TGFB1 gene related symptoms and diseases

All the information presented here about the TGFB1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to TGFB1 gene

Symptoms // Phenotype % Cases
Flexion contracture Common - Between 50% and 80% cases
Pain Common - Between 50% and 80% cases
Respiratory tract infection Common - Between 50% and 80% cases
Delayed puberty Uncommon - Between 30% and 50% cases
Proximal muscle weakness Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with TGFB1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Respiratory failure
  • Hyperactivity
  • Recurrent respiratory infections
  • Narrow mouth
  • Hyperlordosis
  • Waddling gait
  • Scarring
  • Dilatation

And 263 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to TGFB1 gene

Here you will find a list of rare diseases related to the TGFB1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


DUCHENNE MUSCULAR DYSTROPHY


Alternate names

DUCHENNE MUSCULAR DYSTROPHY Is also known as dmd, duchenne muscular dystrophy, severe dystrophinopathy, duchenne type, muscular dystrophy, pseudohypertrophic progressive, duchenne type

Description

Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle.

Most common symptoms of DUCHENNE MUSCULAR DYSTROPHY

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


More info about DUCHENNE MUSCULAR DYSTROPHY

SOURCES: OMIM MESH ORPHANET

CAMURATI-ENGELMANN DISEASE


Alternate names

CAMURATI-ENGELMANN DISEASE Is also known as diaphyseal dysplasia 1, progressive, engelmann disease, progressive diaphyseal dysplasia, dpd1, ced, pdd

Description

Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability.

Most common symptoms of CAMURATI-ENGELMANN DISEASE

  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Muscle weakness
  • Abnormal facial shape


More info about CAMURATI-ENGELMANN DISEASE

SOURCES: OMIM ORPHANET

ORAL SUBMUCOUS FIBROSIS


Alternate names

ORAL SUBMUCOUS FIBROSIS Is also known as osmf

Description

Oral submucous fibrosis (OSMF) is a chronic, progressive disease that alters the fibroelasticity of the oral submucosa, prevalent in India and Southeast Asia but rare elsewhere, and characterized by burning and pain in the oral cavity, loss of gustatory sensation, the presence of blanched fibrous bands and stiffening of the oral mucosa and oro-pharynx (leading to trismus and a progressive reduction in mouth opening) and an increased risk of developing oral squamous cell cancer (3-19%). It is usually associated with the chewing of the areca nut (an ingredient in betel quid) but the exact etiology is unknown and there is currently no effective treatment.

Most common symptoms of ORAL SUBMUCOUS FIBROSIS

  • Flexion contracture
  • Narrow mouth
  • Trismus
  • Cheilitis
  • Abnormality of the pharynx


More info about ORAL SUBMUCOUS FIBROSIS

SOURCES: MESH ORPHANET

ACROMICRIC DYSPLASIA


Description

Acromicric dysplasia is a rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands.

Most common symptoms of ACROMICRIC DYSPLASIA

  • Short stature
  • Growth delay
  • Abnormal facial shape
  • Brachydactyly
  • Anteverted nares


More info about ACROMICRIC DYSPLASIA

SOURCES: OMIM ORPHANET MESH

CYSTIC FIBROSIS


Alternate names

CYSTIC FIBROSIS Is also known as mucoviscidosis, cf

Description

Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity.

Most common symptoms of CYSTIC FIBROSIS

  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Pain
  • Hypertension


More info about CYSTIC FIBROSIS

SOURCES: ORPHANET OMIM


Potential gene panels for TGFB1 gene

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

More info about this panel

TGFB1 Sequence Analysis (Prenatal Diagnosis) Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the TGFB1 gene.

More info about this panel

TGFB1 Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the TGFB1 gene.

More info about this panel

TGFB1 Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the TGFB1 gene.

More info about this panel

TGFB1 Comprehensive - Sequence & Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the TGFB1 gene.

More info about this panel

Camurati-Engelmann disease (sequence analysis TGFB1 of gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the TGFB1 gene.

More info about this panel

Camurati-Engelmann Disease (CED) via TGFB1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the TGFB1 gene.

More info about this panel

Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection that also includes the following genes: RMRP ROR2 RUNX2 SALL1 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 FBXW4

More info about this panel

Dense bone dysplasia NGS panel Panel

United States.

By Connective Tissue Gene Tests Dense bone dysplasia NGS panel that also includes the following genes: SLCO2A1 TBXAS1 TGFB1 TNFRSF11B TYROBP SOST ANKH DLX3 GJA1 HPGD

More info about this panel

Dense bone dysplasia Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Dense bone dysplasia Comprehensive panel that also includes the following genes: SLCO2A1 TBXAS1 TGFB1 TNFRSF11B TYROBP SOST ANKH DLX3 GJA1 HPGD

More info about this panel

Dense bone dysplasia Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Dense bone dysplasia Deletion / Duplication panel that also includes the following genes: SLCO2A1 TBXAS1 TGFB1 TNFRSF11B TYROBP SOST ANKH DLX3 GJA1 HPGD

More info about this panel

Osteopetrosis and Dense bone dysplasia Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Osteopetrosis and Dense bone dysplasia Deletion / Duplication panel that also includes the following genes: SLCO2A1 TBXAS1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 TYROBP CA2 SOST

More info about this panel

Osteopetrosis and Dense bone dysplasia NGS panel Panel

United States.

By Connective Tissue Gene Tests Osteopetrosis and Dense bone dysplasia NGS panel that also includes the following genes: SLCO2A1 TBXAS1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 TYROBP CA2 SOST

More info about this panel

Osteopetrosis and Dense bone dysplasia Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Osteopetrosis and Dense bone dysplasia Comprehensive panel that also includes the following genes: SLCO2A1 TBXAS1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 TYROBP CA2 SOST

More info about this panel

Camurati-Engelmann disease NGS test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the TGFB1 gene.

More info about this panel

Camurati-Engelmann disease Comprehensive test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the TGFB1 gene.

More info about this panel

Camurati-Engelmann disease Deletion / Duplication test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the TGFB1 gene.

More info about this panel

Camurati-Engelmann disease Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the TGFB1 gene.

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

Corneal dystrophy, epithelial basement membrane Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the TGFB1 gene.

More info about this panel

Skeletal dysplasia with increased bone density Panel Panel

Germany.

By CeGaT GmbH Skeletal dysplasia with increased bone density Panel that also includes the following genes: SLCO2A1 TBXAS1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 CA2 SOST SNX10

More info about this panel

Camurati-Engelmann Disease, TGFB1 Panel

Israel.

By GGA - Galil Genetic Analysis

This panel specifically test the TGFB1 gene.

More info about this panel

Camurati-Engelmann disease: TGFB1 gene (exon 4) screening Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the TGFB1 gene.

More info about this panel

Skeletal Dysplasia With Increased Bone Density: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Skeletal Dysplasia With Increased Bone Density: Sequencing Panel that also includes the following genes: TBXAS1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 TYROBP CA2 SOST ANKH

More info about this panel

Skeletal Dysplasia: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Skeletal Dysplasia: Sequencing Panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SHOX SLC25A12 SLC26A2

More info about this panel

Skeletal Dysplasias NGS panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Skeletal Dysplasias NGS panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SLC25A12 SLC26A2 SMARCAL1

More info about this panel

TGFB1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the TGFB1 gene.

More info about this panel

Osteopetrosis and Dense Bone Dysplasia Panel Panel

Finland.

By Blueprint Genetics Osteopetrosis and Dense Bone Dysplasia Panel that also includes the following genes: SLCO2A1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 TYROBP CA2 SOST SNX10

More info about this panel

Skeletal Dysplasias Core Panel Panel

Finland.

By Blueprint Genetics Skeletal Dysplasias Core Panel that also includes the following genes: RMRP ROR2 RUNX2 BMP1 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TCIRG1

More info about this panel

Comprehensive Skeletal Dysplasias and Disorders Panel Panel

Finland.

By Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders Panel that also includes the following genes: RMRP ROR2 BGN RUNX2 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 SHOX

More info about this panel

Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel

Finland.

By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D

More info about this panel

Exome Panel

Brazil.

By DNA CONSULT GENETICA E BIOTECNOLOGIA LTDA. Exome that also includes the following genes: RPL10 ATXN1 ATXN2 ATXN8OS SEMA3E GEMIN2 BRAF BRCA1 BRCA2 SOX9

More info about this panel

Collagenopathies Panel

Italy.

By Cardiovascular Genetics PO San Francesco-NUORO (IT) Collagenopathies that also includes the following genes: TGFB1 TGFBR1 TGFBR2 COL5A1 ELN FBN1 SMAD3

More info about this panel

Immune Report Card Panel

United States.

By OmniSeq, Inc. Immune Report Card that also includes the following genes: CXCL10 STAT1 TBX21 TGFB1 TNF TNFRSF14 TNFRSF18 CD40 CD27 TNFRSF9

More info about this panel

CAMURATI-ENGELMANN SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the TGFB1 gene.

More info about this panel

Camurati-Engelmann Disease , Sequencing Selected Exons TGFB1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the TGFB1 gene.

More info about this panel

Common Variable Immune Deficiency and Related Disorders, Panel Massive Sequencing (NGS) 41 Genes Panel

Spain.

By Reference Laboratory Genetics Common Variable Immune Deficiency and Related Disorders, Panel Massive Sequencing (NGS) 41 Genes that also includes the following genes: CXCL12 SH2D1A BTK STAT1 STAT3 TGFB1 TNFRSF4 CD40 CD40LG AICDA

More info about this panel

Inflammatory Bowel Disease (IBD) and Related Disorders , Panel Massive Sequencing (NGS) 46 Genes Panel

Spain.

By Reference Laboratory Genetics Inflammatory Bowel Disease (IBD) and Related Disorders , Panel Massive Sequencing (NGS) 46 Genes that also includes the following genes: SH2D1A STXBP2 TERC TERT TGFB1 TINF2 CD40LG WAS WIPF1 CARD9

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


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