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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
11 associated genes
No signs/symptoms info
Autosomal dominant spastic paraplegia type 13
Isolated cytochrome C oxidase deficiency

HSPD1 CEP89
COA5
COX14
COX20
COX6B1
FASTKD2
MT-CO1
MT-CO2
MT-CO3
NDUFA4
PET100


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HSPD1
(0.55)
MT-CO1



Citations in the biomedical literature:


Autosomal dominant spastic paraplegia type 13
HSPD1
Isolated cytochrome C oxidase deficiency
CEP89 COA5 COX14 COX20 COX6B1 FASTKD2
MT-CO1 MT-CO2 MT-CO3 NDUFA4 PET100



Autosomal dominant spastic paraplegia type 13
Isolated cytochrome C oxidase deficiency

Synonym(s):
- SPG13

Synonym(s):
- Isolated COX deficiency
- Isolated mitochondrial respiratory chain complex IV deficiency

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

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

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

External references:
1 OMIM reference -
1 MeSH reference: C537485
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.