Complement Component 3 Deficiency, Autosomal Recessive

Alternative Names

  • C3D
  • C3 Deficiency, Autosomal Recessive
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WHO-ICD-10 version:2010

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Certain disorders involving the immune mechanism

OMIM Number

613779

Mode of Inheritance

Autosomal recessive

Gene Map Locus

19p13.3

Description

Complement Component 3 Deficiency, as the name suggests, is a fucntional deficiency of the C3 component of the component pathway. It is a rer disoredr caused by mutations in the gene coding for the C3 protein. 

Epidemiology in the Arab World

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Other Reports

Lebanon

Pussell et al. (1980) described a Lebanese-Palestinian family with 3 siblings affceted with C3 Deficiency. Allotype analyses showed all 3 siblings to be homozygous for a null allele, while parents and two other siblings were heterozygous. 

Palestine

See Lebanon > Pussell et al., 1980

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