early-onset obesity, adrenal insufficiency, and red hair

Term ID

DOID:0051068

Synonyms

• POMC deficiency
• pro-opiomelanocortin deficiency
• proopiomelanocortin deficiency syndrome

Definition

A syndrome that is characterized by early-onset obesity due to severe hyperphagia, pigmentary abnormalities, mainly pale skin and red hair, and secondary hypocortisolism and that has_material_basis_in homozygous or compound heterozygous mutation in the POMC gene on chromosome 2p23. (2)

References

• GARD:10823
• MIM:609734

Ontology

Human Disease   ( DOID:0051068 )