Cytoscape Web
Click node...


1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Benign paroxysmal torticollis of infancy
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies

CACNA1A LTBP4


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CACNA1A
(0.68)
LTBP4



Citations in the biomedical literature:


Benign paroxysmal torticollis of infancy
CACNA1A
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
LTBP4



Benign paroxysmal torticollis of infancy
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies

Synonym(s):
(no synonyms)

Synonym(s):
- Urban-Rifkin-Davis syndrome

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare abdominal surgical disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin disease
- Rare surgical thoracic disease

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

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: sporadic
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

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

No signs/symptoms info available.