ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
No signs/symptoms info

Combined oxidative phosphorylation defect type 17

Aneurysm - osteoarthritis syndrome


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ELAC2	(0.63)	SMAD3

Citations in the biomedical literature:

Combined oxidative phosphorylation defect type 17		Aneurysm - osteoarthritis syndrome
	Synonym(s): - COXPD17		Synonym(s): - AOS - Loeys-Dietz syndrome with osteoarthritis

	Classification (Orphanet): - Inborn errors of metabolism - Rare cardiac disease - Rare genetic disease		Classification (Orphanet): - Rare circulatory system disease - Rare genetic disease - Rare surgical thoracic disease - Rare systemic or rheumatologic disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): (no data available)

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: variable Average age of death: - Type of inheritance: autosomal dominant

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

No signs/symptoms info available.