MCID: LMN012
MIFTS: 30

Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy

Categories: Muscle diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy

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

Name: Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy 58
Congenital Muscular Dystrophy Due to Laminin Alpha2 Deficiency 58
Merosin-Negative Congenital Muscular Dystrophy 58
Congenital Muscular Dystrophy Type 1a 58
Cmd1a 58
Mdc1a 58

Characteristics:


Inheritance:

Autosomal recessive 58

Prevelance:

1-9/1000000 (Europe, United Kingdom) 58

Age Of Onset:

Neonatal 58

Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy

Orphanet: 58 Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting.

MalaCards based summary: Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy, also known as congenital muscular dystrophy due to laminin alpha2 deficiency, is related to cardiomyopathy, dilated, 1a and muscular dystrophy, congenital, lmna-related. An important gene associated with Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy is LAMA2 (Laminin Subunit Alpha 2). Affiliated tissues include tongue, brain and skeletal muscle, and related phenotypes are gastroesophageal reflux and motor delay

Related Diseases for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy

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



Diseases related to Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy

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

Human phenotypes related to Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy:

58 30 (show top 50) (show all 55)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gastroesophageal reflux 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002020
2 motor delay 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001270
3 respiratory failure 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002878
4 weak cry 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001612
5 myositis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100614
6 congenital muscular dystrophy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003741
7 hypokinesia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002375
8 muscle fiber atrophy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100295
9 inability to walk 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002540
10 increased connective tissue 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0009025
11 absent muscle fiber merosin 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0030091
12 highly elevated creatine kinase 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0030234
13 intellectual disability 58 30 Frequent (33%) Frequent (79-30%)
HP:0001249
14 facial palsy 58 30 Frequent (33%) Frequent (79-30%)
HP:0010628
15 macroglossia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000158
16 flexion contracture 58 30 Frequent (33%) Frequent (79-30%)
HP:0001371
17 emg abnormality 58 30 Frequent (33%) Frequent (79-30%)
HP:0003457
18 impaired mastication 58 30 Frequent (33%) Frequent (79-30%)
HP:0005216
19 aspiration 58 30 Frequent (33%) Frequent (79-30%)
HP:0002835
20 cerebral edema 58 30 Frequent (33%) Frequent (79-30%)
HP:0002181
21 astrocytosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0002446
22 recurrent lower respiratory tract infections 58 30 Frequent (33%) Frequent (79-30%)
HP:0002783
23 abnormality of the temporomandibular joint 58 30 Frequent (33%) Frequent (79-30%)
HP:0010754
24 abnormal brainstem mri signal intensity 58 30 Frequent (33%) Frequent (79-30%)
HP:0012747
25 scoliosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002650
26 dysphagia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002015
27 hyperlordosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003307
28 neonatal hypotonia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001319
29 abnormality of visual evoked potentials 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000649
30 cognitive impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100543
31 reduced tendon reflexes 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001315
32 arrhythmia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011675
33 open mouth 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000194
34 protruding tongue 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010808
35 atelectasis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100750
36 decreased body weight 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004325
37 pachygyria 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001302
38 hypoventilation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002791
39 cardiomyopathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001638
40 myopathic facies 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002058
41 intercostal muscle weakness 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004878
42 focal-onset seizure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007359
43 sensorimotor neuropathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007141
44 generalized non-motor (absence) seizure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002121
45 pontocerebellar atrophy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006879
46 reduced left ventricular ejection fraction 30 Occasional (7.5%) HP:0012664
47 pulmonary arterial hypertension 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002092
48 seizure 58 Frequent (79-30%)
49 hypotonia 58 Very frequent (99-80%)
50 muscle weakness 58 Very frequent (99-80%)

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Natural History of Patients With Congenital Muscular Dystrophies Due to Mutations in the SELENON or LAMA2 Genes: Working Towards Trial-readiness in Two Mitochondrial Myopathy Mimics Recruiting NCT04478981
2 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 Congenital Muscular Dystrophy

Genetic Tests for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy

Anatomical Context for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy

Organs/tissues related to Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy:

MalaCards : Tongue, Brain, Skeletal Muscle, Skin

Publications for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy

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

(show top 50) (show all 173)
# Title Authors PMID Year
1
Establishment of a PBMC-derived induced pluripotent stem cell (NJUCMi001-A) from a patient with LAMA2-related congenital muscular dystrophy (MDC1A) carrying frameshift deletion c.3367delA in LAMA2 gene. 62
36334577 2022
2
Widening the spectrum of LAMA 2 congenital muscular dystrophy (MDC1A): cobblestone malformation. 62
34932654 2022
3
Lysosomes and the pathogenesis of merosin-deficient congenital muscular dystrophy. 62
34568901 2022
4
Identification of a compound heterozygous missense mutation in LAMA2 gene from a patient with merosin-deficient congenital muscular dystrophy type 1A. 62
34528292 2021
5
Muscle magnetic resonance imaging in patients with LAMA2-related muscular dystrophy. 62
34702656 2021
6
Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG study. 62
34384384 2021
7
Merosin deficient congenital muscular dystrophy type 1A: An international workshop on the road to therapy 15-17 November 2019, Maastricht, the Netherlands. 62
34130888 2021
8
A cryptic intronic LAMA2 insertion in a boy with mild congenital muscular dystrophy type 1A. 62
34074572 2021
9
Micro-laminin gene therapy can function as an inhibitor of muscle disease in the dyW mouse model of MDC1A. 62
33869655 2021
10
Identification of a novel LAMA2 c.2217G > A, p.(Trp739*) mutation in a Moroccan patient with congenital muscular dystrophy: a case report. 62
33882917 2021
11
Skeletal and Cardiac Muscle Disorders Caused by Mutations in Genes Encoding Intermediate Filament Proteins. 62
33923914 2021
12
Congenital muscular dystrophy-associated inflammatory chemokines provide axes for effective recruitment of therapeutic adult stem cell into muscles. 62
33138863 2020
13
Novel mutation identification and copy number variant detection via exome sequencing in congenital muscular dystrophy. 62
32936536 2020
14
Cobblestone Malformation in LAMA2 Congenital Muscular Dystrophy (MDC1A). 62
32827036 2020
15
Circulating Biomarkers in Muscular Dystrophies: Disease and Therapy Monitoring. 62
32637452 2020
16
[Clinical features and LAMA2 mutations of patients with congenital muscular dystrophy type 1A: a case report and literature review]. 62
32571460 2020
17
A novel de novo variant of LAMA2 contributes to merosin deficient congenital muscular dystrophy type 1A: Case report. 62
31929873 2020
18
Brain Dysfunction in LAMA2-Related Congenital Muscular Dystrophy: Lessons From Human Case Reports and Mouse Models. 62
32792907 2020
19
Fibrogenesis in LAMA2-Related Muscular Dystrophy Is a Central Tenet of Disease Etiology. 62
32116541 2020
20
Zebrafish Models of LAMA2-Related Congenital Muscular Dystrophy (MDC1A). 62
32742259 2020
21
Impaired Regeneration in Dystrophic Muscle-New Target for Therapy. 62
32523512 2020
22
LAMA2 Neuropathies: Human Findings and Pathomechanisms From Mouse Models. 62
32390798 2020
23
Recent advancements in exon-skipping therapies using antisense oligonucleotides and genome editing for the treatment of various muscular dystrophies. 62
31576784 2019
24
Pax7, Pax3 and Mamstr genes are involved in skeletal muscle impaired regeneration of dy2J/dy2J mouse model of Lama2-CMD. 62
31348492 2019
25
A mutation-independent approach for muscular dystrophy via upregulation of a modifier gene. 62
31341277 2019
26
Exome sequencing detects compound heterozygous nonsense LAMA2 mutations in two siblings with atypical phenotype and nearly normal brain MRI. 62
31040037 2019
27
Missense mutations in LAMA2 causing a new phenotype of mild cognitive impairment, proximal myopathy, seizure, and severe leukoencephalopathy: A case report and protein analysis. 62
30900984 2019
28
RGD inhibition of itgb1 ameliorates laminin-α2-deficient zebrafish fibre pathology. 62
30566586 2019
29
Linker Protein Repair of LAMA2 Dystrophic Neuromuscular Basement Membranes. 62
31920536 2019
30
Cellular rescue in a zebrafish model of congenital muscular dystrophy type 1A. 62
31754462 2019
31
Identification of Candidate Protein Markers in Skeletal Muscle of Laminin-211-Deficient CMD Type 1A-Patients. 62
31133972 2019
32
Current understanding and treatment of cardiac and skeletal muscle pathology in laminin-α2 chain-deficient congenital muscular dystrophy. 62
31308722 2019
33
Molecular Genetics Analysis of 70 Chinese Families With Muscular Dystrophy Using Multiplex Ligation-Dependent Probe Amplification and Next-Generation Sequencing. 62
31404137 2019
34
Novel LAMA2 Gene Mutations Associated with Merosin-Deficient Congenital Muscular Dystrophy 62
29707938 2018
35
Effects of metformin on congenital muscular dystrophy type 1A disease progression in mice: a gender impact study. 62
30389963 2018
36
Laminin-deficient muscular dystrophy: Molecular pathogenesis and structural repair strategies. 62
29191403 2018
37
LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypes. 62
30055037 2018
38
A Low-Cost Pulse Generator for Exacerbating Muscle Fiber Detachment Phenotypes in Zebrafish. 62
29381425 2018
39
Aberrant Caspase Activation in Laminin-α2-Deficient Human Myogenic Cells is Mediated by p53 and Sirtuin Activity. 62
29278895 2018
40
Natural disease history of the dy2J mouse model of laminin α2 (merosin)-deficient congenital muscular dystrophy. 62
29763467 2018
41
Exon Skipping Using Antisense Oligonucleotides for Laminin-Alpha2-Deficient Muscular Dystrophy. 62
30171567 2018
42
An Overview of Recent Advances and Clinical Applications of Exon Skipping and Splice Modulation for Muscular Dystrophy and Various Genetic Diseases. 62
30171533 2018
43
Identification of Two Novel LAMA2 Mutations in a Chinese Patient with Congenital Muscular Dystrophy. 62
29487616 2018
44
Tips to Design Effective Splice-Switching Antisense Oligonucleotides for Exon Skipping and Exon Inclusion. 62
30171536 2018
45
LAMA2 Congenital Muscle Dystrophy: A Novel Pathogenic Mutation in Bulgarian Patient. 62
30147969 2018
46
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period. 62
28688748 2017
47
Muscle MRI findings in a one-year-old girl with merosin-deficient congenital muscular dystrophy type 1A due to LAMA2 mutation: A case report. 62
28804634 2017
48
Correction of a splicing defect in a mouse model of congenital muscular dystrophy type 1A using a homology-directed-repair-independent mechanism. 62
28714989 2017
49
Linker proteins restore basement membrane and correct LAMA2-related muscular dystrophy in mice. 62
28659438 2017
50
Impaired fetal muscle development and JAK-STAT activation mark disease onset and progression in a mouse model for merosin-deficient congenital muscular dystrophy. 62
28334989 2017

Variations for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy

Expression for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy

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

Pathways for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy

GO Terms for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy

Sources for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy

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