C1q Deficiency; C1qd

Description

C1q deficiency is a rare autosomal recessive disorder characterized by recurrent skin lesions, chronic infections, and an increased risk of autoimmune diseases, particularly systemic lupus erythematosus (SLE; see {152700}) or SLE-like diseases. It has also been associated with chronic glomerulonephritis and renal failure. C1q deficiency presents in 2 different forms, absent C1q protein or presence of a dysfunctional molecule (summary by Topaloglu et al., 1996 and Vassallo et al., 2007).

Clinical Features

Top most frequent phenotypes and symptoms related to C1q Deficiency; C1qd

  • Cataract
  • Nevus
  • Pain
  • Fever
  • Pneumonia
  • Immunodeficiency
  • Recurrent infections
  • Erythema
  • Arthralgia
  • Proteinuria
And another 18 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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C1q Deficiency; C1qd Recommended genes panels

Panel Name, Specifity and genes Tested/covered
C1QB.

By Institute for Human Genetics University Clinic Freiburg in Germany.

C1QB
Specificity
100 %
Genes
34 %
Membranoproliferative glomerulonephritis.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

MTHFR, CFH, CFHR5, C1QB, PLA2R1
Specificity
20 %
Genes
34 %
C1q Deficiency Panel.

By CeGaT GmbH in Germany.

C1QC, C1QA, C1QB
Specificity
100 %
Genes
100 %
Complement deficiencies Panel.

By CeGaT GmbH in Germany.

PIGA, CFB, CFI, CFH, CD46, C3, THBD, C1S, C1R, CFHR1, CFHR3, DGKE, MASP1, C7, FCN3, CFD, C2, SERPING1, C1QC, C1QA , (...)

View the complete list with 14 more genes
Specificity
9 %
Genes
100 %
C1QB.

By Fulgent Genetics Fulgent Genetics in United States.

C1QB
Specificity
100 %
Genes
34 %
Primary Immunodeficiency Panel.

By Blueprint Genetics in Finland.

PMS2, RECQL4, STAT1, SLC37A4, CASP8, CLCN7, HAX1, AP3B1, UNG, TAP1, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)

View the complete list with 255 more genes
Specificity
2 %
Genes
100 %
Complement System Disorder Panel.

By Blueprint Genetics in Finland.

CCDC39, PIGA, OFD1, CCNO, SPAG1, CCDC65, DNAAF4, RSPH1, ARMC4, ZMYND10, DRC1, CCDC114, LRRC6, DNAAF5, CCDC103, DNAAF3, DNAL1, CCDC40, DNAAF1, RSPH9 , (...)

View the complete list with 55 more genes
Specificity
4 %
Genes
100 %
C1QC.

By Institute for Human Genetics University Clinic Freiburg in Germany.

C1QC
Specificity
100 %
Genes
34 %
Exome PLUS Proteinuria/FSGS & Hematuria.

By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.

WT1, ALMS1, LMX1B, PAX2, GLA, TSC2, TSC1, COL4A3, NPHS2, NPHS1, INF2, COL4A4, LAMB2, ACTN4, PLCE1, TRPC6, COL4A5, MYH9, CFB, CFI , (...)

View the complete list with 12 more genes
Specificity
7 %
Genes
67 %
Single gene testing C1QC.

By CeGaT GmbH in Germany.

C1QC
Specificity
100 %
Genes
34 %
C1QC.

By Fulgent Genetics Fulgent Genetics in United States.

C1QC
Specificity
100 %
Genes
34 %
C1QA.

By Institute for Human Genetics University Clinic Freiburg in Germany.

C1QA
Specificity
100 %
Genes
34 %
C1q deficiency.

By Centogene AG - the Rare Disease Company in Germany.

C1QA
Specificity
100 %
Genes
34 %
Single gene testing C1QA.

By CeGaT GmbH in Germany.

C1QA
Specificity
100 %
Genes
34 %
C1QA.

By Fulgent Genetics Fulgent Genetics in United States.

C1QA
Specificity
100 %
Genes
34 %


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