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Diseases

C1Q Deficiency

c1q deficiency

Entity Type
Diseases
Relation Groups
3
Relation Preview
22

Basic Information

Grouped by core information, identifiers, and descriptions.

Current candidates are inferred from disease-target-ingredient-herb paths and do not represent a formal recommendation ranking.

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.
Related

Direct relations and traceable candidates grouped by relation type.

Related Targets

target disease6 Targets
06
JAG1
jagged canonical Notch ligand 1
jagged canonical Notch ligand 1