MCID: LM2001
MIFTS: 20

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 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:



External Ids:

UMLS 73 C1263858

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 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 muscular dystrophy-dystroglycanopathy , type c, 5. An important gene associated with Lama2-Related Muscular Dystrophy is LAMA2 (Laminin Subunit Alpha 2). Affiliated tissues include skeletal muscle and bone.

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1 LAMA2-related Muscular Dystrophy Brain Study Withdrawn NCT01952028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, Bone

Publications for Lama2-Related Muscular Dystrophy

Articles related to Lama2-Related Muscular Dystrophy:

(show all 14)
# 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
Life or death by NFκB, Losartan promotes survival in dy2J/dy2J mouse of MDC1A. ( 25766329 )
2015
7
Magnetic Resonance Imaging Is Sensitive to Pathological Amelioration in a Model for Laminin-Deficient Congenital Muscular Dystrophy (MDC1A). ( 26379183 )
2015
8
Integrin dysregulation as a possible driver of matrix remodeling in Laminin-deficient congenital muscular dystrophy (MDC1A). ( 28198706 )
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
Immortalized myogenic cells from congenital muscular dystrophy type1A patients recapitulate aberrant caspase activation in pathogenesis: a new tool for MDC1A research. ( 24314268 )
2013
11
Skeletal muscle laminin and MDC1A: pathogenesis and treatment strategies. ( 21798088 )
2011
12
Autophagy is increased in laminin α2 chain-deficient muscle and its inhibition improves muscle morphology in a mouse model of MDC1A. ( 21920942 )
2011
13
Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for alpha2 chain of laminin). ( 11938437 )
2002
14
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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