Details of Disease

General Information of Disease (ID: DIS443C8)

Disease Name Properdin deficiency, X-linked
Synonyms
properdin deficiency, type 3; complement Factor properdin deficiency; CFPD; PFD; properdin deficiency, type 1; properdin P Factor deficiency; properdin deficiency, type 2; properdin deficiency, X-linked, X-linked recessive; properdin deficiency, X-linked
Definition
A rare, hereditary, primary immunodeficiency due to a complement cascade protein anomaly characterized by significantly increased susceptibility to Neisseria species infections. It only affects males, typically presenting with severe or fulminant meningococcal disease.
Disease Hierarchy
DISNGCMN: Inborn error of immunity
DIS443C8: Properdin deficiency, X-linked
Disease Identifiers
MONDO ID
MONDO_0010713
MESH ID
C537241
UMLS CUI
C1839454
OMIM ID
312060
MedGen ID
333322
Orphanet ID
2966

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
CFP TTLA0VS Limited Genetic Variation [1]
CFP TTLA0VS Strong X-linked [2]
------------------------------------------------------------------------------------
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CFP OTHZBLQK Strong X-linked [2]
------------------------------------------------------------------------------------

References

1 Structural Basis for Properdin Oligomerization and Convertase Stimulation in the Human Complement System.Front Immunol. 2019 Aug 22;10:2007. doi: 10.3389/fimmu.2019.02007. eCollection 2019.
2 Properdin deficiency: molecular basis and disease association. Mol Immunol. 1999 Sep-Oct;36(13-14):863-7. doi: 10.1016/s0161-5890(99)00107-8.