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Decreased circulating complement C9 concentration

MedGen UID:
866744
Concept ID:
C4021093
Finding
Synonyms: Decreased serum C9; Decreased serum complement C9
 
HPO: HP:0012308

Definition

Concentration of the complement component C9 in the blood circulation below the lower limit of normal. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDecreased circulating complement C9 concentration

Conditions with this feature

Complement component 9 deficiency
MedGen UID:
462539
Concept ID:
C3151189
Disease or Syndrome
Any classic complement early component deficiency in which the cause of the disease is a mutation in the C9 gene.

Recent clinical studies

Etiology

Martinez-Pinna R, Madrigal-Matute J, Tarin C, Burillo E, Esteban-Salan M, Pastor-Vargas C, Lindholt JS, Lopez JA, Calvo E, de Ceniga MV, Meilhac O, Egido J, Blanco-Colio LM, Michel JB, Martin-Ventura JL
Arterioscler Thromb Vasc Biol 2013 Aug;33(8):2013-20. Epub 2013 May 23 doi: 10.1161/ATVBAHA.112.301191. PMID: 23702661
Platonov AE, Beloborodov VB, Gabrilovitch DI, Khabarova VV, Serebrovskaya LV
Clin Immunol Immunopathol 1992 Aug;64(2):98-105. doi: 10.1016/0090-1229(92)90186-r. PMID: 1643749

Clinical prediction guides

Martinez-Pinna R, Madrigal-Matute J, Tarin C, Burillo E, Esteban-Salan M, Pastor-Vargas C, Lindholt JS, Lopez JA, Calvo E, de Ceniga MV, Meilhac O, Egido J, Blanco-Colio LM, Michel JB, Martin-Ventura JL
Arterioscler Thromb Vasc Biol 2013 Aug;33(8):2013-20. Epub 2013 May 23 doi: 10.1161/ATVBAHA.112.301191. PMID: 23702661

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