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.
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
Search interest in NTHL1
Potential gene panels for NTHL1 gene
Hereditary Cancer Panel- Comprehensive63 Panel
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 panelCustomNext: Cancer Panel
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 panelFamilial adenomatous polyposis 3 (sequence analysis of NTHL1 gene) Panel
By CGC Genetics
This panel specifically test the NTHL1 gene.
More info about this panelFamilial adenomatous polyposis 3 (sequence analysis of NTHL1 gene) Panel
By CGC Genetics
This panel specifically test the NTHL1 gene.
More info about this panelCancer Sequencing Panel with CNV Detection Panel
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 panelColorectal Cancer Sequencing Panel with CNV Detection Panel
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 panelHereditary Polyposis Sequencing Panel with CNV Detection Panel
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 panelHereditary Cancer Syndromes - panels Panel
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 panelFamilial adenomatous polyposis type 3 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the NTHL1 gene.
More info about this panelCentoCancer panel Panel
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 panelCentoColon extended panel Panel
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 panelCancer Predisposition Panel
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 panelNuclear-Mito NGS Panel Panel
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 panelNTHL1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the NTHL1 gene.
More info about this panelComprehensive Hereditary Cancer Panel Panel
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 panelHereditary Colorectal Cancer Panel Panel
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 panelHereditary Gastrointestinal Cancer Panel Panel
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 panelFamilial Adenomatous Polyposis, Panel Massive Sequencing (NGS) 7 Genes Panel
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 panelTempus xT assay Panel
By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA
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