Details of Disease | DrugMAP

General Information of Disease (ID: DISP8JN4)

Disease Name	Obesity due to melanocortin 4 receptor deficiency
Synonyms	MC4R deficiency
Definition	Melanocortin 4 receptor (MC4R) deficiency is the commonest form of monogenic obesity identified so far. MC4R deficiency is characterized by severe obesity, an increase in lean body mass and bone mineral density, increased linear growth in early childhood, hyperphagia beginning in the first year of life and severe hyperinsulinaemia, in the presence of preserved reproductive function.
Disease Hierarchy	DISVH4OT: Inherited obesity DISP8JN4: Obesity due to melanocortin 4 receptor deficiency
Disease Identifiers	MONDO ID MONDO_0019115 UMLS CUI C4273958 MedGen ID 903905 Orphanet ID 71529 SNOMED CT ID 717269008

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
MC4R	TTD0CIQ	Supportive	Autosomal dominant	[1]
MC4R	TTD0CIQ	Strong	GermlineCausalMutation	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MC4R	OT7WIVBK	Supportive	Autosomal dominant	[1]
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References

1	Dominant and recessive inheritance of morbid obesity associated with melanocortin 4 receptor deficiency. J Clin Invest. 2000 Jul;106(2):271-9. doi: 10.1172/JCI9397.