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.

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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

SOURCES: OMIM ORPHANET

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

SOURCES: ORPHANET OMIM

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

SOURCES: MESH OMIM

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


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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

C1S Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the C1S gene.

More info about this panel

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

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

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


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