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

LTBP4 ATP1A2
ATP1A3
CACNA1A
SLC1A3


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


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



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

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

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

Classification (Orphanet):
- Rare abdominal surgical disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin disease
- Rare surgical thoracic disease
Classification (Orphanet):
- 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: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
2 OMIM references -
1 MeSH reference: C536589

No signs/symptoms info available.