TGFB3 gene related symptoms and diseases

All the information presented here about the TGFB3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,OMIM,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 TGFB3 gene

Symptoms // Phenotype	% Cases
Dilatation	Uncommon - Between 30% and 50% cases
Tall stature	Uncommon - Between 30% and 50% cases
Arachnodactyly	Uncommon - Between 30% and 50% cases
Abnormality of the sternum	Uncommon - Between 30% and 50% cases
Aortic root aneurysm	Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with TGFB3 gene alterations may also develop some of the following symptoms and phenotypes:

Not very common - Between 30% and 50% cases
Inguinal hernia
Aortic dissection
Coronary artery atherosclerosis
Pes planus
Retrognathia
Ascending aortic dissection
Atrioventricular block
Aortic regurgitation

And 119 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to TGFB3 gene

Here you will find a list of rare diseases related to the TGFB3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

LOEYS-DIETZ SYNDROME 5; LDS5

Alternate names

LOEYS-DIETZ SYNDROME 5; LDS5 Is also known as rienhoff syndrome, rnhf

Description

Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS (see {609192}), no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection (summary by Bertoli-Avella et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of Loeys-Dietz syndrome, see LDS1 (OMIM ).

Most common symptoms of LOEYS-DIETZ SYNDROME 5; LDS5

Short stature
Generalized hypotonia
Scoliosis
Growth delay
Hypertelorism

More info about LOEYS-DIETZ SYNDROME 5; LDS5

SOURCES: OMIM

ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1; ARVD1

Alternate names

ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1; ARVD1 Is also known as arvc1, arrhythmogenic right ventricular cardiomyopathy 1

Description

Arrhythmogenic right ventricular dysplasia (ARVD) is a clinical and pathologic entity for which the diagnosis rests on electrocardiographic and angiographic criteria; pathologic findings, replacement of ventricular myocardium with fatty and fibrous elements, preferentially involve the right ventricular free wall. It is inherited in an autosomal dominant manner with reduced penetrance and is one of the major genetic causes of juvenile sudden death. When the dysplasia is extensive, it may represent the Uhl anomaly ('parchment right ventricle'). The presenting finding is usually recurrent, sustained ventricular tachycardia with left bundle branch block configuration. Basso et al. (2009) provided a detailed review of ARVD, including diagnosis, pathogenesis, treatment options, and genetics. Genetic Heterogeneity of Familial Arrhythmogenic Right Ventricular DysplasiaOther forms of ARVD include ARVD2 (OMIM ), caused by mutation in the RYR2 gene (OMIM ) on chromosome 1q42-q43; ARVD3 (OMIM ), on chromosome 14q12-q22; ARVD4 (OMIM ), on chromosome 2q32.1-q32.3; ARVD5 (OMIM ), caused by mutation in the TMEM43 gene (OMIM ) on chromosome 3p23; ARVD6 (OMIM ), on chromosome 10p14-p12; ARVD8 (OMIM ), caused by mutation in the DSP gene (OMIM ) on chromosome 6p24; ARVD9 (OMIM ), caused by mutation in the PKP2 gene (OMIM ) on chromosome 12p11; ARVD10 (OMIM ), caused by mutation in the DSG2 (OMIM ) on chromosome 18q12.1; ARVD11 (OMIM ), caused by mutation in the DSC2 gene (OMIM ) on chromosome 18q12.1; ARVD12 (OMIM ), caused by mutation in the JUP gene (OMIM ) on chromosome 17q21; and ARVD13 (OMIM ), caused by mutation in the CTNNA3 gene (OMIM ) on chromosome 10q21.ARVD7 is a former designation for a form of myopathy and ARVD mapped to chromosome 10q22, which was later found to be a form of myofibrillar myopathy (MFM1 ) caused by mutation in the DES gene (OMIM ) on chromosome 2q35.Christensen et al. (2010) screened 65 ARVD probands for mutations in 5 desmosomal genes as well as the TGFB3 gene (OMIM ), and identified 19 different mutations in the desmosomal genes in 12 of the families, including 7 with more than 1 mutation. In 6 families, digenic mutation carriers were identified, with at least 1 of the mutations being absent in the control population. The authors stated that their findings partially supported a gene dosage effect, although phenotypic variation was large.Nitoiu et al. (2014) reviewed desmosome biology in cardiocutaneous syndromes and inherited skin disease, including discussion of the involvement of the DSP, PKP2, DSG2, DSC2, and JUP genes.

Most common symptoms of ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1; ARVD1

Fever
Cardiomyopathy
Edema
Myopathy
Congestive heart failure

More info about ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1; ARVD1

SOURCES: ORPHANET OMIM

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

FAMILIAL ISOLATED ARRHYTHMOGENIC VENTRICULAR DYSPLASIA, LEFT DOMINANT FORM

Alternate names

FAMILIAL ISOLATED ARRHYTHMOGENIC VENTRICULAR DYSPLASIA, LEFT DOMINANT FORM Is also known as familial isolated arrhythmogenic ventricular cardiomyopathy, left dominant form

More info about FAMILIAL ISOLATED ARRHYTHMOGENIC VENTRICULAR DYSPLASIA, LEFT DOMINANT FORM

SOURCES: ORPHANET

FAMILIAL ISOLATED ARRHYTHMOGENIC VENTRICULAR DYSPLASIA, BIVENTRICULAR FORM

Alternate names

FAMILIAL ISOLATED ARRHYTHMOGENIC VENTRICULAR DYSPLASIA, BIVENTRICULAR FORM Is also known as familial isolated arrhythmogenic ventricular cardiomyopathy, biventricular form

More info about FAMILIAL ISOLATED ARRHYTHMOGENIC VENTRICULAR DYSPLASIA, BIVENTRICULAR FORM

SOURCES: ORPHANET

FAMILIAL ISOLATED ARRHYTHMOGENIC VENTRICULAR DYSPLASIA, RIGHT DOMINANT FORM

Alternate names

FAMILIAL ISOLATED ARRHYTHMOGENIC VENTRICULAR DYSPLASIA, RIGHT DOMINANT FORM Is also known as familial isolated arrhythmogenic ventricular cardiomyopathy, right dominant form, familial isolated arrhythmogenic ventricular dysplasia, classic form, familial isolated arrhythmogenic ventricular cardiomyopathy, classic form

More info about FAMILIAL ISOLATED ARRHYTHMOGENIC VENTRICULAR DYSPLASIA, RIGHT DOMINANT FORM

SOURCES: ORPHANET

Search interest in TGFB3

Potential gene panels for TGFB3 gene

Comprehensive Cardiac Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Comprehensive Cardiac Panel that also includes the following genes: RIT1 RYR2 SCN1B SCN2B SCN4B SCN5A SGCD SLC22A5 BRAF SNTA1

TGFB3 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to TGFB3 gene

Other less frequent symptoms and clinical features

Not very common - Between 30% and 50% cases

Rare diseases associated to TGFB3 gene

LOEYS-DIETZ SYNDROME 5; LDS5

Alternate names

Description

Most common symptoms of LOEYS-DIETZ SYNDROME 5; LDS5

ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1; ARVD1

Alternate names

Description

Most common symptoms of ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1; ARVD1

FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION

Alternate names

Description

Most common symptoms of FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION

FAMILIAL ISOLATED ARRHYTHMOGENIC VENTRICULAR DYSPLASIA, LEFT DOMINANT FORM

Alternate names

FAMILIAL ISOLATED ARRHYTHMOGENIC VENTRICULAR DYSPLASIA, BIVENTRICULAR FORM

Alternate names

FAMILIAL ISOLATED ARRHYTHMOGENIC VENTRICULAR DYSPLASIA, RIGHT DOMINANT FORM

Alternate names

Search interest in TGFB3

Potential gene panels for TGFB3 gene

Comprehensive Cardiac Panel Panel

Loeys-Dietz Syndrome Type 5 (TGFB3) Panel

Loeys-Dietz syndrome - full panel Panel

Loeys-Dietz syndrome - familial variant analysis Panel

Familial Aneurysm Panel Panel

Marfan Syndrome and Loeys-Dietz Syndrome Panel Panel

Cardiomyopathy Panel Panel

Arrhythmogenic Right Ventricular Cardiomyopathy Panel

Connective Tissue Disorders Panel Panel

Familial Aneurysm and Aortopathy Panel

Arrhymogenic Right Ventricular Cardiomyopathy Panel Panel

TGFB3 Panel

Cardiomyopathy and Arrhythmia Panel, Sequencing and Deletion/Duplication Panel

Connective Tissue Disorders Panel Panel

ARVCNext Panel

CardioNext with TTN Panel

CMNext with TTN Panel

COL3A1 gene sequence and deletion/duplication reflex TAADNext Panel

CustomNext: Cardio Panel

RhythmNext Panel

RhythmFirst reflex RhythmNext Panel

TAADNext Panel

FBN1 gene sequence and deletion/duplication reflex TAADNext Panel

DSC2, DSG2, DSP, JUP, PKP2, RYR2 (30 exones), TGFB3. NextGeneDx.Complete sequencing by NGS Panel

PKP2, DSP, DSG2, DSC2, JUP, TGFB3, RYR2. (30 exones) NextGeneDx.Complete Sequencing by NGS Panel

Connective Tissue Seq Analysis Panel

Connective Tissue Seq + Del/Dup Panel Panel

Connective Tissue Del/Dup Panel Panel

Arrhythmogenic right ventricular dysplasia 1 (sequence analysis of TGFB3 gene) Panel

Arrhythmogenic right ventricular dysplasia - dominat (ARVD, deletion/duplication analysis of PKP2, DSP, JUP, DSC2, DSG2, TGFB3, RYR2 genes) Panel

Arrhythmogenic right ventricular dysplasia - dominat (ARVD, deletion/duplication analysis of PKP2, DSP, JUP, DSC2, DSG2, TGFB3, RYR2 genes) Panel

ARVD1 Panel

Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia Sequencing Panel with CNV Detection Panel

Marfan Syndrome and Related Aortopathies Sequencing Panel with CNV Detection Panel

Loeys-Dietz Syndrome Sequencing Panel with CNV Detection Panel

Comprehensive Cardiology Sequencing Panel with CNV Detection Panel

Pan Cardiomyopathy Sequencing Panel with CNV Detection Panel

Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia and Loeys-Dietz Syndrome via TGFB3 Gene Sequencing with CNV Detection Panel

Familial Thoracic Aortic Aneurysm and Dissection (TAAD) Sequencing Panel with CNV Detection Panel

Comprehensive Cardiac Arrhythmia Sequencing Panel with CNV Detection Panel

Loeys-Dietz syndrome NGS panel Panel

Loeys-Dietz syndrome Comprehensive panel Panel

Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders Comprehensive panel Panel

Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders Deletion / Duplication panel Panel

Loeys-Dietz syndrome Deletion / Duplication panel Panel

Marfan syndrome and Loeys-Dietz syndrome Comprehensive panel Panel

Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel Panel

Marfan syndrome and Loeys-Dietz syndrome Deletion / Duplication panel Panel

Marfan syndrome and Loeys-Dietz syndrome NGS panel Panel

Loeys-Dietz Syndrome 5 Comprehensive test Panel

Loeys-Dietz Syndrome 5 Deletion / Duplication test Panel

Loeys-Dietz Syndrome 5 Sequencing test Panel

Connective tissue disorder Deletion / Duplication panel Panel

Connective tissue disorder Comprehensive panel Panel

Connective tissue disorder NGS panel Panel