MCID: CNG112
MIFTS: 31

Congenital Muscular Dystrophy Type 1a

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

Aliases & Classifications for Congenital Muscular Dystrophy Type 1a

MalaCards integrated aliases for Congenital Muscular Dystrophy Type 1a:

Name: Congenital Muscular Dystrophy Type 1a 49
Merosin-Deficient Congenital Muscular Dystrophy 49 36
Muscular Dystrophy, Congenital, Merosin-Deficient 49
Merosin Deficient Congenital Muscular Dystrophy 28
Muscular Dystrophy Congenital, Merosin Negative 69
Merosin-Negative Congenital Muscular Dystrophy 49
Lama2-Related Muscular Dystrophy 49
Laminin Alpha-2 Deficiency 49
Mdc1a 49

Classifications:



Summaries for Congenital Muscular Dystrophy Type 1a

NIH Rare Diseases : 49 Congenital muscular dystrophy type 1A (MDC1A) belongs to a group of neuromuscular disorders that beings at birth or infancy and is characterized mainly by hypotonia, muscle weakness and muscle wasting. Other signs and symptoms include rigidity of the spine; scoliosis; and delayed, limited motor development, with most individuals needing assistive devices for mobility. Respiratory problems, feeding disorders and seizures may also occur. With time, affected individuals may develop an elongated face and ophthalmoplegia disorders (paralysis or weakness in muscles of the eye). Intellectual development is typically normal. The prognosis is poor, as many affected children do not reach adolescence. It is caused by mutations in the LAMA2 gene and is inherited in an autosomal recessive manner. Treatment is generally symptomatic and includes a multidisciplinary approach. Last updated: 9/26/2011

MalaCards based summary : Congenital Muscular Dystrophy Type 1a, also known as merosin-deficient congenital muscular dystrophy, is related to muscular dystrophy, congenital merosin-deficient, 1a and lama2-related muscular dystrophy, and has symptoms including macroglossia, open mouth and abnormality of visual evoked potentials. An important gene associated with Congenital Muscular Dystrophy Type 1a is LAMA2 (Laminin Subunit Alpha 2), and among its related pathways/superpathways is ECM-receptor interaction. Affiliated tissues include eye, tongue and brain.

Related Diseases for Congenital Muscular Dystrophy Type 1a

Diseases in the Muscular Dystrophy family:

Muscular Dystrophy, Congenital, 1b Congenital Muscular Dystrophy Due to Dystroglycanopathy
Congenital Muscular Dystrophy Type 1a

Diseases related to Congenital Muscular Dystrophy Type 1a via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, congenital merosin-deficient, 1a 11.2
2 lama2-related muscular dystrophy 11.2
3 muscular dystrophy, congenital, lmna-related 10.5
4 muscular dystrophy 10.5
5 leigh syndrome 10.0
6 laryngitis 10.0

Graphical network of the top 20 diseases related to Congenital Muscular Dystrophy Type 1a:



Diseases related to Congenital Muscular Dystrophy Type 1a

Symptoms & Phenotypes for Congenital Muscular Dystrophy Type 1a

Human phenotypes related to Congenital Muscular Dystrophy Type 1a:

31 (show all 44)
# Description HPO Frequency HPO Source Accession
1 macroglossia 31 frequent (33%) HP:0000158
2 open mouth 31 occasional (7.5%) HP:0000194
3 abnormality of visual evoked potentials 31 occasional (7.5%) HP:0000649
4 intellectual disability 31 frequent (33%) HP:0001249
5 motor delay 31 hallmark (90%) HP:0001270
6 pachygyria 31 occasional (7.5%) HP:0001302
7 neonatal hypotonia 31 occasional (7.5%) HP:0001319
8 lissencephaly 31 occasional (7.5%) HP:0001339
9 flexion contracture 31 frequent (33%) HP:0001371
10 weak cry 31 hallmark (90%) HP:0001612
11 cardiomyopathy 31 occasional (7.5%) HP:0001638
12 gastroesophageal reflux 31 hallmark (90%) HP:0002020
13 myopathic facies 31 occasional (7.5%) HP:0002058
14 pulmonary arterial hypertension 31 very rare (1%) HP:0002092
15 absence seizures 31 occasional (7.5%) HP:0002121
16 cerebral edema 31 frequent (33%) HP:0002181
17 hypokinesia 31 hallmark (90%) HP:0002375
18 astrocytosis 31 frequent (33%) HP:0002446
19 inability to walk 31 hallmark (90%) HP:0002540
20 scoliosis 31 occasional (7.5%) HP:0002650
21 recurrent lower respiratory tract infections 31 frequent (33%) HP:0002783
22 hypoventilation 31 occasional (7.5%) HP:0002791
23 aspiration 31 frequent (33%) HP:0002835
24 respiratory failure 31 hallmark (90%) HP:0002878
25 hyperlordosis 31 occasional (7.5%) HP:0003307
26 congenital muscular dystrophy 31 hallmark (90%) HP:0003741
27 decreased body weight 31 occasional (7.5%) HP:0004325
28 intercostal muscle weakness 31 occasional (7.5%) HP:0004878
29 chewing difficulties 31 frequent (33%) HP:0005216
30 pontocerebellar atrophy 31 occasional (7.5%) HP:0006879
31 sensorimotor neuropathy 31 occasional (7.5%) HP:0007141
32 focal seizures 31 occasional (7.5%) HP:0007359
33 increased connective tissue 31 hallmark (90%) HP:0009025
34 facial palsy 31 frequent (33%) HP:0010628
35 abnormality of the temporomandibular joint 31 frequent (33%) HP:0010754
36 protruding tongue 31 occasional (7.5%) HP:0010808
37 arrhythmia 31 occasional (7.5%) HP:0011675
38 reduced ejection fraction 31 occasional (7.5%) HP:0012664
39 abnormal brainstem mri signal intensity 31 frequent (33%) HP:0012747
40 highly elevated creatine phosphokinase 31 hallmark (90%) HP:0030234
41 muscle fiber atrophy 31 hallmark (90%) HP:0100295
42 cognitive impairment 31 occasional (7.5%) HP:0100543
43 myositis 31 hallmark (90%) HP:0100614
44 atelectasis 31 occasional (7.5%) HP:0100750

Drugs & Therapeutics for Congenital Muscular Dystrophy Type 1a

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 Congenital Muscular Dystrophy Type 1a

Genetic Tests for Congenital Muscular Dystrophy Type 1a

Genetic tests related to Congenital Muscular Dystrophy Type 1a:

# Genetic test Affiliating Genes
1 Merosin Deficient Congenital Muscular Dystrophy 28 LAMA2

Anatomical Context for Congenital Muscular Dystrophy Type 1a

MalaCards organs/tissues related to Congenital Muscular Dystrophy Type 1a:

38
Eye, Tongue, Brain

Publications for Congenital Muscular Dystrophy Type 1a

Articles related to Congenital Muscular Dystrophy Type 1a:

# Title Authors Year
1
Correction of a splicing defect in a mouse model of congenital muscular dystrophy type 1A using a homology-directed-repair-independent mechanism. ( 28714989 )
2017
2
Bioenergetic Impairment in Congenital Muscular Dystrophy Type 1A and Leigh Syndrome Muscle Cells. ( 28367954 )
2017
3
Muscle MRI findings in a one-year-old girl with merosin-deficient congenital muscular dystrophy type 1A due to LAMA2 mutation: A case report. ( 28804634 )
2017
4
Mesoangioblast delivery of miniagrin ameliorates murine model of merosin-deficient congenital muscular dystrophy type 1A. ( 26347253 )
2015
5
Congenital muscular dystrophy type 1A with residual merosin expression. ( 24778697 )
2014
6
Merosin-deficient congenital muscular dystrophy type 1A: A case report. ( 24223650 )
2013
7
Muscle-specific expression of insulin-like growth factor 1 improves outcome in Lama2Dy-w mice, a model for congenital muscular dystrophy type 1A. ( 21441569 )
2011
8
Transgenic overexpression of the I+7 integrin reduces muscle pathology and improves viability in the dy(W) mouse model of merosin-deficient congenital muscular dystrophy type 1A. ( 21652631 )
2011
9
Intrinsic laryngeal muscles are spared from degeneration in the dy3K/dy3K mouse model of congenital muscular dystrophy type 1A. ( 19086066 )
2009
10
Merosin-deficient congenital muscular dystrophy type 1A. ( 18516331 )
2008

Variations for Congenital Muscular Dystrophy Type 1a

ClinVar genetic disease variations for Congenital Muscular Dystrophy Type 1a:

6 (show all 50)
# Gene Variation Type Significance SNP ID Assembly Location
1 LAMA2 LAMA2, IVS30, A-T, -2 single nucleotide variant Pathogenic
2 LAMA2 NM_000426.3(LAMA2): c.3718C> T (p.Gln1240Ter) single nucleotide variant Pathogenic rs121913569 GRCh37 Chromosome 6, 129636783: 129636783
3 LAMA2 LAMA2, 1-BP DEL, 8314A deletion Pathogenic
4 LAMA2 LAMA2, 2-BP DEL, 2098AG deletion Pathogenic
5 LAMA2 NM_000426.3(LAMA2): c.7732C> T (p.Arg2578Ter) single nucleotide variant Pathogenic rs121913572 GRCh37 Chromosome 6, 129802567: 129802567
6 LAMA2 NM_000426.3(LAMA2): c.7147C> T (p.Arg2383Ter) single nucleotide variant Pathogenic rs121913576 GRCh37 Chromosome 6, 129785589: 129785589
7 LAMA2 NM_000426.3(LAMA2): c.2901C> A (p.Cys967Ter) single nucleotide variant Pathogenic rs121913577 GRCh37 Chromosome 6, 129618874: 129618874
8 LAMA1; LAMA2 LAMA, 1-BP DEL, 825C deletion Pathogenic
9 LAMA2 NM_000426.3(LAMA2): c.7750-1713_7899-2153del4987 deletion Pathogenic GRCh37 Chromosome 6, 129805906: 129810893
10 LAMA2 NM_000426.3(LAMA2): c.1854_1861dupACGTGTTC (p.Leu621Hisfs) duplication Pathogenic rs202247791 GRCh37 Chromosome 6, 129571328: 129571335
11 LAMA2 NM_000426.3(LAMA2): c.7881T> G (p.His2627Gln) single nucleotide variant Pathogenic rs202247792 GRCh37 Chromosome 6, 129807750: 129807750
12 LAMA2 NM_000426.3(LAMA2): c.112+1G> A single nucleotide variant Pathogenic rs398123367 GRCh37 Chromosome 6, 129204503: 129204503
13 LAMA2 NM_000426.3(LAMA2): c.184G> T (p.Gly62Ter) single nucleotide variant Pathogenic rs398123368 GRCh37 Chromosome 6, 129371134: 129371134
14 LAMA2 NM_000426.3(LAMA2): c.2750-1G> C single nucleotide variant Pathogenic rs9492297 GRCh37 Chromosome 6, 129612758: 129612758
15 LAMA2 NM_000426.3(LAMA2): c.2962C> T (p.Gln988Ter) single nucleotide variant Pathogenic rs398123371 GRCh37 Chromosome 6, 129618935: 129618935
16 LAMA2 NM_000426.3(LAMA2): c.3630delT (p.Ile1210Metfs) deletion Pathogenic rs398123372 GRCh37 Chromosome 6, 129636695: 129636695
17 LAMA2 NM_000426.3(LAMA2): c.3976C> T (p.Arg1326Ter) single nucleotide variant Pathogenic rs398123373 GRCh37 Chromosome 6, 129637234: 129637234
18 LAMA2 NM_000426.3(LAMA2): c.4523+1G> A single nucleotide variant Pathogenic rs398123375 GRCh37 Chromosome 6, 129670530: 129670530
19 LAMA2 NM_000426.3(LAMA2): c.5050G> T (p.Glu1684Ter) single nucleotide variant Pathogenic rs201632009 GRCh37 Chromosome 6, 129704357: 129704357
20 LAMA2 NM_000426.3(LAMA2): c.5706_5712delCTCATCT (p.Asp1902Glufs) deletion Pathogenic rs398123377 GRCh37 Chromosome 6, 129723612: 129723618
21 LAMA2 NM_000426.3(LAMA2): c.5914C> T (p.Gln1972Ter) single nucleotide variant Pathogenic rs398123378 GRCh37 Chromosome 6, 129748945: 129748945
22 LAMA2 NM_000426.3(LAMA2): c.6011delA (p.Asn2004Metfs) deletion Pathogenic rs398123379 GRCh37 Chromosome 6, 129759833: 129759833
23 LAMA2 NM_000426.3(LAMA2): c.6038delT (p.Leu2013Terfs) deletion Pathogenic rs398123380 GRCh37 Chromosome 6, 129759860: 129759860
24 LAMA2 NM_000426.3(LAMA2): c.6955C> T (p.Arg2319Ter) single nucleotide variant Pathogenic rs398123383 GRCh37 Chromosome 6, 129781432: 129781432
25 LAMA2 NM_000426.3(LAMA2): c.7279_7280delCT (p.Leu2427Valfs) deletion Pathogenic rs398123385 GRCh37 Chromosome 6, 129786413: 129786414
26 LAMA2 NM_000426.3(LAMA2): c.7536delC (p.Asp2513Ilefs) deletion Pathogenic rs398123387 GRCh37 Chromosome 6, 129799922: 129799922
27 LAMA2 NM_000426.3(LAMA2): c.9101_9104dupAACA (p.His3035Glnfs) duplication Pathogenic rs398123390 GRCh37 Chromosome 6, 129835630: 129835633
28 LAMA2 NM_000426.3(LAMA2): c.9212-1G> A single nucleotide variant Pathogenic rs398123391 GRCh37 Chromosome 6, 129837334: 129837334
29 LAMA2 NM_000426.3(LAMA2): c.1855_1856insATGTTCAC (p.Arg619Hisfs) insertion Pathogenic rs797044643 GRCh37 Chromosome 6, 129571329: 129571330
30 LAMA2 NM_000426.3(LAMA2): c.2749+1G> C single nucleotide variant Pathogenic rs759555791 GRCh37 Chromosome 6, 129609204: 129609204
31 LAMA2 NM_000426.3(LAMA2): c.5260delG (p.Val1754Terfs) deletion Pathogenic rs794727594 GRCh37 Chromosome 6, 129714215: 129714215
32 LAMA2 NM_000426.3(LAMA2): c.5562+5G> C single nucleotide variant Pathogenic rs771046502 GRCh37 Chromosome 6, 129722490: 129722490
33 LAMA2 NM_000426.3(LAMA2): c.524_534dupAGTGCCTAACG (p.Leu179Serfs) duplication Pathogenic rs797044728 GRCh37 Chromosome 6, 129419445: 129419455
34 LAMA2 NM_000426.3(LAMA2): c.7810C> T (p.Arg2604Ter) single nucleotide variant Pathogenic rs766920075 GRCh37 Chromosome 6, 129807679: 129807679
35 LAMA2 NM_000426.3(LAMA2): c.7991delG (p.Gly2664Valfs) deletion Pathogenic rs886039541 GRCh37 Chromosome 6, 129813138: 129813138
36 LAMA2 NM_000426.3(LAMA2): c.396+1G> T single nucleotide variant Pathogenic/Likely pathogenic rs770617208 GRCh37 Chromosome 6, 129381042: 129381042
37 LAMA2 NM_000426.3(LAMA2): c.444dupG (p.Pro149Alafs) duplication Pathogenic rs886042529 GRCh37 Chromosome 6, 129419365: 129419365
38 LAMA2 NM_000426.3(LAMA2): c.3979_3985dupGAAGACT (p.Phe1329Terfs) duplication Pathogenic rs886042847 GRCh37 Chromosome 6, 129637237: 129637243
39 LAMA2 NM_000426.3(LAMA2): c.4048C> T (p.Arg1350Ter) single nucleotide variant Pathogenic rs756854513 GRCh37 Chromosome 6, 129637306: 129637306
40 LAMA2 NM_000426.3(LAMA2): c.1610_1611delTA (p.Ile537Thrfs) deletion Pathogenic rs886043374 GRCh37 Chromosome 6, 129513826: 129513827
41 LAMA2 NM_000426.3(LAMA2): c.7439+1G> A single nucleotide variant Pathogenic rs886043630 GRCh37 Chromosome 6, 129794498: 129794498
42 LAMA2 NM_000426.3(LAMA2): c.817A> T (p.Arg273Ter) single nucleotide variant Pathogenic rs886043648 GRCh37 Chromosome 6, 129465223: 129465223
43 LAMA2 NM_000426.3(LAMA2): c.7155+1G> A single nucleotide variant Pathogenic rs886043692 GRCh37 Chromosome 6, 129785598: 129785598
44 LAMA2 NM_000426.3(LAMA2): c.5116C> T (p.Arg1706Ter) single nucleotide variant Pathogenic rs758775001 GRCh37 Chromosome 6, 129712680: 129712680
45 LAMA2 NM_000426.3(LAMA2): c.2352T> G (p.Tyr784Ter) single nucleotide variant Pathogenic rs886044330 GRCh37 Chromosome 6, 129591798: 129591798
46 LAMA2 NM_000426.3(LAMA2): c.1032_1042delCAATTGTCATG (p.Cys344Trpfs) deletion Pathogenic rs886044344 GRCh37 Chromosome 6, 129475654: 129475664
47 LAMA2 NM_000426.3(LAMA2): c.5605G> T (p.Glu1869Ter) single nucleotide variant Pathogenic rs746762473 GRCh37 Chromosome 6, 129723511: 129723511
48 LAMA2 NM_000426.3(LAMA2): c.397-4_478del deletion Pathogenic GRCh38 Chromosome 6, 129098169: 129098254
49 LAMA2 NM_000426.3(LAMA2): c.7452-1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 6, 129478692: 129478692
50 LAMA2 NM_000426.3(LAMA2): c.2556delT (p.Phe852Leufs) deletion Pathogenic/Likely pathogenic rs750731624 GRCh38 Chromosome 6, 129287865: 129287865

Expression for Congenital Muscular Dystrophy Type 1a

Search GEO for disease gene expression data for Congenital Muscular Dystrophy Type 1a.

Pathways for Congenital Muscular Dystrophy Type 1a

Pathways related to Congenital Muscular Dystrophy Type 1a according to KEGG:

36
# Name Kegg Source Accession
1 ECM-receptor interaction hsa04512

GO Terms for Congenital Muscular Dystrophy Type 1a

Sources for Congenital Muscular Dystrophy Type 1a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
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29 HGMD
30 HMDB
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32 ICD10
33 ICD10 via Orphanet
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36 KEGG
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42 MESH via Orphanet
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58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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