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Fatal infantile cytochrome C oxidase deficiency
2 OMIM references -
5 associated genes
47 connected diseases
No signs/symptoms info
Disease Type of connection
Leigh syndrome with cardiomyopathy
Leigh syndrome with leukodystrophy
SURF1-related Charcot-Marie-Tooth disease type 4
Rare isolated myopia
Isolated NADH-CoQ reductase deficiency
Isolated CoQ-cytochrome C reductase deficiency
CLN3 disease
Burkitt lymphoma
Glycogen storage disease due to liver phosphorylase kinase deficiency
Precursor T-cell acute lymphoblastic leukemia
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Essential thrombocythemia
Familial pancreatic carcinoma
Giant cell glioblastoma
Gliosarcoma
Isolated cytochrome C oxidase deficiency
Li-Fraumeni syndrome
Papilloma of choroid plexus
Precursor B-cell acute lymphoblastic leukemia
Pseudohypoaldosteronism type 2E
Amish lethal microcephaly
Cardiomyopathy - hypotonia - lactic acidosis
Citrullinemia type II
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
Neonatal intrahepatic cholestasis due to citrin deficiency
Progressive demyelinating neuropathy with bilateral striatal necrosis
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Dopa-responsive dystonia due to sepiapterin reductase deficiency
Hamel cerebro-palato-cardiac syndrome
Idiopathic aplastic anemia
Leukoencephalopathy - dystonia - motor neuropathy
Neuralgic amyotrophy
Osteogenesis imperfecta type 2
Osteogenesis imperfecta type 3
Osteogenesis imperfecta type 4
Shwachman-Diamond syndrome
Translocation renal cell carcinoma
X-linked intellectual deficit, Golabi-Ito-Hall type
X-linked intellectual deficit, Porteous type
X-linked intellectual deficit, Sutherland-Haan type
Synonym(s):
- Fatal infantile COX deficiency
- Fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
(no data available)
External references:
2 OMIM references -
No MeSH references
No signs/symptoms info available.