MYH11 gene related symptoms and diseases

All the information presented here about the MYH11 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

Top 5 symptoms and clinical features associated to MYH11 gene

Symptoms // Phenotype	% Cases
Left ventricular failure	Common - Between 50% and 80% cases
Aortic regurgitation	Common - Between 50% and 80% cases
Ascending aortic dissection	Common - Between 50% and 80% cases
Thoracic aortic aneurysm	Common - Between 50% and 80% cases
Aortic dissection	Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with MYH11 gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases
Aortic aneurysm
Bicuspid aortic valve
Coronary artery atherosclerosis
Stroke
Dilatation
Patent ductus arteriosus
Not very common - Between 30% and 50% cases
Carotid artery dilatation
Hypertension

And 63 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to MYH11 gene

Here you will find a list of rare diseases related to the MYH11. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

ACUTE MYELOID LEUKEMIA WITH ABNORMAL BONE MARROW EOSINOPHILS INV(16)(P13Q22) OR T(16;16)(P13;Q22)

Alternate names

ACUTE MYELOID LEUKEMIA WITH ABNORMAL BONE MARROW EOSINOPHILS INV(16)(P13Q22) OR T(16;16)(P13;Q22) Is also known as aml with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)

More info about ACUTE MYELOID LEUKEMIA WITH ABNORMAL BONE MARROW EOSINOPHILS INV(16)(P13Q22) OR T(16;16)(P13;Q22)

SOURCES: ORPHANET

FAMILIAL AORTIC DISSECTION

Alternate names

FAMILIAL AORTIC DISSECTION Is also known as aortic aneurysm, familial thoracic, annuloaortic ectasia, cystic medial necrosis of aorta, aortic dissection, familial, aneurysm, thoracic aortic, faa1

Description

Familial aortic dissection is the term used to describe rupture of the aortic wall at the level of the media, resulting in the formation of a false channel and deviation of part of the aortic flux. Familial predisposition to thoracic aortic aneurysms and type A dissections (concerning the ascending aorta and/or the aortic arch) has been demonstrated in around 19% of patients presenting with thoracic aortic dissections and several loci have been identified so far (16p12.2-p13.13, 3p24-25). This predisposition is transmitted in an autosomal dominant manner.

Most common symptoms of FAMILIAL AORTIC DISSECTION

Cataract
Flexion contracture
Hypertension
Dilatation
Pectus excavatum

More info about FAMILIAL AORTIC DISSECTION

SOURCES: ORPHANET OMIM

FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION

Alternate names

FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION Is also known as familial taad

Description

Familial thoracic aortic aneurysm and aortic dissection is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture.

Most common symptoms of FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION

Scoliosis
Hypertelorism
Hypertension
Dilatation
Patent ductus arteriosus

More info about FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION

SOURCES: ORPHANET

MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME

Alternate names

MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME Is also known as mmihs, megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome, berdon syndrome

Description

Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disease characterized by massive abdominal distension caused by a largely dilated non-obstructed urinary bladder (megacystis), microcolon and decreased or absent intestinal peristalsis.

Most common symptoms of MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME

Cryptorchidism
Abnormality of cardiovascular system morphology
Polyhydramnios
Umbilical hernia
Nausea and vomiting

More info about MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME

SOURCES: ORPHANET

AORTIC ANEURYSM, FAMILIAL THORACIC 4; AAT4

Alternate names

AORTIC ANEURYSM, FAMILIAL THORACIC 4; AAT4 Is also known as faa4, aortic aneurysm/aortic dissection and patent ductus arteriosus

Most common symptoms of AORTIC ANEURYSM, FAMILIAL THORACIC 4; AAT4

Congestive heart failure
Dilatation
Patent ductus arteriosus
Stroke
Aortic regurgitation

More info about AORTIC ANEURYSM, FAMILIAL THORACIC 4; AAT4

SOURCES: MESH OMIM

Search interest in MYH11

Potential gene panels for MYH11 gene

NGS Aortic Dysfunction or Dilation and Related Disorders Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Aortic Dysfunction or Dilation and Related Disorders Panel that also includes the following genes: SKI TGFB2 TGFBR1 TGFBR2 ACTA2 SLC2A10 CBS COL3A1 COL5A1 COL5A2

MYH11 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to MYH11 gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Not very common - Between 30% and 50% cases

Rare diseases associated to MYH11 gene

ACUTE MYELOID LEUKEMIA WITH ABNORMAL BONE MARROW EOSINOPHILS INV(16)(P13Q22) OR T(16;16)(P13;Q22)

Alternate names

FAMILIAL AORTIC DISSECTION

Alternate names

Description

Most common symptoms of FAMILIAL AORTIC DISSECTION

FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION

Alternate names

Description

Most common symptoms of FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION

MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME

Alternate names

Description

Most common symptoms of MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME

AORTIC ANEURYSM, FAMILIAL THORACIC 4; AAT4

Alternate names

Most common symptoms of AORTIC ANEURYSM, FAMILIAL THORACIC 4; AAT4

Search interest in MYH11

Potential gene panels for MYH11 gene

NGS Aortic Dysfunction or Dilation and Related Disorders Panel Panel

NGS Connective Tissue Disorders Panel Panel

FAMILIAL AORTIC ANEURYSMS (MYH11) Panel

Familial Aortic Aneurysms Panel

Connective Tissue Disorders 22-gene panel Panel

Thoracic aortic aneurysms and aortic dissection - full panel Panel

Thoracic aortic aneurysms and aortic dissection - familial variant analysis Panel

Familial Aneurysm Panel Panel

Cardiomyopathy Panel Panel

Connective Tissue Disorders Panel Panel

Familial Aneurysm and Aortopathy Panel

Thoracic Aortic Aneurysm Panel Panel

MYH11 Sequencing Panel

MYH11 Panel

Aortopathy Panel, Sequencing and Deletion/Duplication Panel

Marfan/TAAD Sequencing Panel Panel

Marfan Syndrome/TAAD Del/Dup Panel Panel

Marfan/TAAD Sequencing & Del/Dup Panel Panel

Connective Tissue Disorders Panel Panel

COL3A1 gene sequence and deletion/duplication reflex TAADNext Panel

CustomNext: Cardio Panel

TAADNext Panel

FBN1 gene sequence and deletion/duplication reflex TAADNext Panel

MYH11. Complete sequencing Panel

Connective Tissue Seq Analysis Panel

Connective Tissue Seq + Del/Dup Panel Panel

Connective Tissue Del/Dup Panel Panel

Familial aortic dissection type 4 (sequence analysis of MYH11 gene) Panel

Thoracic aortic aneurysm, familial form (NGS panel for 3 genes) Panel

Marfan and Loeys-Dietz syndromes and aortic aneurysm (NGS panel for 10 genes) Panel

RT-PCR t/inv(16)(CBFB/MYH11) Panel

CFBF/MYH11 quantification Panel

MYH11-Related Thoracic Aortic Aneurysms and Aortic Dissections Panel

Marfan Syndrome and Related Aortopathies Sequencing Panel with CNV Detection Panel

Comprehensive Cardiology Sequencing Panel with CNV Detection Panel

Thoracic Aortic Aneurysm and Dissection (TAAD) via MYH11 Gene Sequencing with CNV Detection Panel

Familial Thoracic Aortic Aneurysm and Dissection (TAAD) Sequencing Panel with CNV Detection Panel

Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders Comprehensive panel Panel

Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders Deletion / Duplication panel Panel

Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel Panel

Connective tissue disorder Deletion / Duplication panel Panel

Connective tissue disorder Comprehensive panel Panel

Connective tissue disorder NGS panel Panel

Thoracic aortic diseases Panel

Marfan syndrome, EDS and other connective tissue disorders - different panels Panel

Vascular and connective tissue diseases - panels Panel

Thoracic Aortic Aneurysms and Aortic Dissections (TAAD) Panel

Cardiovascular disorders panel Panel

Congenital heart defects panel Panel

Aortic Aneurysm, familial thoracic Panel

Familial thoracic aortic aneurysm panel Panel

Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm Panel

Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm Panel

Single gene testing MYH11 Panel

Thoracic Aortic Aneurysms and Aortic Dissections Panel