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Craniofacial-ulnar-renal syndrome
3 OMIM references -
2 associated genes
12 connected diseases
No signs/symptoms info
Disease Type of connection
Immunodeficiency due to an early component of complement deficiency
Hereditary angioedema type 1
Hereditary angioedema type 2
Immunodeficiency due to MASP-2 deficiency
22q11.2 deletion syndrome
Coffin-Lowry syndrome
Glycogen storage disease due to liver phosphorylase kinase deficiency
Lethal congenital contracture syndrome type 2
Pseudohypoaldosteronism type 2E
X-linked non-syndromic intellectual deficit
Atypical hemolytic uremic syndrome with C3 anomaly
Complement component 3 deficiency
Synonym(s):
- 3MC syndrome
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
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: no data available
Type of inheritance: autosomal recessive
External references:
3 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
COLEC11 Q9BWP8612502
MASP1 P48740600521
No signs/symptoms info available.