SMAD6 gene related symptoms and diseases

All the information presented here about the SMAD6 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to SMAD6 gene

Symptoms // Phenotype % Cases
Hypertension Common - Between 50% and 80% cases
Aortic valve stenosis Common - Between 50% and 80% cases
Heart murmur Common - Between 50% and 80% cases
Bicuspid aortic valve Common - Between 50% and 80% cases
Coarctation of aorta Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with SMAD6 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Bicuspid pulmonary valve
  • Abnormality of the left ventricular outflow tract
  • Mitral atresia
  • Thoracic aortic aneurysm
  • Thoracic aorta calcification
  • Cystic medial necrosis
  • Calcification of the aorta
  • Hypoplastic aortic arch

And 19 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to SMAD6 gene

Here you will find a list of rare diseases related to the SMAD6. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


FAMILIAL BICUSPID AORTIC VALVE


Alternate names

FAMILIAL BICUSPID AORTIC VALVE Is also known as aortic valve, calcification of, aortic stenosis, calcific, aortic valve, bicuspid, familial bav, bav, bicuspid aortic valve, aortic valve disease

Description

Familial bicuspid aortic valve is a rare, genetic, aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection).

Most common symptoms of FAMILIAL BICUSPID AORTIC VALVE

  • Hypertension
  • Fever
  • Ventricular septal defect
  • Cardiomyopathy
  • Atrial septal defect


More info about FAMILIAL BICUSPID AORTIC VALVE

SOURCES: ORPHANET OMIM

AORTIC VALVE DISEASE 2; AOVD2


Alternate names

AORTIC VALVE DISEASE 2; AOVD2 Is also known as bicuspid aortic valve, aortic valve stenosis

Most common symptoms of AORTIC VALVE DISEASE 2; AOVD2

  • Hypertension
  • Coarctation of aorta
  • Aortic valve stenosis
  • Bicuspid aortic valve
  • Heart murmur


More info about AORTIC VALVE DISEASE 2; AOVD2

SOURCES: OMIM

CRANIOSYNOSTOSIS 7; CRS7


Alternate names

CRANIOSYNOSTOSIS 7; CRS7 Is also known as crs7, digenic, craniosynostosis 7, digenic

Description

Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013).For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM ).

Most common symptoms of CRANIOSYNOSTOSIS 7; CRS7

  • Delayed speech and language development
  • Craniosynostosis


More info about CRANIOSYNOSTOSIS 7; CRS7

SOURCES: OMIM


Potential gene panels for SMAD6 gene

Connective Tissue Disorders Panel Panel

United States.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Connective Tissue Disorders Panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 TNXB C1R C1S

More info about this panel

Craniosynostosis Panel

United States.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Craniosynostosis that also includes the following genes: RUNX2 SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 CDC45

More info about this panel

Connective Tissue Seq Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Connective Tissue Seq Analysis that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS COL1A2

More info about this panel

Connective Tissue Seq + Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Connective Tissue Seq + Del/Dup Panel that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 COL1A2 COL3A1

More info about this panel

Connective Tissue Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Connective Tissue Del/Dup Panel that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 COL1A2 COL3A1

More info about this panel

Aortic valve disease 2 (sequence analysis of SMAD6 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the SMAD6 gene.

More info about this panel

Heart Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Heart Diseases - panels that also includes the following genes: RIT1 RRAS RYR2 SCN4B SCN5A SCO2 SDHA BMPR2 SGCA SGCB

More info about this panel

Aortic valve disease type 2 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the SMAD6 gene.

More info about this panel

Congenital Heart Defects Panel Panel

Germany.

By CeGaT GmbH Congenital Heart Defects Panel that also includes the following genes: SEMA3E TBX1 TBX20 TBX3 TBX5 TFAP2B TLL1 ZIC3 ACTC1 CRELD1

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

Congenital heart diseases Panel Panel

Spain.

By Health in Code Congenital heart diseases Panel that also includes the following genes: BRAF SOS1 TBX1 TBX20 TBX5 TFAP2B TNNI3 MED12 ZIC3 ACTA2

More info about this panel

Invitae Congenital Heart Disease Panel Panel

United States.

By Invitae Invitae Congenital Heart Disease Panel that also includes the following genes: RIT1 BRAF SOS1 TBX1 TBX5 ZIC3 NSD1 ACTC1 CRELD1 CBL

More info about this panel

SMAD6 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SMAD6 gene.

More info about this panel

Marfan Syndrome Panel Panel

Finland.

By Blueprint Genetics Marfan Syndrome Panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ADAMTS10 SLC2A10 CBS

More info about this panel

Aorta Panel Panel

Finland.

By Blueprint Genetics Aorta Panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 ADAMTS10 SLC2A10 CBS

More info about this panel

Familial Thoracic Aortic Aneurysm NGS and Deletion/Duplication Panel Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Familial Thoracic Aortic Aneurysm NGS and Deletion/Duplication Panel that also includes the following genes: SKI TGFB2 TGFBR1 TGFBR2 ACTA2 FBN1 SMAD3 SMAD6 MYH11 MYLK

More info about this panel

SMAD6 Gene Sequencing and Deletion/Duplication Analysis Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children

This panel specifically test the SMAD6 gene.

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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