Details of Disease | DrugMAP

General Information of Disease (ID: DISV3SZX)

Disease Name	Multiple carboxylase deficiency
Synonyms	multiple carboxylase deficiency; MCD
Definition	Multiple carboxylase deficiency (MCD) is a term used to describe inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay.
Disease Hierarchy	DISCXXVK: Classic organic aciduria DISWSHRW: Inborn error of biotin metabolism DISV24X3: Carbohydrate metabolism disorder DISV3SZX: Multiple carboxylase deficiency
Disease Identifiers	MONDO ID MONDO_0015454 MESH ID D009100 UMLS CUI C0026755 MedGen ID 10119 Orphanet ID 148 SNOMED CT ID 1172966001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BTD	OTJYTQ69	Strong	Altered Expression	[1]
HLCS	OTPDUX30	Strong	Altered Expression	[1]
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References

1	Holocarboxylase synthetase deficiency: novel clinical and molecular findings.Clin Genet. 2010 Jul;78(1):88-93. doi: 10.1111/j.1399-0004.2009.01357.x. Epub 2009 Dec 2.