MCID: LM2001
MIFTS: 22

Lama2-Related Muscular Dystrophy

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

Aliases & Classifications for Lama2-Related Muscular Dystrophy

MalaCards integrated aliases for Lama2-Related Muscular Dystrophy:

Name: Lama2-Related Muscular Dystrophy 25 26
Mdc1a 25 26
Laminin Alpha 2-Deficient Congenital Muscular Dystrophy 25
Merosin-Deficient Congenital Muscular Dystrophy Type 1a 25
Muscular Dystrophy Congenital, Merosin Negative 74
Laminin Alpha-2 Deficient Muscular Dystrophy 26
Muscular Dystrophy Due to Lama2 Deficiency 26
Early-Onset Laminin Alpha 2 Deficiency 25
Late-Onset Laminin Alpha 2 Deficiency 25
Merosin-Deficient Muscular Dystrophy 26
Laminin Alpha 2 Deficiency 26
Laminin, Alpha-2 13
Lama2 Md 26

Classifications:



External Ids:

UMLS 74 C1263858

Summaries for Lama2-Related Muscular Dystrophy

Genetics Home Reference : 26 LAMA2-related muscular dystrophy is a disorder that causes weakness and wasting (atrophy) of muscles used for movement (skeletal muscles). This condition varies in severity, from a severe, early-onset type to 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

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 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402
2 LAMA2-related Muscular Dystrophy Brain Study Withdrawn NCT01952028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:

42
Skeletal Muscle, Brain

Publications for Lama2-Related Muscular Dystrophy

Articles related to Lama2-Related Muscular Dystrophy:

(show all 12)
# 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
Magnetic Resonance Imaging Is Sensitive to Pathological Amelioration in a Model for Laminin-Deficient Congenital Muscular Dystrophy (MDC1A). ( 26379183 )
2015
7
Integrin dysregulation as a possible driver of matrix remodeling in Laminin-deficient congenital muscular dystrophy (MDC1A). ( 28198706 )
2015
8
Life or death by NFκB, Losartan promotes survival in dy2J/dy2J mouse of MDC1A. ( 25766329 )
2015
9
Results of a two-year pilot study of clinical outcome measures in collagen VI-related myopathy and LAMA2-related muscular dystrophy. ( 25307854 )
2014
10
Skeletal muscle laminin and MDC1A: pathogenesis and treatment strategies. ( 21798088 )
2011
11
Autophagy is increased in laminin α2 chain-deficient muscle and its inhibition improves muscle morphology in a mouse model of MDC1A. ( 21920942 )
2011
12
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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