MLH3 gene related symptoms and diseases

All the information presented here about the MLH3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to MLH3 gene

Symptoms // Phenotype % Cases
Neoplasm Uncommon - Between 30% and 50% cases
Hereditary nonpolyposis colorectal carcinoma Uncommon - Between 30% and 50% cases
Carcinoma Uncommon - Between 30% and 50% cases
Leiomyosarcoma Uncommon - Between 30% and 50% cases
Colon cancer Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with MLH3 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Endometrial carcinoma
  • Rarely - Less than 30% cases

  • Neoplasm of the pancreas
  • Pituitary adenoma
  • Intestinal polyposis
  • Agnosia
  • Dysgraphia
  • Hepatocellular carcinoma
  • Amaurosis fugax

And 53 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to MLH3 gene

Here you will find a list of rare diseases related to the MLH3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


LYNCH SYNDROME


Alternate names

LYNCH SYNDROME Is also known as coca2, colon cancer, familial nonpolyposis, type 2, fcc2

Most common symptoms of LYNCH SYNDROME

  • Seizures
  • Neoplasm
  • Muscular hypotonia
  • Flexion contracture
  • Visual impairment


More info about LYNCH SYNDROME

SOURCES: ORPHANET OMIM

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 7; HNPCC7


Most common symptoms of COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 7; HNPCC7

  • Hereditary nonpolyposis colorectal carcinoma


More info about COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 7; HNPCC7

SOURCES: OMIM MESH

COLORECTAL CANCER; CRC


Alternate names

COLORECTAL CANCER; CRC Is also known as colon cancer

Description

Colorectal cancer is a heterogeneous disease that is common in both men and women. In addition to lifestyle and environmental risk factors, gene defects can contribute to an inherited predisposition to CRC. CRC is caused by changes in different molecular pathogenic pathways, such as chromosomal instability, CpG island methylator phenotype, and microsatellite instability. Chromosome instability is the most common alteration and is present in almost 85% of all cases (review by Schweiger et al., 2013). Genetic Heterogeneity of Colorectal CancerMutations in a single gene result in a marked predisposition to colorectal cancer in 2 distinct syndromes: familial adenomatous polyposis (FAP ) and hereditary nonpolyposis colorectal cancer (HNPCC; see {120435}). FAP is caused by mutations in the APC gene (OMIM ), whereas HNPCC is caused by mutations in several genes, including MSH2 (OMIM ), MLH1 (OMIM ), PMS1 (OMIM ), PMS2 (OMIM ), MSH6 (OMIM ), TGFBR2 (OMIM ), and MLH3 (OMIM ). Epigenetic silencing of MSH2 results in a form of HNPCC (see HNPCC8, {613244}). Other colorectal cancer syndromes include autosomal recessive adenomatous polyposis (OMIM ), which is caused by mutations in the MUTYH gene (OMIM ), and oligodontia-colorectal cancer syndrome (OMIM ), which is caused by mutations in the AXIN2 gene (OMIM ).The CHEK2 gene (OMIM ) has been implicated in susceptibility to colorectal cancer in Finnish patients. A germline mutation in the PLA2G2A gene (OMIM ) was identified in a patient with colorectal cancer.Germline susceptibility loci for colorectal cancer have also been identified. CRCS1 (OMIM ) is conferred by mutation in the GALNT12 gene (OMIM ) on chromosome 9q22; CRCS2 (OMIM ) maps to chromosome 8q24; CRCS3 (OMIM ) is conferred by variation in the SMAD7 gene (OMIM ) on chromosome 18; CRCS4 (OMIM ) is conferred by variation on 15q that causes increased and ectopic expression of the GREM1 gene (OMIM ); CRCS5 (OMIM ) maps to chromosome 10p14; CRCS6 (OMIM ) maps to chromosome 8q23; CRCS7 (OMIM ) maps to chromosome 11q23; CRCS8 (OMIM ) maps to chromosome 14q22; CRCS9 (OMIM ) maps to 16q22; CRCS10 (OMIM ) is conferred by mutation in the POLD1 gene (OMIM ) on chromosome 19q13; CRCS11 (OMIM ) maps to chromosome 20p12; and CRCS12 (OMIM ) is conferred by mutation in the POLE gene (OMIM ) on chromosome 12q24.Somatic mutations in many different genes, including KRAS (OMIM ), PIK3CA (OMIM ), BRAF (OMIM ), CTNNB1 (OMIM ), FGFR3 (OMIM ), AXIN2 (OMIM ), AKT1 (OMIM ), MCC (OMIM ), MYH11 (OMIM ), PARK2 (OMIM ), and RNF43 (OMIM ), have been identified in colorectal cancer.

Most common symptoms of COLORECTAL CANCER; CRC

  • Neoplasm
  • Carcinoma
  • Oligodontia
  • Colon cancer
  • Colitis


More info about COLORECTAL CANCER; CRC

SOURCES: OMIM

ENDOMETRIAL CANCER


Description

Cancer that forms in the tissue lining the uterus (the small, hollow, pear-shaped organ in a woman's pelvis in which a fetus develops). Most endometrial cancers are adenocarcinomas (cancers that begin in cells that make and release mucus and other fluids).

Most common symptoms of ENDOMETRIAL CANCER

  • Endometrial carcinoma


More info about ENDOMETRIAL CANCER

SOURCES: OMIM


Potential gene panels for MLH3 gene

Nonpolyposis hereditary colorectal cancer (sequence analysis of MLH3 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the MLH3 gene.

More info about this panel

Hereditary colon cancer (panel NGS of 21 genes) Panel

Portugal.

By CGC Genetics Hereditary colon cancer (panel NGS of 21 genes) that also includes the following genes: BMPR1A STK11 EPCAM TGFBR2 TP53 CDH1 GALNT12 APC SMAD4 MLH1

More info about this panel

Hereditary nonpolyposis colorectal cancer (metilation analysis and deletions/duplications analysis of MLH1, MLH3, MSH2, MSH3, MSH6, PMS2 and MGMT by MS-MLPA) Panel

Portugal.

By CGC Genetics Hereditary nonpolyposis colorectal cancer (metilation analysis and deletions/duplications analysis of MLH1, MLH3, MSH2, MSH3, MSH6, PMS2 and MGMT by MS-MLPA) that also includes the following genes: MLH1 MLH3 MSH2 MSH3 MSH6 PMS2

More info about this panel

Hereditary nonpolyposis colorectal cancer (metilation analysis and deletions/duplications analysis of MLH1, MLH3, MSH2, MSH3, MSH6, PMS2 and MGMT by MS-MLPA) Panel

Portugal.

By CGC Genetics Hereditary nonpolyposis colorectal cancer (metilation analysis and deletions/duplications analysis of MLH1, MLH3, MSH2, MSH3, MSH6, PMS2 and MGMT by MS-MLPA) that also includes the following genes: MLH1 MLH3 MSH2 MSH3 MSH6 PMS2

More info about this panel

Hereditary colon cancer (panel NGS of 21 genes) Panel

Portugal.

By CGC Genetics Hereditary colon cancer (panel NGS of 21 genes) that also includes the following genes: BMPR1A STK11 EPCAM TGFBR2 TP53 CDH1 GALNT12 APC SMAD4 MLH1

More info about this panel

Hereditary colorectal cancer Panel

Poland.

By Laboratory of Genetics BioTe21 Adam Master Hereditary colorectal cancer that also includes the following genes: BMPR1A STK11 APC SMAD4 MLH1 MLH3 MSH2 MSH6 MUTYH PMS2

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

Lynch Syndrome via MLH3 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the MLH3 gene.

More info about this panel

Hnpcc Deep Intronic Panel

Germany.

By MGZ Medical Genetics Center Hnpcc Deep Intronic that also includes the following genes: EPCAM MLH1 MLH3 MSH2 MSH3 MSH6 PMS1 PMS2

More info about this panel

Colorectal cancer, hereditary nonpolyposis type 7 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the MLH3 gene.

More info about this panel

MMR genes methylation analysis Panel

Germany.

By Centogene AG - the Rare Disease Company MMR genes methylation analysis that also includes the following genes: MGMT MLH1 MLH3 MSH2 MSH3 MSH6 PMS2

More info about this panel

COLON, BREAST AND OVARIAN CANCER Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases COLON, BREAST AND OVARIAN CANCER that also includes the following genes: BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 XRCC2 CDH1 BRIP1 PALB2

More info about this panel

MLH3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MLH3 gene.

More info about this panel

Colorectal Cancer Comprehensive Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Colorectal Cancer Comprehensive Panel that also includes the following genes: BMPR1A STK11 EPCAM TP53 GALNT12 GREM1 APC SMAD4 MLH1 MLH3

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

COLORECTAL CANCER, NONPOLYPOSIC (LYNCH SYNDROME) Panel

Spain.

By Laboratorio de Genetica Clinica SL COLORECTAL CANCER, NONPOLYPOSIC (LYNCH SYNDROME) that also includes the following genes: MLH1 MLH3 MSH2 MSH6 PMS1 PMS2

More info about this panel

COLORECTAL CANCER HEREDITARY NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL COLORECTAL CANCER HEREDITARY NGS PANEL that also includes the following genes: BMPR1A STK11 EPCAM TGFBR2 TP53 GREM1 APC SMAD4 MLH1 MLH3

More info about this panel

BREAST AND OVARIAN CANCER NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL BREAST AND OVARIAN CANCER NGS PANEL that also includes the following genes: BLM BRCA1 BRCA2 STK11 EPCAM TP53 WRN CDH1 PSMC3IP TNFRSF13B

More info about this panel

COLORECTAL CANCER, NONPOLYPOSIC (LYNCH SYNDROME) NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL COLORECTAL CANCER, NONPOLYPOSIC (LYNCH SYNDROME) NGS PANEL that also includes the following genes: EPCAM TGFBR2 MLH1 MLH3 MSH2 MSH6 PMS1 PMS2

More info about this panel

Hereditary Non-Polyposis Colon Cancer , Sequencing MLH3 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the MLH3 gene.

More info about this panel

Familial Pancreatic Cancer , Panel Massive Sequencing (NGS) 16 Genes Panel

Spain.

By Reference Laboratory Genetics Familial Pancreatic Cancer , Panel Massive Sequencing (NGS) 16 Genes that also includes the following genes: BRCA1 BRCA2 STK11 TGFBR2 TP53 CDKN2A PALB2 APC KRAS SMAD4

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

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel

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

PrimBio Colorectal Cancer Panel Panel

United States.

By PrimBio Research Institute PrimBio Research Institute PrimBio Colorectal Cancer Panel that also includes the following genes: BLM BMPR1A SCG5 BRAF BRCA1 STK11 BUB1B EPCAM TCF7L2 TGFBR2

More info about this panel


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