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2 OMIM references -
4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Alternating hemiplegia of childhood
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies

ATP1A2 LTBP4
ATP1A3
CACNA1A
SLC1A3


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Alternating hemiplegia of childhood
ATP1A2 ATP1A3 CACNA1A SLC1A3
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
LTBP4



Alternating hemiplegia of childhood
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies

Synonym(s):
- AHC
- Alternating hemiplegia in childhood

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: unknown
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: autosomal dominant
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:
2 OMIM references -
1 MeSH reference: C536589
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.