Details of Disease | DrugMAP

General Information of Disease (ID: DIS4JQQ8)

Disease Name	Maleylacetoacetate isomerase deficiency
Synonyms	hypersuccinylacetonemia, mild; MAAI deficiency; MAAID; benign hypersuccinylacetonemia; maleylacetoacetate isomerase deficiency
Disease Hierarchy	DISYKSRF: Genetic disease DIS4JQQ8: Maleylacetoacetate isomerase deficiency
Disease Identifiers	MONDO ID MONDO_0060527 UMLS CUI C1291607 OMIM ID 617596 MedGen ID 713903 SNOMED CT ID 124664006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
GSTZ1	DEQPEMB	Moderate	Autosomal recessive	[1]
GSTZ1	DEQPEMB	moderate	Genetic Variation	[2]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GSTZ1	OTQ43JCE	Moderate	Autosomal recessive	[1]
FAH	OTGZA1YR	Strong	Genetic Variation	[3]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
2	Hypersuccinylacetonaemia and normal liver function in maleylacetoacetate isomerase deficiency.J Med Genet. 2017 Apr;54(4):241-247. doi: 10.1136/jmedgenet-2016-104289. Epub 2016 Nov 22.
3	Mildly elevated succinylacetone and normal liver function in compound heterozygotes with pathogenic and pseudodeficient FAH alleles.Mol Genet Metab Rep. 2017 Dec 27;14:55-58. doi: 10.1016/j.ymgmr.2017.12.002. eCollection 2018 Mar.