Complement component 4a deficiency

Preferred Label : Complement component 4a deficiency;

Symbol : C4AD;

CISMeF acronym : C4AD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : C4a deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the complement component 4A gene (C4A, 120810.0001);

Laboratory abnormalities : Absent CH50 activity in complete C4 deficiency;

Prefixed ID : #614380;

Details

Origin ID

614380;

UMLS CUI

C3280642;

Automatic exact mappings (from CISMeF team)
- C4A wt Allele [NCIt concept]
- Decreased serum complement C4a [HPO term]
- Immunodeficiency due to a classical component pathway complement deficiency [ORDO Disease]
Currated CISMeF NLP mapping
- complement component 4a deficiency [DO Concept]
- complement component 4a deficiency [MeSH concept]
- complement component 4a deficiency [MeSH Supplementary Concept]
DO Cross reference
- complement component 4a deficiency [DO Concept]
Genes related to phenotype
- Complement component 4a [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cutaneous photosensitivity [HPO term]
- Decreased serum complement C4 [HPO term]
- Glomerulonephritis [HPO term]
- Purpura [HPO term]
- Reduced hemolytic complement activity [HPO term]
- Systemic lupus erythematosus [HPO term]
- Vasculitis [HPO term]
ORDO concept(s)
- Immunodeficiency due to a classical component pathway complement deficiency [ORDO Disease]
Semantic type(s)
- Finding [UMLS semantic type]
UMLS correspondences (same concept)
- Decreased serum complement C4a [HPO term]
- complement component 4a deficiency [MeSH Supplementary Concept]
- complement component 4a deficiency [MeSH concept]
- complement component 4a deficiency [DO Concept]

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