MCID: LMN013
MIFTS: 12

Laminin Subunit Alpha 2-Related Muscular Dystrophy

Categories: Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Laminin Subunit Alpha 2-Related Muscular Dystrophy

MalaCards integrated aliases for Laminin Subunit Alpha 2-Related Muscular Dystrophy:

Name: Laminin Subunit Alpha 2-Related Muscular Dystrophy 58
Qualitative or Quantitative Defects of Merosin 58
Lama2-Related Muscular Dystrophy 58

Classifications:



External Ids:

Orphanet 58 ORPHA207094

Summaries for Laminin Subunit Alpha 2-Related Muscular Dystrophy

MalaCards based summary : Laminin Subunit Alpha 2-Related Muscular Dystrophy, also known as qualitative or quantitative defects of merosin, is related to congenital muscular dystrophy type 1a and muscular dystrophy. Affiliated tissues include brain.

Related Diseases for Laminin Subunit Alpha 2-Related Muscular Dystrophy

Diseases in the Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy family:

Laminin Subunit Alpha 2-Related Muscular Dystrophy

Diseases related to Laminin Subunit Alpha 2-Related Muscular Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
# Related Disease Score Top Affiliating Genes
1 congenital muscular dystrophy type 1a 12.0
2 muscular dystrophy 10.6
3 muscular dystrophy, congenital merosin-deficient, 1a 10.4
4 muscular dystrophy, congenital, lmna-related 10.4
5 muscular dystrophy, duchenne type 10.1
6 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.1
7 scoliosis 10.1
8 epilepsy 10.1
9 myopathy 10.1
10 limb-girdle muscular dystrophy 10.1
11 lama2 muscular dystrophy 10.1
12 polymicrogyria 10.1
13 collagen vi related muscular dystrophy 10.1
14 collagen vi-related myopathy 10.1
15 hypotonia 10.1

Graphical network of the top 20 diseases related to Laminin Subunit Alpha 2-Related Muscular Dystrophy:



Diseases related to Laminin Subunit Alpha 2-Related Muscular Dystrophy

Symptoms & Phenotypes for Laminin Subunit Alpha 2-Related Muscular Dystrophy

Drugs & Therapeutics for Laminin Subunit Alpha 2-Related Muscular Dystrophy

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A LAMA2-related Muscular Dystrophy Study: Brain Magnetic Resonance Imaging (MRI)and Brain Electrophysiology Evaluation Withdrawn NCT01952028

Search NIH Clinical Center for Laminin Subunit Alpha 2-Related Muscular Dystrophy

Genetic Tests for Laminin Subunit Alpha 2-Related Muscular Dystrophy

Anatomical Context for Laminin Subunit Alpha 2-Related Muscular Dystrophy

MalaCards organs/tissues related to Laminin Subunit Alpha 2-Related Muscular Dystrophy:

40
Brain

Publications for Laminin Subunit Alpha 2-Related Muscular Dystrophy

Articles related to Laminin Subunit Alpha 2-Related Muscular Dystrophy:

(show all 15)
# Title Authors PMID Year
1
LAMA2-related muscular dystrophy: Natural history of a large pediatric cohort. 61
32910545 2020
2
Clinical and genomic characteristics of LAMA2 related congenital muscular dystrophy in a patients' cohort from Qatar. A population specific founder variant. 61
32444167 2020
3
Epilepsy in LAMA2-related muscular dystrophy: An electro-clinico-radiological characterization. 61
32266982 2020
4
Hypoglycemia in patients with congenital muscle disease. 61
32028919 2020
5
Fibrogenesis in LAMA2-Related Muscular Dystrophy Is a Central Tenet of Disease Etiology. 61
32116541 2020
6
LAMA2 Neuropathies: Human Findings and Pathomechanisms From Mouse Models. 61
32390798 2020
7
Amelioration of Muscle and Nerve Pathology in LAMA2 Muscular Dystrophy by AAV9-Mini-Agrin. 61
29766020 2018
8
Novel Mutation (c.8725T>C) in Two Siblings With Late-Onset LAMA2-Related Muscular Dystrophy. 61
28445022 2017
9
Linker proteins restore basement membrane and correct LAMA2-related muscular dystrophy in mice. 61
28659438 2017
10
Upper extremity outcome measures for collagen VI-related myopathy and LAMA2-related muscular dystrophy. 61
28087121 2017
11
[Peripheral nerve injury in LAMA2-related congenital muscular dystrophy patients]. 61
28173645 2017
12
IGF-1/GH axis enhances losartan treatment in Lama2-related muscular dystrophy. 61
27798092 2016
13
Clinical and molecular genetic analysis of a family with late-onset LAMA2-related muscular dystrophy. 61
26304763 2016
14
LAMA2-related myopathy: Frequency among congenital and limb-girdle muscular dystrophies. 61
25663498 2015
15
Next generation sequencing in the identification of a rare genetic disease from preconceptional couple screening to preimplantation genetic diagnosis. 61
25332755 2014

Variations for Laminin Subunit Alpha 2-Related Muscular Dystrophy

Expression for Laminin Subunit Alpha 2-Related Muscular Dystrophy

Search GEO for disease gene expression data for Laminin Subunit Alpha 2-Related Muscular Dystrophy.

Pathways for Laminin Subunit Alpha 2-Related Muscular Dystrophy

GO Terms for Laminin Subunit Alpha 2-Related Muscular Dystrophy

Sources for Laminin Subunit Alpha 2-Related Muscular Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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