Details of Disease | DrugMAP

General Information of Disease (ID: DIS42DWP)

Disease Name	Multiple mitochondrial dysfunctions syndrome 4
Synonyms	MMDS4; multiple mitochondrial dysfunctions syndrome type 4; fatal multiple mitochondrial dysfunctions syndrome caused by mutation in ISCA2; ISCA2 fatal multiple mitochondrial dysfunctions syndrome; multiple mitochondrial dysfunctions syndrome 4
Definition	Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the ISCA2 gene.
Disease Hierarchy	DISVY1TT: Leukodystrophy DIS1L24B: Eye degenerative disorder DISYBW5F: Fatal multiple mitochondrial dysfunctions syndrome DIS42DWP: Multiple mitochondrial dysfunctions syndrome 4
Disease Identifiers	MONDO ID MONDO_0014611 UMLS CUI C4225348 OMIM ID 616370 MedGen ID 899010 Orphanet ID 457406 SNOMED CT ID 1208621008

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
ISCA2	OTKQKNTC	Strong	Autosomal recessive	[1]
IBA57	OT9SPG2X	Definitive	Biomarker	[2]
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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	ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe-4S] proteins.Hum Mol Genet. 2018 Aug 1;27(15):2739-2754. doi: 10.1093/hmg/ddy183.