MCID: MYP125
MIFTS: 43

Myopathy, Distal, 1

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Myopathy, Distal, 1

MalaCards integrated aliases for Myopathy, Distal, 1:

Name: Myopathy, Distal, 1 57 75 29 6
Laing Distal Myopathy 57 24 53 25 75 37 13
Laing Early-Onset Distal Myopathy 24 53 25 59 75
Mpd1 57 25 59 75
Distal Myopathy 1 25 75
Myopathy, Distal, Early-Onset, Autosomal Dominant 57
Myopathy Distal Early-Onset Autosomal Dominant 75
Myopathy, Late Distal Hereditary 57
Myopathy Late Distal Hereditary 75
Welander Distal Myopathy 73
Myopathy, Distal, Type 1 40
Myopathy Distal, Type 1 53
Distal Myopathy Type 1 59
Gowers Disease 59

Characteristics:

Orphanet epidemiological data:

59
laing early-onset distal myopathy
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32

GeneReviews:

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

Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Myopathy, Distal, 1

NIH Rare Diseases : 53 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. 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.

MalaCards based summary : Myopathy, Distal, 1, also known as laing distal myopathy, is related to cardiomyopathy, familial hypertrophic, 1 and familial isolated dilated cardiomyopathy, 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 RhoGDI Pathway and Immune response CCR3 signaling in eosinophils. The drugs Silicon and Micronutrients have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, and related phenotypes are high palate and gait disturbance

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.

UniProtKB/Swiss-Prot : 75 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.

Description from OMIM: 160500
GeneReviews: NBK1433

Related Diseases for Myopathy, Distal, 1

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



Diseases related to Myopathy, Distal, 1

Symptoms & Phenotypes for Myopathy, Distal, 1

Symptoms via clinical synopsis from OMIM:

57
Skeletal Spine:
scoliosis

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 Mouth:
high-arched palate

Cardiovascular Heart:
dilated cardiomyopathy may occur

Skeletal Feet:
pes cavus

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

Human phenotypes related to Myopathy, Distal, 1:

32 (show all 17)
# Description HPO Frequency HPO Source Accession
1 high palate 32 HP:0000218
2 gait disturbance 32 HP:0001288
3 scoliosis 32 HP:0002650
4 facial palsy 32 HP:0010628
5 pes cavus 32 HP:0001761
6 ragged-red muscle fibers 32 HP:0003200
7 myalgia 32 HP:0003326
8 type 1 muscle fiber predominance 32 HP:0003803
9 mildly elevated creatine phosphokinase 32 HP:0008180
10 dilated cardiomyopathy 32 occasional (7.5%) HP:0001644
11 amyotrophy of ankle musculature 32 HP:0009031
12 neck muscle weakness 32 HP:0000467
13 distal muscle weakness 32 HP:0002460
14 proximal muscle weakness 32 occasional (7.5%) HP:0003701
15 weakness of long finger extensor muscles 32 HP:0009077
16 emg 32 HP:0003445
17 toe extensor amyotrophy 32 HP:0011916

UMLS symptoms related to Myopathy, Distal, 1:


myalgia

Drugs & Therapeutics for Myopathy, Distal, 1

Drugs for Myopathy, Distal, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Silicon Approved, Investigational Not Applicable 7440-21-3 4082203
2 Micronutrients Not Applicable
3 Pharmaceutical Solutions Not Applicable
4 Trace Elements Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Case Control Study of the Prevalence of Pulmonary Hypertension in Patients With Myeloproliferative Diseases. Unknown status NCT01884974
2 The Clinical and Subjective Performance of Three Different MPDS With Silicon Hydrogel Lenses Completed NCT01665612 Not Applicable

Search 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:

41
Skeletal Muscle

Publications for Myopathy, Distal, 1

Articles related to Myopathy, Distal, 1:

# Title Authors Year
1
Laing distal myopathy with a novel mutation in exon 34 of the MYH7 gene. ( 27469267 )
2016
2
Two novel MYH7 proline substitutions cause Laing Distal Myopathy-like phenotypes with variable expressivity and neck extensor contracture. ( 27519903 )
2016
3
A novel MYH7 Leu1453pro mutation resulting in Laing distal myopathy in an Irish family. ( 25447691 )
2015
4
Laing distal myopathy pathologically resembling inclusion body myositis. ( 25574480 )
2014
5
Exome sequencing identifies Laing distal myopathy MYH7 mutation in a Roma family previously diagnosed with distal neuronopathy. ( 24300783 )
2013
6
A novel MYH7 mutation occurring independently in French and Norwegian Laing distal myopathy families and de novo in one Finnish patient. ( 21279644 )
2011
7
Clinical utility gene card for: Laing distal myopathy. ( 21150886 )
2011
8
MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy. ( 20733148 )
2010
9
Laing Distal Myopathy ( 20301606 )
1993

Variations for Myopathy, Distal, 1

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

75
# 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

ClinVar genetic disease variations for Myopathy, Distal, 1:

6
(show top 50) (show all 158)
# Gene Variation Type Significance SNP ID Assembly Location
1 MYH7 NM_000257.3(MYH7): c.1207C> T (p.Arg403Trp) single nucleotide variant Pathogenic rs3218714 GRCh37 Chromosome 14, 23898488: 23898488
2 MYH7 NM_000257.3(MYH7): c.1207C> T (p.Arg403Trp) single nucleotide variant Pathogenic rs3218714 GRCh38 Chromosome 14, 23429279: 23429279
3 MYH7 NM_000257.3(MYH7): c.4499G> C (p.Arg1500Pro) single nucleotide variant Pathogenic rs121913647 GRCh37 Chromosome 14, 23886382: 23886382
4 MYH7 NM_000257.3(MYH7): c.4499G> C (p.Arg1500Pro) single nucleotide variant Pathogenic rs121913647 GRCh38 Chromosome 14, 23417173: 23417173
5 MYH7 NM_000257.3(MYH7): c.5186_5188delAGA (p.Lys1729del) deletion Pathogenic rs367543052 GRCh37 Chromosome 14, 23884685: 23884687
6 MYH7 NM_000257.3(MYH7): c.5186_5188delAGA (p.Lys1729del) deletion Pathogenic rs367543052 GRCh38 Chromosome 14, 23415476: 23415478
7 MYH7 NM_000257.3(MYH7): c.1987C> T (p.Arg663Cys) single nucleotide variant Pathogenic/Likely pathogenic rs397516127 GRCh37 Chromosome 14, 23896043: 23896043
8 MYH7 NM_000257.3(MYH7): c.1987C> T (p.Arg663Cys) single nucleotide variant Pathogenic/Likely pathogenic rs397516127 GRCh38 Chromosome 14, 23426834: 23426834
9 MYH7 NM_000257.3(MYH7): c.1988G> A (p.Arg663His) single nucleotide variant Pathogenic rs371898076 GRCh37 Chromosome 14, 23896042: 23896042
10 MYH7 NM_000257.3(MYH7): c.1988G> A (p.Arg663His) single nucleotide variant Pathogenic rs371898076 GRCh38 Chromosome 14, 23426833: 23426833
11 MYH7 NM_000257.3(MYH7): c.2389G> A (p.Ala797Thr) single nucleotide variant Pathogenic/Likely pathogenic rs3218716 GRCh37 Chromosome 14, 23894525: 23894525
12 MYH7 NM_000257.3(MYH7): c.2389G> A (p.Ala797Thr) single nucleotide variant Pathogenic/Likely pathogenic rs3218716 GRCh38 Chromosome 14, 23425316: 23425316
13 MYH7 NM_000257.3(MYH7): c.4522_4524delGAG (p.Glu1508del) deletion Pathogenic rs397516220 GRCh37 Chromosome 14, 23886197: 23886199
14 MYH7 NM_000257.3(MYH7): c.4522_4524delGAG (p.Glu1508del) deletion Pathogenic rs397516220 GRCh38 Chromosome 14, 23416988: 23416990
15 MYH7 NM_000257.3(MYH7): c.5401G> A (p.Glu1801Lys) single nucleotide variant Likely pathogenic rs397516248 GRCh37 Chromosome 14, 23884362: 23884362
16 MYH7 NM_000257.3(MYH7): c.5401G> A (p.Glu1801Lys) single nucleotide variant Likely pathogenic rs397516248 GRCh38 Chromosome 14, 23415153: 23415153
17 MYH7 NM_000257.3(MYH7): c.5740G> A (p.Glu1914Lys) single nucleotide variant Likely pathogenic rs397516254 GRCh37 Chromosome 14, 23883018: 23883018
18 MYH7 NM_000257.3(MYH7): c.5740G> A (p.Glu1914Lys) single nucleotide variant Likely pathogenic rs397516254 GRCh38 Chromosome 14, 23413809: 23413809
19 MYH7 NM_000257.3(MYH7): c.4795A> C (p.Thr1599Pro) single nucleotide variant Pathogenic rs587779390 GRCh37 Chromosome 14, 23885371: 23885371
20 MYH7 NM_000257.3(MYH7): c.4823G> C (p.Arg1608Pro) single nucleotide variant Pathogenic rs587779391 GRCh38 Chromosome 14, 23416134: 23416134
21 MYH7 NM_000257.3(MYH7): c.4795A> C (p.Thr1599Pro) single nucleotide variant Pathogenic rs587779390 GRCh38 Chromosome 14, 23416162: 23416162
22 MYH7 NM_000257.3(MYH7): c.4823G> C (p.Arg1608Pro) single nucleotide variant Pathogenic rs587779391 GRCh37 Chromosome 14, 23885343: 23885343
23 MYH7 NM_000257.3(MYH7): c.4622A> C (p.Gln1541Pro) single nucleotide variant Pathogenic rs587779389 GRCh37 Chromosome 14, 23886099: 23886099
24 MYH7 NM_000257.3(MYH7): c.4622A> C (p.Gln1541Pro) single nucleotide variant Pathogenic rs587779389 GRCh38 Chromosome 14, 23416890: 23416890
25 MYH7 NM_000257.3(MYH7): c.4442T> C (p.Leu1481Pro) single nucleotide variant Pathogenic rs587779414 GRCh37 Chromosome 14, 23886439: 23886439
26 MYH7 NM_000257.3(MYH7): c.4442T> C (p.Leu1481Pro) single nucleotide variant Pathogenic rs587779414 GRCh38 Chromosome 14, 23417230: 23417230
27 MYH7 NM_000257.3(MYH7): c.4937T> C (p.Leu1646Pro) single nucleotide variant Pathogenic rs587779393 GRCh37 Chromosome 14, 23885229: 23885229
28 MYH7 NM_000257.3(MYH7): c.4937T> C (p.Leu1646Pro) single nucleotide variant Pathogenic rs587779393 GRCh38 Chromosome 14, 23416020: 23416020
29 MYH7 NM_000257.3(MYH7): c.4985G> C (p.Arg1662Pro) single nucleotide variant Pathogenic rs370328209 GRCh37 Chromosome 14, 23885010: 23885010
30 MYH7 NM_000257.3(MYH7): c.4985G> C (p.Arg1662Pro) single nucleotide variant Pathogenic rs370328209 GRCh38 Chromosome 14, 23415801: 23415801
31 MYH7 NM_000257.3(MYH7): c.5005_5007delGAG (p.Glu1669del) deletion Pathogenic rs587779394 GRCh37 Chromosome 14, 23884988: 23884990
32 MYH7 NM_000257.3(MYH7): c.5005_5007delGAG (p.Glu1669del) deletion Pathogenic rs587779394 GRCh38 Chromosome 14, 23415779: 23415781
33 MYH7 NM_000257.3(MYH7): c.5186_5188dupAGA (p.Lys1729_Met1730insLys) duplication Pathogenic rs587779395 GRCh37 Chromosome 14, 23884685: 23884687
34 MYH7 NM_000257.3(MYH7): c.5186_5188dupAGA (p.Lys1729_Met1730insLys) duplication Pathogenic rs587779395 GRCh38 Chromosome 14, 23415476: 23415478
35 MYH7 NM_000257.3(MYH7): c.5378_5380delTGC (p.Leu1793del) deletion Pathogenic rs587779396 GRCh37 Chromosome 14, 23884383: 23884385
36 MYH7 NM_000257.3(MYH7): c.5378_5380delTGC (p.Leu1793del) deletion Pathogenic rs587779396 GRCh38 Chromosome 14, 23415174: 23415176
37 MYH7 NM_000257.3(MYH7): c.4906G> C (p.Ala1636Pro) single nucleotide variant Pathogenic rs587779415 GRCh37 Chromosome 14, 23885260: 23885260
38 MYH7 NM_000257.3(MYH7): c.4906G> C (p.Ala1636Pro) single nucleotide variant Pathogenic rs587779415 GRCh38 Chromosome 14, 23416051: 23416051
39 MYH7 NM_000257.3(MYH7): c.5279C> T (p.Thr1760Met) single nucleotide variant Uncertain significance rs727505294 GRCh37 Chromosome 14, 23884594: 23884594
40 MYH7 NM_000257.3(MYH7): c.5279C> T (p.Thr1760Met) single nucleotide variant Uncertain significance rs727505294 GRCh38 Chromosome 14, 23415385: 23415385
41 MYH7 NM_000257.3(MYH7): c.5287G> A (p.Ala1763Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs727504355 GRCh37 Chromosome 14, 23884476: 23884476
42 MYH7 NM_000257.3(MYH7): c.5287G> A (p.Ala1763Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs727504355 GRCh38 Chromosome 14, 23415267: 23415267
43 MYH7 NM_000257.3(MYH7): c.3235C> T (p.Arg1079Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs192722540 GRCh37 Chromosome 14, 23891399: 23891399
44 MYH7 NM_000257.3(MYH7): c.3235C> T (p.Arg1079Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs192722540 GRCh38 Chromosome 14, 23422190: 23422190
45 MYH7 NM_000257.3(MYH7): c.2788G> C (p.Glu930Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397516171 GRCh37 Chromosome 14, 23893250: 23893250
46 MYH7 NM_000257.3(MYH7): c.2788G> C (p.Glu930Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397516171 GRCh38 Chromosome 14, 23424041: 23424041
47 MYH7 NM_000257.3(MYH7): c.5726G> A (p.Arg1909Gln) single nucleotide variant Uncertain significance rs397516253 GRCh37 Chromosome 14, 23883032: 23883032
48 MYH7 NM_000257.3(MYH7): c.5726G> A (p.Arg1909Gln) single nucleotide variant Uncertain significance rs397516253 GRCh38 Chromosome 14, 23413823: 23413823
49 MYH7 NM_000257.3(MYH7): c.5606A> G (p.Asp1869Gly) single nucleotide variant Uncertain significance rs730880824 GRCh38 Chromosome 14, 23414056: 23414056
50 MYH7 NM_000257.3(MYH7): c.5606A> G (p.Asp1869Gly) single nucleotide variant Uncertain significance rs730880824 GRCh37 Chromosome 14, 23883265: 23883265

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
11.75 MYH6 MYH7
2
Show member pathways
11.66 MYH6 MYH7
3
Show member pathways
11.39 MYH6 MYH7
4 10.85 MYH6 MYH7
5 10.8 MYH6 MYH7
6 10.42 MYH6 MYH7

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 Z disc GO:0030018 9.4 MYH6 MYH7
2 myosin complex GO:0016459 9.37 MYH6 MYH7
3 stress fiber GO:0001725 9.32 MYH6 MYH7
4 sarcomere GO:0030017 9.26 MYH6 MYH7
5 myofibril GO:0030016 9.16 MYH6 MYH7
6 muscle myosin complex GO:0005859 8.96 MYH6 MYH7
7 myosin filament GO:0032982 8.62 MYH6 MYH7

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 microtubule-based movement GO:0007018 9.51 MYH6 MYH7
2 muscle contraction GO:0006936 9.49 MYH6 MYH7
3 cardiac muscle contraction GO:0060048 9.48 MYH6 MYH7
4 ATP metabolic process GO:0046034 9.46 MYH6 MYH7
5 muscle filament sliding GO:0030049 9.43 MYH6 MYH7
6 regulation of heart rate GO:0002027 9.4 MYH6 MYH7
7 striated muscle contraction GO:0006941 9.37 MYH6 MYH7
8 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.32 MYH6 MYH7
9 regulation of the force of heart contraction GO:0002026 9.26 MYH6 MYH7
10 adult heart development GO:0007512 9.16 MYH6 MYH7
11 cardiac muscle hypertrophy in response to stress GO:0014898 8.96 MYH6 MYH7
12 transition between fast and slow fiber GO:0014883 8.62 MIR208B MYH7

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

# Name GO ID Score Top Affiliating Genes
1 microtubule binding GO:0008017 9.43 MYH6 MYH7
2 ATPase activity GO:0016887 9.4 MYH6 MYH7
3 calmodulin binding GO:0005516 9.37 MYH6 MYH7
4 actin filament binding GO:0051015 9.32 MYH6 MYH7
5 microtubule motor activity GO:0003777 9.26 MYH6 MYH7
6 motor activity GO:0003774 9.16 MYH6 MYH7
7 microfilament motor activity GO:0000146 8.96 MYH6 MYH7
8 actin-dependent ATPase activity GO:0030898 8.62 MYH6 MYH7

Sources for Myopathy, Distal, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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