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Combined oxidative phosphorylation defect type 17
1 OMIM reference -
1 associated gene
12 connected diseases
No signs/symptoms info
Disease Type of connection
Familial prostate cancer
Alobar holoprosencephaly
Aneurysm - osteoarthritis syndrome
Autosomal dominant limb-girdle muscular dystrophy type 1F
Familial thoracic aortic aneurysm and aortic dissection
Lobar holoprosencephaly
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Primary biliary cirrhosis
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
Usher syndrome type 3
Synonym(s):
- COXPD17
Classification (Orphanet):
- Inborn errors of metabolism
- Rare cardiac disease
- Rare genetic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
ELAC2 Q9BQ52605367
No signs/symptoms info available.