MCID: LM2001
MIFTS: 15

Lama2-Related Muscular Dystrophy

Categories: Muscle diseases

Aliases & Classifications for Lama2-Related Muscular Dystrophy

MalaCards integrated aliases for Lama2-Related Muscular Dystrophy:

Name: Lama2-Related Muscular Dystrophy 23 24
Mdc1a 23 24
Laminin Alpha 2-Deficient Congenital Muscular Dystrophy 23
Merosin-Deficient Congenital Muscular Dystrophy Type 1a 23
Muscular Dystrophy Congenital, Merosin Negative 69
Laminin Alpha-2 Deficient Muscular Dystrophy 24
Muscular Dystrophy Due to Lama2 Deficiency 24
Early-Onset Laminin Alpha 2 Deficiency 23
Late-Onset Laminin Alpha 2 Deficiency 23
Merosin-Deficient Muscular Dystrophy 24
Laminin Alpha 2 Deficiency 24
Laminin, Alpha-2 13
Lama2 Md 24

Classifications:



Summaries for Lama2-Related Muscular Dystrophy

Genetics Home Reference : 24 LAMA2-related muscular dystrophy is a disorder that causes weakness and wasting (atrophy) of muscles used for movement (skeletal muscles). This condition generally appears in one of two ways: as a severe, early-onset type or a milder, late-onset form.

MalaCards based summary : Lama2-Related Muscular Dystrophy, also known as mdc1a, is related to muscular dystrophy, congenital merosin-deficient, 1a and congenital muscular dystrophy type 1a. An important gene associated with Lama2-Related Muscular Dystrophy is LAMA2 (Laminin Subunit Alpha 2). Affiliated tissues include skeletal muscle and brain.

GeneReviews: NBK97333

Related Diseases for Lama2-Related Muscular Dystrophy

Diseases related to Lama2-Related Muscular Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, congenital merosin-deficient, 1a 11.6
2 congenital muscular dystrophy type 1a 11.2
3 muscular dystrophy 10.5
4 myopathy 10.2
5 collagen vi-related myopathy 10.2

Graphical network of the top 20 diseases related to Lama2-Related Muscular Dystrophy:



Diseases related to Lama2-Related Muscular Dystrophy

Symptoms & Phenotypes for Lama2-Related Muscular Dystrophy

Drugs & Therapeutics for Lama2-Related Muscular Dystrophy

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 LAMA2-related Muscular Dystrophy Brain Study Withdrawn NCT01952028

Search NIH Clinical Center for Lama2-Related Muscular Dystrophy

Genetic Tests for Lama2-Related Muscular Dystrophy

Anatomical Context for Lama2-Related Muscular Dystrophy

MalaCards organs/tissues related to Lama2-Related Muscular Dystrophy:

38
Skeletal Muscle, Brain

Publications for Lama2-Related Muscular Dystrophy

Articles related to Lama2-Related Muscular Dystrophy:

# Title Authors Year
1
Novel Mutation (c.8725T>C) in Two Siblings With Late-Onset LAMA2-Related Muscular Dystrophy. ( 28445022 )
2017
2
Linker proteins restore basement membrane and correct LAMA2-related muscular dystrophy in mice. ( 28659438 )
2017
3
Upper extremity outcome measures for collagen VI-related myopathy and LAMA2-related muscular dystrophy. ( 28087121 )
2016
4
IGF-1/GH axis enhances losartan treatment in Lama2-related muscular dystrophy. ( 27798092 )
2016
5
Clinical and molecular genetic analysis of a family with late-onset LAMA2-related muscular dystrophy. ( 26304763 )
2015
6
Results of a two-year pilot study of clinical outcome measures in collagen VI-related myopathy and LAMA2-related muscular dystrophy. ( 25307854 )
2014
7
LAMA2-Related Muscular Dystrophy ( 22675738 )
1993

Variations for Lama2-Related Muscular Dystrophy

Expression for Lama2-Related Muscular Dystrophy

Search GEO for disease gene expression data for Lama2-Related Muscular Dystrophy.

Pathways for Lama2-Related Muscular Dystrophy

GO Terms for Lama2-Related Muscular Dystrophy

Sources for Lama2-Related Muscular Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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