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Complement component 3 deficiency
1 OMIM reference -
1 associated gene
32 connected diseases
No signs/symptoms info
Disease Type of connection
Atypical hemolytic uremic syndrome with C3 anomaly
Atypical hemolytic uremic syndrome with anti-factor H antibodies
Atypical hemolytic uremic syndrome with H factor anomaly
Dense deposit disease
Familial drusen
Immunodeficiency with factor H anomaly
Immunoglobulin-mediated membranoproliferative glomerulonephritis
Atypical hemolytic uremic syndrome with I factor anomaly
Immunodeficiency with factor I anomaly
Atypical hemolytic uremic syndrome with B factor anomaly
Properdin deficiency
Atypical hemolytic uremic syndrome with MCP / CD46 anomaly
C3 glomerulonephritis
Immunodeficiency due to a late component of complements deficiency
Common variable immunodeficiency
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal agammaglobulinemia
Autosomal dominant Larsen syndrome
Boomerang dysplasia
Chuvash erythrocytosis
Cornelia de Lange syndrome
Distal myopathy with posterior leg and anterior hand involvement
Fibronectin glomerulopathy
Muscle filaminopathy
Spondylocarpotarsal synostosis
Von Hippel-Lindau disease
Chronic myeloid leukemia
Craniofacial-ulnar-renal syndrome
Immunodeficiency due to an early component of complement deficiency
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
Synonym(s):
- C3 deficiency
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
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: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
C3 P01024120700
No signs/symptoms info available.