obesity due to pro-opiomelanocortin deficiency

MeSH: C565726ORPHA: 71526

Overview

Pro-opiomelanocortin (POMC) deficiency is a form of monogenic obesity resulting in severe early-onset obesity, adrenal insufficiency, red hair and pale skin

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with obesity due to pro-opiomelanocortin deficiency, sourced from HPO and Orphanet clinical annotations.

ObesityIncreased adipose tissuePolyphagiaHypopigmentation of the skinCholestasisRed hairChildhood-onset truncal obesityCentral adrenal insufficiencyDelayed pubertyDecreased response to growth hormone stimulation testHyperinsulinemiaAcanthosis nigricansFailure to thriveGrowth delayHypoglycemic seizuresDelayed skeletal maturationGonadotropin deficiencyPituitary hypothyroidism

Classification & Codes

MeSH Code

C565726

Orphanet Code

ORPHA:71526
obesity due to pro-opiomelanocortin deficiency
MeSHC565726
OrphanetORPHA:71526
Treatments0 drug(s)
Symptoms on record18 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO