MCID: CNG112
MIFTS: 31

Congenital Muscular Dystrophy Type 1a malady

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

Aliases & Classifications for Congenital Muscular Dystrophy Type 1a

Aliases & Descriptions for Congenital Muscular Dystrophy Type 1a:

Name: Congenital Muscular Dystrophy Type 1a 50
Muscular Dystrophy, Congenital, Merosin-Deficient 50 29
Merosin-Deficient Congenital Muscular Dystrophy 50
Muscular Dystrophy Congenital, Merosin Negative 69
Merosin-Negative Congenital Muscular Dystrophy 50
Lama2-Related Muscular Dystrophy 50
Laminin Alpha-2 Deficiency 50
Mdc1a 50

Classifications:



Summaries for Congenital Muscular Dystrophy Type 1a

NIH Rare Diseases : 50 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 muscular dystrophy, congenital, merosin-deficient, is related to lama2-related muscular dystrophy and muscular dystrophy, congenital merosin-deficient, and has symptoms including intellectual disability, scoliosis and hyperlordosis. An important gene associated with Congenital Muscular Dystrophy Type 1a is LAMA2 (Laminin Subunit Alpha 2). The drugs Vitamin C and 4-des-dimethylaminotetracycline have been mentioned in the context of this disorder. Affiliated tissues include eye and tongue.

Related Diseases for Congenital Muscular Dystrophy Type 1a

Diseases in the Muscular Dystrophy family:

Muscular Dystrophy, Congenital Muscular Dystrophy, Congenital, 1b
Congenital Muscular Dystrophy Due to Lmna Mutation Lama2-Related Muscular Dystrophy
Congenital Muscular Dystrophy Due to Dystroglycanopathy Congenital Muscular Dystrophy Type 1a
Progressive Muscular Dystrophy

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

id Related Disease Score Top Affiliating Genes
1 lama2-related muscular dystrophy 11.2
2 muscular dystrophy, congenital merosin-deficient 11.0
3 muscular dystrophy 10.4
4 leigh syndrome 9.9
5 laryngitis 9.9

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:

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

Drugs & Therapeutics for Congenital Muscular Dystrophy Type 1a

Drugs for Congenital Muscular Dystrophy Type 1a (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vitamin C Approved, Nutraceutical Phase 2, Phase 3 50-81-7 5785 54670067
2 4-des-dimethylaminotetracycline Phase 2, Phase 3
3 Antioxidants Phase 2, Phase 3
4 Micronutrients Phase 2, Phase 3
5 Protective Agents Phase 2, Phase 3
6 Trace Elements Phase 2, Phase 3
7 Vitamins Phase 2, Phase 3
8
Menthol Approved 2216-51-5 16666
9 HIV Protease Inhibitors
10 Matrix Metalloproteinase Inhibitors
11
protease inhibitors

Interventional clinical trials:


id Name Status NCT ID Phase
1 High Dose Ascorbic Acid Treatment of CMT1A Completed NCT00484510 Phase 2, Phase 3
2 Genetics of Charcot Marie Tooth (CMT) - Modifiers of CMT1A, New Causes of CMT2 Unknown status NCT01193088
3 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402
4 Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome Recruiting NCT01144741
5 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:

id Genetic test Affiliating Genes
1 Merosin Deficient Congenital Muscular Dystrophy 29

Anatomical Context for Congenital Muscular Dystrophy Type 1a

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

39
Eye, Tongue

Publications for Congenital Muscular Dystrophy Type 1a

Articles related to Congenital Muscular Dystrophy Type 1a:

id Title Authors Year
1
Bioenergetic Impairment in Congenital Muscular Dystrophy Type 1A and Leigh Syndrome Muscle Cells. ( 28367954 )
2017
2
Mesoangioblast delivery of miniagrin ameliorates murine model of merosin-deficient congenital muscular dystrophy type 1A. ( 26347253 )
2015
3
Congenital muscular dystrophy type 1A with residual merosin expression. ( 24778697 )
2014
4
Merosin-deficient congenital muscular dystrophy type 1A: A case report. ( 24223650 )
2013
5
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
6
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
7
Intrinsic laryngeal muscles are spared from degeneration in the dy3K/dy3K mouse model of congenital muscular dystrophy type 1A. ( 19086066 )
2009
8
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 47)
id 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 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

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

GO Terms for Congenital Muscular Dystrophy Type 1a

Sources for Congenital Muscular Dystrophy Type 1a

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