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Pediatric Disease Annotations & Medicines



   c1q deficiency
  

Disease ID 1722
Disease c1q deficiency
Definition
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.
Synonym
c1qd
OMIM
UMLS
C3150902
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:5)
C0409974  |  lupus erythematosus  |  5
C0024141  |  systemic lupus erythematosus  |  5
C0015230  |  rash  |  1
C0017658  |  glomerulonephritis  |  1
C0021053  |  immune disease  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:3)
C1QA  |  712  |  CLINVAR
C1QB  |  713  |  CLINVAR;UNIPROT
C1QC  |  714  |  CLINVAR;UNIPROT
Inferring Gene(Waiting for update.)
Text Mined Gene(Waiting for update.)
Locus(Waiting for update.)
Disease ID 1722
Disease c1q deficiency
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:7)
Disease ID 1722
Disease c1q deficiency
Manually Symptom(Waiting for update.)
Text Mined Symptom(Waiting for update.)
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:1)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs121909581NA712C1QAumls:C3150902CLINVARNA0.12NAC1QA122639291CT
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Chemical(Total Drugs:0)
(Waiting for update.)
FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)
FDA labeling changes(Total Drugs:0)
(Waiting for update.)