Details of Disease

General Information of Disease (ID: DIS3JS22)

Disease Name Complement component 4a deficiency
Synonyms
C4A deficiency; C4AD; complement component 4A deficiency; classic complement early component deficiency caused by mutation in C4A; complement component 4a deficiency; C4A classic complement early component deficiency
Definition Any classic complement early component deficiency in which the cause of the disease is a mutation in the C4A gene.
Disease Hierarchy
DISM3M9W: Immunodeficiency due to a classical component pathway complement deficiency
DISW08D4: Classic complement early component deficiency
DIS3JS22: Complement component 4a deficiency
Disease Identifiers
MONDO ID
MONDO_0013721
MESH ID
C565167
UMLS CUI
C3280642
OMIM ID
614380
MedGen ID
482272
HPO ID
HP:0045043

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
C4A OTXMOYXU Strong Autosomal recessive [1]
C4BPB OTJ70B0K Strong Biomarker [2]
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References

1 Complete complement components C4A and C4B deficiencies in human kidney diseases and systemic lupus erythematosus. J Immunol. 2004 Aug 15;173(4):2803-14. doi: 10.4049/jimmunol.173.4.2803.
2 Role for specific complement phenotypes and deficiencies in the clinical expression of IgA nephropathy.Am J Med Sci. 1991 Feb;301(2):115-23. doi: 10.1097/00000441-199102000-00006.