Occasional (5% to 29% of cases)
- Growth delayHPOHP:0001510
- 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.
- POMCHGNC:9201
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2023
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: obesity due to pro-opiomelanocortin deficiency
- Also called
- obesity, adrenal insufficiency, and red hair due to POMC deficiencyPOMC Deficiency