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Isolated cytochrome C oxidase deficiency
1 OMIM reference -
11 associated genes
53 connected diseases
No signs/symptoms info
Disease Type of connection
MELAS syndrome
Maternally-inherited Leigh syndrome
Genetic recurrent myoglobinuria
Leber hereditary optic neuropathy
Leigh syndrome with cardiomyopathy
Mitochondrial nonsyndromic sensorineural deafness
Mitochondrial nonsyndromic sensorineural deafness with susceptibility to aminoglycoside exposure
FASTKD2-related infantile mitochondrial encephalomyopathy
Citrullinemia type II
Neonatal intrahepatic cholestasis due to citrin deficiency
Huntington disease
Juvenile Huntington disease
Young adult-onset Parkinsonism
LIG4 syndrome
Omenn syndrome
Autosomal dominant hypohidrotic ectodermal dysplasia
Parkinsonian-pyramidal syndrome
Leigh syndrome with leukodystrophy
Giant cell glioblastoma
Gliosarcoma
Isolated NADH-CoQ reductase deficiency
Fibronectin glomerulopathy
Glycogen storage disease due to liver phosphorylase kinase deficiency
Amyotrophic lateral sclerosis-parkinsonism-dementia complex
17p13.3 microduplication syndrome
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Larsen syndrome
Boomerang dysplasia
Burkitt lymphoma
Cornelia de Lange syndrome
Dedifferentiated liposarcoma
Distal 17p13.3 microdeletion syndrome
Estrogen resistance syndrome
Fatal infantile cytochrome C oxidase deficiency
Miller-Dieker syndrome
Precursor T-cell acute lymphoblastic leukemia
Pseudohypoaldosteronism type 2E
SURF1-related Charcot-Marie-Tooth disease type 4
Spondylocarpotarsal synostosis
Well-differentiated liposarcoma
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
Autosomal dominant spastic paraplegia type 13
Pelizaeus-Merzbacher-like due to HSPD1 mutation
CADDS
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
Peroxisomal acyl-CoA oxidase deficiency
Synonym(s):
- Isolated COX deficiency
- Isolated mitochondrial respiratory chain complex IV deficiency
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (ICD10):
(no data available)
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.