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.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

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.

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

Search interest in AXIN2

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

AXIN2 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to AXIN2 gene

Other less frequent symptoms and clinical features

Rarely - Less than 30% cases

Rare diseases associated to AXIN2 gene

COLORECTAL CANCER; CRC

Alternate names

Description

Most common symptoms of COLORECTAL CANCER; CRC

OLIGODONTIA-CANCER PREDISPOSITION SYNDROME

Alternate names

Description

Most common symptoms of OLIGODONTIA-CANCER PREDISPOSITION SYNDROME

AXIN2-RELATED ATTENUATED FAMILIAL ADENOMATOUS POLYPOSIS

Alternate names

OLIGODONTIA

Alternate names

Description

Most common symptoms of OLIGODONTIA

Search interest in AXIN2

Potential gene panels for AXIN2 gene

VistaSeq Colorectal Cancer Panel Panel

Colorectal Polyposis Panel Panel

Comprehensive Hereditary Colorectal Cancer Panel Panel

Comprehensive Cancer Panel Panel

Colorectal Cancer Panel Panel

OncoGeneDx Custom Panel Panel

Hereditary Cancer Panel - Colorectal23 Panel

Hereditary Cancer Panel- Comprehensive63 Panel

CHOP Comprehensive Hereditary Cancer Panel Panel

Hereditary colon cancer (panel NGS of 21 genes) Panel

Hereditary colon cancer (panel NGS of 21 genes) Panel

Cancer Sequencing Panel with CNV Detection Panel

Colorectal Cancer Sequencing Panel with CNV Detection Panel

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

Tooth Agenesis Sequencing Panel with CNV Detection Panel

Oligodontia - Selective tooth agenesis Comprehensive panel Panel

Oligodontia - Selective tooth agenesis NGS panel Panel

Oligodontia - Selective tooth agenesis Deletion / Duplication panel Panel

AXIN2 Panel

Hereditary Cancer Syndromes - panels Panel

AXIN2 Panel

Disorders associated with malignancy Panel Panel

Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel Panel

Colorectal cancer Panel

Oligodontia-colorectal cancer syndrome Panel

qGenEx Craniofacial Anomalies Panel

Colorectal cancer Panel

Oligodontia-colorectal cancer syndrome Panel

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

Invitae Oligodontia-Colorectal Cancer Syndrome Test Panel

Invitae Multi-Cancer Panel Panel

Invitae Pediatric Solid Tumors Panel Panel

Invitae Colorectal Cancer Panel Panel

COLON, BREAST AND OVARIAN CANCER Panel

Colon Cancer NGS Panel Panel

Hereditary Cancer NGS Panel Panel

AXIN2 Panel

Focus Cancer Panel - 40 Genes Panel

Colorectal Cancer Focus Panel Panel

Comprehensive Cancer Panel Panel

Colorectal Cancer Comprehensive Panel Panel

Hereditary Pediatric Cancer Panel Panel

Comprehensive Hereditary Cancer Panel Panel

Hereditary Colorectal Cancer Panel Panel

Hereditary Gastrointestinal Cancer Panel Panel

COLORECTAL CANCER HEREDITARY NGS PANEL Panel

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

Providence Personalized Medicine Panel - Solid Tumor Panel

Phosphorus Colorectal Cancer Panel Panel

Phosphorus Pan-Cancer Panel Panel

Phosphorus Pediatric Cancers Panel Panel

Tempus xT assay Panel

Tempus xO assay Panel

CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel Panel

PrimBio Colorectal Cancer Panel Panel