TGFBR2 gene related symptoms and diseases

All the information presented here about the TGFBR2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, 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 TGFBR2 gene

Symptoms // Phenotype	% Cases
Chest pain	Uncommon - Between 30% and 50% cases
Neoplasm	Uncommon - Between 30% and 50% cases
Nausea and vomiting	Uncommon - Between 30% and 50% cases
Dural ectasia	Uncommon - Between 30% and 50% cases
Inguinal hernia	Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with TGFBR2 gene alterations may also develop some of the following symptoms and phenotypes:

Not very common - Between 30% and 50% cases
Patent ductus arteriosus
Weight loss
Dilatation
Retrognathia
Thoracic aortic aneurysm
Pes planus
Aortic aneurysm
Dilatation of the cerebral artery

And 203 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to TGFBR2 gene

Here you will find a list of rare diseases related to the TGFBR2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

MARFAN SYNDROME TYPE 1

Alternate names

MARFAN SYNDROME TYPE 1 Is also known as aortic aneurysm, familial thoracic 3, marfan syndrome, type ii, formerly, mfs1, aat3

Most common symptoms of MARFAN SYNDROME TYPE 1

Intellectual disability
Global developmental delay
Scoliosis
Hypertelorism
Micrognathia

More info about MARFAN SYNDROME TYPE 1

SOURCES: ORPHANET OMIM

LOEYS-DIETZ SYNDROME

Alternate names

LOEYS-DIETZ SYNDROME Is also known as aortic aneurysm syndrome due to tgf-beta receptors anomalies, aneurysm, aortic and cerebral, with arterial tortuosity and skeletal manifestations

Description

Loeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with four genetic subtypes described forming a clinical continuum.

Most common symptoms of LOEYS-DIETZ SYNDROME

Scoliosis
Hypertelorism
Micrognathia
High palate
Downslanted palpebral fissures

More info about LOEYS-DIETZ SYNDROME

SOURCES: OMIM ORPHANET

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 6; HNPCC6

Alternate names

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6; HNPCC6 Is also known as colon cancer, hereditary nonpolyposis, type 6

Most common symptoms of COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6; HNPCC6

Neoplasm
Hereditary nonpolyposis colorectal carcinoma

More info about COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6; HNPCC6

SOURCES: MESH OMIM

GASTROINTESTINAL STROMAL TUMOR

Alternate names

GASTROINTESTINAL STROMAL TUMOR Is also known as gastrointestinal stromal sarcoma, gist

Description

Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1.

Most common symptoms of GASTROINTESTINAL STROMAL TUMOR

Neoplasm
Pain
Anemia
Fever
Fatigue

More info about GASTROINTESTINAL STROMAL TUMOR

SOURCES: OMIM ORPHANET MESH

FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION

Alternate names

FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION Is also known as familial taad

Description

Familial thoracic aortic aneurysm and aortic dissection is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture.

Most common symptoms of FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION

Scoliosis
Hypertelorism
Hypertension
Dilatation
Patent ductus arteriosus

More info about FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION

SOURCES: ORPHANET

ESOPHAGEAL CANCER

Description

Esophageal cancer, particularly esophageal squamous cell carcinoma (ESCC), is one of the most common cancers worldwide. Both environmental and genetic risk factors play a role in the pathogenesis of the disorder. In Europe and North America, heavy smoking, alcohol consumption, and increased body mass index (BMI) are the main environmental risk factors. In contrast, the particularly high incidence of ESCC in some areas of China, central Asia, and southern Africa is associated with nutritional deficiencies, high intake of nitrosamine-rich or pickled vegetables, and low socioeconomic status; smoking, alcohol consumption, and BMI play a lesser role in these populations. There is a tendency for familial aggregation of ESCC in high-risk geographic areas, suggesting a genetic component to increased susceptibility. Gastric cardia adenocarcinoma is another common type of cancer in China that shows similarities to ESCC in terms of geographic distribution and environmental risk factors (summary by Wang et al., 2010 and Abnet et al., 2010). Genetic Heterogeneity of Susceptibility to Esophageal CancerSee a variant in the ADH1B gene ({103720.0001}) for discussion of a possible genetic association with protection against squamous cell aerodigestive tract cancer, including esophageal cancer, in alcohol drinkers. See a variant in the ALDH2 gene ({100650.0001}) for discussion of a possible genetic association with increased risk for esophageal cancer in alcohol drinkers due to interaction between variants in the ADH1B and ALDH2 genes.See the S100A14 gene (OMIM ) on chromosome 1q21 for a discussion of a possible association between variation in that gene and susceptibility to esophageal squamous cell carcinoma among smokers. Genetic Heterogeneity of Somatic Mutations in Esophageal CancerSomatic mutations in several different genes have been found in esophageal cancer tissue. These genes include TP53 (OMIM ), CDKN2A (OMIM ), DEC1 (OMIM ), DCC (OMIM ), DLEC1 (OMIM ), TGFBR2 (OMIM ), LZTS1 (OMIM ), RNF6 (OMIM ), WWOX (OMIM ), APC (OMIM ), and RUNX3 (OMIM ).

Most common symptoms of ESOPHAGEAL CANCER

Neoplasm
Dysphagia
Obesity
Weight loss
Gastroesophageal reflux

More info about ESOPHAGEAL CANCER

SOURCES: ORPHANET OMIM

MARFAN SYNDROME TYPE 2

Alternate names

MARFAN SYNDROME TYPE 2 Is also known as mfs2

More info about MARFAN SYNDROME TYPE 2

SOURCES: ORPHANET

SQUAMOUS CELL CARCINOMA OF THE ESOPHAGUS

Alternate names

SQUAMOUS CELL CARCINOMA OF THE ESOPHAGUS Is also known as escc, esophageal epidermoid carcinoma, esophageal squamous cell carcinoma

Description

Esophageal squamous cell carcinoma (ESCC) is a type of esophageal carcinoma (EC; see this term) that can affect any part of the esophagus, but is usually located in the upper or middle third.

Most common symptoms of SQUAMOUS CELL CARCINOMA OF THE ESOPHAGUS

Feeding difficulties in infancy
Cough
Nausea and vomiting
Lymphadenopathy
Chest pain

More info about SQUAMOUS CELL CARCINOMA OF THE ESOPHAGUS

SOURCES: ORPHANET

Search interest in TGFBR2

Potential gene panels for TGFBR2 gene

NGS Aortic Dysfunction or Dilation and Related Disorders Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Aortic Dysfunction or Dilation and Related Disorders Panel that also includes the following genes: SKI TGFB2 TGFBR1 TGFBR2 ACTA2 SLC2A10 CBS COL3A1 COL5A1 COL5A2

TGFBR2 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to TGFBR2 gene

Other less frequent symptoms and clinical features

Not very common - Between 30% and 50% cases

Rare diseases associated to TGFBR2 gene

MARFAN SYNDROME TYPE 1

Alternate names

Most common symptoms of MARFAN SYNDROME TYPE 1

LOEYS-DIETZ SYNDROME

Alternate names

Description

Most common symptoms of LOEYS-DIETZ SYNDROME

LYNCH SYNDROME

Alternate names

Most common symptoms of LYNCH SYNDROME

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6; HNPCC6

Alternate names

Most common symptoms of COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6; HNPCC6

GASTROINTESTINAL STROMAL TUMOR

Alternate names

Description

Most common symptoms of GASTROINTESTINAL STROMAL TUMOR

FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION

Alternate names

Description

Most common symptoms of FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION

ESOPHAGEAL CANCER

Description

Most common symptoms of ESOPHAGEAL CANCER

MARFAN SYNDROME TYPE 2

Alternate names

SQUAMOUS CELL CARCINOMA OF THE ESOPHAGUS

Alternate names

Description

Most common symptoms of SQUAMOUS CELL CARCINOMA OF THE ESOPHAGUS

Search interest in TGFBR2

Potential gene panels for TGFBR2 gene

NGS Aortic Dysfunction or Dilation and Related Disorders Panel Panel

NGS Connective Tissue Disorders Panel Panel

Loeys-Dietz syndrome type 2B Panel

Thoracic Aortic Aneurysms and Aortic Dissections (TGFBR1/2) Panel

Loeys-Dietz Syndrome (TGFßR1, TGFßR2, SMAD3, and TGFß2) Panel

Familial Aortic Aneurysms Panel

Connective Tissue Disorders 22-gene panel Panel

Marfan Syndrome Type 2 Panel

Loeys-Dietz Syndrome Panel

Loeys-Dietz syndrome - full panel Panel

Thoracic aortic aneurysms and aortic dissection - full panel Panel

Loeys-Dietz syndrome - familial variant analysis Panel

Thoracic aortic aneurysms and aortic dissection - familial variant analysis Panel

Familial Aneurysm Panel Panel

Marfan Syndrome and Loeys-Dietz Syndrome Panel Panel

Marfan Syndrome, Type 2 - TGFBR2 Gene Panel

Cardiomyopathy Panel Panel

Connective Tissue Disorders Panel Panel

Craniosynostosis Panel

Familial Aneurysm and Aortopathy Panel

Marfan Syndrome and Related Disorders Deletion/Duplication Panel Panel

Marfan Syndrome and MFS Related Disorders Panel Panel

Thoracic Aortic Aneurysm Panel Panel

TGFBR2 Sequencing Panel

Craniofacial Sequencing Panel Panel

Craniofacial Deletion/Duplication Panel Panel

TGFBR2 Panel

Loeys-Dietz Syndrome (TGFBR1 and TGFBR2) Sequencing Panel

Aortopathy Panel, Sequencing and Deletion/Duplication Panel

Marfan/TAAD Sequencing Panel Panel

Marfan Syndrome/TAAD Del/Dup Panel Panel

Marfan/TAAD Sequencing & Del/Dup Panel Panel

Connective Tissue Disorders Panel Panel

Craniosynostosis Panel

COL3A1 gene sequence and deletion/duplication reflex TAADNext Panel

CustomNext: Cardio Panel

TAADNext Panel

FBN1 gene sequence and deletion/duplication reflex TAADNext Panel

Loeys Dietz syndrome Panel

TGFBR1, TGFBR2, FBN1, ACTA2, FBN2, ELN, TGFBR3. NextGeneDx.Complete sequencing by NGS Panel

FBN1, TGFBR2. NextGeneDx.Complete sequencing by NGS Panel

TGFBR1, TGFBR2. MLPA testing Panel

FBN1, TGFBR1, TGFBR2. NextGeneDx.Complete sequencing by NGS Panel