Obesity due to pro-opiomelanocortin deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: OBESITY, EARLY-ONSET, ADRENAL INSUFFICIENCY, AND RED HAIR
POMC deficiency
Number of Symptoms 7
OrphanetNr: 71526
OMIM Id: 609734
ICD-10: E66.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 7 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Obesity due to congenital leptin resistance
 -Rare endocrine disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0002173) Hypoglycemic seizures 19 / 7739
2
 (HPO:0011748) Adrenocorticotropic hormone deficiency 2 / 7739
3
 (HPO:0000846) Adrenal insufficiency 24 / 7739
4
 (HPO:0001396) Cholestasis 136 / 7739
5
 (HPO:0001513) Obesity 172 / 7739
6
 (HPO:0002297) Red hair 9 / 7739
7
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Krude et al. (1998) observed an unrelated 3-year-old girl and 5-year-old boy who had obesity, red hair pigmentation, and ACTH deficiency. The girl had normal weight at birth and developed cholestasis at 3 weeks of age. Because of ...
Molecular genetics OMIM In an unrelated 3-year-old girl and 5-year-old boy with obesity, red hair pigmentation, and adrenal insufficiency, Krude et al. (1998) identified compound heterozygosity (176830.0001 and 176830.0002) and homozygosity (176830.0003), respectively, for mutations in the POMC gene.

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