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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
14 associated genes
No signs/symptoms info
Atelosteogenesis type I
Maternally-inherited Leigh syndrome

FLNB MT-ATP6
MT-CO1
MT-CO2
MT-CO3
MT-ND1
MT-ND2
MT-ND3
MT-ND4
MT-ND5
MT-ND6
MT-TK
MT-TL1
MT-TV
MT-TW


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
Maternally-inherited Leigh syndrome
MT-ATP6 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND2
MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TK MT-TL1
MT-TV MT-TW



Atelosteogenesis type I
Maternally-inherited Leigh syndrome

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

Synonym(s):
- MILS
- Maternally-inherited Leigh disease
- Maternally-inherited infantile subacute necrotizing encephalopathy

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
- Rare neurologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the nervous system -

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:
Class of prevalence: -
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: mitochondrial inheritance

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

No signs/symptoms info available.