MPD1
MCID: LNG041
MIFTS: 28

Laing Distal Myopathy (MPD1) malady

Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases categories

Summaries for Laing Distal Myopathy

About this section
Sources:
44NIH Rare Diseases, 22Genetics Home Reference, 48OMIM, 20GeneReviews, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
NIH Rare Diseases:44 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 myopathy and klhl9-related childhood-onset distal myopathy. An important gene associated with Laing Distal Myopathy is MYH7 (myosin, heavy chain 7, cardiac muscle, beta).

Genetics Home Reference:22 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:48 160500

GeneReviews summary for mpd1

Aliases & Classifications for Laing Distal Myopathy

About this section
Sources:
20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 50Orphanet, 63UMLS, 27ICD10 via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

50
laing early-onset distal myopathy:
Inheritance: Autosomal dominant; Age of onset: Childhood


Aliases & Descriptions:

laing distal myopathy 20 44 21 22 48
laing early-onset distal myopathy 20 44 22 50
myopathy distal, type 1 44 23
mpd1 22 50
distal muscular dystrophies 63
welander distal myopathy 63
distal myopathy type 1 50
distal myopathy 1 22
gowers disease 50


External Ids:

OMIM48 160500
ICD10 via Orphanet27 G71.0

Related Diseases for Laing Distal Myopathy

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

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

idRelated DiseaseScoreTop Affiliating Genes
1myopathy10.6
2klhl9-related childhood-onset distal myopathy10.1
3nebulin-related early-onset distal myopathy10.1

Symptoms for Laing Distal Myopathy

About this section
Sources:
48OMIM
See all sources

Symptoms by clinical synopsis from OMIM:

160500

Clinical features from OMIM:

160500

Drugs & Therapeutics for Laing Distal Myopathy

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Laing Distal Myopathy

Drug clinical trials:

Search ClinicalTrials for Laing Distal Myopathy

Search NIH Clinical Center for Laing Distal Myopathy

Search CenterWatch for Laing Distal Myopathy

Genetic Tests for Laing Distal Myopathy

About this section
Sources:
21GeneTests, 23GTR
See all sources

Genetic tests related to Laing Distal Myopathy:

id Genetic test Affiliating Genes
1 Laing Distal Myopathy21 MYH7
2 Myopathy, Distal, 123

Anatomical Context for Laing Distal Myopathy

About this section

Animal Models for Laing Distal Myopathy or affiliated genes

About this section

Publications for Laing Distal Myopathy

About this section
Sources:
53PubMed
See all sources

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

About this section
Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
See all sources

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

65
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:

1 (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 pathogenic, Pathogenicrs397516220GRCh37Chr 14, 23886197: 23886199
14MYH7NM_000257.3(MYH7): c.5401G> A (p.Glu1801Lys)single nucleotide variantLikely pathogenic, Pathogenicrs397516248GRCh37Chr 14, 23884362: 23884362
15MYH7NM_000257.3(MYH7): c.5740G> A (p.Glu1914Lys)single nucleotide variantLikely pathogenic, Pathogenicrs397516254GRCh37Chr 14, 23883018: 23883018

Expression for genes affiliated with Laing Distal Myopathy

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
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

About this section

Compounds for genes affiliated with Laing Distal Myopathy

About this section

GO Terms for genes affiliated with Laing Distal Myopathy

About this section

Products for genes affiliated with Laing Distal Myopathy

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Laing Distal Myopathy

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet