RHBDF2 gene related symptoms and diseases
All the information presented here about the RHBDF2 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 RHBDF2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Neoplasm | Very Common - Between 80% and 100% cases |
| Esophageal stricture | Very Common - Between 80% and 100% cases |
| Abnormality of the mouth | Very Common - Between 80% and 100% cases |
| Hiatus hernia | Very Common - Between 80% and 100% cases |
| Esophagitis | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with RHBDF2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Follicular hyperkeratosis
- Oral leukoplakia
- Hypergranulosis
- Stomach cancer
- Plantar hyperkeratosis
- Poor appetite
- Clubbing of toes
- Abnormality of the mediastinum
And 27 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to RHBDF2 gene
Here you will find a list of rare diseases related to the RHBDF2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
PALMOPLANTAR KERATODERMA-ESOPHAGEAL CARCINOMA SYNDROME
Alternate names
PALMOPLANTAR KERATODERMA-ESOPHAGEAL CARCINOMA SYNDROME Is also known as howell-evans syndrome, keratosis palmaris et plantaris with esophageal cancer, palmoplantar hyperkeratosis-esophageal carcinoma syndrome, palmoplantar keratoderma with esophageal cancer, tylosis-oesophageal carcinoma syndrome, bennion-patterson syndrome, kerato
Description
Palmoplantar keratoderma (PPK) is a complex group of hereditary syndromes that have been classified into diffuse, punctate, and focal forms according to the pattern of hyperkeratosis on the palms and soles (Lucker et al., 1994).For a discussion of phenotypic and genetic heterogeneity of palmoplantar keratoderma, see epidermolytic PPK (OMIM ).
Most common symptoms of PALMOPLANTAR KERATODERMA-ESOPHAGEAL CARCINOMA SYNDROME
- Neoplasm
- Hepatomegaly
- Dysphagia
- Edema
- Hernia
More info about PALMOPLANTAR KERATODERMA-ESOPHAGEAL CARCINOMA SYNDROME
Search interest in RHBDF2
Potential gene panels for RHBDF2 gene
RHBDF2 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the RHBDF2 gene.
More info about this panel Germany.
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 United States.
Tylosis with esophageal cancer (sequence analysis of RHBDF2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the RHBDF2 gene.
More info about this panel Portugal.
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 Germany.
Tylosis with esophageal cancer Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the RHBDF2 gene.
More info about this panel Germany.
Tylosis with esophageal cancer Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the RHBDF2 gene.
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.
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 Germany.
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 Estonia.
RHBDF2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the RHBDF2 gene.
More info about this panel United States.
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 Finland.
Hereditary Gastrointestinal Cancer Panel Panel
Finland.
By Blueprint Genetics Hereditary Gastrointestinal Cancer Panel that also includes the following genes: BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11 BUB1B
More info about this panel Finland.
PALMOPLANTAR KERATODERMA-ESOPHAGEAL CARCINOMA SYMDROME Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the RHBDF2 gene.
More info about this panel Spain.
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 Spain.
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 Canada.
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