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3 OMIM references -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Craniofacial-ulnar-renal syndrome
Hereditary angioedema type 1

COLEC11 SERPING1
MASP1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
MASP1
(0.75)
SERPING1



Citations in the biomedical literature:


Craniofacial-ulnar-renal syndrome
COLEC11 MASP1
Hereditary angioedema type 1
SERPING1



Craniofacial-ulnar-renal syndrome
Hereditary angioedema type 1

Synonym(s):
- 3MC syndrome

Synonym(s):
- HAE-I
- Hereditary angioneurotic edema type 1

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare allergic disease
- Rare genetic disease
- Rare systemic or rheumatologic 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:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant

External references:
3 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C538577

No signs/symptoms info available.