Details of Disease

General Information of Disease (ID: DIS1ICRN)

Disease Name Complement component 4b deficiency
Synonyms
complement component 4B deficiency; C4BD; C4B deficiency; C4B classic complement early component deficiency; classic complement early component deficiency caused by mutation in C4B; complement component 4b deficiency
Definition Any classic complement early component deficiency in which the cause of the disease is a mutation in the C4B gene.
Disease Hierarchy
DISM3M9W: Immunodeficiency due to a classical component pathway complement deficiency
DISW08D4: Classic complement early component deficiency
DIS1ICRN: Complement component 4b deficiency
Disease Identifiers
MONDO ID
MONDO_0013720
UMLS CUI
C3280641
OMIM ID
614379
MedGen ID
482271
HPO ID
HP:0045044

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
C4B OTXMOYXU Strong Autosomal recessive [1]
C4BPB OTJ70B0K Strong Genetic Variation [2]
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References

1 Deficiency of human complement protein C4 due to identical frameshift mutations in the C4A and C4B genes. J Immunol. 1999 Mar 15;162(6):3687-93.
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.