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C1Q deficiency 1(C1QD1)

MedGen UID:
1053847
•Concept ID:
CN376805
•
Disease or Syndrome
Synonym: C1QD1
 
Gene (location): C1QA (1p36.12)
 
Monarch Initiative: MONDO:0958182
OMIM®: 613652

Professional guidelines

PubMed

Genetic test indications and interpretations in patients with hereditary angioedema.
Weiler CR, van Dellen RG
Mayo Clin Proc 2006 Jul;81(7):958-72. doi: 10.4065/81.7.958. PMID: 16835976
Familial occurrence of C1-inhibitor deficiency and the effect of treatment.
Madaliński K, Sabbouh K, Imielska D, Chorazykiewicz M
Arch Immunol Ther Exp (Warsz) 1989;37(5-6):669-74. PMID: 2487375
Treatment of AB deficiencies.
Cunningham-Rundles C
Vox Sang 1986;51 Suppl 2:63-8. doi: 10.1111/j.1423-0410.1986.tb02010.x. PMID: 3490056

Recent clinical studies

Etiology

Antibody-Dependent Enhancement (ADE) and the role of complement system in disease pathogenesis.
Thomas S, Smatti MK, Ouhtit A, Cyprian FS, Almaslamani MA, Thani AA, Yassine HM
Mol Immunol 2022 Dec;152:172-182. Epub 2022 Nov 10 doi: 10.1016/j.molimm.2022.11.010. PMID: 36371813Free PMC Article
Acquired Angioedema due to C1-Inhibitor Deficiency: A Challenging Condition.
Valle SOR, Alonso MLO, Dortas Junior SD, Goudouris ES, de Carvalho ALRB, Capelo AV, Mansour E, Bernardes AF, Leite LFB, Giavina-Bianchi P, Aun MV, Ferriani MPL, Arruda LK, Grumach AS
Int Arch Allergy Immunol 2022;183(5):572-577. Epub 2022 Mar 24 doi: 10.1159/000521646. PMID: 35325890
Definition and classification of hereditary angioedema.
Proper SP, Lavery WJ, Bernstein JA
Allergy Asthma Proc 2020 Nov 1;41(Suppl 1):S03-S07. doi: 10.2500/aap.2020.41.200040. PMID: 33109317
Classical pathway deficiencies - A short analytical review.
Truedsson L
Mol Immunol 2015 Nov;68(1):14-9. Epub 2015 May 30 doi: 10.1016/j.molimm.2015.05.007. PMID: 26038300
C1q-binding proteins and C1q receptors.
Nicholson-Weller A, Klickstein LB
Curr Opin Immunol 1999 Feb;11(1):42-6. doi: 10.1016/s0952-7915(99)80008-9. PMID: 10047536

Diagnosis

Biochemistry, molecular genetics, and clinical aspects of hereditary angioedema with and without C1 inhibitor deficiency.
Miyata T, Horiuchi T
Allergol Int 2023 Jul;72(3):375-384. Epub 2023 May 9 doi: 10.1016/j.alit.2023.04.004. PMID: 37169642
Streptococcus pneumoniae interactions with the complement system.
Gil E, Noursadeghi M, Brown JS
Front Cell Infect Microbiol 2022;12:929483. Epub 2022 Jul 28 doi: 10.3389/fcimb.2022.929483. PMID: 35967850Free PMC Article
Definition and classification of hereditary angioedema.
Proper SP, Lavery WJ, Bernstein JA
Allergy Asthma Proc 2020 Nov 1;41(Suppl 1):S03-S07. doi: 10.2500/aap.2020.41.200040. PMID: 33109317
Hereditary and acquired angioedema.
Patel G, Pongracic JA
Allergy Asthma Proc 2019 Nov 1;40(6):441-445. doi: 10.2500/aap.2019.40.4267. PMID: 31690390
Clinical presentation of human C1q deficiency: How much of a lupus?
Stegert M, Bock M, Trendelenburg M
Mol Immunol 2015 Sep;67(1):3-11. Epub 2015 Apr 3 doi: 10.1016/j.molimm.2015.03.007. PMID: 25846716

Therapy

Acquired Angioedema due to C1-Inhibitor Deficiency: A Challenging Condition.
Valle SOR, Alonso MLO, Dortas Junior SD, Goudouris ES, de Carvalho ALRB, Capelo AV, Mansour E, Bernardes AF, Leite LFB, Giavina-Bianchi P, Aun MV, Ferriani MPL, Arruda LK, Grumach AS
Int Arch Allergy Immunol 2022;183(5):572-577. Epub 2022 Mar 24 doi: 10.1159/000521646. PMID: 35325890
Periodic Severe Angioedema without Exogenous Hormone Exposure.
Nabavi M, Bahrami S, Arshi S, Rezaeifar A, Bemanian MH, Fallahpour M, Shokri S, Tehrani H
Iran J Allergy Asthma Immunol 2021 Feb 11;20(1):120-124. doi: 10.18502/ijaai.v20i1.5419. PMID: 33639628
Cigarette smoke-induced reduction of C1q promotes emphysema.
Yuan X, Chang CY, You R, Shan M, Gu BH, Madison MC, Diehl G, Perusich S, Song LZ, Cornwell L, Rossen RD, Wetsel R, Kimal R, Coarfa C, Eltzschig HK, Corry DB, Kheradmand F
JCI Insight 2019 May 21;5(13) doi: 10.1172/jci.insight.124317. PMID: 31112138Free PMC Article
Autoantibodies and lymphoproliferative diseases in acquired C1-inhibitor deficiencies.
Cicardi M, Zingale LC, Pappalardo E, Folcioni A, Agostoni A
Medicine (Baltimore) 2003 Jul;82(4):274-81. doi: 10.1097/01.md.0000085055.63483.09. PMID: 12861105
Hypocomplementemic urticarial vasculitis: association with chronic obstructive pulmonary disease.
Schwartz HR, McDuffie FC, Black LF, Schroeter AL, Conn DL
Mayo Clin Proc 1982 Apr;57(4):231-8. PMID: 7040825

Prognosis

Antibody-Dependent Enhancement (ADE) and the role of complement system in disease pathogenesis.
Thomas S, Smatti MK, Ouhtit A, Cyprian FS, Almaslamani MA, Thani AA, Yassine HM
Mol Immunol 2022 Dec;152:172-182. Epub 2022 Nov 10 doi: 10.1016/j.molimm.2022.11.010. PMID: 36371813Free PMC Article
Complement activation promoted by the lectin pathway mediates C3aR-dependent sarcoma progression and immunosuppression.
Magrini E, Di Marco S, Mapelli SN, Perucchini C, Pasqualini F, Donato A, Guevara Lopez ML, Carriero R, Ponzetta A, Colombo P, Cananzi F, Supino D, Reis ES, Peano C, Inforzato A, Jaillon S, Doni A, Lambris JD, Mantovani A, Garlanda C
Nat Cancer 2021 Feb;2(2):218-232. Epub 2021 Feb 18 doi: 10.1038/s43018-021-00173-0. PMID: 34505065Free PMC Article
Serum complement C1q level is associated with acute coronary syndrome.
Ni XN, Yan SB, Zhang K, Sai WW, Zhang QY, Ti Y, Wang ZH, Zhang W, Zheng CY, Zhong M
Mol Immunol 2020 Apr;120:130-135. Epub 2020 Feb 28 doi: 10.1016/j.molimm.2020.02.012. PMID: 32120180
Tumor Cells Hijack Macrophage-Produced Complement C1q to Promote Tumor Growth.
Roumenina LT, Daugan MV, Noé R, Petitprez F, Vano YA, Sanchez-Salas R, Becht E, Meilleroux J, Clec'h BL, Giraldo NA, Merle NS, Sun CM, Verkarre V, Validire P, Selves J, Lacroix L, Delfour O, Vandenberghe I, Thuilliez C, Keddani S, Sakhi IB, Barret E, Ferré P, Corvaïa N, Passioukov A, Chetaille E, Botto M, de Reynies A, Oudard SM, Mejean A, Cathelineau X, Sautès-Fridman C, Fridman WH
Cancer Immunol Res 2019 Jul;7(7):1091-1105. Epub 2019 Jun 4 doi: 10.1158/2326-6066.CIR-18-0891. PMID: 31164356
Clinical presentation of human C1q deficiency: How much of a lupus?
Stegert M, Bock M, Trendelenburg M
Mol Immunol 2015 Sep;67(1):3-11. Epub 2015 Apr 3 doi: 10.1016/j.molimm.2015.03.007. PMID: 25846716

Clinical prediction guides

Biochemistry, molecular genetics, and clinical aspects of hereditary angioedema with and without C1 inhibitor deficiency.
Miyata T, Horiuchi T
Allergol Int 2023 Jul;72(3):375-384. Epub 2023 May 9 doi: 10.1016/j.alit.2023.04.004. PMID: 37169642
Antibody-Dependent Enhancement (ADE) and the role of complement system in disease pathogenesis.
Thomas S, Smatti MK, Ouhtit A, Cyprian FS, Almaslamani MA, Thani AA, Yassine HM
Mol Immunol 2022 Dec;152:172-182. Epub 2022 Nov 10 doi: 10.1016/j.molimm.2022.11.010. PMID: 36371813Free PMC Article
Complement activation promoted by the lectin pathway mediates C3aR-dependent sarcoma progression and immunosuppression.
Magrini E, Di Marco S, Mapelli SN, Perucchini C, Pasqualini F, Donato A, Guevara Lopez ML, Carriero R, Ponzetta A, Colombo P, Cananzi F, Supino D, Reis ES, Peano C, Inforzato A, Jaillon S, Doni A, Lambris JD, Mantovani A, Garlanda C
Nat Cancer 2021 Feb;2(2):218-232. Epub 2021 Feb 18 doi: 10.1038/s43018-021-00173-0. PMID: 34505065Free PMC Article
Serum complement C1q level is associated with acute coronary syndrome.
Ni XN, Yan SB, Zhang K, Sai WW, Zhang QY, Ti Y, Wang ZH, Zhang W, Zheng CY, Zhong M
Mol Immunol 2020 Apr;120:130-135. Epub 2020 Feb 28 doi: 10.1016/j.molimm.2020.02.012. PMID: 32120180
The collectins CL-L1, CL-K1 and CL-P1, and their roles in complement and innate immunity.
Hansen SW, Ohtani K, Roy N, Wakamiya N
Immunobiology 2016 Oct;221(10):1058-67. Epub 2016 Jun 2 doi: 10.1016/j.imbio.2016.05.012. PMID: 27377710

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    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen

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