CTSC gene related symptoms and diseases

All the information presented here about the CTSC gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CTSC gene

Symptoms // Phenotype % Cases
Periodontitis Very Common - Between 80% and 100% cases
Severe periodontitis Very Common - Between 80% and 100% cases
Palmoplantar hyperkeratosis Common - Between 50% and 80% cases
Hyperkeratosis Common - Between 50% and 80% cases
Arachnodactyly Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with CTSC gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Palmoplantar keratoderma
  • Premature loss of teeth
  • Not very common - Between 30% and 50% cases

  • Intellectual disability
  • Recurrent cutaneous abscess formation
  • Gingivitis
  • Fragile nails
  • Stomatitis
  • Premature loss of primary teeth

And 41 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to CTSC gene

Here you will find a list of rare diseases related to the CTSC. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


PAPILLON-LEFÈVRE SYNDROME


Alternate names

PAPILLON-LEFÈVRE SYNDROME Is also known as keratosis palmoplantar-periodontopathy syndrome, pls, keratosis palmoplantaris with periodontopathia

Description

Papillon-Lefèvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis.

Most common symptoms of PAPILLON-LEFÈVRE SYNDROME

  • Intellectual disability
  • Neoplasm
  • Abnormality of the dentition
  • Recurrent respiratory infections
  • Hyperhidrosis


More info about PAPILLON-LEFÈVRE SYNDROME

SOURCES: OMIM ORPHANET MESH

HAIM-MUNK SYNDROME


Alternate names

HAIM-MUNK SYNDROME Is also known as palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome, palmoplantar keratoderma-periodontopathia-onychogryposis syndrome, keratosis palmoplantaris-periodontopathia-onychogryposis syndrome, cochin jewish disorder, keratosis palmoplantaris with p

Description

Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis.

Most common symptoms of HAIM-MUNK SYNDROME

  • Hyperkeratosis
  • Pes planus
  • Arachnodactyly
  • Palmoplantar keratoderma
  • Palmoplantar hyperkeratosis


More info about HAIM-MUNK SYNDROME

SOURCES: OMIM ORPHANET MESH

PERIODONTITIS, AGGRESSIVE, 1


Alternate names

PERIODONTITIS, AGGRESSIVE, 1 Is also known as jp, periodontitis, prepubertal, ppp, jpd, periodontitis, juvenile

Description

Aggressive periodontitis, which may be generalized or localized, is characterized by severe and protracted gingival infections, leading to tooth loss. Amounts of microbial deposits are generally inconsistent with the severity of periodontal tissue destruction and the progression of attachment and bone loss may be self arresting (American Academy of Periodontology, 2000). The term 'aggressive periodontitis' replaced the terms 'early-onset,' 'prepubertal,' or 'juvenile periodontitis' at a 1999 International workshop for a classification of periodontal disease and conditions, where it was decided that the classification terminology should not be age dependent or require knowledge of rates of progression (Armitage, 1999). Genetic Heterogeneity of Aggressive PeriodontitisAggressive periodontitis-2 (OMIM ) has been mapped to chromosome 1q25.

Most common symptoms of PERIODONTITIS, AGGRESSIVE, 1

  • Abnormality of the skin
  • Premature loss of teeth
  • Periodontitis
  • Gingival recession
  • Severe periodontitis


More info about PERIODONTITIS, AGGRESSIVE, 1

SOURCES: OMIM


Potential gene panels for CTSC gene

Lysosomal Storage Disease Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Lysosomal Storage Disease Panel that also includes the following genes: SGSH SLC17A5 SMPD1 TCF4 MCOLN1 NPC2 ADAMTSL2 DNAJC5 SUMF1 TPP1

More info about this panel

CTSC Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the CTSC gene.

More info about this panel

CTSC. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the CTSC gene.

More info about this panel

Papillon-Lefevre syndrome (sequence analysis of CTSC gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CTSC gene.

More info about this panel

Haim-Munk syndrome (sequence analysis of CTSC gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CTSC gene.

More info about this panel

Papillon-Lefevre Syndrome (PLS) via CTSC Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the CTSC gene.

More info about this panel

Haim-Munk syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CTSC gene.

More info about this panel

Papillon-Lefevre syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CTSC gene.

More info about this panel

Ichthyoses and related disorders of cornification Panel Panel

Germany.

By CeGaT GmbH Ichthyoses and related disorders of cornification Panel that also includes the following genes: SLC27A4 SNAP29 ST14 STS TAT TGM1 TGM5 VPS33B ATP2C1 NSDHL

More info about this panel

Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel Panel

Germany.

By CeGaT GmbH Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel that also includes the following genes: BCS1L SNRPE SOX18 ST14 TRPS1 IFT122 WNT10A EDARADD SHOC2 LPAR6

More info about this panel

Defects of phagocytosis Panel Panel

Germany.

By CeGaT GmbH Defects of phagocytosis Panel that also includes the following genes: STAT1 TAZ TCIRG1 TCN2 TERT WAS WIPF1 ACTB VPS45 HPS3

More info about this panel

Lysosomal Storage Disease Panel

Estonia.

By Asper Biogene Asper Biogene LLC Lysosomal Storage Disease that also includes the following genes: SGSH SLC17A5 SMPD1 MCOLN1 NPC2 DNAJC5 SUMF1 TPP1 CLN3 CLN5

More info about this panel

Invitae Primary Immunodeficiency Panel Panel

United States.

By Invitae Invitae Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC SEMA3E SH2D1A SH3BP2 SLC7A7 SMARCAL1 BTK STAT1 STAT2

More info about this panel

Invitae Phagocyte Defects Panel Panel

United States.

By Invitae Invitae Phagocyte Defects Panel that also includes the following genes: TAZ WAS VPS45 SPINK5 HAX1 CEBPE SLC35C1 VPS13B FERMT3 CSF2RA

More info about this panel

Pan-Ethnic Carrier Screen: Gene Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pan-Ethnic Carrier Screen: Gene Sequencing Panel that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SGCG SGSH SLC12A6

More info about this panel

Lysosomal Disorders NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Lysosomal Disorders NGS Panel that also includes the following genes: SGSH SLC17A5 SLC25A15 SMPD1 BTD SUOX TCF4 MCOLN1 NPC2 ADAMTSL2

More info about this panel

CTSC Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CTSC 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

Lysosomal Disorders and Mucopolysaccharidosis Panel Panel

Finland.

By Blueprint Genetics Lysosomal Disorders and Mucopolysaccharidosis Panel that also includes the following genes: SGSH SLC17A5 SLC25A15 SMPD1 BTD SUOX TCF4 MYOT MCOLN1 NPC2

More info about this panel

Comprehensive Hematology Panel Panel

Finland.

By Blueprint Genetics Comprehensive Hematology Panel that also includes the following genes: RHAG RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26

More info about this panel

Bone Marrow Failure Syndrome Panel Panel

Finland.

By Blueprint Genetics Bone Marrow Failure Syndrome Panel that also includes the following genes: RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS29

More info about this panel

Comprehensive Metabolism Panel Panel

Finland.

By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3

More info about this panel

Congenital Neutropenia Panel Panel

Finland.

By Blueprint Genetics Congenital Neutropenia Panel that also includes the following genes: SMARCD2 SRP72 WAS WDR1 ACTB MRTFA VPS45 HAX1 SBDS LYST

More info about this panel

Palmoplantar Keratoderma Panel Panel

Finland.

By Blueprint Genetics Palmoplantar Keratoderma Panel that also includes the following genes: WNT10A SERPINB7 MBTPS2 TRPV3 SLURP1 KRT6C CTSC AAGAB DSG1 DSP

More info about this panel

Papillon-Lefevre syndrome Panel

Spain.

By Bioarray

This panel specifically test the CTSC gene.

More info about this panel

Papillon-Lefevre Syndrome , Sequencing CTSC Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the CTSC gene.

More info about this panel

Peroxisomal and Lysosomal Diseases , Panel Massive Sequencing (NGS) 78 Genes Panel

Spain.

By Reference Laboratory Genetics Peroxisomal and Lysosomal Diseases , Panel Massive Sequencing (NGS) 78 Genes that also includes the following genes: SCP2 SGSH SLC17A5 SMPD1 ACOX1 MCOLN1 AGXT2 NPC2 CAT DNAJC5

More info about this panel

Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5

More info about this panel


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