MPD1
MCID: LNG041
MIFTS: 28

Laing Distal Myopathy (MPD1) malady

Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases categories
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Summaries for Laing Distal Myopathy

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NIH Rare Diseases:42 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. last updated: 4/1/2011

MalaCards based summary: Laing Distal Myopathy, also known as laing early-onset distal myopathy, is related to myopathy, and has symptoms including An important gene associated with Laing Distal Myopathy is MYH7 (myosin, heavy chain 7, cardiac muscle, beta). Affiliated tissues include skeletal muscle.

Genetics Home Reference:21 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.

Description from OMIM:46 160500

GeneReviews summary for mpd1

Aliases & Classifications for Laing Distal Myopathy

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Laing Distal Myopathy, Aliases & Descriptions:

Name: Laing Distal Myopathy 19 42 20 21 46 62
Laing Early-Onset Distal Myopathy 19 42 21 48 62
Myopathy Distal, Type 1 42 22
Mpd1 21 48
Distal Muscular Dystrophies 62
 
Welander Distal Myopathy 62
Distal Myopathy Type 1 48
Distal Myopathy 1 21
Gowers Disease 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Muscle diseases


Characteristics (Orphanet epidemiological data):

48
laing early-onset distal myopathy:
Inheritance: Autosomal dominant; Age of onset: Childhood


External Ids:

OMIM46 160500
ICD10 via Orphanet26 G71.0

Related Diseases for Laing Distal Myopathy

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Diseases related to Laing Distal Myopathy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1myopathy10.6

Symptoms for Laing Distal Myopathy

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Symptoms by clinical synopsis from OMIM:

160500

Clinical features from OMIM:

160500

HPO human phenotypes related to Laing Distal Myopathy:

(show all 23)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 high palate HP:0000218
3 neck muscle weakness HP:0000467
4 gait disturbance HP:0001288
5 dilated cardiomyopathy HP:0001644
6 pes cavus HP:0001761
7 distal muscle weakness HP:0002460
8 scoliosis HP:0002650
9 ragged-red muscle fibers HP:0003200
10 elevated serum creatine phosphokinase HP:0003236
11 myalgia HP:0003326
12 emg HP:0003445
13 infantile onset HP:0003593
14 slow progression HP:0003677
15 proximal muscle weakness HP:0003701
16 type 1 muscle fiber predominance HP:0003803
17 phenotypic variability HP:0003812
18 mildly elevated creatine phosphokinase HP:0008180
19 amyotrophy of ankle musculature HP:0009031
20 weakness of long finger extensor muscles HP:0009077
21 facial palsy HP:0010628
22 childhood onset HP:0011463
23 toe extensor amyotrophy HP:0011916

Drugs & Therapeutics for Laing Distal Myopathy

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Drug clinical trials:

Search ClinicalTrials for Laing Distal Myopathy

Search NIH Clinical Center for Laing Distal Myopathy

Genetic Tests for Laing Distal Myopathy

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Genetic tests related to Laing Distal Myopathy:

id Genetic test Affiliating Genes
1 Laing Distal Myopathy20 MYH7
2 Myopathy, Distal, 122

Anatomical Context for Laing Distal Myopathy

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MalaCards organs/tissues related to Laing Distal Myopathy:

32
Skeletal muscle

Animal Models for Laing Distal Myopathy or affiliated genes

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Publications for Laing Distal Myopathy

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Articles related to Laing Distal Myopathy:

idTitleAuthorsYear
1
Exome sequencing identifies Laing distal myopathy MYH7 mutation in a Roma family previously diagnosed with distal neuronopathy. (24300783)
2013
2
A novel MYH7 mutation occurring independently in French and Norwegian Laing distal myopathy families and de novo in one Finnish patient. (21279644)
2011
3
Clinical utility gene card for: Laing distal myopathy. (21150886)
2011
4
MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy. (20733148)
2010
5
Laing Distal Myopathy (20301606)
1993

Variations for Laing Distal Myopathy

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

64
id Symbol AA change Variation ID SNP ID
1MYH7p.Arg1500ProVAR_022369
2MYH7p.Ala1663ProVAR_022370
3MYH7p.Leu1706ProVAR_022371
4MYH7p.Thr441MetVAR_042785

Clinvar genetic disease variations for Laing Distal Myopathy:

6 (show all 15)
id Gene Name Type Significance SNP ID Assembly Location
1MYH7NM_000257.3(MYH7): c.4849_4851delAAG (p.Lys1617del)deletionPathogenicrs121913648GRCh37Chr 14, 23885315: 23885317
2MYH7NM_000257.3(MYH7): c.4442T> C (p.Leu1481Pro)single nucleotide variantPathogenicGRCh37Chr 14, 23886439: 23886439
3MYH7NM_000257.3(MYH7): c.4622A> C (p.Gln1541Pro)single nucleotide variantPathogenicGRCh37Chr 14, 23886099: 23886099
4MYH7NM_000257.3(MYH7): c.4795A> C (p.Thr1599Pro)single nucleotide variantPathogenicGRCh37Chr 14, 23885371: 23885371
5MYH7NM_000257.3(MYH7): c.4823G> C (p.Arg1608Pro)single nucleotide variantPathogenicGRCh37Chr 14, 23885343: 23885343
6MYH7NM_000257.3(MYH7): c.4835T> C (p.Leu1612Pro)single nucleotide variantPathogenicGRCh37Chr 14, 23885331: 23885331
7MYH7NM_000257.3(MYH7): c.4937T> C (p.Leu1646Pro)single nucleotide variantPathogenicGRCh37Chr 14, 23885229: 23885229
8MYH7NM_000257.3(MYH7): c.4985G> C (p.Arg1662Pro)single nucleotide variantPathogenicGRCh37Chr 14, 23885010: 23885010
9MYH7NM_000257.3(MYH7): c.5005_5007delGAG (p.Glu1669del)deletionPathogenicGRCh37Chr 14, 23884988: 23884990
10MYH7NM_000257.3(MYH7): c.5186_5188dupAGA (p.Lys1729_Met1730insLys)duplicationPathogenicGRCh37Chr 14, 23884685: 23884687
11MYH7NM_000257.3(MYH7): c.5378_5380delTGC (p.Leu1793del)deletionPathogenicGRCh37Chr 14, 23884383: 23884385
12MYH7NM_000257.3(MYH7): c.4906G> C (p.Ala1636Pro)single nucleotide variantPathogenicGRCh37Chr 14, 23885260: 23885260
13MYH7NM_000257.3(MYH7): c.4522_4524delGAG (p.Glu1508del)deletionLikely pathogenicrs397516220GRCh37Chr 14, 23886197: 23886199
14MYH7NM_000257.3(MYH7): c.5401G> A (p.Glu1801Lys)single nucleotide variantLikely pathogenicrs397516248GRCh37Chr 14, 23884362: 23884362
15MYH7NM_000257.3(MYH7): c.5740G> A (p.Glu1914Lys)single nucleotide variantLikely pathogenicrs397516254GRCh37Chr 14, 23883018: 23883018

Expression for genes affiliated with Laing Distal Myopathy

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Expression patterns in normal tissues for genes affiliated with Laing Distal Myopathy

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Pathways for genes affiliated with Laing Distal Myopathy

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Compounds for genes affiliated with Laing Distal Myopathy

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GO Terms for genes affiliated with Laing Distal Myopathy

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Products for genes affiliated with Laing Distal Myopathy

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  • Antibodies
  • Proteins
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Sources for Laing Distal Myopathy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet