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.
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
Search interest in GDF2
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
HHTNext Panel
United States.
By Ambry Genetics HHTNext that also includes the following genes: ACVRL1 ENG GDF2 SMAD4 RASA1
More info about this panel United States.
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 Netherlands.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 Portugal.
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 Portugal.
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 Portugal.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
GDF2 Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the GDF2 gene.
More info about this panel Germany.
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 Germany.
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 Germany.
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 Germany.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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 Belgium.
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 Spain.
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 United States.
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 United States.
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 United States.
GDF2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GDF2 gene.
More info about this panel United States.
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 United States.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SLC6A5 F12 GRN PRKG1 KCNK18 SERPINA1