MPD1
MCID: MYP125
MIFTS: 49

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 56 73 29 6
Laing Distal Myopathy 56 12 24 52 25 73 36 13
Laing Early-Onset Distal Myopathy 12 24 52 25 58 73
Mpd1 56 12 25 58 73
Distal Myopathy 1 12 25 73 15
Distal Myopathy Type 1 12 58
Gowers Disease 12 58
Myopathy, Distal, Early-Onset, Autosomal Dominant 56
Myopathy Distal Early-Onset Autosomal Dominant 73
Myopathy, Late Distal Hereditary 56
Myopathy Late Distal Hereditary 73
Welander Distal Myopathy 71
Myopathy, Distal, Type 1 39
Myopathy Distal, Type 1 52

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
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:

24
Penetrance Penetrance appears to be at least 85%....

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0070197
OMIM 56 160500
KEGG 36 H01977
MeSH 43 D049310
ICD10 via Orphanet 33 G71.0
Orphanet 58 ORPHA59135
UMLS 71 C0221054

Summaries for Myopathy, Distal, 1

Genetics Home Reference : 25 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 hyaline body myopathy, 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 Actin Nucleation by ARP-WASP Complex and Sertoli-Sertoli Cell Junction Dynamics. Affiliated tissues include skeletal muscle and heart, 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.

NIH Rare Diseases : 52 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 : 73 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 49)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant distal myopathy 30.9 MYH7 MATR3
2 hyaline body myopathy 29.0 MYH8 MYH7 MYH6 MYH3 MYH2
3 myopathy 28.6 MYH7 MYH6 MYH3 MYH2 MHRT MATR3
4 sick sinus syndrome 3 10.4 MYH6 LOC114827851
5 first-degree atrioventricular block 10.3 MYH7 MHRT
6 foot drop 10.3
7 intrinsic cardiomyopathy 10.2 MYH7 MYH6 ICOSLG
8 atrial standstill 1 10.2
9 miyoshi muscular dystrophy 10.2
10 scapuloperoneal myopathy 10.2 MYH7 MYH6 MHRT LOC114827851
11 restrictive cardiomyopathy 10.2 MYH7 MYH6 MHRT
12 atrial septal defect 3 10.2 MYH6 LOC114827851
13 left ventricular noncompaction 10.1 MYH7 MYH6 MHRT LOC114827851
14 congenital fiber-type disproportion 10.1 MYH7 MYH6 MYH2
15 cardiomyopathy, familial hypertrophic, 1 10.1
16 hypertrophic cardiomyopathy 10.1
17 myopathy, distal, 3 10.1 MATR3 ADSS1
18 dilated cardiomyopathy 10.1
19 primary cutaneous diffuse large b-cell lymphoma, leg type 10.1 PDCD1LG2 CD274
20 cardiomyopathy, dilated, 1b 10.1 MYH7 MYH6
21 peripartum cardiomyopathy 10.1 PDCD1 MYH7 CD274
22 mixed oligodendroglioma-astrocytoma 10.1 PDCD1 CD274
23 primary mediastinal large b-cell lymphoma 10.1 PDCD1LG2 CD274
24 myopathy, distal, 4 10.1 MATR3 ADSS1
25 autoimmune disease of skin and connective tissue 10.1 PDCD1 ICOSLG CD274
26 exanthem 10.1 PDCD1 ICOSLG CD274
27 cryptococcosis 10.1 PLB1 GPD1 BLZF1
28 gray zone lymphoma 10.0 PDCD1LG2 CD274
29 vitiligo-associated multiple autoimmune disease susceptibility 1 10.0 PDCD1 ICOSLG CD274
30 inclusion body myositis 10.0
31 myositis 10.0
32 nonaka myopathy 10.0
33 sleep apnea 10.0
34 scoliosis 10.0
35 mitochondrial myopathy 10.0
36 muscular atrophy 10.0
37 udd distal myopathy - tibial muscular dystrophy 10.0
38 testicular lymphoma 9.9 PDCD1LG2 PDCD1 CD274
39 lung non-squamous non-small cell carcinoma 9.9 PDCD1LG2 PDCD1 CD274
40 gastroesophageal junction adenocarcinoma 9.9 PDCD1LG2 PDCD1 CD274
41 epstein-barr virus-associated gastric carcinoma 9.9 PDCD1LG2 CD274
42 autoimmune cardiomyopathy 9.8 PDCD1LG2 PDCD1 ICOSLG CD274
43 muscular disease 9.7 MYH7 MYH6 MYH3 ICOSLG
44 arthrogryposis, distal, type 2a 9.5 MYH8 MYH6 MYH3
45 arthrogryposis, distal, type 7 9.5 MYH8 MYH3
46 muscle tissue disease 9.4 MYH7 MYH6 MYH3 MYH2 ICOSLG
47 arthrogryposis, distal, type 5 9.3 MYH8 MYH6 MYH3 MYH2
48 clubfoot 8.9 MYH8 MYH3 MYH2
49 distal arthrogryposis 8.9 MYH8 MYH6 MYH3 MYH2 ADSS1

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 28)
# 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 myalgia 58 31 frequent (33%) Frequent (79-30%) HP:0003326
6 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
7 type 1 muscle fiber predominance 58 31 frequent (33%) Frequent (79-30%) HP:0003803
8 abnormal mitochondria in muscle tissue 58 31 frequent (33%) Frequent (79-30%) HP:0008316
9 minicore myopathy 58 31 frequent (33%) Frequent (79-30%) HP:0003789
10 distal muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0002460
11 abnormality of the calf musculature 58 31 frequent (33%) Frequent (79-30%) HP:0001430
12 progressive muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003323
13 neck muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0000467
14 talipes cavus equinovarus 58 31 frequent (33%) Frequent (79-30%) HP:0004696
15 weakness of orbicularis oculi muscle 58 31 frequent (33%) Frequent (79-30%) HP:0012507
16 mildly elevated creatine kinase 31 frequent (33%) HP:0008180
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 ragged-red muscle fibers 31 HP:0003200
23 facial palsy 31 HP:0010628
24 pes cavus 31 HP:0001761
25 mildly elevated creatine phosphokinase 58 Frequent (79-30%)
26 weakness of long finger extensor muscles 31 HP:0009077
27 emg: neuropathic changes 31 HP:0003445
28 amyotrophy of ankle musculature 31 HP:0009031

Symptoms via clinical synopsis from OMIM:

56
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

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, Heart

Publications for Myopathy, Distal, 1

Articles related to Myopathy, Distal, 1:

(show all 49)
# Title Authors PMID Year
1
MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy. 61 24 56 6
20733148 2010
2
An autosomal dominant early adult-onset distal muscular dystrophy. 56 61 6 24
11102913 2000
3
New skeletal myopathy and cardiomyopathy associated with a missense mutation in MYH7. 24 6 56
17548557 2007
4
Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1). 56 24 6
15322983 2004
5
The second kindred with autosomal dominant distal myopathy linked to chromosome 14q: genetic and clinical analysis. 56 6 24
12975303 2003
6
Spanish MYH7 founder mutation of Italian ancestry causing a large cluster of Laing myopathy patients. 6 56
21395566 2012
7
Autosomal dominant distal myopathy: further evidence of a chromosome 14 locus. 56 6
11166161 2001
8
Laing Distal Myopathy 61 6
20301606 2006
9
A novel MYH7 mutation with prominent paraspinal and proximal muscle involvement. 24 61
23707328 2013
10
Early onset chromosome 14-linked distal myopathy (Laing). 56
12062252 2002
11
Infantile autosomal dominant distal myopathy. 56
7484058 1995
12
Autosomal dominant distal myopathy: linkage to chromosome 14. 56
7847377 1995
13
A Lecture on Myopathy and a Distal Form: Delivered at the National Hospital for the Paralysed and Epileptic. 56
20760370 1902
14
Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy. 24
24664454 2014
15
Distal myopathies. 24
24477389 2014
16
Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1. 24
23401021 2013
17
Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement. 24
22784669 2012
18
A mutation in the beta-myosin rod associated with hypertrophic cardiomyopathy has an unexpected molecular phenotype. 24
19913502 2010
19
165th ENMC International Workshop: distal myopathies 6-8th February 2009 Naarden, The Netherlands. 24
19477645 2009
20
MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy. 24
17336526 2007
21
Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy. 24
16103042 2006
22
Distal myopathies. 24
16155432 2005
23
Identification of a locus for an autosomal recessive hyaline body myopathy at chromosome 3p22.2-p21.32. 24
14659406 2004
24
Welander distal myopathy outside the Swedish population: phenotype and genotype. 24
12117477 2002
25
A novel MYH7 mutation resulting in Laing distal myopathy in a Chinese family. 61
30897599 2019
26
A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain. 61
30166250 2018
27
Drosophila model of myosin myopathy rescued by overexpression of a TRIM-protein family member. 61
29946036 2018
28
Research progress of myosin heavy chain genes in human genetic diseases. 61
29070483 2017
29
Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report. 61
28927399 2017
30
Laing distal myopathy with a novel mutation in exon 34 of the MYH7 gene. 61
27469267 2016
31
Two novel MYH7 proline substitutions cause Laing Distal Myopathy-like phenotypes with variable expressivity and neck extensor contracture. 61
27519903 2016
32
Distal myopathy with coexisting heterozygous TIA1 and MYH7 Variants. 61
27282841 2016
33
MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients. 61
27387980 2016
34
Two families with MYH7 distal myopathy associated with cardiomyopathy and core formations. 61
25695922 2015
35
A novel MYH7 Leu1453pro mutation resulting in Laing distal myopathy in an Irish family. 61
25447691 2015
36
A rare mutation in MYH7 gene occurs with overlapping phenotype. 61
25576864 2015
37
A de novo mutation of the MYH7 gene in a large Chinese family with autosomal dominant myopathy. 61
27081534 2015
38
Laing distal myopathy pathologically resembling inclusion body myositis. 61
25574480 2014
39
Exome sequencing identifies Laing distal myopathy MYH7 mutation in a Roma family previously diagnosed with distal neuronopathy. 61
24300783 2014
40
A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies. 61
23478172 2013
41
Myosinopathies: pathology and mechanisms. 61
22918376 2013
42
New phenotype and pathology features in MYH7-related distal myopathy. 61
22521714 2012
43
Effects of pathogenic proline mutations on myosin assembly. 61
22155079 2012
44
A novel MYH7 mutation occurring independently in French and Norwegian Laing distal myopathy families and de novo in one Finnish patient. 61
21279644 2011
45
Clinical utility gene card for: Laing distal myopathy. 61
21150886 2011
46
[Screening and analysis of the mutations on beta-myosin heavy chain gene in 3 Chinese families with hypertrophic cardiomyopathy]. 61
21426742 2011
47
Thick filament diseases. 61
19181095 2008
48
Symptomatic distal myopathy with cardiomyopathy due to a MYH7 mutation. 61
17383184 2007
49
Hereditary myosin myopathies. 61
17434305 2007

Variations for Myopathy, Distal, 1

ClinVar genetic disease variations for Myopathy, Distal, 1:

6 (show top 50) (show all 190) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MYH7 NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp)SNV Pathogenic 14102 rs3218714 14:23898488-23898488 14:23429279-23429279
2 MYH7 NM_000257.4(MYH7):c.4499G>C (p.Arg1500Pro)SNV Pathogenic 14115 rs121913647 14:23886382-23886382 14:23417173-23417173
3 MYH7 NM_000257.4(MYH7):c.5177_5179AGA[3] (p.Lys1729del)short repeat Pathogenic 42096 rs367543052 14:23884685-23884687 14:23415476-23415478
4 MYH7 NM_000257.4(MYH7):c.2717A>G (p.Asp906Gly)SNV Pathogenic 14125 rs267606908 14:23893321-23893321 14:23424112-23424112
5 MYH7 NM_000257.4(MYH7):c.1988G>A (p.Arg663His)SNV Pathogenic 42875 rs371898076 14:23896042-23896042 14:23426833-23426833
6 MYH7 NM_000257.3(MYH7):c.4522_4524delGAG (p.Glu1508del)short repeat Pathogenic 43023 rs397516220 14:23886197-23886199 14:23416988-23416990
7 MYH7 NM_000257.4(MYH7):c.4622A>C (p.Gln1541Pro)SNV Pathogenic 143210 rs587779389 14:23886099-23886099 14:23416890-23416890
8 MYH7 NM_000257.4(MYH7):c.4823G>C (p.Arg1608Pro)SNV Pathogenic 143212 rs587779391 14:23885343-23885343 14:23416134-23416134
9 MYH7 NM_000257.4(MYH7):c.4795A>C (p.Thr1599Pro)SNV Pathogenic 143211 rs587779390 14:23885371-23885371 14:23416162-23416162
10 MYH7 NM_000257.4(MYH7):c.4442T>C (p.Leu1481Pro)SNV Pathogenic 143209 rs587779414 14:23886439-23886439 14:23417230-23417230
11 MYH7 NM_000257.4(MYH7):c.5177_5179AGA[5] (p.Lys1729dup)short repeat Pathogenic 143217 rs367543052 14:23884684-23884685 14:23415475-23415476
12 MYH7 NM_000257.4(MYH7):c.5378_5380del (p.Leu1793del)deletion Pathogenic 143218 rs587779396 14:23884383-23884385 14:23415174-23415176
13 MYH7 NM_000257.4(MYH7):c.4906G>C (p.Ala1636Pro)SNV Pathogenic 143219 rs587779415 14:23885260-23885260 14:23416051-23416051
14 MYH7 NM_000257.4(MYH7):c.4937T>C (p.Leu1646Pro)SNV Pathogenic 143214 rs587779393 14:23885229-23885229 14:23416020-23416020
15 MYH7 NM_000257.4(MYH7):c.4985G>C (p.Arg1662Pro)SNV Pathogenic 143215 rs370328209 14:23885010-23885010 14:23415801-23415801
16 MYH7 NM_000257.4(MYH7):c.5566G>A (p.Glu1856Lys)SNV Pathogenic 190403 rs797044598 14:23883305-23883305 14:23414096-23414096
17 MYH7 NM_000257.4(MYH7):c.5117T>C (p.Leu1706Pro)SNV Pathogenic 190409 rs797044602 14:23884878-23884878 14:23415669-23415669
18 MYH7 NM_000257.4(MYH7):c.4987G>C (p.Ala1663Pro)SNV Pathogenic 190408 rs797044601 14:23885008-23885008 14:23415799-23415799
19 MYH7 NM_000257.4(MYH7):c.4844_4846AGA[2] (p.Lys1617del)short repeat Pathogenic 190401 rs121913648 14:23885314-23885316 14:23416105-23416107
20 MYH7 NM_000257.4(MYH7):c.4763G>C (p.Arg1588Pro)SNV Pathogenic 190405 rs797044600 14:23885403-23885403 14:23416194-23416194
21 MYH7 NM_000257.4(MYH7):c.4315G>C (p.Ala1439Pro)SNV Pathogenic 190404 rs797044599 14:23886750-23886750 14:23417541-23417541
22 MYH7 NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln)SNV Pathogenic/Likely pathogenic 164312 rs397516171 14:23893250-23893250 14:23424041-23424041
23 MYH7 NM_000257.4(MYH7):c.715G>A (p.Asp239Asn)SNV Pathogenic/Likely pathogenic 43100 rs397516264 14:23900811-23900811 14:23431602-23431602
24 MYH7 NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr)SNV Pathogenic/Likely pathogenic 42901 rs3218716 14:23894525-23894525 14:23425316-23425316
25 MYH7 NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys)SNV Pathogenic/Likely pathogenic 42874 rs397516127 14:23896043-23896043 14:23426834-23426834
26 MYH7 NM_000257.4(MYH7):c.746G>A (p.Arg249Gln)SNV Pathogenic/Likely pathogenic 14088 rs3218713 14:23900677-23900677 14:23431468-23431468
27 MYH7 NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys)SNV Pathogenic/Likely pathogenic 14092 rs121913628 14:23893268-23893268 14:23424059-23424059
28 MYH7 NM_000257.4(MYH7):c.5560-2A>CSNV Likely pathogenic 562179 rs1566521710 14:23883313-23883313 14:23414104-23414104
29 MYH7 NM_000257.4(MYH7):c.5740G>A (p.Glu1914Lys)SNV Likely pathogenic 43088 rs397516254 14:23883018-23883018 14:23413809-23413809
30 MYH7 NM_000257.4(MYH7):c.5401G>A (p.Glu1801Lys)SNV Likely pathogenic 43069 rs397516248 14:23884362-23884362 14:23415153-23415153
31 MYH7 NM_000257.4(MYH7):c.2804A>T (p.Glu935Val)SNV Likely pathogenic 181207 rs730880761 14:23893234-23893234 14:23424025-23424025
32 MYH7 NM_000257.4(MYH7):c.1544T>C (p.Met515Thr)SNV Likely pathogenic 216968 rs863224900 14:23897743-23897743 14:23428534-23428534
33 MYH7 NM_000257.4(MYH7):c.4807G>C (p.Ala1603Pro)SNV Likely pathogenic 190407 rs730880809 14:23885359-23885359 14:23416150-23416150
34 MYH7 NM_000257.4(MYH7):c.4772T>C (p.Leu1591Pro)SNV Likely pathogenic 190406 rs730880808 14:23885394-23885394 14:23416185-23416185
35 MYH7 NM_000257.4(MYH7):c.*105T>CSNV Conflicting interpretations of pathogenicity 312888 rs200550717 14:23881958-23881958 14:23412749-23412749
36 MYH7 NM_000257.4(MYH7):c.4908C>T (p.Ala1636=)SNV Conflicting interpretations of pathogenicity 312893 rs150241539 14:23885258-23885258 14:23416049-23416049
37 MYH7 NM_000257.4(MYH7):c.4410G>A (p.Ser1470=)SNV Conflicting interpretations of pathogenicity 312896 rs578166720 14:23886471-23886471 14:23417262-23417262
38 MYH7 NM_000257.4(MYH7):c.4158C>T (p.Leu1386=)SNV Conflicting interpretations of pathogenicity 312899 rs886050418 14:23887430-23887430 14:23418221-23418221
39 MYH7 NM_000257.4(MYH7):c.3148C>A (p.Arg1050=)SNV Conflicting interpretations of pathogenicity 312902 rs730880767 14:23891486-23891486 14:23422277-23422277
40 MYH7 NM_000257.4(MYH7):c.2692C>T (p.Leu898=)SNV Conflicting interpretations of pathogenicity 312909 rs727504407 14:23893346-23893346 14:23424137-23424137
41 MYH7 NM_000257.4(MYH7):c.2526T>C (p.Ser842=)SNV Conflicting interpretations of pathogenicity 181161 rs554560162 14:23894131-23894131 14:23424922-23424922
42 MYH7 NM_000257.4(MYH7):c.2080C>T (p.Arg694Cys)SNV Conflicting interpretations of pathogenicity 177627 rs727504240 14:23895255-23895255 14:23426046-23426046
43 MYH7 NM_000257.4(MYH7):c.5243G>A (p.Cys1748Tyr)SNV Conflicting interpretations of pathogenicity 180440 rs200303340 14:23884630-23884630 14:23415421-23415421
44 MYH7 NM_000257.4(MYH7):c.5726G>A (p.Arg1909Gln)SNV Conflicting interpretations of pathogenicity 181290 rs397516253 14:23883032-23883032 14:23413823-23413823
45 MYH7 NM_000257.4(MYH7):c.976G>C (p.Ala326Pro)SNV Conflicting interpretations of pathogenicity 43117 rs372731424 14:23899792-23899792 14:23430583-23430583
46 MYH7 NM_000257.4(MYH7):c.3235C>T (p.Arg1079Trp)SNV Conflicting interpretations of pathogenicity 164304 rs192722540 14:23891399-23891399 14:23422190-23422190
47 MYH7 NM_000257.4(MYH7):c.4557C>T (p.Ser1519=)SNV Conflicting interpretations of pathogenicity 178081 rs150552664 14:23886164-23886164 14:23416955-23416955
48 MYH7 NM_000257.4(MYH7):c.1141G>A (p.Ala381Thr)SNV Conflicting interpretations of pathogenicity 179272 rs727504753 14:23898554-23898554 14:23429345-23429345
49 MYH7 NM_000257.4(MYH7):c.350A>T (p.Tyr117Phe)SNV Conflicting interpretations of pathogenicity 179242 rs201012865 14:23902000-23902000 14:23432791-23432791
50 MYH7 NM_000257.4(MYH7):c.28G>C (p.Gly10Arg)SNV Conflicting interpretations of pathogenicity 177741 rs199577321 14:23902914-23902914 14:23433705-23433705

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

73
# 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:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.69 MYH8 MYH7 MYH6 MYH3 MYH2
2
Show member pathways
12.68 MYH8 MYH7 MYH6 MYH3 MYH2
3
Show member pathways
12.28 MYH8 MYH7 MYH6 MYH3 MYH2
4
Show member pathways
12.03 MYH8 MYH7 MYH6 MYH3 MYH2
5
Show member pathways
11.94 PDCD1LG2 PDCD1 ICOSLG CD274
6
Show member pathways
11.9 MYH8 MYH7 MYH6 MYH3 MYH2
7 11.84 PDCD1LG2 PDCD1 ICOSLG CD274
8
Show member pathways
11.69 PDCD1LG2 PDCD1 CD274
9 11.47 MYH8 MYH6 MYH3
10 10.9 MYH8 MYH7 MYH6 MYH3 MYH2
11 10.81 MYH8 MYH7 MYH6 MYH3 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 9.72 MYH8 MYH7 MYH6 MYH3 MYH2
2 myosin complex GO:0016459 9.65 MYH8 MYH7 MYH6 MYH3 MYH2
3 myofibril GO:0030016 9.55 MYH8 MYH7 MYH6 MYH3 MYH2
4 myosin filament GO:0032982 9.35 MYH8 MYH7 MYH6 MYH3 MYH2
5 muscle myosin complex GO:0005859 9.02 MYH8 MYH7 MYH6 MYH3 MYH2

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.85 PDCD1LG2 PDCD1 MATR3 ICOSLG CD274 ADSS1
2 muscle contraction GO:0006936 9.62 MYH8 MYH7 MYH6 MYH2
3 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.54 MYH7 MYH6
4 actin filament-based movement GO:0030048 9.52 MYH6 MYH3
5 regulation of the force of heart contraction GO:0002026 9.51 MYH7 MYH6
6 striated muscle contraction GO:0006941 9.49 MYH7 MYH6
7 negative regulation of activated T cell proliferation GO:0046007 9.48 PDCD1LG2 CD274
8 negative regulation of interleukin-10 production GO:0032693 9.46 PDCD1LG2 CD274
9 T cell costimulation GO:0031295 9.46 PDCD1LG2 PDCD1 ICOSLG CD274
10 cardiac muscle hypertrophy in response to stress GO:0014898 9.43 MYH7 MYH6
11 skeletal muscle contraction GO:0003009 9.43 MYH8 MYH7 MYH3
12 adult heart development GO:0007512 9.4 MYH7 MYH6
13 ATP metabolic process GO:0046034 9.26 MYH8 MYH7 MYH6 MYH3
14 muscle filament sliding GO:0030049 9.02 MYH8 MYH7 MYH6 MYH3 MYH2

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

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.77 MYH8 MYH7 MYH6 MYH3 MYH2
2 calmodulin binding GO:0005516 9.72 MYH8 MYH7 MYH6 MYH3 MYH2
3 ATPase activity GO:0016887 9.71 MYH8 MYH7 MYH6 MYH3
4 motor activity GO:0003774 9.65 MYH8 MYH7 MYH6 MYH3 MYH2
5 actin filament binding GO:0051015 9.63 MYH8 MYH7 MYH6 MYH3 MYH2 ADSS1
6 actin-dependent ATPase activity GO:0030898 9.43 MYH7 MYH6
7 myosin phosphatase activity GO:0017018 9.13 MYH8 MYH6 MYH3
8 microfilament motor activity GO:0000146 9.02 MYH8 MYH7 MYH6 MYH3 MYH2

Sources for Myopathy, Distal, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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