Details of Disease

General Information of Disease (ID: DISYBW5F)

Disease Name Fatal multiple mitochondrial dysfunctions syndrome
Synonyms MMDS; fatal multiple mitochondrial dysfunction syndrome; multiple mitochondrial dysfunctions syndrome
Definition
Multiple mitochondrial dysfunctions syndrome describes a group of rare inborn errors of energy metabolism due to defects in mitochondrial [4Fe-4S] protein assembly. Patients present with a neonatal/infancy onset of metabolic lactic acidosis (that may be associated with hyperglycinemia and other abnormal metabolic testing results), muscular hypotonia, absence of psychomotor development or developmental regression, as well as abnormal neuroimaging findings (including leukodystrophy, brain developmental defects, white matter abnormalities, cerebral atrophy), and other variable clinical features (e.g., optic atrophy, cardiomyopathy, pulmonary hypertension, seizures, and dysmorphic features). Early fatal outcome is usual.
Disease Hierarchy
DIS5L41Q: Inherited lipoic acid biosynthesis defect
DISYBW5F: Fatal multiple mitochondrial dysfunctions syndrome
Disease Identifiers
MONDO ID
MONDO_0017338
MESH ID
C565304
UMLS CUI
C3502075
MedGen ID
502474
Orphanet ID
289573
SNOMED CT ID
720827002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
BOLA3 OTDEDY0S Strong Biomarker [1]
ISCA1 OTU230MC Strong Genetic Variation [2]
ISCA2 OTKQKNTC Strong Genetic Variation [3]
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References

1 Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.Brain. 2016 Nov 1;139(11):2844-2854. doi: 10.1093/brain/aww221.
2 Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.J Hum Genet. 2017 Jul;62(7):723-727. doi: 10.1038/jhg.2017.35. Epub 2017 Mar 30.
3 Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. Cell Rep. 2015 Jan 13;10(2):148-61. doi: 10.1016/j.celrep.2014.12.015. Epub 2014 Dec 31.