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.
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
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
Search interest in FERMT1
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 United States.
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 United States.
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 United States.
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 United States.
FERMT1 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the FERMT1 gene.
More info about this panel Germany.
Kindler syndrome (sequence analysis of FERMT1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the FERMT1 gene.
More info about this panel Portugal.
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 Portugal.
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 Portugal.
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 Portugal.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
Kindler syndrome Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the FERMT1 gene.
More info about this panel Germany.
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 Germany.
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 Germany.
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 Germany.
FERMT1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the FERMT1 gene.
More info about this panel United States.
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 Finland.
KINDLER SYNDROME Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the FERMT1 gene.
More info about this panel Spain.
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 Spain.
Kindler Syndrome , Sequencing FERMT1 (KIND1) Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the FERMT1 gene.
More info about this panel Spain.
Kindler syndrome Panel
Germany.
By Labor Dr. Wisplinghoff
This panel specifically test the FERMT1 gene.
More info about this panel Germany.
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 Canada.
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 Canada.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SUCLA2 NDUFS4 GCKR FIG4 CD28 SLC6A18 MUT