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Complement component 6 deficiency(C6D)

MedGen UID:
436639
•Concept ID:
C2676232
•
Disease or Syndrome
Synonyms: C6 DEFICIENCY; C6D
 
Gene (location): C6 (5p13.1)
 
Monarch Initiative: MONDO:0012908
OMIM®: 612446

Definition

Any classic complement early component deficiency in which the cause of the disease is a mutation in the C6 gene. [from MONDO]

Clinical features

From HPO
Recurrent meningococcal disease
MedGen UID:
369692
•Concept ID:
C1970263
•
Finding
Recurrent infections by Neisseria meningitidis (one of the most common causes of bacterial meningitis), which is also known as meningococcus.
See: Feature record | Search on this feature
Reduced circulating CH50 activity
MedGen UID:
1380457
•Concept ID:
C4476774
•
Finding
A diminished activity of the classical complement pathway as measured by the assay for 50% haemolytic complement (CH50) activity of serum.
See: Feature record | Search on this feature
Decreased circulating complement C6 concentration
MedGen UID:
1841533
•Concept ID:
C5826369
•
Finding
Concentration of the complement component C6 in the blood circulation below the lower limit of normal.
See: Feature record | Search on this feature

Recent clinical studies

Etiology

Clinical implications of C6 complement component deficiency.
Rauscher CK, Fajt ML, Bryk J, Petrov AA
Allergy Asthma Proc 2020 Sep 1;41(5):386-388. doi: 10.2500/aap.2020.41.200039. PMID: 32867893
Delayed Generalized Necrotic Purpuric Rash in a C6-deficient 12-year-old Girl Treated for Group W Meningococcal Disease.
Gaschignard J, Hassani N, El Sissy C, Bonacorsi S, Dauger S, Chomton M, Taha MK, Levy M
Pediatr Infect Dis J 2018 Oct;37(10):1014-1015. doi: 10.1097/INF.0000000000001966. PMID: 29474263
Complete deficiency of the sixth complement component (C6Q0), susceptibility to Neisseria meningitidis infections and analysis of the frequencies of C6Q0 gene defects in South Africans.
Orren A, Owen EP, Henderson HE, van der Merwe L, Leisegang F, Stassen C, Potter PC
Clin Exp Immunol 2012 Mar;167(3):459-71. doi: 10.1111/j.1365-2249.2011.04525.x. PMID: 22288589Free PMC Article

Diagnosis

Clinical implications of C6 complement component deficiency.
Rauscher CK, Fajt ML, Bryk J, Petrov AA
Allergy Asthma Proc 2020 Sep 1;41(5):386-388. doi: 10.2500/aap.2020.41.200039. PMID: 32867893
Complement component C6 deficiency in a Spanish family: implications for clinical and molecular diagnosis.
Moya-Quiles MR, Bernardo-Pisa MV, Martínez P, Gimeno L, Bosch A, Salgado G, Martínez-Banaclocha H, Eguia J, Campillo JA, Muro M, Vidal-Bugallo JB, Alvarez-López MR, García-Alonso AM
Gene 2013 May 25;521(1):204-6. Epub 2013 Mar 26 doi: 10.1016/j.gene.2013.03.027. PMID: 23537992
An adolescent female with fever, rash, and arthralgias.
Shanley LA, Durham MR
Clin Pediatr (Phila) 2013 May;52(5):475-8. Epub 2012 Nov 19 doi: 10.1177/0009922812466585. PMID: 23172906
Complete deficiency of the sixth complement component (C6Q0), susceptibility to Neisseria meningitidis infections and analysis of the frequencies of C6Q0 gene defects in South Africans.
Orren A, Owen EP, Henderson HE, van der Merwe L, Leisegang F, Stassen C, Potter PC
Clin Exp Immunol 2012 Mar;167(3):459-71. doi: 10.1111/j.1365-2249.2011.04525.x. PMID: 22288589Free PMC Article

Therapy

Delayed Generalized Necrotic Purpuric Rash in a C6-deficient 12-year-old Girl Treated for Group W Meningococcal Disease.
Gaschignard J, Hassani N, El Sissy C, Bonacorsi S, Dauger S, Chomton M, Taha MK, Levy M
Pediatr Infect Dis J 2018 Oct;37(10):1014-1015. doi: 10.1097/INF.0000000000001966. PMID: 29474263
Complement component 6 deficiency increases susceptibility to dextran sulfate sodium-induced murine colitis.
Ding P, Li L, Huang T, Yang C, Xu E, Wang N, Zhang L, Gu H, Yao X, Zhou X, Hu W
Immunobiology 2016 Nov;221(11):1293-303. Epub 2016 Jun 6 doi: 10.1016/j.imbio.2016.05.014. PMID: 27316715

Prognosis

Delayed Generalized Necrotic Purpuric Rash in a C6-deficient 12-year-old Girl Treated for Group W Meningococcal Disease.
Gaschignard J, Hassani N, El Sissy C, Bonacorsi S, Dauger S, Chomton M, Taha MK, Levy M
Pediatr Infect Dis J 2018 Oct;37(10):1014-1015. doi: 10.1097/INF.0000000000001966. PMID: 29474263
Complete deficiency of the sixth complement component (C6Q0), susceptibility to Neisseria meningitidis infections and analysis of the frequencies of C6Q0 gene defects in South Africans.
Orren A, Owen EP, Henderson HE, van der Merwe L, Leisegang F, Stassen C, Potter PC
Clin Exp Immunol 2012 Mar;167(3):459-71. doi: 10.1111/j.1365-2249.2011.04525.x. PMID: 22288589Free PMC Article

Clinical prediction guides

Complement component 6 deficiency increases susceptibility to dextran sulfate sodium-induced murine colitis.
Ding P, Li L, Huang T, Yang C, Xu E, Wang N, Zhang L, Gu H, Yao X, Zhou X, Hu W
Immunobiology 2016 Nov;221(11):1293-303. Epub 2016 Jun 6 doi: 10.1016/j.imbio.2016.05.014. PMID: 27316715

Supplemental Content

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    Clinical resources

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