Complement Component C1r/c1s Deficiency

Description

Lack of production of either functional C1r or C1s protein, due to a genetic defect. Approximately 60% of patients with a C1r/C1s deficiency will develop a severe systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae.

Clinical Features

Phenotypes and symptoms related to Complement Component C1r/c1s Deficiency

  • Arthralgia
  • Arthritis
  • Autoimmunity
  • Nephritis
  • Recurrent bronchitis
  • Complement deficiency
  • Discoid lupus rash

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Complement Component C1r/c1s Deficiency Is also known as c1r/c1s deficiency.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Complement Component C1r/c1s Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Comprehensive Ehlers-Danlos Syndrome Panel.

By Collagen Diagnostic Laboratory University of Washington (United States).

C1R, C1S, FKBP14, SLC39A13, ADAMTS2, COL1A2, COL3A1, COL5A1, COL5A2, CHST14, ATP7A, PLOD1
Specificity
9 %
Genes
100 %
Connective Tissue Disorders Panel.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center (United States).

BGN, SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, MED12, TNXB, C1R, C1S, ACTA2, ADAMTS10, SLC2A10, ADAMTSL2, CBS, TAB2, B3GALT6, ATP6V0A2, FKBP14, RIN2 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
100 %
Ehlers-Danlos Syndrome Panel.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center (United States).

TNXB, C1R, C1S, B3GALT6, FKBP14, SLC39A13, DSE, ADAMTS2, COL1A2, COL3A1, COL5A1, COL5A2, CHST14, FLNA, ATP7A, PLOD1, B4GALT7
Specificity
6 %
Genes
100 %
Ehlers-Danlos Syndromes Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SPARC, TGFBR1, TGFBR2, TNFRSF1A, TNXB, C1R, C1S, LZTS1, ADAMTSL2, B3GALT6, ATP6V0A2, FKBP14, RIN2, CHST3, SLC39A13, DSE, ADAMTS2, COL12A1, COL1A2, COL3A1 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Ehlers-Danlos syndrome, periodontal type Comprehensive panel.

By Connective Tissue Gene Tests (United States).

C1R, C1S
Specificity
50 %
Genes
100 %
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive.

By Connective Tissue Gene Tests (United States).

C1R, C1S, B3GALT6, FKBP14, SLC39A13, DSE, ADAMTS2, COL12A1, COL1A2, COL3A1, COL5A1, COL5A2, ZNF469, CHST14, FLNA, ATP7A, PLOD1, B4GALT7, PRDM5
Specificity
6 %
Genes
100 %
Ehlers-Danlos syndrome Comprehensive panel - Dominant.

By Connective Tissue Gene Tests (United States).

C1R, C1S, COL12A1, COL1A2, COL3A1, COL5A1, COL5A2, FLNA
Specificity
13 %
Genes
100 %
Ehlers-Danlos syndrome, periodontal type Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

C1R, C1S
Specificity
50 %
Genes
100 %

We have 11 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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