Details of Disease | DrugMAP

General Information of Disease (ID: DISART3A)

Disease Name	Complement component C1s deficiency
Synonyms	C1s deficiency; C1SD; complement component C1s deficiency
Definition	A rare defect resulting in C1 deficiency and impaired activation of the complement classical pathway. C1 deficiency generally leads to severe immune complex disease with features of systemic lupus erythematosus and glomerulonephritis.
Disease Hierarchy	DISM3M9W: Immunodeficiency due to a classical component pathway complement deficiency DISW08D4: Classic complement early component deficiency DISART3A: Complement component C1s deficiency
Disease Identifiers	MONDO ID MONDO_0013419 MESH ID C565170 UMLS CUI C3151078 OMIM ID 613783 MedGen ID 462428

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
C1S	TT7LRQH	Strong	Autosomal recessive	[1]
C1S	TT7LRQH	Strong	Biomarker	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
C1S	OTCIZU2A	Strong	Autosomal recessive	[1]
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References

1	Molecular basis of a selective C1s deficiency associated with early onset multiple autoimmune diseases. J Immunol. 2001 Jun 15;166(12):7612-6. doi: 10.4049/jimmunol.166.12.7612.
2	Recombinant human complement component C2 produced in a human cell line restores the classical complement pathway activity in-vitro: an alternative treatment for C2 deficiency diseases.BMC Immunol. 2010 Aug 20;11:43. doi: 10.1186/1471-2172-11-43.