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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
Atelosteogenesis type I
Isolated cytochrome C oxidase deficiency

FLNB 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)
FLNB
(0.63)
MT-CO2



Citations in the biomedical literature:


Atelosteogenesis type I
FLNB
Isolated cytochrome C oxidase deficiency
CEP89 COA5 COX14 COX20 COX6B1 FASTKD2
MT-CO1 MT-CO2 MT-CO3 NDUFA4 PET100



Atelosteogenesis type I
Isolated cytochrome C oxidase deficiency

Synonym(s):
- AO1
- AOI
- Giant cell chondrodysplasia
- Spondylo-humero-femoral dysplasia

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

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare otorhinolaryngologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

External references:
1 OMIM reference -
1 MeSH reference: C535396
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.