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

SOURCES: MESH ORPHANET OMIM


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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