MYH7 gene related symptoms and diseases

All the information presented here about the MYH7 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, 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 MYH7 gene

Symptoms // Phenotype	% Cases
Myopathy	Common - Between 50% and 80% cases
Congestive heart failure	Common - Between 50% and 80% cases
Cardiomyopathy	Uncommon - Between 30% and 50% cases
Elevated serum creatine phosphokinase	Uncommon - Between 30% and 50% cases
Proximal muscle weakness	Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with MYH7 gene alterations may also develop some of the following symptoms and phenotypes:

Not very common - Between 30% and 50% cases
Muscle weakness
Arrhythmia
Scoliosis
Dilated cardiomyopathy
Atrial fibrillation
EMG: myopathic abnormalities
Rarely - Less than 30% cases
High palate
Mildly elevated creatine phosphokinase

And 196 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to MYH7 gene

Here you will find a list of rare diseases related to the MYH7. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

EBSTEIN MALFORMATION

Alternate names

EBSTEIN MALFORMATION Is also known as ebstein anomaly of the tricuspid valve

Description

Ebstein's malformation is a rare congenital cardiac anomaly characterized by rotational displacement of the septal and inferior leaflets of the tricuspid valve such that they are hinged within the right ventricle, rather than as expected at the atrioventricular junction.

Most common symptoms of EBSTEIN MALFORMATION

Fatigue
Ventricular septal defect
Respiratory insufficiency
Atrial septal defect
Congestive heart failure

More info about EBSTEIN MALFORMATION

SOURCES: MESH ORPHANET OMIM

LAING EARLY-ONSET DISTAL MYOPATHY

Alternate names

LAING EARLY-ONSET DISTAL MYOPATHY Is also known as distal myopathy type 1, mpd1, gowers disease, myopathy, distal, swedish, muscular dystrophy, distal, late-onset, autosomal dominant

Description

Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course.

Most common symptoms of LAING EARLY-ONSET DISTAL MYOPATHY

Muscle weakness
Myopathy
Proximal muscle weakness
Distal muscle weakness
Muscular dystrophy

More info about LAING EARLY-ONSET DISTAL MYOPATHY

SOURCES: ORPHANET OMIM

MYOPATHY, DISTAL, 1; MPD1

Alternate names

MYOPATHY, DISTAL, 1; MPD1 Is also known as myopathy, late distal hereditary, laing distal myopathy, myopathy, distal, early-onset, autosomal dominant

Most common symptoms of MYOPATHY, DISTAL, 1; MPD1

Scoliosis
Muscle weakness
High palate
Tremor
Gait disturbance

More info about MYOPATHY, DISTAL, 1; MPD1

SOURCES: OMIM

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1

Alternate names

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1 Is also known as cmh, asymmetric septal hypertrophy, hypertrophic subaortic stenosis, idiopathic, ventricular hypertrophy, hereditary, ash

Description

Hereditary ventricular hypertrophy (CMH, HCM, ASH, or IHSS) in early stages produces a presystolic gallop due to an atrial heart sound, and EKG changes of ventricular hypertrophy. Progressive ventricular outflow obstruction may cause palpitation associated with arrhythmia, congestive heart failure, and sudden death. Seidman (2000) reviewed studies of hypertrophic cardiomyopathy in man and mouse. Genetic Heterogeneity of Hypertrophic CardiomyopathyAdditional forms of hypertrophic cardiomyopathy include CMH2 (OMIM ), caused by mutation in the TNNT2 gene (OMIM ) on chromosome 1q32; CMH3 (OMIM ), caused by mutation in the TPM1 gene (OMIM ) on chromosome 15q22; CMH4 (OMIM ), caused by mutation in the MYBPC3 gene (OMIM ) on chromosome 11p11; CMH6 (OMIM ), caused by mutation in the PRKAG2 gene (OMIM ) on chromosome 7q36; CMH7 (OMIM ), caused by mutation in the TNNI3 gene (OMIM ) on chromosome 19q13; CMH8 (OMIM ), caused by mutation in the MYL3 gene (OMIM ) on chromosome 3p21; CMH9 (see {188840}), caused by mutation in the TTN gene (OMIM ) on chromosome 2q31; CMH10 (see {160781}), caused by mutation in the MYL2 gene (OMIM ) on chromosome 12q24; CMH11 (OMIM ), caused by mutation in the ACTC1 gene (OMIM ) on chromosome 15q14; CMH12 (OMIM ), caused by mutation in the CSRP3 gene (OMIM ) on chromosome 11p15; CMH13 (OMIM ), caused by mutation in the TNNC1 gene (OMIM ) on chromosome 3p21; CMH14 (OMIM ), caused by mutation in the MYH6 gene (OMIM ) on chromosome 14q12; CMH15 (OMIM ), caused by mutation in the VCL gene (OMIM ) on chromosome 10q22; CMH16 (OMIM ), caused by mutation in the MYOZ2 gene (OMIM ) on chromosome 4q26; CMH17 (OMIM ), caused by mutation in the JPH2 gene (OMIM ) on chromosome 20q12; CMH18 (OMIM ), caused by mutation in the PLN gene (OMIM ) on chromosome 6q22; CMH19 (OMIM ), caused by mutation in the CALR3 gene (OMIM ) on chromosome 19p13; CMH20 (OMIM ), caused by mutation in the NEXN gene (OMIM ) on chromosome 1p31.1; CMH21, mapped to chromosome 7p12.1-q21; CMH22 (see {615248}), caused by mutation in the MYPN gene (OMIM ) on chromosome 10q21; CMH23 (see {612158}), caused by mutation in the ACTN2 gene (OMIM ) on chromosome 1q43; CMH24 (see {601493}), caused by mutation in the LDB3 gene (OMIM ) on chromosome 10q23; CMH25 (OMIM ), caused by mutation in the TCAP gene (OMIM ) on chromosome 17q12; CMH26 (OMIM ), caused by mutation in the FLNC gene (OMIM ) on chromosome 7q32; and CMH27 (OMIM ), caused by mutation in the ALPK3 gene (OMIM ) on chromosome 15q25.The CMH5 designation was initially assigned to a CMH family showing genetic heterogeneity. Subsequently, affected individuals were found to carry mutations in the MYH7 (CMH1) and/or MYBPC3 (CMH4) genes.Hypertrophic cardiomyopathy has also been associated with mutation in the gene encoding cardiac myosin light-peptide kinase (MYLK2; see {606566.0001}), which resides on chromosome 20q13.3; the gene encoding caveolin-3 (CAV3; see {601253.0013}), which maps to chromosome 3p25; and with mutations in genes encoding mitochondrial tRNAs: see mitochondrial tRNA-glycine (MTTG ) and mitochondrial tRNA-isoleucine (MTTI ).

Most common symptoms of CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1

Cardiomyopathy
Congestive heart failure
Abnormality of metabolism/homeostasis
Arrhythmia
Hypertrophic cardiomyopathy

More info about CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1

SOURCES: OMIM

FAMILIAL ISOLATED DILATED CARDIOMYOPATHY

Alternate names

FAMILIAL ISOLATED DILATED CARDIOMYOPATHY Is also known as cardiomyopathy, familial dilated, cardiomyopathy, familial dilated, 1, cmpd1, familial or idiopathic dilated cardiomyopathy, fdc

Description

Familial isolated dilated cardiomyopathy is a rare, genetically heterogeneous cardiac disease characterized by dilatation leading to systolic and diastolic dysfunction of the left and/or right ventricles, causing heart failure or arrhythmia.

Most common symptoms of FAMILIAL ISOLATED DILATED CARDIOMYOPATHY

Sensorineural hearing impairment
Feeding difficulties
Fatigue
Ventriculomegaly
Cardiomyopathy

More info about FAMILIAL ISOLATED DILATED CARDIOMYOPATHY

SOURCES: OMIM ORPHANET

CARDIOMYOPATHY, DILATED, 1S; CMD1S

Most common symptoms of CARDIOMYOPATHY, DILATED, 1S; CMD1S

Muscle weakness
Ventriculomegaly
Cardiomyopathy
Myopathy
Congestive heart failure

More info about CARDIOMYOPATHY, DILATED, 1S; CMD1S

SOURCES: OMIM MESH

MYH7-RELATED LATE-ONSET SCAPULOPERONEAL MUSCULAR DYSTROPHY

Alternate names

MYH7-RELATED LATE-ONSET SCAPULOPERONEAL MUSCULAR DYSTROPHY Is also known as myh7-related late-onset scapuloperoneal syndrome, myh7-related late-onset spmd

Most common symptoms of MYH7-RELATED LATE-ONSET SCAPULOPERONEAL MUSCULAR DYSTROPHY

Intellectual disability
Hypertension
Gait disturbance
Arrhythmia
Elevated serum creatine phosphokinase

More info about MYH7-RELATED LATE-ONSET SCAPULOPERONEAL MUSCULAR DYSTROPHY

SOURCES: ORPHANET

SCAPULOPERONEAL MYOPATHY, MYH7-RELATED; SPMM

Alternate names

SCAPULOPERONEAL MYOPATHY, MYH7-RELATED; SPMM Is also known as scapuloperoneal syndrome, myopathic type, scapuloperoneal muscular dystrophy, spmd

Most common symptoms of SCAPULOPERONEAL MYOPATHY, MYH7-RELATED; SPMM

Myopathy
Facial palsy
EMG: myopathic abnormalities
Weakness of facial musculature
Scapuloperoneal myopathy

More info about SCAPULOPERONEAL MYOPATHY, MYH7-RELATED; SPMM

SOURCES: OMIM

HYALINE BODY MYOPATHY

Alternate names

HYALINE BODY MYOPATHY Is also known as myopathy, hyaline body, autosomal dominant, myopathy with lysis of type i myofibrils

Description

Myosin storage myopathy, also known as hyaline body myopathy, is a congenital myopathy characterized by the accumulation of ATPase and antibody positive myosin in hyaline subsarcolemmal bodies in type I muscle fibers. The clinical features are variable, with different patients displaying proximal, scapuloperoneal, or generalized weakness and progressive or nonprogressive courses (summary by Dye et al., 2006).

Most common symptoms of HYALINE BODY MYOPATHY

Scoliosis
Muscle weakness
Flexion contracture
Skeletal muscle atrophy
Cardiomyopathy

More info about HYALINE BODY MYOPATHY

SOURCES: ORPHANET OMIM

MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE; MSMB

Alternate names

MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE; MSMB Is also known as myopathy, hyaline body, autosomal recessive

Most common symptoms of MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE; MSMB

Short stature
Scoliosis
Muscle weakness
High palate
Skeletal muscle atrophy

More info about MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE; MSMB

SOURCES: OMIM

LEFT VENTRICULAR NONCOMPACTION

Alternate names

LEFT VENTRICULAR NONCOMPACTION Is also known as spongy myocardium, lvnc, left ventricular hypertrabeculation, left ventricular noncompaction 1 with or without congenital heart defects

Description

Left ventricular noncompaction (LVNC) is a rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events.

Most common symptoms of LEFT VENTRICULAR NONCOMPACTION

Abnormal facial shape
Ventricular septal defect
Respiratory distress
Congestive heart failure
Patent ductus arteriosus

More info about LEFT VENTRICULAR NONCOMPACTION

SOURCES: OMIM ORPHANET

CLASSIC MULTIMINICORE MYOPATHY

Alternate names

CLASSIC MULTIMINICORE MYOPATHY Is also known as classic multiminicore disease, classic mmd

Most common symptoms of CLASSIC MULTIMINICORE MYOPATHY

Short stature
Generalized hypotonia
Scoliosis
Failure to thrive
High palate

More info about CLASSIC MULTIMINICORE MYOPATHY

SOURCES: ORPHANET

Search interest in MYH7

Potential gene panels for MYH7 gene

Distal Myopathy Advanced Sequencing Evaluation Panel

United States.

By Athena Diagnostics Inc Distal Myopathy Advanced Sequencing Evaluation that also includes the following genes: TIA1 MYOT TTN VCP CAV3 LDB3 KLHL9 GNE CRYAB ANO5

MYH7 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to MYH7 gene

Other less frequent symptoms and clinical features

Not very common - Between 30% and 50% cases

Rarely - Less than 30% cases

Rare diseases associated to MYH7 gene

EBSTEIN MALFORMATION

Alternate names

Description

Most common symptoms of EBSTEIN MALFORMATION

LAING EARLY-ONSET DISTAL MYOPATHY

Alternate names

Description

Most common symptoms of LAING EARLY-ONSET DISTAL MYOPATHY

MYOPATHY, DISTAL, 1; MPD1

Alternate names

Most common symptoms of MYOPATHY, DISTAL, 1; MPD1

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1

Alternate names

Description

Most common symptoms of CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1

FAMILIAL ISOLATED DILATED CARDIOMYOPATHY

Alternate names

Description

Most common symptoms of FAMILIAL ISOLATED DILATED CARDIOMYOPATHY

CARDIOMYOPATHY, DILATED, 1S; CMD1S

Most common symptoms of CARDIOMYOPATHY, DILATED, 1S; CMD1S

MYH7-RELATED LATE-ONSET SCAPULOPERONEAL MUSCULAR DYSTROPHY

Alternate names

Most common symptoms of MYH7-RELATED LATE-ONSET SCAPULOPERONEAL MUSCULAR DYSTROPHY

SCAPULOPERONEAL MYOPATHY, MYH7-RELATED; SPMM

Alternate names

Most common symptoms of SCAPULOPERONEAL MYOPATHY, MYH7-RELATED; SPMM

HYALINE BODY MYOPATHY

Alternate names

Description

Most common symptoms of HYALINE BODY MYOPATHY

MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE; MSMB

Alternate names

Most common symptoms of MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE; MSMB

LEFT VENTRICULAR NONCOMPACTION

Alternate names

Description

Most common symptoms of LEFT VENTRICULAR NONCOMPACTION

CLASSIC MULTIMINICORE MYOPATHY

Alternate names

Most common symptoms of CLASSIC MULTIMINICORE MYOPATHY

Search interest in MYH7

Potential gene panels for MYH7 gene

Distal Myopathy Advanced Sequencing Evaluation Panel

Congenital Myopathy Advanced Sequencing Evaluation Panel

Comprehensive Cardiac Panel Panel

Neuromuscular Disorders Panel Panel

Dilated & Arrhythmogenic Cardiomyopathies Panel Panel

Hypertrophic Cardiomyopathy Panel Panel

MYH7 sequencing Panel

Hypertrophic cardiomyopathy - full panel Panel

Dilated cardiomyopathy - full panel Panel

Dilated cardiomyopathy - familial variant analysis Panel

Hypertrophic cardiomyopathy - familial variant analysis Panel

Pan-cardiomyopathy panel Panel

Cardiomyopathy Panel Panel

Dilated Cardiomyopathy Panel Panel

Hypertrophic Cardiomyopathy Panel Panel

Arrhythmogenic Right Ventricular Cardiomyopathy Panel

Comprehensive Neuromuscular Panel Panel

Congenital Muscular Myopathy Panel

Non-Compaction Arrhythmogenic Left Ventricular Cardiomyopathy Panel

Restrictive Cardiomyopathy Panel

Left Ventricular Noncompaction (13 genes) Panel

Dilated Cardiomyopathy Panel (30 genes) Panel

Hypertrophic Cardiomyopathy Panel (23 genes) Panel

Comprehensive Cardiomyopathy Panel (37 genes) Panel

Restrictive Cardiomyopathy Panel Panel

MYH7 Sequencing Panel

DCM and DMD related Cardiomyopathy Panel

Neuromuscular Disorders Sequencing Panel Panel

Congenital Myopathy Sequencing Panel Panel

Congenital Myopathy with Prominent Contractures Deletion/Duplication Analysis Panel

Congenital Myopathy with Prominent Contractures Sequencing Panel Panel