CYLD gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to CYLD gene

Symptoms // Phenotype % Cases
Trichoepithelioma Very Common - Between 80% and 100% cases
Papule Common - Between 50% and 80% cases
Basal cell carcinoma Common - Between 50% and 80% cases
Neoplasm Common - Between 50% and 80% cases
Neoplasm of the skin Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

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

  • Cylindroma
  • Not very common - Between 30% and 50% cases

  • Subcutaneous nodule
  • Telangiectasia of the skin
  • Carcinoma
  • Milia
  • Rarely - Less than 30% cases

  • Hamartoma
  • Adenoma sebaceum
  • Neurofibromas

And 2 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to CYLD gene

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


FAMILIAL MULTIPLE TRICHOEPITHELIOMA


Alternate names

FAMILIAL MULTIPLE TRICHOEPITHELIOMA Is also known as mft2

Description

Multiple familial trichoepithelioma (MFT) is an autosomal dominant disorder of skin appendage tumors characterized by the appearance of trichoepitheliomas.See also MFT1 (OMIM ), which is caused by mutations in the CYLD gene (OMIM ) on chromosome 16q12-q13.

Most common symptoms of FAMILIAL MULTIPLE TRICHOEPITHELIOMA

  • Papule
  • Subcutaneous nodule
  • Basal cell carcinoma
  • Telangiectasia of the skin
  • Trichoepithelioma


More info about FAMILIAL MULTIPLE TRICHOEPITHELIOMA

SOURCES: OMIM ORPHANET

TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1


Alternate names

TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1 Is also known as mft1, epithelioma adenoides cysticum of brooke, eac, epithelioma, hereditary multiple benign cystic, brooke-fordyce trichoepitheliomas

Description

Multiple familial trichoepithelioma, also called epithelioma adenoides cysticum (EAC), is an autosomal dominant dermatosis characterized by the presence of many skin tumors predominantly on the face. Since histologic examination shows dermal aggregates of basaloid cells with connection to or differentiation toward hair follicles, this disorder has been thought to represent a benign hamartoma of the pilosebaceous apparatus. Trichoepitheliomas can degenerate into basal cell carcinoma (Johnson and Bennett, 1993).Because BRSS, familial cylindromatosis, and MFT1 are allelic, and because different manifestations of each have been described within a single family, many consider these disorders to represent a phenotypic spectrum of a single disease entity (Lee et al., 2005; Bowen et al., 2005; Young et al., 2006; Saggar et al., 2008).Blake and Toro (2009) provided a detailed review of the spectrum of disorders associated with CYLD mutations.

Most common symptoms of TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1

  • Neoplasm
  • Carcinoma
  • Papule
  • Neoplasm of the skin
  • Basal cell carcinoma


More info about TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1

SOURCES: OMIM

FAMILIAL CYLINDROMATOSIS


Alternate names

FAMILIAL CYLINDROMATOSIS Is also known as cylindromas, dermal eccrine, ancell-spiegler cylindromas, 'turban tumor' syndrome, turban tumor syndrome

Description

The disorders classically referred to as familial cylindromatosis, Brooke-Spiegler syndrome, and multiple familial trichoepithelioma were originally described as distinct clinical entities. Patients with BRSS develop multiple skin appendage tumors including cylindromas, trichoepitheliomas, and spiradenomas. Patients with familial cylindromatosis have only cylindromas, and those with MFT1 have only trichoepitheliomas. However, because these disorders show overlapping phenotypic features, and because different manifestations of each have been described within a single family, many consider these disorders to represent a phenotypic spectrum of a single disease entity (Guggenheim and Schnyder, 1961; Welch et al., 1968; Gerretsen et al., 1995; Lee et al., 2005; Bowen et al., 2005; Young et al., 2006; Saggar et al., 2008).Van Balkom and Hennekam (1994), who preferred the designation 'dermal eccrine cylindromatosis' for familial cylindromatosis, provided a review. 'Eccrine' referred to histologic evidence that the tumors may originate from the eccrine sweat glands.Blake and Toro (2009) provided a detailed review of the spectrum of disorders associated with CYLD mutations.

Most common symptoms of FAMILIAL CYLINDROMATOSIS

  • Neoplasm
  • Subcutaneous nodule
  • Neoplasm of the skin
  • Milia
  • Neurofibromas


More info about FAMILIAL CYLINDROMATOSIS

SOURCES: MESH OMIM ORPHANET

BROOKE-SPIEGLER SYNDROME; BRSS


Alternate names

BROOKE-SPIEGLER SYNDROME; BRSS Is also known as spiegler-brooke syndrome, bss, sbs

Description

Brooke-Spiegler syndrome is an autosomal dominant disorder classically characterized by the appearance of multiple skin appendage tumors such as cylindroma, trichoepithelioma, and spiradenoma. These tumors are typically located in the head and neck region, appear in early adulthood, and gradually increase in size and number throughout life (Scheinfeld et al., 2003).Because BRSS, familial cylindromatosis, and MFT1 are allelic, and because different manifestations of each have been described within a single family, many consider these disorders to represent a phenotypic spectrum of a single disease entity (Gerretsen et al., 1995; Lee et al., 2005; Bowen et al., 2005; Young et al., 2006; Saggar et al., 2008).Blake and Toro (2009) provided a review of Brooke-Spiegler syndrome and pathogenic mutations in the CYLD gene.

Most common symptoms of BROOKE-SPIEGLER SYNDROME; BRSS

  • Neoplasm
  • Carcinoma
  • Papule
  • Nevus
  • Neoplasm of the skin


More info about BROOKE-SPIEGLER SYNDROME; BRSS

SOURCES: OMIM ORPHANET


Potential gene panels for CYLD gene

CYLD Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the CYLD gene.

More info about this panel

Familial Cylindromatosis - CYLD Full Sequence Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia

This panel specifically test the CYLD gene.

More info about this panel

Familial Cylindromatosis - CYLD Known Point Mutation Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia

This panel specifically test the CYLD gene.

More info about this panel

CHOP Comprehensive Hereditary Cancer Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia CHOP Comprehensive Hereditary Cancer Panel that also includes the following genes: RMRP RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A SH2D1A SLC25A13

More info about this panel

Brooke-Spiegler syndrome (sequence analysis of CYLD gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CYLD gene.

More info about this panel

OncoRisk Plus (NGS panel for 89 genes) Panel

Portugal.

By CGC Genetics OncoRisk Plus (NGS panel for 89 genes) that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11

More info about this panel

Familial multiple trichoepithelioma (sequence analysis of CYLD gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CYLD gene.

More info about this panel

Familial multiple trichoepithelioma (sequence analysis of CYLD gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CYLD gene.

More info about this panel

Hereditary Cancer Syndromes - panels Panel

Germany.

By MGZ Medical Genetics Center Hereditary Cancer Syndromes - panels that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11

More info about this panel

Trichoepithelioma, multiple familial, type 1 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CYLD gene.

More info about this panel

Spiegler-Brooke syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CYLD gene.

More info about this panel

Cylindromatosis, familial Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CYLD gene.

More info about this panel

Disorders associated with malignancy Panel Panel

Germany.

By CeGaT GmbH Disorders associated with malignancy Panel that also includes the following genes: BLM SDHB SDHD STK11 TERC TERT TINF2 TSC1 TSC2 XPA

More info about this panel

Familial Tumor Syndromes Panel Panel

Germany.

By CeGaT GmbH Familial Tumor Syndromes Panel that also includes the following genes: BLM SDHB SDHC SDHD SMARCA4 SMARCB1 SMARCE1 TP53 TSC1 TSC2

More info about this panel

Cancer Predisposition Panel

Estonia.

By Asper Biogene Asper Biogene LLC Cancer Predisposition that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1

More info about this panel

Brooke-Spiegler syndrome: CYLD gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the CYLD gene.

More info about this panel

Hereditary Cancer NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Hereditary Cancer NGS Panel that also includes the following genes: ROBO2 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1

More info about this panel

CYLD Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CYLD gene.

More info about this panel

Comprehensive Cancer Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Comprehensive Cancer Panel that also includes the following genes: ROBO2 RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2

More info about this panel

Comprehensive Hereditary Cancer Panel Panel

Finland.

By Blueprint Genetics Comprehensive Hereditary Cancer Panel that also includes the following genes: RIT1 RRAS RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRAF

More info about this panel

NeoTYPE® Discovery Profile for Solid Tumors Panel

United States.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. NeoTYPE® Discovery Profile for Solid Tumors that also includes the following genes: BCL6 ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1 FOXL2

More info about this panel

Caris MI TumorSeek 592-Gene NGS Panel Panel

United States.

By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1

More info about this panel

FAMILIAL CYLINDROMATOSIS Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the CYLD gene.

More info about this panel

Providence Personalized Medicine Panel - Solid Tumor Panel

United States.

By Providence Regional Laboratories Providence Health and Services Providence Personalized Medicine Panel - Solid Tumor that also includes the following genes: BCR ROS1 RUNX1 SDHA SDHB SDHC SDHD SF3B1 SRSF2 FOXL2

More info about this panel

Brooke-Spiegler Syndrome, Sequencing CYLD Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the CYLD gene.

More info about this panel

Oncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes Panel

Spain.

By Reference Laboratory Genetics Oncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11

More info about this panel

Tempus xT assay Panel

United States.

By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA

More info about this panel

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel

CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel that also includes the following genes: RNASEL RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2

More info about this panel


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