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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

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVDecreased circulating complement C9 concentration

Abnormality of the immune system
- Abnormality of immune system physiology
  - Abnormality of humoral immunity
    - Abnormality of complement system
      - Reduced circulating complement concentration
        Decreased circulating terminal complement component concentration
        Decreased 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.

See: Condition Record

Complement component 9 deficiency

Recent clinical studies

Etiology

Proteomic analysis of intraluminal thrombus highlights complement activation in human abdominal aortic aneurysms.

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

Immunological evaluation of late complement component-deficient individuals.

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

Proteomic analysis of intraluminal thrombus highlights complement activation in human abdominal aortic aneurysms.

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

Supplemental Content

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Clinical resources

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Decreased circulating complement C9 concentration
Decreased circulating complement C9 concentration

MedGen
C4021093[conceptid] (1)
MedGen
RecName: Full=Opioid growth factor receptor; Short=OGFr; AltName: Full=Protein 7...
RecName: Full=Opioid growth factor receptor; Short=OGFr; AltName: Full=Protein 7-60; AltName: Full=Zeta-type opioid receptor
gi|146331047|sp|Q9NZT2.3|OGFR_HUMAN

Protein
RecName: Full=Nuclear receptor corepressor 1; Short=N-CoR; Short=N-CoR1; AltName...
RecName: Full=Nuclear receptor corepressor 1; Short=N-CoR; Short=N-CoR1; AltName: Full=Retinoid X receptor-interacting protein 13; Short=RIP13
gi|12643781|sp|Q60974.1|NCOR1_MOUSE

Protein
B4GALT5 [Pseudonaja textilis]
B4GALT5 [Pseudonaja textilis]
Gene ID:113434368

Gene

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