MPD1
MCID: LNG041
MIFTS: 34

Laing Distal Myopathy (MPD1) malady

Neuronal diseases, Ear diseases, Muscle diseases categories

Summaries for Laing Distal Myopathy

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Sources:
21Genetics Home Reference, 42NIH Rare Diseases, 46OMIM, 19GeneReviews, 32MalaCards
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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: Laing Distal Myopathy, also known as laing early-onset distal myopathy, is related to distal muscular dystrophy and muscular dystrophy. 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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Sources:
19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 46OMIM, 48Orphanet, 60UMLS, 22GTR, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

laing distal myopathy 19 42 20 21 46 48
laing early-onset distal myopathy 19 42 21 48
myopathy distal, type 1 42 22
mpd1 21 48
distal muscular dystrophies 60
welander distal myopathy 60
distal myopathy type 1 48
distal myopathy 1 21


External Ids:

OMIM46 160500
ICD10 via Orphanet26 G71.0

Related Diseases for Laing Distal Myopathy

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

(show all 12)
idRelated DiseaseScoreTop Affiliating Genes
1distal muscular dystrophy10.8
2muscular dystrophy10.8
3welander distal myopathy, swedish type10.7
4myopathy10.5
5inclusion body myositis10.3
6myositis10.3
7dysferlinopathy10.1
8distal myopathy with vocal cord weakness10.1
9distal myopathy markesbery-griggs type10.1
10miyoshi myopathy10.1
11distal myopathy 410.1
12cav3-related distal myopathy10.1

Graphical network of diseases related to Laing Distal Myopathy:



Diseases related to laing distal myopathy

Clinical Features for Laing Distal Myopathy

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46OMIM
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Clinical features from OMIM:

160500

Clinical synopsis from OMIM:

160500

Drugs & Therapeutics for Laing Distal Myopathy

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Laing Distal Myopathy

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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

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32MalaCards
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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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50PubMed
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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

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Laing Distal Myopathy:

62
id Symbol AA change Variation ID SNP ID
1MYH7p.Arg1500ProVAR_022369
2MYH7p.Ala1663ProVAR_022370
3MYH7p.Leu1706ProVAR_022371
4MYH7p.Thr441MetVAR_042785

Expression for genes affiliated with Laing Distal Myopathy

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1BioGPS, 15Gene Expression Omnibus DataSets
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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
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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet