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2 OMIM references -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
6 OMIM references -
4 associated genes
No signs/symptoms info
Inherited congenital spastic tetraplegia
Congenital fibrosis of extraocular muscles

ADD3 KIF21A
GAD1 PHOX2A
KANK1 TUBB2B
TUBB3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
KANK1
(0.75)
KIF21A



Citations in the biomedical literature:


Inherited congenital spastic tetraplegia
ADD3 GAD1 KANK1
Congenital fibrosis of extraocular muscles
KIF21A PHOX2A TUBB2B TUBB3



Inherited congenital spastic tetraplegia
Congenital fibrosis of extraocular muscles

Synonym(s):
- Inherited congenital spastic quadriplegia

Synonym(s):
- FEOM

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the eye and adnexa -

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: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

External references:
2 OMIM references -
No MeSH references
External references:
6 OMIM references -
No MeSH references

No signs/symptoms info available.