CTNNB1 gene related symptoms and diseases

All the information presented here about the CTNNB1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, 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 CTNNB1 gene

Symptoms // Phenotype	% Cases
Neoplasm	Common - Between 50% and 80% cases
Carcinoma	Uncommon - Between 30% and 50% cases
Abdominal pain	Uncommon - Between 30% and 50% cases
Fatigue	Uncommon - Between 30% and 50% cases
Exudative vitreoretinopathy	Rare - less than 30% cases

Other less frequent symptoms and clinical features

Patients with CTNNB1 gene alterations may also develop some of the following symptoms and phenotypes:

Rarely - Less than 30% cases
Colon cancer
Microcephaly
Nausea and vomiting
Vomiting
Neoplasm of the skin
Constipation
Gastrointestinal hemorrhage
Increased body weight

And 217 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to CTNNB1 gene

Here you will find a list of rare diseases related to the CTNNB1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

STEVENS-JOHNSON SYNDROME

Alternate names

STEVENS-JOHNSON SYNDROME Is also known as dermatostomatitis, stevens johnson type

Description

Stevens-Johnson syndrome is a limited form of toxic epidermal necrolysis (see this term) characterized by destruction and detachment of the skin epithelium and mucous membranes involving less than 10% of the body surface area.

Most common symptoms of STEVENS-JOHNSON SYNDROME

Anemia
Visual impairment
Fever
Fatigue
Dysphagia

More info about STEVENS-JOHNSON SYNDROME

SOURCES: MESH OMIM ORPHANET

FAMILIAL EXUDATIVE VITREORETINOPATHY

Alternate names

FAMILIAL EXUDATIVE VITREORETINOPATHY Is also known as fevr, autosomal dominant, criswick-schepens syndrome, exudative vitreoretinopathy, familial, autosomal dominant, fevr

Description

Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness.

Most common symptoms of FAMILIAL EXUDATIVE VITREORETINOPATHY

Microcephaly
Cataract
Blindness
Glaucoma
Reduced visual acuity

More info about FAMILIAL EXUDATIVE VITREORETINOPATHY

SOURCES: OMIM ORPHANET

SEVERE INTELLECTUAL DISABILITY-PROGRESSIVE SPASTIC DIPLEGIA SYNDROME

Description

Severe intellectual disability-progressive spastic diplegia syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by intellectual disability, significant motor delay, severe speech impairment, early-onset truncal hypotonia with progressive distal hypertonia/spasticity, microcephaly, and behavioral anomalies (autistic features, aggression or auto-aggressive behavior, sleep disturbances). Variable facial dysmorphism includes broad nasal tip with small alae nasi, long and/or flat philtrum, thin upper lip vermillion. Visual impairment (strabismus, hyperopia, myopia) is commonly associated.

Most common symptoms of SEVERE INTELLECTUAL DISABILITY-PROGRESSIVE SPASTIC DIPLEGIA SYNDROME

Intellectual disability
Seizures
Global developmental delay
Generalized hypotonia
Hearing impairment

More info about SEVERE INTELLECTUAL DISABILITY-PROGRESSIVE SPASTIC DIPLEGIA SYNDROME

SOURCES: ORPHANET OMIM

EXUDATIVE VITREORETINOPATHY 7; EVR7

Most common symptoms of EXUDATIVE VITREORETINOPATHY 7; EVR7

Nystagmus
Scarring
Retinal degeneration
Retinal detachment
Vitreoretinopathy

More info about EXUDATIVE VITREORETINOPATHY 7; EVR7

SOURCES: OMIM

PILOMATRIXOMA

Alternate names

PILOMATRIXOMA Is also known as epithelioma calcificans of malherbe, pilomatricoma, ptr

Description

Pilomatrixoma is a rare and benign hair cell-derived tumor occurring mostly in young adults (usually under the age of 20) and characterized as a 3-30 mm solitary, painless, firm, mobile, deep dermal or subcutaneous tumor, most commonly found in the head, neck or upper extremities. When superficial, the tumors tint the skin blue-red. Multiple pilomatrixomas are seen in myotonic dystrophy, Gardner syndrome, Rubinstein-Taybi syndrome, and Turner syndrome (see these terms).

Most common symptoms of PILOMATRIXOMA

Neoplasm
Carcinoma
Neoplasm of the skin
Pilomatrixoma

More info about PILOMATRIXOMA

SOURCES: ORPHANET MESH OMIM

DESMOID TUMOR

Alternate names

DESMOID TUMOR Is also known as fif, aggressive fibromatosis, desmoid type fibromatosis, fibromatosis, familial infiltrative

Description

A desmoid tumor (DT) is a benign, locally invasive soft tissue tumor associated with a high recurrence rate but with no metastatic potential.

Most common symptoms of DESMOID TUMOR

Neoplasm
Abdominal pain
Arthralgia
Myalgia
Hydronephrosis

More info about DESMOID TUMOR

SOURCES: ORPHANET OMIM

PEDIATRIC HEPATOCELLULAR CARCINOMA

Alternate names

PEDIATRIC HEPATOCELLULAR CARCINOMA Is also known as liver cancer, lcc, childhood-onset hcc, hcc, liver cell carcinoma, hepatoma, cancer, hepatocellular, childhood-onset hepatocellular carcinoma, pediatric hcc

Description

Pediatric hepatocellular carcinoma (pediatric HCC) is a rare, aggressive, malignant hepatic tumor that develops mainly in children over 10 years of age.

Most common symptoms of PEDIATRIC HEPATOCELLULAR CARCINOMA

Microcephaly
Neoplasm
Cryptorchidism
Motor delay
Hepatomegaly

More info about PEDIATRIC HEPATOCELLULAR CARCINOMA

SOURCES: OMIM ORPHANET

DESMOPLASTIC/NODULAR MEDULLOBLASTOMA

Description

Desmoplastic/nodular medulloblastoma is a histological variant of medulloblastoma (see this term), an embryonic malignancy, often located in one of the cerebellar hemispheres, occurring most frequently in adults and manifesting with symptoms such as vomiting and headache.

Most common symptoms of DESMOPLASTIC/NODULAR MEDULLOBLASTOMA

Neoplasm
Carcinoma
Nevus
Basal cell carcinoma
Colon cancer

More info about DESMOPLASTIC/NODULAR MEDULLOBLASTOMA

SOURCES: ORPHANET OMIM

OVARIAN CANCER

Description

Ovarian cancer, the leading cause of death from gynecologic malignancy, is characterized by advanced presentation with loco-regional dissemination in the peritoneal cavity and the rare incidence of visceral metastases (Chi et al., 2001). These typical features relate to the biology of the disease, which is a principal determinant of outcome (Auersperg et al., 2001). Epithelial ovarian cancer is the most common form and encompasses 5 major histologic subtypes: papillary serous, endometrioid, mucinous, clear cell, and transitional cell. Epithelial ovarian cancer arises as a result of genetic alterations sustained by the ovarian surface epithelium (Stany et al., 2008; Soslow, 2008).

Most common symptoms of OVARIAN CANCER

Neoplasm
Pain
Fatigue
Respiratory distress
Vomiting

More info about OVARIAN CANCER

SOURCES: OMIM ORPHANET

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

CRANIOPHARYNGIOMA

Description

Craniopharyngiomas are benign slow growing tumours that are located within the sellar and parasellar regions of the central nervous system.

Most common symptoms of CRANIOPHARYNGIOMA

Intellectual disability
Seizures
Global developmental delay
Hearing impairment
Growth delay

More info about CRANIOPHARYNGIOMA

SOURCES: ORPHANET

ADULT HEPATOCELLULAR CARCINOMA

Alternate names

ADULT HEPATOCELLULAR CARCINOMA Is also known as adult hcc

Description

Adult hepatocellular carcinoma is the most common primary liver cancer of adulthood. Derived from well-differentiated hepatocytes, it often develops from chronic liver cirrhosis which is most often due to hepatitis B and C virus or alcohol abuse. Symptoms are hepatic mass, abdominal pain and, in advanced stages, jaundice, cachexia and liver failure.

More info about ADULT HEPATOCELLULAR CARCINOMA

SOURCES: ORPHANET

Search interest in CTNNB1

Potential gene panels for CTNNB1 gene

Syndromic Autism Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Syndromic Autism Panel that also includes the following genes: SCN1A SCN2A BRAF SLC2A1 SLC9A6 SMC1A KDM5C CDKL5 STXBP1 TBR1

CTNNB1 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to CTNNB1 gene

Other less frequent symptoms and clinical features

Rarely - Less than 30% cases

Rare diseases associated to CTNNB1 gene

STEVENS-JOHNSON SYNDROME

Alternate names

Description

Most common symptoms of STEVENS-JOHNSON SYNDROME

FAMILIAL EXUDATIVE VITREORETINOPATHY

Alternate names

Description

Most common symptoms of FAMILIAL EXUDATIVE VITREORETINOPATHY

SEVERE INTELLECTUAL DISABILITY-PROGRESSIVE SPASTIC DIPLEGIA SYNDROME

Description

Most common symptoms of SEVERE INTELLECTUAL DISABILITY-PROGRESSIVE SPASTIC DIPLEGIA SYNDROME

EXUDATIVE VITREORETINOPATHY 7; EVR7

Most common symptoms of EXUDATIVE VITREORETINOPATHY 7; EVR7

PILOMATRIXOMA

Alternate names

Description

Most common symptoms of PILOMATRIXOMA

DESMOID TUMOR

Alternate names

Description

Most common symptoms of DESMOID TUMOR

PEDIATRIC HEPATOCELLULAR CARCINOMA

Alternate names

Description

Most common symptoms of PEDIATRIC HEPATOCELLULAR CARCINOMA

DESMOPLASTIC/NODULAR MEDULLOBLASTOMA

Description

Most common symptoms of DESMOPLASTIC/NODULAR MEDULLOBLASTOMA

OVARIAN CANCER

Description

Most common symptoms of OVARIAN CANCER

COLORECTAL CANCER; CRC

Alternate names

Description

Most common symptoms of COLORECTAL CANCER; CRC

CRANIOPHARYNGIOMA

Description

Most common symptoms of CRANIOPHARYNGIOMA

ADULT HEPATOCELLULAR CARCINOMA

Alternate names

Description

Search interest in CTNNB1

Potential gene panels for CTNNB1 gene

Syndromic Autism Panel Panel

Rett-Angelman Syndrome 2nd-Tier Sequencing Panel Panel

Non-Specific Intellectual Disability Panel Panel

Microcephaly Sequencing Panel Panel

Microcephaly Deletion/Duplication Panel Panel

CTNNB1. Complete sequencing Panel

Colorectal cancer, somatic (sequence analysis of CTNNB1 gene) Panel

Comprehensive Vitreoretinopathy Sequencing Panel with CNV Detection Panel

Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel

Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection Panel

Mental retardation - different panels Panel

Custom solid tumor gene sequencing panel Panel

Mental Retardation and Dysmorphology - panels Panel

Syndromal Diseases - panels Panel

Cancer Hotspot Panel Panel

Solid Tumor Panel Panel

Colorectal cancer, somatic Panel

Ovarian cancer, somatic Panel

Hepatocellular carcinoma, somatic Panel

AllNeuro panel Panel

Colorectal cancer, somatic Panel

Arrhythmogenic cardiomyopathy Panel

Cardiovascular Diseases_General Panel Panel

Arrhythmia General Panel Panel

Cardiomyopathies General Panel Panel

Hereditary Cancer NGS Panel Panel

Intellectual Disability NGS Panel Panel

CTNNB1 Panel

Hemato-oncology chromosomal microarray Panel

Retinal Dystrophy Panel Panel

Spastic Paraplegia Panel Panel

Vitreoretinopathy Panel Panel