Details of Disease | DrugMAP

General Information of Disease (ID: DISABZ3A)

Disease Name	Multiple mitochondrial dysfunctions syndrome 1
Synonyms	MMDS1; Mmds; multiple mitochondrial dysfunctions syndrome type 1; multiple mitochondrial dysfunctions syndrome 1; NFU1 fatal multiple mitochondrial dysfunctions syndrome; NFU1 deficiency; fatal multiple mitochondrial dysfunctions syndrome caused by mutation in NFU1
Definition	Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the NFU1 gene.
Disease Hierarchy	DISYBW5F: Fatal multiple mitochondrial dysfunctions syndrome DISABZ3A: Multiple mitochondrial dysfunctions syndrome 1
Disease Identifiers	MONDO ID MONDO_0011582 UMLS CUI C3276432 OMIM ID 605711 MedGen ID 478062 Orphanet ID 401869 SNOMED CT ID 1208485009

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
BOLA3	OTDEDY0S	Definitive	Biomarker	[1]
NFU1	OTL58QZS	Definitive	Autosomal recessive	[2]
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References

1	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.
2	A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins. Am J Hum Genet. 2011 Nov 11;89(5):656-67. doi: 10.1016/j.ajhg.2011.10.005.