Details of Disease | DrugMAP

General Information of Disease (ID: DISM0UQF)

Disease Name	Obesity due to pro-opiomelanocortin deficiency
Synonyms	obesity, early-onset, with adrenal insufficiency and RED hair; PROOPIOMELANOCORTIN deficiency; OBAIRH; obesity, early-onset, adrenal insufficiency, and Red hair; obesity, early-onset, with adrenal insufficiency and Red hair; POMC Deficiency; POMC deficiency; obesity, adrenal insufficiency, and red hair due to POMC deficiency
Definition	Pro-opiomelanocortin (POMC) deficiency is a form of monogenic obesity resulting in severe early-onset obesity, adrenal insufficiency, red hair and pale skin.
Disease Hierarchy	DISVH4OT: Inherited obesity DISM0UQF: Obesity due to pro-opiomelanocortin deficiency
Disease Identifiers	MONDO ID MONDO_0012335 MESH ID C565726 UMLS CUI C1857854 OMIM ID 609734 MedGen ID 341863 Orphanet ID 71526 SNOMED CT ID 702949005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
POMC	TT21AKM	Strong	Autosomal recessive	[1]
POMC	TT21AKM	Strong	Biomarker	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
POMC	OTV41F7T	Strong	Autosomal recessive	[1]
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References

1	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
2	A novel mutation in the proopiomelanocortin (POMC) gene of a Hispanic child: metformin treatment shows a beneficial impact on the body mass index.J Pediatr Endocrinol Metab. 2018 Jul 26;31(7):815-819. doi: 10.1515/jpem-2017-0467.