MPD1
MCID: MYP125
MIFTS: 48

Myopathy, Distal, 1 (MPD1)

Categories: Bone diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Myopathy, Distal, 1

MalaCards integrated aliases for Myopathy, Distal, 1:

Name: Myopathy, Distal, 1 57 72 29 6
Laing Distal Myopathy 57 12 25 20 43 72 36 13
Laing Early-Onset Distal Myopathy 12 25 20 43 58 72
Mpd1 57 12 43 58 72
Distal Myopathy 1 12 43 72 15
Distal Myopathy Type 1 12 58
Gowers Disease 12 58
Myopathy, Distal, Early-Onset, Autosomal Dominant 57
Myopathy Distal Early-Onset Autosomal Dominant 72
Myopathy, Late Distal Hereditary 57
Myopathy Late Distal Hereditary 72
Welander Distal Myopathy 70
Myopathy, Distal, Type 1 39
Myopathy Distal, Type 1 20

Characteristics:

Orphanet epidemiological data:

58
laing early-onset distal myopathy
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
slowly progressive
onset in infancy or childhood
later onset has been reported
allelic to myosin storage myopathy


HPO:

31
myopathy, distal, 1:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset slow progression childhood onset


GeneReviews:

25
Penetrance Penetrance appears to be at least 85%....

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0070197
OMIM® 57 160500
KEGG 36 H01977
MeSH 44 D049310
ICD10 via Orphanet 33 G71.0
Orphanet 58 ORPHA59135
UMLS 70 C0221054

Summaries for Myopathy, Distal, 1

MedlinePlus Genetics : 43 Laing distal myopathy is a condition that affects skeletal muscles, which are muscles that the body uses for movement. This disorder causes progressive muscle weakness that appears in childhood. The first sign of Laing distal myopathy is usually weakness in certain muscles in the feet and ankles. This weakness leads to tightening of the Achilles tendon (the band that connects the heel of the foot to the calf muscles), an inability to lift the first (big) toe, and a high-stepping walk. Months to years later, muscle weakness develops in the hands and wrists. Weakness in these muscles makes it difficult to lift the fingers, particularly the third and fourth fingers. Many affected people also experience hand tremors.In addition to muscle weakness in the hands and feet, Laing distal myopathy causes weakness in several muscles of the neck and face. A decade or more after the onset of symptoms, mild weakness also spreads to muscles in the legs, hips, and shoulders. Laing distal myopathy progresses very gradually, and most affected people remain mobile throughout life. Life expectancy is normal in people with this condition.

MalaCards based summary : Myopathy, Distal, 1, also known as laing distal myopathy, is related to autosomal dominant distal myopathy and cardiomyopathy, familial hypertrophic, 1, and has symptoms including myalgia An important gene associated with Myopathy, Distal, 1 is MYH7 (Myosin Heavy Chain 7), and among its related pathways/superpathways are Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases and RhoGDI Pathway. Affiliated tissues include skeletal muscle, and related phenotypes are foot dorsiflexor weakness and toe extensor amyotrophy

Disease Ontology : 12 A distal muscular dystrophy characterized by autosomal dominant inheritance that has material basis in mutation in the MYH7 gene on chromosome 14q11.

GARD : 20 Laing distal myopathy is a slowly progressive muscle disorder that tends to begin in childhood. Early symptoms include weakness in the feet and ankles, followed by weakness in the hands and wrists. Weakness in the feet leads to tightening of the Achilles tendon, an inability to lift the big toe, and a high-stepping walk. Weakness in the hands makes it more difficult to lift the fingers, especially the third and fourth fingers. As the muscle weakness slowly progresses over the course of many years, other muscles of the body (e.g., neck, face, legs, hips, and shoulders) weaken. Other findings include scoliosis and cardiomyopathy in up to one third of individuals. Most affected people remain mobile throughout life. Life expectancy is normal. Laing distal myopathy is caused by mutations in the MYH7 gene and is inherited in an autosomal dominant fashion. Treatment may include physiotherapy to prevent tightening of the Achilles tendon and splinting of the ankle. Annual neurologic examinations, evaluations for scoliosis, and regular assessments of cardiac and respiratory functions may be necessary.

KEGG : 36 Laing distal myopathy (MPD1) is an early onset autosomal dominant distal myopathy. Selective weakness of the anterior tibial muscles is followed by weakness of the finger extensors and of selected proximal muscle groups, such as the abductors and rotators. This disease is caused by mutations in MYH7, the gene encoding the myosin heavy chain, which is expressed in type 1 fibers of skeletal muscle and in the heart.

UniProtKB/Swiss-Prot : 72 Myopathy, distal, 1: A muscular disorder characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, followed by weakness of the finger extensors. Mild proximal weakness occasionally develops years later after the onset of the disease.

More information from OMIM: 160500
GeneReviews: NBK1433

Related Diseases for Myopathy, Distal, 1

Diseases in the Myopathy, Distal, Infantile-Onset family:

Myopathy, Distal, 1 Myopathy, Distal, 3
Myopathy, Distal, 4 Myopathy, Distal, 5
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant Cav3-Related Distal Myopathy
Autosomal Recessive Distal Myopathy Autosomal Dominant Distal Myopathy
Adult-Onset Distal Myopathy Due to Vcp Mutation Klhl9-Related Early-Onset Distal Myopathy

Diseases related to Myopathy, Distal, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 50)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant distal myopathy 30.4 MYH7 MHRT MATR3
2 cardiomyopathy, familial hypertrophic, 1 30.3 MYH8 MYH7 MYH6 MYH2 MHRT LRRC39
3 hyaline body myopathy 30.0 MYH8 MYH7 MYH6 MYH2
4 foot drop 10.4
5 sick sinus syndrome 3 10.4 MYH6 LOC114827851
6 first-degree atrioventricular block 10.3 MYH7 MHRT
7 wolff-parkinson-white syndrome 10.3 MYH7 MYH6 MHRT
8 cardiomyopathy, dilated, 1b 10.3 MYH7 MYH6 MHRT
9 dilated cardiomyopathy 10.3
10 scapuloperoneal myopathy 10.3 MYH7 MYH6 MHRT LOC114827851
11 atrial septal defect 3 10.3 MYH6 LOC114827851
12 primary cutaneous diffuse large b-cell lymphoma, leg type 10.3 PDCD1LG2 CD274
13 intrinsic cardiomyopathy 10.2 MYH7 MYH6 ICOSLG
14 extrinsic cardiomyopathy 10.2 MYH6 ICOSLG CD274
15 peripartum cardiomyopathy 10.2 PDCD1 MYH7 CD274
16 cryptococcosis 10.2 PLB1 GPD1 BLZF1
17 exanthem 10.2 PDCD1 ICOSLG CD274
18 primary mediastinal large b-cell lymphoma 10.2 PDCD1LG2 CD274
19 mobitz type ii atrioventricular block 10.2 MYH7 MYH6
20 mixed oligodendroglioma-astrocytoma 10.2 PDCD1 CD274
21 vitiligo-associated multiple autoimmune disease susceptibility 1 10.2 PDCD1 ICOSLG CD274
22 gray zone lymphoma 10.2 PDCD1LG2 CD274
23 left ventricular noncompaction 10.2 MYH7 MYH6 MHRT LOC114827851
24 congenital fiber-type disproportion 10.2 MYH7 MYH6 MYH2 MHRT
25 testicular lymphoma 10.2 PDCD1LG2 PDCD1 CD274
26 type 1 diabetes mellitus 21 10.2 PDCD1LG2 PDCD1 CD274
27 muscle tissue disease 10.2 MYH7 MYH6 MYH2 ICOSLG
28 lung non-squamous non-small cell carcinoma 10.2 PDCD1LG2 PDCD1 CD274
29 gastroesophageal junction adenocarcinoma 10.2 PDCD1LG2 PDCD1 CD274
30 arthrogryposis, distal, type 5 10.2 MYH8 MYH6 MYH2
31 muscular disease 10.2 MYH7 MYH6 ICOSLG
32 angioimmunoblastic t-cell lymphoma 10.1 PDCD1LG2 PDCD1 CD274
33 inclusion body myositis 10.1
34 myositis 10.1
35 nonaka myopathy 10.1
36 sleep apnea 10.1
37 scoliosis 10.1
38 mitochondrial myopathy 10.1
39 muscular atrophy 10.1
40 mitochondrial disorders 10.1
41 udd distal myopathy - tibial muscular dystrophy 10.1
42 autoimmune cardiomyopathy 10.1 PDCD1LG2 PDCD1 ICOSLG CD274
43 restrictive cardiomyopathy 10.1 MYH7 MYH6 MHRT
44 mitochondrial dna depletion syndrome 12b 10.0 MYH7 MYH6
45 skin melanoma 10.0 PDCD1LG2 PDCD1 ICOSLG CD274
46 atrial standstill 1 9.9
47 miyoshi muscular dystrophy 9.9
48 hypertrophic cardiomyopathy 9.9
49 myopathy 9.9
50 neuromuscular disease 9.9

Graphical network of the top 20 diseases related to Myopathy, Distal, 1:



Diseases related to Myopathy, Distal, 1

Symptoms & Phenotypes for Myopathy, Distal, 1

Human phenotypes related to Myopathy, Distal, 1:

58 31 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 foot dorsiflexor weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0009027
2 toe extensor amyotrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0011916
3 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
4 gait disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0001288
5 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
6 type 1 muscle fiber predominance 58 31 frequent (33%) Frequent (79-30%) HP:0003803
7 myalgia 58 31 frequent (33%) Frequent (79-30%) HP:0003326
8 abnormal mitochondria in muscle tissue 58 31 frequent (33%) Frequent (79-30%) HP:0008316
9 mildly elevated creatine kinase 58 31 frequent (33%) Frequent (79-30%) HP:0008180
10 minicore myopathy 58 31 frequent (33%) Frequent (79-30%) HP:0003789
11 distal muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0002460
12 abnormality of the calf musculature 58 31 frequent (33%) Frequent (79-30%) HP:0001430
13 progressive muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003323
14 neck muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0000467
15 talipes cavus equinovarus 58 31 frequent (33%) Frequent (79-30%) HP:0004696
16 weakness of orbicularis oculi muscle 58 31 frequent (33%) Frequent (79-30%) HP:0012507
17 dilated cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001644
18 emg: myopathic abnormalities 58 31 occasional (7.5%) Occasional (29-5%) HP:0003458
19 proximal muscle weakness in lower limbs 58 31 occasional (7.5%) Occasional (29-5%) HP:0008994
20 proximal muscle weakness 31 occasional (7.5%) HP:0003701
21 rimmed vacuoles 58 31 Excluded (0%) HP:0003805
22 facial palsy 31 HP:0010628
23 ragged-red muscle fibers 31 HP:0003200
24 pes cavus 31 HP:0001761
25 weakness of long finger extensor muscles 31 HP:0009077
26 emg: neuropathic changes 31 HP:0003445
27 amyotrophy of ankle musculature 31 HP:0009031

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Spine:
scoliosis

Skeletal Feet:
pes cavus

Head And Neck Mouth:
high-arched palate

Cardiovascular Heart:
dilated cardiomyopathy may occur

Muscle Soft Tissue:
myalgia
ragged red fibers
type 1 fiber predominance
weakness of ankle and toe extensor (dorsiflexor) muscles
atrophy of ankle and toe extensor (dorsiflexor) muscles
more
Head And Neck Neck:
neck muscle weakness

Head And Neck Face:
facial muscle weakness, mild

Laboratory Abnormalities:
normal to mildly increased serum creatine kinase

Clinical features from OMIM®:

160500 (Updated 05-Apr-2021)

UMLS symptoms related to Myopathy, Distal, 1:


myalgia

Drugs & Therapeutics for Myopathy, Distal, 1

Search Clinical Trials , NIH Clinical Center for Myopathy, Distal, 1

Genetic Tests for Myopathy, Distal, 1

Genetic tests related to Myopathy, Distal, 1:

# Genetic test Affiliating Genes
1 Myopathy, Distal, 1 29 MYH7

Anatomical Context for Myopathy, Distal, 1

MalaCards organs/tissues related to Myopathy, Distal, 1:

40
Skeletal Muscle

Publications for Myopathy, Distal, 1

Articles related to Myopathy, Distal, 1:

(show top 50) (show all 65)
# Title Authors PMID Year
1
MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy. 25 61 57 6
20733148 2010
2
An autosomal dominant early adult-onset distal muscular dystrophy. 57 25 6 61
11102913 2000
3
Spanish MYH7 founder mutation of Italian ancestry causing a large cluster of Laing myopathy patients. 25 57 6
21395566 2012
4
Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1). 6 57 25
15322983 2004
5
The second kindred with autosomal dominant distal myopathy linked to chromosome 14q: genetic and clinical analysis. 6 25 57
12975303 2003
6
New skeletal myopathy and cardiomyopathy associated with a missense mutation in MYH7. 57 6
17548557 2007
7
Autosomal dominant distal myopathy: further evidence of a chromosome 14 locus. 57 6
11166161 2001
8
165th ENMC International Workshop: distal myopathies 6-8th February 2009 Naarden, The Netherlands. 25 6
19477645 2009
9
Exome sequencing identifies Laing distal myopathy MYH7 mutation in a Roma family previously diagnosed with distal neuronopathy. 6 61
24300783 2014
10
A novel MYH7 mutation occurring independently in French and Norwegian Laing distal myopathy families and de novo in one Finnish patient. 61 6
21279644 2011
11
Clinical features and genotypes of Laing distal myopathy in a group of Chinese patients, with in-frame deletions of MYH7 as common mutations. 61 25
33298082 2020
12
A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain. 25 61
30166250 2018
13
Two novel MYH7 proline substitutions cause Laing Distal Myopathy-like phenotypes with variable expressivity and neck extensor contracture. 25 61
27519903 2016
14
MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients. 61 25
27387980 2016
15
A novel MYH7 Leu1453pro mutation resulting in Laing distal myopathy in an Irish family. 25 61
25447691 2015
16
Laing distal myopathy pathologically resembling inclusion body myositis. 25 61
25574480 2014
17
Malignant effects of multiple rare variants in sarcomere genes on the prognosis of patients with hypertrophic cardiomyopathy. 6
25132132 2014
18
New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants. 6
23299917 2013
19
A novel MYH7 mutation with prominent paraspinal and proximal muscle involvement. 61 25
23707328 2013
20
Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy. 6
23283745 2013
21
Abnormal calcium handling properties underlie familial hypertrophic cardiomyopathy pathology in patient-specific induced pluripotent stem cells. 6
23290139 2013
22
Myosinopathies: pathology and mechanisms. 25 61
22918376 2013
23
New phenotype and pathology features in MYH7-related distal myopathy. 25 61
22521714 2012
24
Effects of pathogenic proline mutations on myosin assembly. 25 61
22155079 2012
25
Early onset chromosome 14-linked distal myopathy (Laing). 57
12062252 2002
26
Familial hypertrophic cardiomyopathy and atrial fibrillation caused by Arg663His beta-cardiac myosin heavy chain mutation. 6
10750581 1999
27
Infantile autosomal dominant distal myopathy. 57
7484058 1995
28
Autosomal dominant distal myopathy: linkage to chromosome 14. 57
7847377 1995
29
A Lecture on Myopathy and a Distal Form: Delivered at the National Hospital for the Paralysed and Epileptic. 57
20760370 1902
30
Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience. 25
32153140 2020
31
Laing early-onset distal myopathy with subsarcolemmal hyaline bodies caused by a novel variant in the MYH7 gene. 25
32607476 2020
32
[A case of Japanese Laing type distal myopathy with a mutation in MYH7 gene]. 25
31761835 2019
33
Recessive MYH7-related myopathy in two families. 25
31130376 2019
34
Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement. 25
29624713 2018
35
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 25
28349240 2017
36
A Restrictive Cardiomyopathy Mutation in an Invariant Proline at the Myosin Head/Rod Junction Enhances Head Flexibility and Function, Yielding Muscle Defects in Drosophila. 25
27107639 2016
37
De novo exonic mutation in MYH7 gene leading to exon skipping in a patient with early onset muscular weakness and fiber-type disproportion. 25
26782017 2016
38
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25
25741868 2015
39
Distal myosin heavy chain-7 myopathy due to the novel transition c.5566G>A (p.E1856K) with high interfamilial cardiac variability and putative anticipation. 25
24953931 2014
40
Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy. 25
24664454 2014
41
Novel MYH7 mutation associated with mild myopathy but life-threatening ventricular arrhythmias and noncompaction. 25
24726209 2014
42
Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1. 25
23401021 2013
43
Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement. 25
22784669 2012
44
MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy. 25
17336526 2007
45
Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy. 25
16103042 2006
46
Welander distal myopathy outside the Swedish population: phenotype and genotype. 25
12117477 2002
47
A thermodynamic scale for the helix-forming tendencies of the commonly occurring amino acids. 25
2237415 1990
48
Periodic charge distributions in the myosin rod amino acid sequence match cross-bridge spacings in muscle. 25
7202124 1982
49
Laing Myopathy: Report of 4 New Families With Novel MYH7 Mutations, Double Mutations, and Severe Phenotype. 61
32833721 2020
50
A novel MYH7 mutation resulting in Laing distal myopathy in a Chinese family. 61
30897599 2019

Variations for Myopathy, Distal, 1

ClinVar genetic disease variations for Myopathy, Distal, 1:

6 (show top 50) (show all 195)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MYH7 , MHRT NM_000257.4(MYH7):c.4906G>C (p.Ala1636Pro) SNV Pathogenic 143219 rs587779415 GRCh37: 14:23885260-23885260
GRCh38: 14:23416051-23416051
2 MYH7 NM_000257.4(MYH7):c.746G>A (p.Arg249Gln) SNV Pathogenic 14088 rs3218713 GRCh37: 14:23900677-23900677
GRCh38: 14:23431468-23431468
3 MYH7 NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys) SNV Pathogenic 42874 rs397516127 GRCh37: 14:23896043-23896043
GRCh38: 14:23426834-23426834
4 MYH7 , MHRT NM_000257.3(MYH7):c.4522_4524delGAG (p.Glu1508del) Microsatellite Pathogenic 43023 rs397516220 GRCh37: 14:23886197-23886199
GRCh38: 14:23416988-23416990
5 MYH7 , MHRT NM_000257.4(MYH7):c.5177_5179AGA[3] (p.Lys1729del) Microsatellite Pathogenic 42096 rs367543052 GRCh37: 14:23884685-23884687
GRCh38: 14:23415476-23415478
6 MYH7 , MHRT NM_000257.4(MYH7):c.4442T>C (p.Leu1481Pro) SNV Pathogenic 143209 rs587779414 GRCh37: 14:23886439-23886439
GRCh38: 14:23417230-23417230
7 MYH7 , MHRT NM_000257.4(MYH7):c.4622A>C (p.Gln1541Pro) SNV Pathogenic 143210 rs587779389 GRCh37: 14:23886099-23886099
GRCh38: 14:23416890-23416890
8 MYH7 , MHRT NM_000257.4(MYH7):c.4795A>C (p.Thr1599Pro) SNV Pathogenic 143211 rs587779390 GRCh37: 14:23885371-23885371
GRCh38: 14:23416162-23416162
9 MYH7 , MHRT NM_000257.4(MYH7):c.4823G>C (p.Arg1608Pro) SNV Pathogenic 143212 rs587779391 GRCh37: 14:23885343-23885343
GRCh38: 14:23416134-23416134
10 MYH7 , MHRT NM_000257.4(MYH7):c.4835T>C (p.Leu1612Pro) SNV Pathogenic 143213 rs587779392 GRCh37: 14:23885331-23885331
GRCh38: 14:23416122-23416122
11 MYH7 , MHRT NM_000257.4(MYH7):c.4937T>C (p.Leu1646Pro) SNV Pathogenic 143214 rs587779393 GRCh37: 14:23885229-23885229
GRCh38: 14:23416020-23416020
12 MYH7 , MHRT NM_000257.4(MYH7):c.4985G>C (p.Arg1662Pro) SNV Pathogenic 143215 rs370328209 GRCh37: 14:23885010-23885010
GRCh38: 14:23415801-23415801
13 MYH7 , MHRT NM_000257.4(MYH7):c.5005_5007del (p.Glu1669del) Deletion Pathogenic 143216 rs587779394 GRCh37: 14:23884988-23884990
GRCh38: 14:23415779-23415781
14 MYH7 , MHRT NM_000257.4(MYH7):c.5177_5179AGA[5] (p.Lys1729dup) Microsatellite Pathogenic 143217 rs367543052 GRCh37: 14:23884684-23884685
GRCh38: 14:23415475-23415476
15 MYH7 NM_000257.4(MYH7):c.5378_5380del (p.Leu1793del) Deletion Pathogenic 143218 rs587779396 GRCh37: 14:23884383-23884385
GRCh38: 14:23415174-23415176
16 MYH7 NM_000257.4(MYH7):c.5401G>A (p.Glu1801Lys) SNV Pathogenic 43069 rs397516248 GRCh37: 14:23884362-23884362
GRCh38: 14:23415153-23415153
17 MYH7 NM_000257.4(MYH7):c.5740G>A (p.Glu1914Lys) SNV Pathogenic 43088 rs397516254 GRCh37: 14:23883018-23883018
GRCh38: 14:23413809-23413809
18 MYH7 NM_000257.4(MYH7):c.1322C>T (p.Thr441Met) SNV Pathogenic 14122 rs121913653 GRCh37: 14:23898249-23898249
GRCh38: 14:23429040-23429040
19 MYH7 , MHRT NM_000257.4(MYH7):c.4499G>C (p.Arg1500Pro) SNV Pathogenic 14115 rs121913647 GRCh37: 14:23886382-23886382
GRCh38: 14:23417173-23417173
20 MYH7 , MHRT NM_000257.4(MYH7):c.4844_4846AGA[2] (p.Lys1617del) Microsatellite Pathogenic 190401 rs121913648 GRCh37: 14:23885314-23885316
GRCh38: 14:23416105-23416107
21 MYH7 NM_000257.4(MYH7):c.5378_5380del (p.Leu1793del) Deletion Pathogenic 143218 rs587779396 GRCh37: 14:23884383-23884385
GRCh38: 14:23415174-23415176
22 MYH7 NM_000257.4(MYH7):c.5566G>A (p.Glu1856Lys) SNV Pathogenic 190403 rs797044598 GRCh37: 14:23883305-23883305
GRCh38: 14:23414096-23414096
23 MYH7 NM_000257.4(MYH7):c.5740G>A (p.Glu1914Lys) SNV Pathogenic 43088 rs397516254 GRCh37: 14:23883018-23883018
GRCh38: 14:23413809-23413809
24 MYH7 , MHRT NM_000257.4(MYH7):c.4315G>C (p.Ala1439Pro) SNV Pathogenic 190404 rs797044599 GRCh37: 14:23886750-23886750
GRCh38: 14:23417541-23417541
25 MYH7 , MHRT NM_000257.4(MYH7):c.4763G>C (p.Arg1588Pro) SNV Pathogenic 190405 rs797044600 GRCh37: 14:23885403-23885403
GRCh38: 14:23416194-23416194
26 MYH7 , MHRT NM_000257.4(MYH7):c.4772T>C (p.Leu1591Pro) SNV Pathogenic 190406 rs730880808 GRCh37: 14:23885394-23885394
GRCh38: 14:23416185-23416185
27 MYH7 , MHRT NM_000257.4(MYH7):c.4807G>C (p.Ala1603Pro) SNV Pathogenic 190407 rs730880809 GRCh37: 14:23885359-23885359
GRCh38: 14:23416150-23416150
28 MYH7 , MHRT NM_000257.4(MYH7):c.4987G>C (p.Ala1663Pro) SNV Pathogenic 190408 rs797044601 GRCh37: 14:23885008-23885008
GRCh38: 14:23415799-23415799
29 MYH7 , MHRT NM_000257.4(MYH7):c.5117T>C (p.Leu1706Pro) SNV Pathogenic 190409 rs797044602 GRCh37: 14:23884878-23884878
GRCh38: 14:23415669-23415669
30 MYH7 NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys) SNV Pathogenic 14092 rs121913628 GRCh37: 14:23893268-23893268
GRCh38: 14:23424059-23424059
31 MYH7 NM_000257.4(MYH7):c.2717A>G (p.Asp906Gly) SNV Pathogenic 14125 rs267606908 GRCh37: 14:23893321-23893321
GRCh38: 14:23424112-23424112
32 MYH7 NM_000257.4(MYH7):c.1988G>A (p.Arg663His) SNV Pathogenic 42875 rs371898076 GRCh37: 14:23896042-23896042
GRCh38: 14:23426833-23426833
33 MYH7 NM_000257.4(MYH7):c.1988G>A (p.Arg663His) SNV Pathogenic 42875 rs371898076 GRCh37: 14:23896042-23896042
GRCh38: 14:23426833-23426833
34 MYH7 NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) SNV Pathogenic 42901 rs3218716 GRCh37: 14:23894525-23894525
GRCh38: 14:23425316-23425316
35 MYH7 NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp) SNV Pathogenic 14102 rs3218714 GRCh37: 14:23898488-23898488
GRCh38: 14:23429279-23429279
36 MYH7 NM_000257.4(MYH7):c.2804A>T (p.Glu935Val) SNV Likely pathogenic 181207 rs730880761 GRCh37: 14:23893234-23893234
GRCh38: 14:23424025-23424025
37 MYH7 NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln) SNV Likely pathogenic 164312 rs397516171 GRCh37: 14:23893250-23893250
GRCh38: 14:23424041-23424041
38 MYH7 NM_000257.4(MYH7):c.1544T>C (p.Met515Thr) SNV Likely pathogenic 216968 rs863224900 GRCh37: 14:23897743-23897743
GRCh38: 14:23428534-23428534
39 MYH7 NM_000257.4(MYH7):c.5560-2A>C SNV Likely pathogenic 562179 rs1566521710 GRCh37: 14:23883313-23883313
GRCh38: 14:23414104-23414104
40 MYH7 NM_000257.4(MYH7):c.1141G>A (p.Ala381Thr) SNV Likely pathogenic 179272 rs727504753 GRCh37: 14:23898554-23898554
GRCh38: 14:23429345-23429345
41 MYH7 NM_000257.4(MYH7):c.715G>A (p.Asp239Asn) SNV Likely pathogenic 43100 rs397516264 GRCh37: 14:23900811-23900811
GRCh38: 14:23431602-23431602
42 MYH7 , MHRT NM_000257.4(MYH7):c.4395G>A (p.Ser1465=) SNV Uncertain significance 881069 GRCh37: 14:23886486-23886486
GRCh38: 14:23417277-23417277
43 MYH7 NM_000257.4(MYH7):c.1139-4C>T SNV Uncertain significance 312914 rs886050422 GRCh37: 14:23898560-23898560
GRCh38: 14:23429351-23429351
44 MYH7 NM_000257.4(MYH7):c.5725C>T (p.Arg1909Trp) SNV Uncertain significance 838063 GRCh37: 14:23883033-23883033
GRCh38: 14:23413824-23413824
45 MYH7 , MHRT NM_000257.4(MYH7):c.4953+6C>A SNV Uncertain significance 880973 GRCh37: 14:23885207-23885207
GRCh38: 14:23415998-23415998
46 MYH7 NM_000257.4(MYH7):c.4158C>T (p.Leu1386=) SNV Uncertain significance 312899 rs886050418 GRCh37: 14:23887430-23887430
GRCh38: 14:23418221-23418221
47 MYH7 NM_000257.4(MYH7):c.733-3C>T SNV Uncertain significance 222732 rs765068619 GRCh37: 14:23900693-23900693
GRCh38: 14:23431484-23431484
48 MYH7 NM_000257.4(MYH7):c.1983C>T (p.Asn661=) SNV Uncertain significance 42873 rs146474860 GRCh37: 14:23896047-23896047
GRCh38: 14:23426838-23426838
49 MYH7 NM_000257.4(MYH7):c.3934C>T (p.Leu1312=) SNV Uncertain significance 312901 rs886050419 GRCh37: 14:23888424-23888424
GRCh38: 14:23419215-23419215
50 MYH7 NM_000257.4(MYH7):c.1334C>T (p.Ala445Val) SNV Uncertain significance 264593 rs752349938 GRCh37: 14:23898237-23898237
GRCh38: 14:23429028-23429028

UniProtKB/Swiss-Prot genetic disease variations for Myopathy, Distal, 1:

72
# Symbol AA change Variation ID SNP ID
1 MYH7 p.Arg1500Pro VAR_022369 rs121913647
2 MYH7 p.Ala1663Pro VAR_022370 rs797044601
3 MYH7 p.Leu1706Pro VAR_022371 rs797044602
4 MYH7 p.Thr441Met VAR_042785 rs121913653

Expression for Myopathy, Distal, 1

Search GEO for disease gene expression data for Myopathy, Distal, 1.

Pathways for Myopathy, Distal, 1

Pathways related to Myopathy, Distal, 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.29 MYH8 MYH7 MYH6 MYH2
2
Show member pathways
12.09 MYH8 MYH7 MYH6 MYH2
3
Show member pathways
12.01 MYH8 MYH7 MYH6 MYH2
4
Show member pathways
11.8 PDCD1LG2 PDCD1 ICOSLG CD274
5
Show member pathways
11.67 PDCD1LG2 PDCD1 CD274
6 11.63 PDCD1LG2 PDCD1 ICOSLG CD274
7 11.17 MYH8 MYH7 MYH6 MYH2
8 11.08 PDCD1LG2 PDCD1 ICOSLG CD274
9 10.72 MYH8 MYH7 MYH6 MYH2

GO Terms for Myopathy, Distal, 1

Cellular components related to Myopathy, Distal, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sarcomere GO:0030017 9.62 MYH8 MYH7 MYH6 MYH2
2 myosin complex GO:0016459 9.56 MYH8 MYH7 MYH6 MYH2
3 myofibril GO:0030016 9.46 MYH8 MYH7 MYH6 MYH2
4 myosin filament GO:0032982 9.26 MYH8 MYH7 MYH6 MYH2
5 muscle myosin complex GO:0005859 8.92 MYH8 MYH7 MYH6 MYH2

Biological processes related to Myopathy, Distal, 1 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.49 MYH7 MYH6
2 negative regulation of interleukin-10 production GO:0032693 9.48 PDCD1LG2 CD274
3 regulation of the force of heart contraction GO:0002026 9.46 MYH7 MYH6
4 muscle contraction GO:0006936 9.46 MYH8 MYH7 MYH6 MYH2
5 negative regulation of activated T cell proliferation GO:0046007 9.43 PDCD1LG2 CD274
6 ATP metabolic process GO:0046034 9.43 MYH8 MYH7 MYH6
7 striated muscle contraction GO:0006941 9.4 MYH7 MYH6
8 cardiac muscle hypertrophy in response to stress GO:0014898 9.37 MYH7 MYH6
9 adult heart development GO:0007512 9.32 MYH7 MYH6
10 T cell costimulation GO:0031295 9.26 PDCD1LG2 PDCD1 ICOSLG CD274
11 muscle filament sliding GO:0030049 8.92 MYH8 MYH7 MYH6 MYH2

Molecular functions related to Myopathy, Distal, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin filament binding GO:0051015 9.62 MYH8 MYH7 MYH6 MYH2
2 calmodulin binding GO:0005516 9.56 MYH8 MYH7 MYH6 MYH2
3 actin-dependent ATPase activity GO:0030898 9.37 MYH7 MYH6
4 motor activity GO:0003774 9.26 MYH8 MYH7 MYH6 MYH2
5 myosin phosphatase activity GO:0017018 9.16 MYH8 MYH6
6 microfilament motor activity GO:0000146 8.92 MYH8 MYH7 MYH6 MYH2

Sources for Myopathy, Distal, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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