MCID: LM2001
MIFTS: 19

Lama2-Related Muscular Dystrophy

Categories: Muscle diseases, Neuronal diseases, Rare diseases, Cardiovascular diseases, Genetic diseases

Aliases & Classifications for Lama2-Related Muscular Dystrophy

MalaCards integrated aliases for Lama2-Related Muscular Dystrophy:

Name: Lama2-Related Muscular Dystrophy 24 25
Mdc1a 24 25
Laminin Alpha 2-Deficient Congenital Muscular Dystrophy 24
Merosin-Deficient Congenital Muscular Dystrophy Type 1a 24
Muscular Dystrophy Congenital, Merosin Negative 73
Laminin Alpha-2 Deficient Muscular Dystrophy 25
Muscular Dystrophy Due to Lama2 Deficiency 25
Early-Onset Laminin Alpha 2 Deficiency 24
Late-Onset Laminin Alpha 2 Deficiency 24
Merosin-Deficient Muscular Dystrophy 25
Laminin Alpha 2 Deficiency 25
Laminin, Alpha-2 13
Lama2 Md 25

Classifications:



Summaries for Lama2-Related Muscular Dystrophy

Genetics Home Reference : 25 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 in the Muscular Dystrophy family:

Muscular Dystrophy, Congenital, 1b Muscular Dystrophy, Congenital, Lmna-Related
Lama2-Related Muscular Dystrophy Congenital Muscular Dystrophy Due to Dystroglycanopathy
Congenital Muscular Dystrophy Type 1a

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, congenital, lmna-related 10.6
4 muscular dystrophy 10.5
5 myopathy 10.2
6 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:

41
Skeletal Muscle, Brain

Publications for Lama2-Related Muscular Dystrophy

Articles related to Lama2-Related Muscular Dystrophy:

# Title Authors Year
1
Linker proteins restore basement membrane and correct LAMA2-related muscular dystrophy in mice. ( 28659438 )
2017
2
Novel Mutation (c.8725T>C) in Two Siblings With Late-Onset LAMA2-Related Muscular Dystrophy. ( 28445022 )
2017
3
IGF-1/GH axis enhances losartan treatment in Lama2-related muscular dystrophy. ( 27798092 )
2016
4
Upper extremity outcome measures for collagen VI-related myopathy and LAMA2-related muscular dystrophy. ( 28087121 )
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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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