MPD1
MCID: LNG041
MIFTS: 26

Laing Distal Myopathy (MPD1) malady

Neuronal, Ear, Muscle categories

Summaries for Laing Distal Myopathy

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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: Laing Distal Myopathy, also known as laing early-onset distal myopathy, is related to distal muscular dystrophy and welander distal myopathy, swedish type. 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:47 160500

GeneReviews summary for mpd1

Aliases & Classifications for Laing Distal Myopathy

Sources:
19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 49Orphanet, 61UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal, Ear, Muscle


Characteristics (Orphanet epidemiological data):

49
laing distal myopathy:
Inheritance: Autosomal dominant; Age of onset: Childhood


Aliases & Descriptions:

laing distal myopathy 19 43 20 21 47 49
laing early-onset distal myopathy 19 43 21 49
myopathy distal, type 1 43 22
mpd1 21 49
distal muscular dystrophies 61
welander distal myopathy 61
distal myopathy type 1 49
distal myopathy 1 21


External Ids:

OMIM47 160500
ICD10 via Orphanet26 G71.0

Related Diseases for Laing Distal Myopathy

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Laing Distal Myopathy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1distal muscular dystrophy10.9
2welander distal myopathy, swedish type10.7
3inclusion body myositis10.3
4dysferlinopathy10.1
5distal myopathy with vocal cord weakness10.1
6distal myopathy markesbery-griggs type10.1
7miyoshi myopathy10.1
8muscular dystrophy - late onset10.1
9distal myopathy 410.1
10autonomic dysfunction10.1

Graphical network of diseases related to Laing Distal Myopathy:



Diseases related to laing distal myopathy

Clinical Features for Laing Distal Myopathy

Sources:
47OMIM
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Clinical features from OMIM:

160500

Clinical synopsis from OMIM:

160500

Drugs & Therapeutics for Laing Distal Myopathy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Laing Distal Myopathy

Drug clinical trials:

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Search NIH Clinical Center for Laing Distal Myopathy

Search CenterWatch for Laing Distal Myopathy

Genetic Tests for Laing Distal Myopathy

Sources:
20GeneTests, 22GTR
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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

Sources:
33MalaCards
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MalaCards organs/tissues related to Laing Distal Myopathy:

33
Skeletal muscle

Animal Models for Laing Distal Myopathy or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Laing Distal Myopathy

Sources:
51PubMed
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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 early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy. (16103042)
2006
6
Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause Laing early-onset distal myopathy (MPD1). (15322983)
2004
7
Laing Distal Myopathy (20301606)
1993

Genetic Variations for Laing Distal Myopathy

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Laing Distal Myopathy:

63
id Symbol AA change Variation SNP ID
1MYH7p.Arg1500ProVAR_022369
2MYH7p.Ala1663ProVAR_022370
3MYH7p.Leu1706ProVAR_022371
4MYH7p.Thr441MetVAR_042785

Expression for genes affiliated with Laing Distal Myopathy

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Laing Distal Myopathy

Search GEO for disease gene expression data for Laing Distal Myopathy.

Pathways for genes affiliated with Laing Distal Myopathy

Compounds for genes affiliated with Laing Distal Myopathy

GO Terms for genes affiliated with Laing Distal Myopathy

Products for genes affiliated with Laing Distal Myopathy

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  • Proteins
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  • Antibodies

Sources for Laing Distal Myopathy

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet