SMAD9 gene related symptoms and diseases
All the information presented here about the SMAD9 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SMAD9 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Hypertension | Uncommon - Between 30% and 50% cases |
| Pulmonary arterial hypertension | Uncommon - Between 30% and 50% cases |
| Increased pulmonary vascular resistance | Uncommon - Between 30% and 50% cases |
Rare diseases associated to SMAD9 gene
Here you will find a list of rare diseases related to the SMAD9. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
PULMONARY HYPERTENSION, PRIMARY, 2; PPH2
Most common symptoms of PULMONARY HYPERTENSION, PRIMARY, 2; PPH2
- Hypertension
- Pulmonary arterial hypertension
- Increased pulmonary vascular resistance
More info about PULMONARY HYPERTENSION, PRIMARY, 2; PPH2
SOURCES: OMIM
HERITABLE PULMONARY ARTERIAL HYPERTENSION
Alternate names
HERITABLE PULMONARY ARTERIAL HYPERTENSION Is also known as hpah, hereditary pulmonary arterial hypertension, familial pulmonary arterial hypertension, fpah
Description
Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH, see this term), occurring due to mutations in PAH predisposing genes or in a familial context. HPAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. HPAH is progressive and potentially fatal.
More info about HERITABLE PULMONARY ARTERIAL HYPERTENSION
SOURCES: ORPHANET
Search interest in SMAD9
Potential gene panels for SMAD9 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.
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.
PulmoGene Panel (64 Genes) Panel
United States.
By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine PulmoGene Panel (64 Genes) that also includes the following genes: RPGR BDNF SCNN1A SCNN1B SCNN1G BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC
More info about this panel United States.
Pulmonary Hypertension Panel (5 Genes) Panel
United States.
By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine Pulmonary Hypertension Panel (5 Genes) that also includes the following genes: BMPR2 ACVRL1 ENG FOXF1 SMAD9
More info about this panel United States.
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.
Pulmonary hypertension, primary, 2 (sequence analysis of SMAD9 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the SMAD9 gene.
More info about this panel Portugal.
Pulmonary hypertension, primary, 2 (sequence analysis of SMAD9 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the SMAD9 gene.
More info about this panel Portugal.
Pulmonary hypertension NGS panel Panel
United States.
By Connective Tissue Gene Tests Pulmonary hypertension NGS panel that also includes the following genes: BMPR1B BMPR2 CAV1 ACVRL1 EIF2AK4 ENG FOXF1 KCNK3 SMAD9
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.
Pulmonary hypertension Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Pulmonary hypertension Deletion / Duplication panel that also includes the following genes: BMPR1B BMPR2 CAV1 ACVRL1 EIF2AK4 ENG FOXF1 KCNK3 SMAD9
More info about this panel United States.
Pulmonary hypertension Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Pulmonary hypertension Comprehensive panel that also includes the following genes: BMPR1B BMPR2 CAV1 ACVRL1 EIF2AK4 ENG FOXF1 KCNK3 SMAD9
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.
Pulmonary hypertension, primary, 2 Sequencing test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the SMAD9 gene.
More info about this panel United States.
Pulmonary hypertension, primary, 2 Comprehensive test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the SMAD9 gene.
More info about this panel United States.
Pulmonary hypertension, primary, 2 Deletion / Duplication test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the SMAD9 gene.
More info about this panel United States.
Pulmonary diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Pulmonary diseases - panels that also includes the following genes: BMPR1B BMPR2 TBX4 CAV1 CAV3 NME8 ACVRL1 SARS2 CCNO DNAI2
More info about this panel Germany.
Vascular and connective tissue diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Vascular and connective tissue diseases - panels that also includes the following genes: AIMP1 BMPR1B BMPR2 SKI TGFB2 TGFB3 TGFBR1 TGFBR2 TNXB TREX1
More info about this panel Germany.
Comprehensive pulmonary disease panel Panel
Germany.
By Centogene AG - the Rare Disease Company Comprehensive pulmonary disease panel that also includes the following genes: BDNF SCNN1A SCNN1B SCNN1G BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC SFTPD
More info about this panel Germany.
Pulmonary Arterial Hypertension Panel
Estonia.
By Asper Biogene Asper Biogene LLC Pulmonary Arterial Hypertension that also includes the following genes: BMPR1B BMPR2 CAV1 ACVRL1 ENG KCNK3 SMAD9
More info about this panel Estonia.
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.
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.
Heritable pulmonary arterial hypertension Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Heritable pulmonary arterial hypertension that also includes the following genes: BMPR1B BMPR2 CAV1 ACVRL1 KCNK3 SMAD9
More info about this panel Spain.
SMAD9 - Gene Sequencing & Del/Dup analysis Panel
Netherlands.
By Genome Diagnostics VU University Medical Center
This panel specifically test the SMAD9 gene.
More info about this panel Netherlands.
Pulmonary hypertension - PPH1 Panel
Netherlands.
By Genome Diagnostics VU University Medical Center Pulmonary hypertension - PPH1 that also includes the following genes: BMPR2 SMAD9
More info about this panel Netherlands.
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.
Pulmonary Disease: Comprehensive Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pulmonary Disease: Comprehensive Sequencing Panel that also includes the following genes: BDNF SCNN1A SCNN1B SCNN1G BMPR2 SFTPB SFTPC SFTPD STAT3 TERT
More info about this panel United States.
Lung Disorders NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Lung Disorders NGS Panel that also includes the following genes: BDNF SCNN1A SCNN1B SCNN1G BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC TERC
More info about this panel United States.
Pulmonary Hypertension NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Pulmonary Hypertension NGS Panel that also includes the following genes: BMPR2 CAV1 ACVRL1 ENG SMAD9
More info about this panel United States.
SMAD9 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SMAD9 gene.
More info about this panel United States.
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.
Heritable Pulmonary Arterial Hypertension Type 2, Sequencing SMAD9 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the SMAD9 gene.
More info about this panel Spain.
Heritable Pulmonary Arterial Hypertension, Panel Massive Sequencing (NGS) 5 Genes Panel
Spain.
By Reference Laboratory Genetics Heritable Pulmonary Arterial Hypertension, Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: BMPR2 CAV1 ACVRL1 ENG SMAD9
More info about this panel Spain.
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 United States.
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