Details of Disease

General Information of Disease (ID: DIS5FF5P)

Disease Name Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3
Synonyms
CEMCOX3; COA5 fatal infantile encephalocardiomyopathy; mitochondrial complex IV, deficiency, nuclear type 9; cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 3; fatal infantile encephalocardiomyopathy caused by mutation in COA5; cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3
Definition Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COA5 gene.
Disease Hierarchy
DISOBOCR: Fatal infantile encephalocardiomyopathy
DIS5FF5P: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3
Disease Identifiers
MONDO ID
MONDO_0014667
UMLS CUI
C4225154
OMIM ID
616500
MedGen ID
903495

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
COA5 OTK12EG7 Limited Unknown [1]
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References

1 Accuracy of measures of temporomandibular joint space and condylar position with three tomographic imaging techniques. Oral Surg Oral Med Oral Pathol. 1991 Sep;72(3):364-70. doi: 10.1016/0030-4220(91)90234-4.