C1q deficiency 1

Preferred Label : C1q deficiency 1;

Symbol : C1QD1;

CISMeF acronym : C1QD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : C1q deficiency; C1QD;

Description : C1q deficiency is a rare autosomal recessive disorder associated with recurrent skin lesions, chronic infections, systemic lupus erythematosis (SLE; see 152700) or SLE-like diseases. It has also been associated with mesangial proliferative glomerulonephritis. C1q deficiency presents in 2 different forms, absent C1q protein or presence of a dysfunctional molecule (summary by Topaloglu et al., 1996).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the complement component 1, q subcomponent, A chain gene (C1QA, 120550.0001); Caused by mutation in the complement component 1, q subcomponent, C chain gene (C1QC, 120575.0001); Caused by mutation in the complement component 1, q subcomponent, B chain gene (C1QB, 120570.0001);

Prefixed ID : #613652;

Details

Origin ID

613652;

UMLS CUI

C3150902;

Automatic exact mappings (from CISMeF team)
- Complement 1q deficiency (disorder) [SNOMED CT concept]
- Immunodeficiency due to a classical component pathway complement deficiency [ORDO Disease]
CISMeF manual mappings
- Complement component C1q deficiency [ICD-11 More detail]
Currated CISMeF NLP mapping
- C1q Deficiency [NCIt concept]
- C1q deficiency [Disease (Nov.)]
Genes related to phenotype
- Complement component 1, q subcomponent, a chain [OMIM gene]
HPO term(s)
- Autoimmunity [HPO term]
- Autosomal recessive inheritance [HPO term]
- Decreased serum complement factor I [HPO term]
- Membranoproliferative glomerulonephritis [HPO term]
- Recurrent infections [HPO term]
- Systemic lupus erythematosus [HPO term]
ORDO concept(s)
- Immunodeficiency due to a classical component pathway complement deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- C1q Deficiency [NCIt concept]
- C1q deficiency [Disease (Nov.)]
- Complement component C1q deficiency [ICD-11 More detail]

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