ORPHA:71526
Obesity due to pro-opiomelanocortin deficiency
Synonyms: POMC deficiency
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Pro-opiomelanocortin (POMC) deficiency is a form of monogenic obesity resulting in severe early-onset obesity, adrenal insufficiency, red hair and pale skin.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Obesity due to pro-opiomelanocortin deficiency | POMC deficiency |
| fr | Obésité par déficit en pro-opiomélanocortine | Déficit en POMC |
| de | Adipositas durch Proopiomelanocortin-Mangel | |
| es | Obesidad por deficiencia de pro-opiomelanocortin | |
| it | Obesità da deficit di pro-opiomelanocortina | Deficit di POMC |
| nl | Obesitas door deficiëntie van pro-opiomelanocortine | POMC-deficiëntie |
| pt | Obesidade por deficiência de pro-opiomelanocortina | Deficiência de POMC |
| pl | Otyłość spowodowana niedoborem proopiomelanokortyny | Niedobór POMC |
| cs | Obezita způsobená deficitem proopiomelanokortinu | Deficit POMC |
| uk | Ожиріння через дефіцит проопіомеланокортину | Дефіцит POMC |
| zh | 前阿黑皮素缺乏所致肥胖症 | POMC缺乏 |
| tr | Pro-opiomelanokortin eksikliğine bağlı obezite | POMC eksikliği |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601665 | NTBT | validated | |
| OMIM | 609734 | E | validated | |
| ICD-10 | E66.8 | NTBT | attributed | validated |
| ICD-11 | 5B81.Y | NTBT | index | validated |
| MONDO | 0012335 | E | validated | |
| MeSH | C565726 | E | validated | |
| UMLS | C1857854 | E | validated | |
| GARD | 10823 | E | validated | |
| MedDRA | 10083937 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:179490Obesity due to congenital leptin resistance
rare genetic diseases; rare endocrine diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| POMC | Disease-causing germline mutation(s) in | Assessed | HGNC:9201 | ENSG00000115138 | 176830 | 2p23.3 | proopiomelanocortin | 24354022[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 16150380[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
18 annotations · validated 2017-03-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0009126 | Increased adipose tissue | |
| HP:0001513 | Obesity | |
| Very frequent (99-80%) | ||
| HP:0002591 | Polyphagia | |
| Frequent (79-30%) | ||
| HP:0011734 | Central adrenal insufficiency | |
| HP:0008915 | Childhood-onset truncal obesity | |
| HP:0001396 | Cholestasis | |
| HP:0001010 | Hypopigmentation of the skin | |
| HP:0002297 | Red hair | |
| Occasional (29-5%) | ||
| HP:0000956 | Acanthosis nigricans | |
| HP:0000824 | Decreased response to growth hormone stimulation test | |
| HP:0000823 | Delayed puberty | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0001508 | Failure to thrive | |
| HP:0008213 | Gonadotropin deficiency | |
| HP:0001510 | Growth delay | |
| HP:0000842 | Hyperinsulinemia | |
| HP:0002173 | Hypoglycemic seizures | |
| HP:0008245 | Pituitary hypothyroidism | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 27468060[PMID]_16936203[PMID]_14557433[PMID]_9620771[PMID]_9771698[PMID]_15703762[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/71526
- This record as JSON: /data/d/71526.json