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Complement component 6 deficiency(C6D)

MedGen UID:: 436639
•Concept ID:: C2676232
•: Disease or Syndrome

Synonyms:	C6 DEFICIENCY; C6D

Gene (location): Gene(s) directly associated with this condition or phenotype.	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

Abnormality of the immune system

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: 22288589 Free PMC Article

See all (3)

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: 22288589 Free PMC Article

See all (4)

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

See all (2)

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: 22288589 Free PMC Article

See all (2)

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

See all (1)

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Complement component 6 deficiency(C6D)

Definition

Clinical features

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Molecular resources

Consumer resources

Reviews

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