Details of Disease | DrugMAP

General Information of Disease (ID: DISTIUPO)

Disease Name	Multiple mitochondrial dysfunctions syndrome 3
Synonyms	MMDS3; multiple mitochondrial dysfunctions syndrome type 3; fatal multiple mitochondrial dysfunctions syndrome caused by mutation in IBA57; multiple mitochondrial dysfunctions syndrome 3; IBA57 fatal multiple mitochondrial dysfunctions syndrome; IBA57 deficiency
Definition	Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the IBA57 gene.
Disease Hierarchy	DISYBW5F: Fatal multiple mitochondrial dysfunctions syndrome DISTIUPO: Multiple mitochondrial dysfunctions syndrome 3
Disease Identifiers	MONDO ID MONDO_0014132 UMLS CUI C3809165 OMIM ID 615330 MedGen ID 815495 Orphanet ID 363424 SNOMED CT ID 1208620009

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
IBA57	OT9SPG2X	Strong	Autosomal recessive	[1]
ISCA2	OTKQKNTC	Definitive	Genetic Variation	[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.