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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
Synpolydactyly type 2

LTBP4 FBLN1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
LTBP4
(0.63)
FBLN1



Citations in the biomedical literature:


Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
LTBP4
Synpolydactyly type 2
FBLN1



Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
Synpolydactyly type 2

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

Synonym(s):
- SD2, Debeer type
- SD2b
- SPD, Debeer type
- SPD2
- Synpolydactyly, Debeer type

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

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:
(no data available)

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

No signs/symptoms info available.