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Core Information
Disease Name
C1Q Deficiency
Standard Disease Name
c1q deficiency
MeSH Tree
No data
ICD-10
No data
Identifiers
DO ID
No data
MeSH ID
No data
OMIM ID
613652
UMLS ID
C3150902
HPO ID
No data
Description and Extensions
Description
NCI2016_NICHD_1602D:Lack of production of functional C1q proteins, due to a genetic defect. Virtually 100% of patients with a C1q deficiency will develop a severe systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae.|NCI2016_02D:Lack of production of functional C1q proteins, due to a genetic defect. Virtually 100% of patients with a C1q deficiency will develop a severe systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae.
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