Details of Disease | DrugMAP

General Information of Disease (ID: DISKL869)

Disease Name	Fumaric aciduria
Synonyms	FMRD; fumarate hydratase deficiency; fumaric aciduria; fumarase deficiency
Definition	Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment.
Disease Hierarchy	DISP5E0H: Inborn mitochondrial metabolism disorder DISSYRHC: Hereditary peripheral neuropathy DISB4I0S: Tricarboxylic acid cycle disorder DISKL869: Fumaric aciduria
Disease Identifiers	MONDO ID MONDO_0011730 MESH ID C538191 UMLS CUI C0342770 OMIM ID 606812 MedGen ID 87458 Orphanet ID 24 SNOMED CT ID 124616002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ACO2	TTMTF2P	Strong	Biomarker	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FH	OTEQWU6Q	Definitive	Autosomal recessive	[2]
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References

1	Inhibition of mitochondrial aconitase by succination in fumarate hydratase deficiency.Cell Rep. 2013 Mar 28;3(3):689-700. doi: 10.1016/j.celrep.2013.02.013. Epub 2013 Mar 14.
2	Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency. J Clin Invest. 1994 Jun;93(6):2514-8. doi: 10.1172/JCI117261.