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2 OMIM references -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Inherited congenital spastic tetraplegia
Atelosteogenesis type III

ADD3 FLNB
GAD1
KANK1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GAD1
(0.63)
FLNB



Citations in the biomedical literature:


Inherited congenital spastic tetraplegia
ADD3 GAD1 KANK1
Atelosteogenesis type III
FLNB



Inherited congenital spastic tetraplegia
Atelosteogenesis type III

Synonym(s):
- Inherited congenital spastic quadriplegia

Synonym(s):
- AO3
- AOIII

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare neurologic disease
- Rare otorhinolaryngologic disease

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

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: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal dominant

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

No signs/symptoms info available.