Details of Disease

General Information of Disease (ID: DISTLE7C)

Disease Name Complement component 9 deficiency
Synonyms C9 deficiency; C9D; C9 classic complement early component deficiency; complement component 9 deficiency; classic complement early component deficiency caused by mutation in C9
Definition Any classic complement early component deficiency in which the cause of the disease is a mutation in the C9 gene.
Disease Hierarchy
DISXVF3R: Immunodeficiency due to a late component of complement deficiency
DISW08D4: Classic complement early component deficiency
DISTLE7C: Complement component 9 deficiency
Disease Identifiers
MONDO ID
MONDO_0013445
MESH ID
C565165
UMLS CUI
C3151189
OMIM ID
613825
MedGen ID
462539

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
C9 OT7I5FDX Strong Autosomal recessive [1]
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References

1 The human complement C9 gene: identification of two mutations causing deficiency and revision of the gene structure. J Immunol. 1997 May 15;158(10):5043-9.