AXIN2 gene related symptoms and diseases

All the information presented here about the AXIN2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to AXIN2 gene

Symptoms // Phenotype % Cases
Oligodontia Common - Between 50% and 80% cases
Neoplasm Uncommon - Between 30% and 50% cases
Neoplasm of the stomach Rare - less than 30% cases
Abnormality of the face Rare - less than 30% cases
Microdontia Rare - less than 30% cases

Other less frequent symptoms and clinical features

Patients with AXIN2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Rarely - Less than 30% cases

  • Hypoplasia of the maxilla
  • Micrognathia
  • Adenomatous colonic polyposis
  • Reduced number of teeth
  • Sparse scalp hair
  • Uterine leiomyosarcoma
  • Transitional cell carcinoma of the bladder
  • Hereditary nonpolyposis colorectal carcinoma

And 10 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to AXIN2 gene

Here you will find a list of rare diseases related to the AXIN2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


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

OLIGODONTIA-CANCER PREDISPOSITION SYNDROME


Alternate names

OLIGODONTIA-CANCER PREDISPOSITION SYNDROME Is also known as autosomal dominant ectodermal dysplasia-cancer predisposition syndrome, tooth agenesis-colorectal cancer syndrome

Description

Oligodontia-cancer predisposition syndrome is a rare, genetic, odontologic disease characterized by congenital absence of six or more permanent teeth (excluding the third molars) in association with an increased risk for malignancies, ranging from gastrointestinal polyposis to early-onset colorectal cancer and/or breast cancer. Ectodermal dysplasia (manifesting with sparse hair and/or eyebrows) may also be associated.

Most common symptoms of OLIGODONTIA-CANCER PREDISPOSITION SYNDROME

  • Neoplasm
  • Sparse scalp hair
  • Oligodontia
  • Reduced number of teeth
  • Adenomatous colonic polyposis


More info about OLIGODONTIA-CANCER PREDISPOSITION SYNDROME

SOURCES: OMIM MESH ORPHANET

AXIN2-RELATED ATTENUATED FAMILIAL ADENOMATOUS POLYPOSIS


Alternate names

AXIN2-RELATED ATTENUATED FAMILIAL ADENOMATOUS POLYPOSIS Is also known as axin2-related attenuated familial polyposis coli, axin2-related afap, axin2-related attenuated fap


More info about AXIN2-RELATED ATTENUATED FAMILIAL ADENOMATOUS POLYPOSIS

SOURCES: ORPHANET

OLIGODONTIA


Alternate names

OLIGODONTIA Is also known as selective tooth agenesis

Description

Oligodontia is a rare developmental dental anomaly in humans characterized by the absence of six or more teeth.

Most common symptoms of OLIGODONTIA

  • Micrognathia
  • Hypoplasia of the maxilla
  • Microdontia
  • Abnormality of the face
  • Oligodontia


More info about OLIGODONTIA

SOURCES: ORPHANET


Potential gene panels for AXIN2 gene

VistaSeq Colorectal Cancer Panel Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta VistaSeq Colorectal Cancer Panel that also includes the following genes: BLM BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 CDH1 CDKN2A APC

More info about this panel

Colorectal Polyposis Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Colorectal Polyposis Panel that also includes the following genes: BMPR1A STK11 BUB1B GREM1 ENG APC SMAD4 MUTYH AXIN2 POLD1

More info about this panel

Comprehensive Hereditary Colorectal Cancer Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Comprehensive Hereditary Colorectal Cancer Panel that also includes the following genes: BMPR1A STK11 BUB1B EPCAM TP53 CDH1 GALNT12 GREM1 ENG APC

More info about this panel

Comprehensive Cancer Panel Panel

United States.

By GeneDx Comprehensive Cancer Panel that also includes the following genes: BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 VHL XRCC2 CDH1 CDK4

More info about this panel

Colorectal Cancer Panel Panel

United States.

By GeneDx Colorectal Cancer Panel that also includes the following genes: BMPR1A STK11 EPCAM TP53 CDH1 GREM1 APC SMAD4 MLH1 MSH2

More info about this panel

OncoGeneDx Custom Panel Panel

United States.

By GeneDx OncoGeneDx Custom Panel that also includes the following genes: BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 VHL XRCC2 CDH1 CDK4

More info about this panel

Hereditary Cancer Panel - Colorectal23 Panel

United States.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Hereditary Cancer Panel - Colorectal23 that also includes the following genes: BMPR1A STK11 EPCAM TP53 CDH1 GALNT12 GREM1 APC SMAD4 MLH1

More info about this panel

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

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

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 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

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

Oligodontia-Colorectal Cancer via AXIN2 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the AXIN2 gene.

More info about this panel

Tooth Agenesis Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Tooth Agenesis Sequencing Panel with CNV Detection that also includes the following genes: WNT10A EDARADD EDAR EDA LTBP3 MSX1 PAX9 AXIN2

More info about this panel

Oligodontia - Selective tooth agenesis Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Oligodontia - Selective tooth agenesis Comprehensive panel that also includes the following genes: WNT10B WNT10A EDA LRP6 LTBP3 MSX1 PAX9 AXIN2 PTH1R

More info about this panel

Oligodontia - Selective tooth agenesis NGS panel Panel

United States.

By Connective Tissue Gene Tests Oligodontia - Selective tooth agenesis NGS panel that also includes the following genes: WNT10B WNT10A EDA LRP6 LTBP3 MSX1 PAX9 AXIN2 PTH1R

More info about this panel

Oligodontia - Selective tooth agenesis Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Oligodontia - Selective tooth agenesis Deletion / Duplication panel that also includes the following genes: WNT10B WNT10A EDA LRP6 LTBP3 MSX1 PAX9 AXIN2 PTH1R

More info about this panel

AXIN2 Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the AXIN2 gene.

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

AXIN2 Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht

This panel specifically test the AXIN2 gene.

More info about this panel

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

Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel Panel

Germany.

By CeGaT GmbH Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel that also includes the following genes: BCS1L SNRPE SOX18 ST14 TRPS1 IFT122 WNT10A EDARADD SHOC2 LPAR6

More info about this panel

Colorectal cancer Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the AXIN2 gene.

More info about this panel

Oligodontia-colorectal cancer syndrome Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the AXIN2 gene.

More info about this panel

qGenEx Craniofacial Anomalies Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qGenEx Craniofacial Anomalies that also includes the following genes: RUNX2 SALL1 TSHZ1 BMP4 SEMA3E SF3B4 SH3BP2 SHH SIX1 SIX3

More info about this panel

Colorectal cancer Panel

Slovakia.

By MedGene

This panel specifically test the AXIN2 gene.

More info about this panel

Oligodontia-colorectal cancer syndrome Panel

Slovakia.

By MedGene

This panel specifically test the AXIN2 gene.

More info about this panel

Invitae Common Hereditary Cancers Panel (Breast, Gyn, GI) Panel

United States.

By Invitae Invitae Common Hereditary Cancers Panel (Breast, Gyn, GI) that also includes the following genes: SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4 STK11 EPCAM

More info about this panel

Invitae Oligodontia-Colorectal Cancer Syndrome Test Panel

United States.

By Invitae

This panel specifically test the AXIN2 gene.

More info about this panel

Invitae Multi-Cancer Panel Panel

United States.

By Invitae Invitae Multi-Cancer Panel that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4

More info about this panel

Invitae Pediatric Solid Tumors Panel Panel

United States.

By Invitae Invitae Pediatric Solid Tumors Panel that also includes the following genes: BLM SDHA SDHB SDHC SDHD BMPR1A SMARCA4 SMARCB1 SMARCE1 STK11

More info about this panel

Invitae Colorectal Cancer Panel Panel

United States.

By Invitae Invitae Colorectal Cancer Panel that also includes the following genes: BMPR1A STK11 EPCAM TP53 CDH1 GREM1 APC SMAD4 MLH1 MSH2

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

Colon Cancer NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Colon Cancer NGS Panel that also includes the following genes: BMPR1A STK11 BUB1B EPCAM TP53 CDH1 CDKN2A GALNT12 FLCN EXO1

More info about this panel

Hereditary Cancer NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Hereditary Cancer NGS Panel that also includes the following genes: ROBO2 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1

More info about this panel

AXIN2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the AXIN2 gene.

More info about this panel

Focus Cancer Panel - 40 Genes Panel

United States.

By Fulgent Genetics Fulgent Genetics Focus Cancer Panel - 40 Genes that also includes the following genes: BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 VHL CDH1 CDK4 CDKN2A

More info about this panel

Colorectal Cancer Focus Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Colorectal Cancer Focus Panel that also includes the following genes: BMPR1A STK11 EPCAM TP53 APC SMAD4 MLH1 MSH2 MSH6 MUTYH

More info about this panel

Comprehensive Cancer Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Comprehensive Cancer Panel that also includes the following genes: ROBO2 RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2

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

Hereditary Pediatric Cancer Panel Panel

Finland.

By Blueprint Genetics Hereditary Pediatric Cancer Panel that also includes the following genes: RIT1 RRAS RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRAF

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

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

POLYPOSIS, FAMILIAL ADENOMATOUS (FAP) & POLYPOSIS, JUVENILE NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL POLYPOSIS, FAMILIAL ADENOMATOUS (FAP) & POLYPOSIS, JUVENILE NGS PANEL that also includes the following genes: BMPR1A APC SMAD4 MSH3 MUTYH AXIN2 PTEN

More info about this panel

Providence Personalized Medicine Panel - Solid Tumor Panel

United States.

By Providence Regional Laboratories Providence Health and Services Providence Personalized Medicine Panel - Solid Tumor that also includes the following genes: BCR ROS1 RUNX1 SDHA SDHB SDHC SDHD SF3B1 SRSF2 FOXL2

More info about this panel

Phosphorus Colorectal Cancer Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Colorectal Cancer Panel that also includes the following genes: BMPR1A STK11 EPCAM TP53 CDH1 GREM1 APC SMAD4 MLH1 MSH2

More info about this panel

Phosphorus Pan-Cancer Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Pan-Cancer Panel that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4

More info about this panel

Phosphorus Pediatric Cancers Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Pediatric Cancers Panel that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A SMARCB1 STK11 EPCAM

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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