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Congenital alpha2 antiplasmin deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
1 OMIM reference -
1 associated gene
No signs/symptoms info
Congenital alpha2 antiplasmin deficiency
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome

SERPINF2
(UniProt - OMIM)
 BCAP31
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
SERPINF2
(0.63)
BCAP31


Citations in the biomedical literature:


Congenital alpha2 antiplasmin deficiency
SERPINF2
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
BCAP31



Congenital alpha2 antiplasmin deficiency
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome

Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
- Rare otorhinolaryngologic disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
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:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.