Details of Disease

General Information of Disease (ID: DIST3K9E)

Disease Name Complement component 7 deficiency
Synonyms C7 deficiency; C7D; complement component 7 deficiency; C7 classic complement early component deficiency; classic complement early component deficiency caused by mutation in C7
Definition Any classic complement early component deficiency in which the cause of the disease is a mutation in the C7 gene.
Disease Hierarchy
DISXVF3R: Immunodeficiency due to a late component of complement deficiency
DISW08D4: Classic complement early component deficiency
DIST3K9E: Complement component 7 deficiency
Disease Identifiers
MONDO ID
MONDO_0012412
MESH ID
C566443
UMLS CUI
C1864694
OMIM ID
610102
MedGen ID
355270

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
COL7A1 TTBCOKN Limited Biomarker [1]
------------------------------------------------------------------------------------
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
C6 OTCKR304 Limited Biomarker [2]
C7 OTZ27VJN Strong Autosomal recessive [3]
------------------------------------------------------------------------------------

References

1 Manipulation of Transgene Expression in Fibroblast Cells by a Multifunctional Linear-Branched Hybrid Poly(-Amino Ester) Synthesized through an Oligomer Combination Approach.Nano Lett. 2019 Jan 9;19(1):381-391. doi: 10.1021/acs.nanolett.8b04098. Epub 2018 Dec 21.
2 Diagnosis of primary antibody and complement deficiencies in young adults after a first invasive bacterial infection.Clin Microbiol Infect. 2017 Aug;23(8):576.e1-576.e5. doi: 10.1016/j.cmi.2017.02.005. Epub 2017 Feb 10.
3 Complement component C7 deficiency in two Spanish families. Immunology. 2004 Dec;113(4):518-23. doi: 10.1111/j.1365-2567.2004.01997.x.