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Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency
1 associated gene
6 connected diseases
No signs/symptoms info
Disease Type of connection
Isolated NADH-CoQ reductase deficiency
Leigh syndrome with leukodystrophy
AICA-ribosiduria
Leber hereditary optic neuropathy
MELAS syndrome
Maternally-inherited Leigh syndrome
Synonym(s):
- Fatal infantile HCM due to mitochondrial complex I deficiency
- Fatal infantile hypertrophic cardiomyopathy due to NADH-CoQ reductase deficiency
- Fatal infantile hypertrophic cardiomyopathy due to NADH-coenzyme Q reductase deficiency
Classification (Orphanet):
- Inborn errors of metabolism
- Rare cardiac disease
- Rare genetic disease
Classification (ICD10):
- Diseases of the circulatory system -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal dominant
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
NDUFAF1 Q9Y375606934
No signs/symptoms info available.