C1S gene related symptoms and diseases
All the information presented here about the C1S gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to C1S gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Arthralgia | Common - Between 50% and 80% cases |
| Pain | Uncommon - Between 30% and 50% cases |
| Glomerulonephritis | Uncommon - Between 30% and 50% cases |
| Osteoarthritis | Uncommon - Between 30% and 50% cases |
| Hyperextensible skin | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with C1S gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Bruising susceptibility
- Joint hypermobility
- Atrophic scars
- Fragile skin
- Umbilical hernia
- Inguinal hernia
- Premature loss of teeth
- Gingival bleeding
And 85 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to C1S gene
Here you will find a list of rare diseases related to the C1S. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
IMMUNODEFICIENCY DUE TO A CLASSICAL COMPONENT PATHWAY COMPLEMENT DEFICIENCY
Alternate names
IMMUNODEFICIENCY DUE TO A CLASSICAL COMPONENT PATHWAY COMPLEMENT DEFICIENCY Is also known as immunodeficiency due to c1, c4, or c2 component complement deficiency, immunodeficiency due to an early component of complement deficiency
Description
Immunodeficiency due to a classical component pathway complement deficiency is a primary immunodeficiency due to a deficiency in either complement components C1q, C1r, C1s, C2 or C4 characterized by increased susceptibility to bacterial infections, particularly with encapsulated bacteria, and increased risk for autoimmune disease. Most commonly, these include systemic lupus erythematosus (SLE), SLE-like disease, Henoch-Schonlein purpura, polymyositis and arthralgia. Disease severity is variable and dependent on the complement affected.
Most common symptoms of IMMUNODEFICIENCY DUE TO A CLASSICAL COMPONENT PATHWAY COMPLEMENT DEFICIENCY
- Pain
- Cataract
- Fever
- Renal insufficiency
- Immunodeficiency
More info about IMMUNODEFICIENCY DUE TO A CLASSICAL COMPONENT PATHWAY COMPLEMENT DEFICIENCY
EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE
Alternate names
EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE Is also known as ehlers-danlos syndrome, periodontitis type, ehlers-danlos syndrome, periodontosis type, ehlers-danlos syndrome, type viii, ehlers-danlos syndrome type 8, eds viii, eds8
Description
Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility.
Most common symptoms of EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE
- Short stature
- Scoliosis
- Neoplasm
- Micrognathia
- Pain
More info about EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE
COMPLEMENT COMPONENT C1S DEFICIENCY; C1SD
Alternate names
COMPLEMENT COMPONENT C1S DEFICIENCY; C1SD Is also known as c1s deficiency
Most common symptoms of COMPLEMENT COMPONENT C1S DEFICIENCY; C1SD
- Hepatitis
- Systemic lupus erythematosus
- Glomerulonephritis
- Hashimoto thyroiditis
- Chondrosarcoma
More info about COMPLEMENT COMPONENT C1S DEFICIENCY; C1SD
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2; EDSPD2
Most common symptoms of EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2; EDSPD2
- Scoliosis
- Neoplasm
- Fever
- Inguinal hernia
- Arthralgia
More info about EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2; EDSPD2
SOURCES: OMIM
Search interest in C1S
Potential gene panels for C1S gene
Comprehensive Ehlers-Danlos Syndrome Panel Panel
United States.
By Collagen Diagnostic Laboratory University of Washington Comprehensive Ehlers-Danlos Syndrome Panel that also includes the following genes: C1R C1S FKBP14 SLC39A13 ADAMTS2 COL1A2 COL3A1 COL5A1 COL5A2 CHST14
More info about this panel United States.
Connective Tissue Disorders Panel Panel
United States.
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Connective Tissue Disorders Panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 TNXB C1R C1S
More info about this panel United States.
Ehlers-Danlos Syndrome Panel Panel
United States.
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Ehlers-Danlos Syndrome Panel that also includes the following genes: TNXB C1R C1S B3GALT6 FKBP14 SLC39A13 DSE ADAMTS2 COL1A2 COL3A1
More info about this panel United States.
Ehlers-Danlos Syndromes Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Ehlers-Danlos Syndromes Sequencing Panel with CNV Detection that also includes the following genes: SPARC TGFBR1 TGFBR2 TNFRSF1A TNXB C1R C1S LZTS1 ADAMTSL2 B3GALT6
More info about this panel United States.
Ehlers-Danlos syndrome, periodontal type Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Ehlers-Danlos syndrome, periodontal type Comprehensive panel that also includes the following genes: C1R C1S
More info about this panel United States.
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive Panel
United States.
By Connective Tissue Gene Tests Ehlers-Danlos syndrome NGS panel - Dominant & Recessive that also includes the following genes: C1R C1S B3GALT6 FKBP14 SLC39A13 DSE ADAMTS2 COL12A1 COL1A2 COL3A1
More info about this panel United States.
Ehlers-Danlos syndrome Comprehensive panel - Dominant Panel
United States.
By Connective Tissue Gene Tests Ehlers-Danlos syndrome Comprehensive panel - Dominant that also includes the following genes: C1R C1S COL12A1 COL1A2 COL3A1 COL5A1 COL5A2 FLNA
More info about this panel United States.
Ehlers-Danlos syndrome, periodontal type Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Ehlers-Danlos syndrome, periodontal type Deletion / Duplication panel that also includes the following genes: C1R C1S
More info about this panel United States.
Ehlers-Danlos syndrome, periodontal type NGS panel Panel
United States.
By Connective Tissue Gene Tests Ehlers-Danlos syndrome, periodontal type NGS panel that also includes the following genes: C1R C1S
More info about this panel United States.
Ehlers-Danlos syndrome NGS panel - Dominant Panel
United States.
By Connective Tissue Gene Tests Ehlers-Danlos syndrome NGS panel - Dominant that also includes the following genes: C1R C1S COL12A1 COL1A2 COL3A1 COL5A1 COL5A2 FLNA
More info about this panel United States.
Ehlers-Danlos syndrome Deletion / Duplication panel - Dominant Panel
United States.
By Connective Tissue Gene Tests Ehlers-Danlos syndrome Deletion / Duplication panel - Dominant that also includes the following genes: C1R C1S COL12A1 COL1A2 COL3A1 COL5A1 COL5A2 FLNA
More info about this panel United States.
Ehlers-Danlos syndrome Deletion / Duplication panel - Dominant & Recessive Panel
United States.
By Connective Tissue Gene Tests Ehlers-Danlos syndrome Deletion / Duplication panel - Dominant & Recessive that also includes the following genes: C1R C1S B3GALT6 FKBP14 SLC39A13 DSE ADAMTS2 COL12A1 COL1A2 COL3A1
More info about this panel United States.
Ehlers-Danlos syndrome Comprehensive panel - Dominant & Recessive Panel
United States.
By Connective Tissue Gene Tests Ehlers-Danlos syndrome Comprehensive panel - Dominant & Recessive that also includes the following genes: C1R C1S B3GALT6 FKBP14 SLC39A13 DSE ADAMTS2 COL12A1 COL1A2 COL3A1
More info about this panel United States.
Connective tissue disorder Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Connective tissue disorder Deletion / Duplication panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 C1R C1S ACTA2
More info about this panel United States.
Connective tissue disorder Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Connective tissue disorder Comprehensive panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 C1R C1S ACTA2
More info about this panel United States.
Connective tissue disorder NGS panel Panel
United States.
By Connective Tissue Gene Tests Connective tissue disorder NGS panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 C1R C1S ACTA2
More info about this panel United States.
Complement deficiencies Panel Panel
Germany.
By CeGaT GmbH Complement deficiencies Panel that also includes the following genes: CFB THBD SERPING1 C1QA C1QB C1QC C1R C1S C2 C3
More info about this panel Germany.
Ehlers-Danlos Syndrome Panel
Estonia.
By Asper Biogene Asper Biogene LLC Ehlers-Danlos Syndrome that also includes the following genes: TGFB2 TGFBR1 TGFBR2 TNXB C1R C1S B3GALT6 ATP6V0A2 FKBP14 RIN2
More info about this panel Estonia.
C1S Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the C1S gene.
More info about this panel United States.
Primary Immunodeficiency Panel Panel
Finland.
By Blueprint Genetics Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC CFB BLM SH2D1A SLC7A7 SMARCAL1 SMARCD2 SRP72 BTK
More info about this panel Finland.
Complement System Disorder Panel Panel
Finland.
By Blueprint Genetics Complement System Disorder Panel that also includes the following genes: CFB SPAG1 THBD SERPING1 RSPH1 C1QA C1QB C1QBP C1QC C1S
More info about this panel Finland.
ATYPICAL HEMOLYTIC UREMIC SYNDROME: NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL ATYPICAL HEMOLYTIC UREMIC SYNDROME: NGS PANEL that also includes the following genes: CFB THBD C1S C2 C3 C3AR1 C8A C9 CFHR4 CFHR3
More info about this panel Spain.
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