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2 OMIM references -
5 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
10 signs/symptoms
Fatal infantile cytochrome C oxidase deficiency
Papilloma of choroid plexus

COX10 TP53
COX15
SCO1
SCO2
SURF1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SCO2
(0.63)
TP53



Citations in the biomedical literature:


Fatal infantile cytochrome C oxidase deficiency
COX10 COX15 SCO1 SCO2 SURF1
Papilloma of choroid plexus
TP53



Fatal infantile cytochrome C oxidase deficiency
Papilloma of choroid plexus

Synonym(s):
- Fatal infantile COX deficiency
- Fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (Orphanet):
- Rare neurologic disease
- Rare oncologic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Neoplasms -

Epidemiological data:
(no data available)
Epidemiological data:
(no data available)

External references:
2 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D020288

Papilloma of choroid plexus

Very frequent
- Autosomal recessive inheritance
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Hydrocephaly
- Structural anomalies of the nervous system

Occasional
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hypertonia / spasticity / rigidity / stiffness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Mild visual loss / impaired visual acuity
- Neoplasms / tumors
- Seizures / epilepsy / absences / spasms / status epilepticus


Fatal infantile cytochrome C oxidase deficiency

(no data available)