GDF2 gene related symptoms and diseases

All the information presented here about the GDF2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to GDF2 gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Pulmonary embolism Very Common - Between 80% and 100% cases
Mucosal telangiectasiae Very Common - Between 80% and 100% cases
Peripheral arteriovenous fistula Very Common - Between 80% and 100% cases
Abnormality of cardiovascular system physiology Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with GDF2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Spontaneous hematomas
  • Cholecystitis
  • Conjunctival telangiectasia
  • Cavernous hemangioma
  • Visceral angiomatosis
  • Intestinal polyposis
  • Esophageal varix
  • Abnormality of the cerebral vasculature

And 21 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to GDF2 gene

Here you will find a list of rare diseases related to the GDF2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


HEREDITARY HEMORRHAGIC TELANGIECTASIA


Alternate names

HEREDITARY HEMORRHAGIC TELANGIECTASIA Is also known as hht, rendu-osler disease, rendu-osler-weber disease

Description

Rendu-Osler-Weber disease, also called hereditary hemorrhagic telangiectasia (HHT), is a disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting.

Most common symptoms of HEREDITARY HEMORRHAGIC TELANGIECTASIA

  • Seizures
  • Congestive heart failure
  • Cirrhosis
  • Hepatic failure
  • Hematuria


More info about HEREDITARY HEMORRHAGIC TELANGIECTASIA

SOURCES: ORPHANET


Potential gene panels for GDF2 gene

Comprehensive Pulmonary Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Comprehensive Pulmonary Panel that also includes the following genes: RPGR SCNN1A SCNN1B SCNN1G BMPR1B BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC

More info about this panel

Arterial Hypertension Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Arterial Hypertension Panel that also includes the following genes: BMPR1B BMPR2 CAV1 ACVRL1 ABCA3 ENG GDF2 KCNA5 KCNK3 SMAD4

More info about this panel

NGS Vascular Disorders Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Vascular Disorders Panel that also includes the following genes: SOX18 TEK VEGFC GLMN KRIT1 STAMBP GJC2 ACVRL1 CCM2 CCBE1

More info about this panel

Pulmonary Arterial Hypertension Panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Pulmonary Arterial Hypertension Panel that also includes the following genes: BMPR2 CAV1 ACVRL1 ABCA3 ENG GDF2 KCNA5 KCNK3 SMAD4 SMAD9

More info about this panel

Hereditary Hemorrhagic Telangiectasia Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Hereditary Hemorrhagic Telangiectasia Deletion/Duplication Panel that also includes the following genes: ACVRL1 ENG GDF2 SMAD4 RASA1

More info about this panel

Hereditary Hemorrhagic Telangiectasia (HHT) Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Hereditary Hemorrhagic Telangiectasia (HHT) Sequencing Panel that also includes the following genes: ACVRL1 ENG GDF2 SMAD4 RASA1

More info about this panel

Telangiectasia Syndrome (BMP9/GDF2) Sequencing Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics

This panel specifically test the GDF2 gene.

More info about this panel

Hereditary Hemorrhagic Telangiectasia (HHT) Panel, Sequencing and Deletion/Duplication Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Hereditary Hemorrhagic Telangiectasia (HHT) Panel, Sequencing and Deletion/Duplication that also includes the following genes: ACVRL1 ENG GDF2 SMAD4 RASA1

More info about this panel

Vascular Malformations Panel, Sequencing and Deletion/Duplication Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Vascular Malformations Panel, Sequencing and Deletion/Duplication that also includes the following genes: BMPR2 TEK GLMN CAV1 KRIT1 ACVRL1 CCM2 ENG GDF2 KCNK3

More info about this panel

HHTNext Panel

United States.

By Ambry Genetics HHTNext that also includes the following genes: ACVRL1 ENG GDF2 SMAD4 RASA1

More info about this panel

Vascular Malformations NGS Multi-Gene Panel (21 Genes) Panel

Netherlands.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam Vascular Malformations NGS Multi-Gene Panel (21 Genes) that also includes the following genes: BMPR2 SOX18 TEK GLMN CAV1 KRIT1 ACVRL1 DOCK6 ANTXR1 CCM2

More info about this panel

Pulmonary Hypertension Seq + Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Pulmonary Hypertension Seq + Del/Dup Panel that also includes the following genes: BMPR1B BMPR2 CAV1 ACVRL1 EIF2AK4 ENG FOXF1 GDF2 KCNA5 KCNK3

More info about this panel

Pulmonary Hypertension Seq Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Pulmonary Hypertension Seq Analysis that also includes the following genes: BMPR1B BMPR2 CAV1 ACVRL1 EIF2AK4 ENG FOXF1 GDF2 KCNA5 KCNK3

More info about this panel

Pulmonary Hypertension Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Pulmonary Hypertension Del/Dup Panel that also includes the following genes: BMPR1B BMPR2 CAV1 ACVRL1 EIF2AK4 ENG FOXF1 GDF2 KCNA5 KCNK3

More info about this panel

Comprehensive Pulmonary-Vascular Seq Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Comprehensive Pulmonary-Vascular Seq Analysis that also includes the following genes: RPGR BMPR1B BMPR2 SFTPB SLC7A7 SPAG1 TERC TERT NKX2-1 RSPH1

More info about this panel

Comprehensive Pulmonary-Vascular Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Comprehensive Pulmonary-Vascular Del/Dup Panel that also includes the following genes: RPGR BMPR1B BMPR2 SFTPB SLC7A7 SPAG1 TERC TERT NKX2-1 RSPH1

More info about this panel

Comprehensive Pulmonary-Vascular Seq + Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Comprehensive Pulmonary-Vascular Seq + Del/Dup Panel that also includes the following genes: RPGR BMPR1B BMPR2 SFTPB SLC7A7 SPAG1 TERC TERT NKX2-1 RSPH1

More info about this panel

Hereditary hemorrhagic telangiectasia type 5 (sequence analysis of GDF2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the GDF2 gene.

More info about this panel

Hereditary hemorrhagic telangiectasia (NGS panel for 4 genes) Panel

Portugal.

By CGC Genetics Hereditary hemorrhagic telangiectasia (NGS panel for 4 genes) that also includes the following genes: ACVRL1 ENG GDF2 SMAD4

More info about this panel

Hereditary hemorrhagic telangiectasia (NGS panel for 4 genes) Panel

Portugal.

By CGC Genetics Hereditary hemorrhagic telangiectasia (NGS panel for 4 genes) that also includes the following genes: ACVRL1 ENG GDF2 SMAD4

More info about this panel

Hereditary Hemorrhagic telangiectasia Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Hereditary Hemorrhagic telangiectasia Comprehensive panel that also includes the following genes: ACVRL1 ENG GDF2 SMAD4 RASA1

More info about this panel

Hereditary Hemorrhagic telangiectasia Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Hereditary Hemorrhagic telangiectasia Deletion / Duplication panel that also includes the following genes: ACVRL1 ENG GDF2 SMAD4 RASA1

More info about this panel

Hereditary Hemorrhagic telangiectasia NGS panel Panel

United States.

By Connective Tissue Gene Tests Hereditary Hemorrhagic telangiectasia NGS panel that also includes the following genes: ACVRL1 ENG GDF2 SMAD4 RASA1

More info about this panel

Vascular malformations Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Vascular malformations Deletion / Duplication panel that also includes the following genes: BMPR2 TEK GLMN CAV1 KRIT1 ELMO2 ACVRL1 EIF2AK4 CCM2 ENG

More info about this panel

Vascular malformations NGS panel Panel

United States.

By Connective Tissue Gene Tests Vascular malformations NGS panel that also includes the following genes: BMPR2 TEK GLMN CAV1 KRIT1 ELMO2 ACVRL1 EIF2AK4 CCM2 ENG

More info about this panel

Vascular malformations Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Vascular malformations Comprehensive panel that also includes the following genes: BMPR2 TEK GLMN CAV1 KRIT1 ELMO2 ACVRL1 EIF2AK4 CCM2 ENG

More info about this panel

GDF2 Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the GDF2 gene.

More info about this panel

Telangiectasia hereditary hemorrhagic type 5 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the GDF2 gene.

More info about this panel

Hereditary hemorrhagic telangiectasia panel Panel

Germany.

By Centogene AG - the Rare Disease Company Hereditary hemorrhagic telangiectasia panel that also includes the following genes: ACVRL1 ADAM17 ENG GDF2 SMAD4 PTPN14 RASA1

More info about this panel

Vascular and lymphatic disorders Panel Panel

Germany.

By CeGaT GmbH Vascular and lymphatic disorders Panel that also includes the following genes: SOX18 TREX1 SERPING1 VEGFC KRIT1 GJC2 ACVRL1 CCM2 FAT4 CCBE1

More info about this panel

Hereditary Haemorrhagic Telangiectasia Panel Panel

Spain.

By Health in Code Hereditary Haemorrhagic Telangiectasia Panel that also includes the following genes: BMPR2 ACVRL1 ENG GDF2 SMAD1 SMAD4

More info about this panel

Inherited Cardiovascular Diseases and Sudden Death Panel Panel

Spain.

By Health in Code Inherited Cardiovascular Diseases and Sudden Death Panel that also includes the following genes: MRPL3 RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A BMPR1B BMPR2 SGCA

More info about this panel

Pulmonary Hypertension Panel Panel

Spain.

By Health in Code Pulmonary Hypertension Panel that also includes the following genes: BMPR1B BMPR2 CAV1 ACVRL1 ENG GDF2 KCNA5 KCNK3 SMAD1 SMAD4

More info about this panel

Cardiovascular Diseases_General Panel Panel

Spain.

By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B

More info about this panel

Hereditary hemorrhagic telangiectasia Panel Panel

Spain.

By Health in Code Hereditary hemorrhagic telangiectasia Panel that also includes the following genes: BMPR1A BMPR2 ACVRL1 BMP10 ENG GDF2 SMAD1 SMAD4 RASA1

More info about this panel

Pulmonary hypertension Panel Panel

Spain.

By Health in Code Pulmonary hypertension Panel that also includes the following genes: BMPR1B BMPR2 CAV1 TOPBP1 ACVRL1 EIF2AK4 ENG FOXF1 GDF2 KCNA5

More info about this panel

Rendu-Osler-Weber disease (ACVRL1, ENG, SMAD4, GDF2) Panel

Belgium.

By Center for Human Genetics Cliniques Universitaires Saint Luc Rendu-Osler-Weber disease (ACVRL1, ENG, SMAD4, GDF2) that also includes the following genes: ACVRL1 ENG GDF2 SMAD4

More info about this panel

Hereditary hemorrhagic telangiectasia Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Hereditary hemorrhagic telangiectasia that also includes the following genes: ACVRL1 ENG GDF2 SMAD4

More info about this panel

Pulmonary Arterial Hypertension: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pulmonary Arterial Hypertension: Sequencing Panel that also includes the following genes: BMPR2 CAV1 ACVRL1 ENG GDF2 SMAD4 SMAD9 RASA1

More info about this panel

Hereditary Hemorrhagic Telangiectasia: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Hemorrhagic Telangiectasia: Sequencing Panel that also includes the following genes: ACVRL1 ENG GDF2 SMAD4 RASA1

More info about this panel

Hereditary Hemorrhagic Telangiectasia: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Hemorrhagic Telangiectasia: Deletion/Duplication Panel that also includes the following genes: ACVRL1 ENG GDF2 SMAD4 RASA1

More info about this panel

GDF2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GDF2 gene.

More info about this panel

Hereditary hemorrhagic telangiectasia (HHT) Panel

United States.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center Hereditary hemorrhagic telangiectasia (HHT) that also includes the following genes: BMPR2 CAV1 KRIT1 ACVRL1 CCM2 ENG GDF2 SMAD4 RASA1

More info about this panel

HEREDITARY HEMORRHAGIC TELANGIECTASIA (RENDU-OSLER-WEBER SYNDROME) Panel

Spain.

By Laboratorio de Genetica Clinica SL HEREDITARY HEMORRHAGIC TELANGIECTASIA (RENDU-OSLER-WEBER SYNDROME) that also includes the following genes: ACVRL1 ENG GDF2 SMAD4

More info about this panel

PULMONARY HYPERTENSION, NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL PULMONARY HYPERTENSION, NGS PANEL that also includes the following genes: BMPR1B BMPR2 TBX4 CAV1 ACVRL1 EIF2AK4 ENG FOXF1 GDF2 KCNA5

More info about this panel

HEREDITARY HEMORRHAGIC TELANGIECTASIA (RENDU-OSLER-WEBER SYNDROME) SANGER PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL HEREDITARY HEMORRHAGIC TELANGIECTASIA (RENDU-OSLER-WEBER SYNDROME) SANGER PANEL that also includes the following genes: ACVRL1 ENG GDF2 SMAD4

More info about this panel

Hereditary Hemorrhagic Telangiectasia Type 5, Sequencing GDF2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the GDF2 gene.

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like CASTOR3 ARG1 CNKSR2 OGDH FCGR2C SERPINA1

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more