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

LTBP4 CACNA1A


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
Benign paroxysmal torticollis of infancy
CACNA1A



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

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

Synonym(s):
(no synonyms)

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: <1 / 1 000 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: sporadic

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

No signs/symptoms info available.