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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
3 associated genes
8 signs/symptoms
Synpolydactyly type 2
Familial afibrinogenemia

FBLN1 FGA
FGB
FGG


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FBLN1
(0.86)
FGB



Citations in the biomedical literature:


Synpolydactyly type 2
FBLN1
Familial afibrinogenemia
FGA FGB FGG



Synpolydactyly type 2
Familial afibrinogenemia

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

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

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

Familial afibrinogenemia

Very frequent
- Autosomal recessive inheritance
- Epistaxis / nose bleeding
- Gingivorrhagia / gingival bleeding
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- Hydrarthrosis / articular / joint effusion
- Metrorrhagia / menorrhagia / hemorrhagic cycles / hyper / poly / spanio / dysmenorrhea
- Spontaneous abortions

Occasional
- Intracranial / cerebral / meningeal hemorrhage


Synpolydactyly type 2

(no data available)