Details of Disease

General Information of Disease (ID: DIS8OWGU)

Disease Name Complement component 2 deficiency
Synonyms C2D; C2 deficiency; complement component 2 deficiency; complement deficiency caused by mutation in C2; C2 complement deficiency
Definition
Complement component 2 deficiency (C2D) is a genetic condition that affects the immune system. Signs and symptoms include recurrent bacterial infections and risk for a variety of autoimmune conditions. Infections can be very serious and are common in early life. They become less frequent during the teen and adult years. The most frequent autoimmune conditions associated with C2D are lupus (10-20%) and vasculitis. C2D is caused by mutations in the C2 gene and is inherited in an autosomal recessive fashion.
Disease Hierarchy
DISM3M9W: Immunodeficiency due to a classical component pathway complement deficiency
DISW08D4: Classic complement early component deficiency
DISGN469: Complement deficiency
DIS8OWGU: Complement component 2 deficiency
Disease Identifiers
MONDO ID
MONDO_0009006
UMLS CUI
C3150275
OMIM ID
217000
MedGen ID
461625

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CYP21A2 TTP4GLG Strong Genetic Variation [1]
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This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ACADVL OT50L4XB Strong Genetic Variation [2]
C2 OTHMF4YM Strong Autosomal recessive [1]
C4A OTXMOYXU Strong Genetic Variation [1]
HLA-DRB5 OTUX5TWM Strong Biomarker [3]
OTOA OTBTEFIE Strong Genetic Variation [2]
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References

1 Type I human complement C2 deficiency. A 28-base pair gene deletion causes skipping of exon 6 during RNA splicing. J Biol Chem. 1992 May 5;267(13):9347-53.
2 Exome-based search for recurrent disease-causing alleles in Russian population.Eur J Med Genet. 2019 Jul;62(7):103656. doi: 10.1016/j.ejmg.2019.04.013. Epub 2019 Apr 24.
3 C2 deficient systemic lupus erythematosus: its association with anti-Ro (SSA) antibodies.Arch Dermatol. 1982 Aug;118(8):584-7.