ODCs

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2 OMIM references -
5 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
13 signs/symptoms

Fatal infantile cytochrome C oxidase deficiency

Hereditary cerebral hemorrhage with amyloidosis, Piedmont type


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SCO2	(0.56)	APP

Citations in the biomedical literature:

Fatal infantile cytochrome C oxidase deficiency		Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
	Synonym(s): - Fatal infantile COX deficiency - Fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency		Synonym(s): - HCHWA, Piedmont type

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease - Rare systemic or rheumatologic disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): (no data available)

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

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

Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
	Very frequent - Autosomal dominant inheritance - Intellectual deficit / mental / psychomotor retardation / learning disability - Intracranial / cerebral / meningeal hemorrhage - Motor deficit / trouble - Obnubilation / coma / lethargia / desorientation - Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness - Psychic / psychomotor regression / dementia / intellectual decline - Sensitive trouble / deficit - Transient cerebral ischemia / stroke Frequent - Cerebral vascular anomalies - Facial pain / cephalalgia / migraine - Psychic / behavioural troubles Occasional - Early death / lethality
Fatal infantile cytochrome C oxidase deficiency
(no data available)