FERMT1 gene related symptoms and diseases

All the information presented here about the FERMT1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to FERMT1 gene

Symptoms // Phenotype % Cases
Squamous cell carcinoma Very Common - Between 80% and 100% cases
Gingivitis Very Common - Between 80% and 100% cases
Eczema Very Common - Between 80% and 100% cases
Abnormal blistering of the skin Very Common - Between 80% and 100% cases
Abnormality of the skull Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with FERMT1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Turricephaly
  • Ichthyosis
  • Gingival bleeding
  • Palmoplantar hyperkeratosis
  • Nail dystrophy
  • Papule
  • Finger syndactyly
  • Camptodactyly of finger

And 91 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to FERMT1 gene

Here you will find a list of rare diseases related to the FERMT1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


KINDLER SYNDROME


Alternate names

KINDLER SYNDROME Is also known as poikiloderma, hereditary acrokeratotic, poikiloderma of kindler, poikiloderma, congenital, with bullae, weary type, bullous acrokeratotic poikiloderma of kindler and weary, ks

Description

Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB), besides simplex, junctional and dystrophic forms, and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes.

Most common symptoms of KINDLER SYNDROME

  • Anemia
  • Flexion contracture
  • Dysphagia
  • Syndactyly
  • Hyperkeratosis


More info about KINDLER SYNDROME

SOURCES: OMIM ORPHANET

HEREDITARY ACROKERATOTIC POIKILODERMA, WEARY TYPE


Alternate names

HEREDITARY ACROKERATOTIC POIKILODERMA, WEARY TYPE Is also known as congenital poikiloderma with bullae, weary type

Most common symptoms of HEREDITARY ACROKERATOTIC POIKILODERMA, WEARY TYPE

  • Short stature
  • Hearing impairment
  • Abnormality of the skeletal system
  • Abnormality of the dentition
  • Narrow mouth


More info about HEREDITARY ACROKERATOTIC POIKILODERMA, WEARY TYPE

SOURCES: ORPHANET


Potential gene panels for FERMT1 gene

EBSeq Epidermolysis Bullosa Panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center EBSeq Epidermolysis Bullosa Panel that also includes the following genes: DST TGM5 FERMT1 CHST8 CD151 CDSN COL17A1 COL7A1 KLHL24 DSP

More info about this panel

FERMT1 Gene Sequencing Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the FERMT1 gene.

More info about this panel

FERMT1 Deletion/duplication analysis Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the FERMT1 gene.

More info about this panel

EB (Epidermolysis Bullosa) Deletion/Duplication panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center EB (Epidermolysis Bullosa) Deletion/Duplication panel that also includes the following genes: DST TGM5 FERMT1 CHST8 CD151 CDSN COL17A1 COL7A1 DSP EXPH5

More info about this panel

FERMT1 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the FERMT1 gene.

More info about this panel

Kindler syndrome (sequence analysis of FERMT1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the FERMT1 gene.

More info about this panel

Epidermolysis bullosa (NGS panel for 18 genes) Panel

Portugal.

By CGC Genetics Epidermolysis bullosa (NGS panel for 18 genes) that also includes the following genes: DST FERMT1 COL17A1 COL7A1 DSP EXPH5 ITGA3 ITGA6 ITGB4 KRT1

More info about this panel

Kindler syndrome (deletion/duplication analysis of FERMT1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the FERMT1 gene.

More info about this panel

Kindler syndrome (deletion/duplication analysis of FERMT1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the FERMT1 gene.

More info about this panel

Epidermolysis Bullosa and Related Disorders Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Epidermolysis Bullosa and Related Disorders Sequencing Panel with CNV Detection that also includes the following genes: DST TGM5 FERMT1 COL17A1 COL7A1 DSP ITGA3 ITGA6 ITGB4 JUP

More info about this panel

Kindler Syndrome via FERMT1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the FERMT1 gene.

More info about this panel

Epidermolysis bullosa Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Epidermolysis bullosa Comprehensive panel that also includes the following genes: DST TGM5 FERMT1 CHST8 CDSN COL17A1 COL7A1 CSTA KLHL24 DSP

More info about this panel

Epidermolysis bullosa NGS panel Panel

United States.

By Connective Tissue Gene Tests Epidermolysis bullosa NGS panel that also includes the following genes: DST TGM5 FERMT1 CHST8 CDSN COL17A1 COL7A1 CSTA KLHL24 DSP

More info about this panel

Epidermolysis bullosa Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Epidermolysis bullosa Deletion / Duplication panel that also includes the following genes: DST TGM5 FERMT1 CHST8 CDSN COL17A1 COL7A1 CSTA KLHL24 DSP

More info about this panel

Kindler syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the FERMT1 gene.

More info about this panel

Epidermolysis bullosa panel Panel

Germany.

By Centogene AG - the Rare Disease Company Epidermolysis bullosa panel that also includes the following genes: DST TGM5 FERMT1 CHST8 COL17A1 COL7A1 CSTA DSG1 DSP EXPH5

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

Genetic Epidermolyses and blistering disorders Panel Panel

Germany.

By CeGaT GmbH Genetic Epidermolyses and blistering disorders Panel that also includes the following genes: DST FERMT1 COL17A1 COL7A1 DSP EXPH5 ITGA3 ITGA6 ITGB4 KRT1

More info about this panel

FERMT1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the FERMT1 gene.

More info about this panel

Epidermolysis Bullosa Panel Panel

Finland.

By Blueprint Genetics Epidermolysis Bullosa Panel that also includes the following genes: DST TGM5 ATP2C1 FERMT1 CDSN GRIP1 DSG4 COL17A1 COL7A1 DSG1

More info about this panel

KINDLER SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the FERMT1 gene.

More info about this panel

EPIDERMOLISIS BULLOSA: NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL EPIDERMOLISIS BULLOSA: NGS PANEL that also includes the following genes: DST TGM5 FERMT1 COL17A1 COL7A1 KLHL24 DSP EXPH5 ITGA3 ITGA6

More info about this panel

Kindler Syndrome , Sequencing FERMT1 (KIND1) Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the FERMT1 gene.

More info about this panel

Kindler syndrome Panel

Germany.

By Labor Dr. Wisplinghoff

This panel specifically test the FERMT1 gene.

More info about this panel

Kindler Syndrome: gene deletion/duplication Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the FERMT1 gene.

More info about this panel

Kindler Syndrome: gene sequencing Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the FERMT1 gene.

More info about this panel


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