NTHL1 gene related symptoms and diseases

All the information presented here about the NTHL1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to NTHL1 gene

Symptoms // Phenotype % Cases
Neoplasm Very Common - Between 80% and 100% cases
Carcinoma Very Common - Between 80% and 100% cases
Nevus Very Common - Between 80% and 100% cases
Lymphoma Very Common - Between 80% and 100% cases
Neoplasm of the skin Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with NTHL1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Breast carcinoma
  • Squamous cell carcinoma
  • Basal cell carcinoma
  • Hodgkin lymphoma
  • Neoplasm of the pancreas
  • Meningioma
  • Prostate cancer
  • Bladder neoplasm

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

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Rare diseases associated to NTHL1 gene

Here you will find a list of rare diseases related to the NTHL1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


NTHL1-RELATED ATTENUATED FAMILIAL ADENOMATOUS POLYPOSIS


Alternate names

NTHL1-RELATED ATTENUATED FAMILIAL ADENOMATOUS POLYPOSIS Is also known as nthl1-related attenuated fap, nthl1-related afap

Description

Familial adenomatous polyposis-3 is an autosomal recessive cancer predisposition syndrome characterized by the development of multiple colonic adenomas, often with progression to colorectal cancer. Carcinomas affecting other tissues may also occur, and the carcinomas tend to develop in middle age or late adulthood (summary by Weren et al., 2015).For a discussion of genetic heterogeneity of familial adenomatous polyposis, see FAP1 (OMIM ).

Most common symptoms of NTHL1-RELATED ATTENUATED FAMILIAL ADENOMATOUS POLYPOSIS

  • Neoplasm
  • Carcinoma
  • Nevus
  • Lymphoma
  • Neoplasm of the skin


More info about NTHL1-RELATED ATTENUATED FAMILIAL ADENOMATOUS POLYPOSIS

SOURCES: OMIM ORPHANET


Potential gene panels for NTHL1 gene

Hereditary Cancer Panel- Comprehensive63 Panel

United States.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Hereditary Cancer Panel- Comprehensive63 that also includes the following genes: BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4 STK11

More info about this panel

CustomNext: Cancer Panel

United States.

By Ambry Genetics CustomNext: Cancer that also includes the following genes: BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4 SMARCB1

More info about this panel

Familial adenomatous polyposis 3 (sequence analysis of NTHL1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the NTHL1 gene.

More info about this panel

Familial adenomatous polyposis 3 (sequence analysis of NTHL1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the NTHL1 gene.

More info about this panel

Cancer Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Cancer Sequencing Panel with CNV Detection that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4

More info about this panel

Colorectal Cancer Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Colorectal Cancer Sequencing Panel with CNV Detection that also includes the following genes: BMPR1A STK11 EPCAM TP53 CDH1 GALNT12 GREM1 APC SMAD4 MLH1

More info about this panel

Hereditary Polyposis Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hereditary Polyposis Sequencing Panel with CNV Detection that also includes the following genes: APC MSH3 MUTYH NTHL1 POLD1 POLE

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

Familial adenomatous polyposis type 3 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the NTHL1 gene.

More info about this panel

CentoCancer panel Panel

Germany.

By Centogene AG - the Rare Disease Company CentoCancer panel that also includes the following genes: BLM BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 CDH1 CDK4 CDKN2A

More info about this panel

CentoColon extended panel Panel

Germany.

By Centogene AG - the Rare Disease Company CentoColon extended panel that also includes the following genes: BMPR1A STK11 EPCAM TP53 CDH1 APC SMAD4 MLH1 MSH2 MSH6

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

Nuclear-Mito NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7

More info about this panel

NTHL1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the NTHL1 gene.

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

Hereditary Colorectal Cancer Panel Panel

Finland.

By Blueprint Genetics Hereditary Colorectal Cancer Panel that also includes the following genes: BLM BMPR1A STK11 EPCAM TP53 GREM1 APC SMAD4 MLH1 MSH2

More info about this panel

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

Familial Adenomatous Polyposis, Panel Massive Sequencing (NGS) 7 Genes Panel

Spain.

By Reference Laboratory Genetics Familial Adenomatous Polyposis, Panel Massive Sequencing (NGS) 7 Genes that also includes the following genes: BMPR1A STK11 APC SMAD4 MUTYH NTHL1 PTEN

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


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