MCID: MSC039
MIFTS: 25

Muscular Dystrophy, Congenital Merosin-Deficient malady

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

Aliases & Classifications for Muscular Dystrophy, Congenital Merosin-Deficient

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Sources:
50OMIM, 12diseasecard, 25GTR, 52Orphanet, 68UniProtKB/Swiss-Prot, 66UMLS, 29ICD10 via Orphanet, 67UMLS via Orphanet, 35MedGen, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Muscular Dystrophy, Congenital Merosin-Deficient:

Name: Muscular Dystrophy, Congenital Merosin-Deficient 50 12
Muscular Dystrophy, Congenital, Due to Partial Lama2 Deficiency 50 25
Mdc1a 52 68
Congenital Muscular Dystrophy Due to Laminin Alpha2 Deficiency 52
Muscular Dystrophy, Congenital Merosin-Deficient, 1a 50
Merosin-Deficient Congenital Muscular Dystrophy 1a 68
 
Muscular Dystrophy Congenital, Merosin Negative 66
Merosin-Negative Congenital Muscular Dystrophy 52
Congenital Muscular Dystrophy Type 1a 52
Cardiomyopathy, Familial Idiopathic 66
Cmd1a 52

Characteristics:

Orphanet epidemiological data:

52
mdc1a:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Neonatal; Age of death: adolescent,late childhood

HPO:

62
muscular dystrophy, congenital merosin-deficient:
Inheritance: autosomal recessive inheritance
Onset and clinical course: congenital onset


Classifications:



External Ids:

OMIM50 607855
Orphanet52 ORPHA258
ICD10 via Orphanet29 G71.2
UMLS via Orphanet67 C1263858

Summaries for Muscular Dystrophy, Congenital Merosin-Deficient

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OMIM:50 Merosin-deficient congenital muscular dystrophy is an autosomal recessive form of muscular dystrophy characterized by... (607855) more...

MalaCards based summary: Muscular Dystrophy, Congenital Merosin-Deficient, also known as muscular dystrophy, congenital, due to partial lama2 deficiency, is related to congenital muscular dystrophy type 1a and cardiomyopathy, dilated, 1a, and has symptoms including ophthalmoplegia, intellectual disability and seizures. An important gene associated with Muscular Dystrophy, Congenital Merosin-Deficient is LAMA2 (Laminin Subunit Alpha 2). Affiliated tissues include brain.

UniProtKB/Swiss-Prot:68 Merosin-deficient congenital muscular dystrophy 1A: Characterized by difficulty walking, hypotonia, proximal weakness, hyporeflexia, and white matter hypodensity on MRI.

Related Diseases for Muscular Dystrophy, Congenital Merosin-Deficient

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Diseases related to Muscular Dystrophy, Congenital Merosin-Deficient via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1congenital muscular dystrophy type 1a11.5
2cardiomyopathy, dilated, 1a10.9
3lmna-related dilated cardiomyopathy10.9
4cardiomyopathy, dilated, 1l10.0

Symptoms for Muscular Dystrophy, Congenital Merosin-Deficient

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Symptoms by clinical synopsis from OMIM:

607855

Clinical features from OMIM:

607855

HPO human phenotypes related to Muscular Dystrophy, Congenital Merosin-Deficient:

(show all 15)
id Description Frequency HPO Source Accession
1 ophthalmoplegia rare (5%) HP:0000602
2 intellectual disability rare (5%) HP:0001249
3 seizures HP:0001250
4 muscular hypotonia HP:0001252
5 motor delay HP:0001270
6 areflexia HP:0001284
7 flexion contracture HP:0001371
8 abnormal cortical gyration HP:0002536
9 respiratory insufficiency due to muscle weakness HP:0002747
10 kyphoscoliosis HP:0002751
11 elevated serum creatine phosphokinase HP:0003236
12 muscular dystrophy HP:0003560
13 congenital muscular dystrophy HP:0003741
14 hypointensity of cerebral white matter on mri HP:0007103
15 feeding difficulties in infancy HP:0008872

Drugs & Therapeutics for Muscular Dystrophy, Congenital Merosin-Deficient

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Congenital Muscle Disease Study of Patient and Family Reported Medical InformationRecruitingNCT01403402
2LAMA2-related Muscular Dystrophy Brain StudyWithdrawnNCT01952028

Search NIH Clinical Center for Muscular Dystrophy, Congenital Merosin-Deficient

Genetic Tests for Muscular Dystrophy, Congenital Merosin-Deficient

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Genetic tests related to Muscular Dystrophy, Congenital Merosin-Deficient:

id Genetic test Affiliating Genes
1 Congenital Muscular Dystrophy Due to Partial Lama2 Deficiency25

Anatomical Context for Muscular Dystrophy, Congenital Merosin-Deficient

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MalaCards organs/tissues related to Muscular Dystrophy, Congenital Merosin-Deficient:

34
Brain

Animal Models for Muscular Dystrophy, Congenital Merosin-Deficient or affiliated genes

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Publications for Muscular Dystrophy, Congenital Merosin-Deficient

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Variations for Muscular Dystrophy, Congenital Merosin-Deficient

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UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy, Congenital Merosin-Deficient:

68
id Symbol AA change Variation ID SNP ID
1LAMA2p.Cys527TyrVAR_015743rs121913574
2LAMA2p.Cys862ArgVAR_015744rs121913573
3LAMA2p.Leu2564ProVAR_015745rs121913570
4LAMA2p.Gly2889ArgVAR_076560

Clinvar genetic disease variations for Muscular Dystrophy, Congenital Merosin-Deficient:

5 (show all 42)
id Gene Variation Type Significance SNP ID Assembly Location
1LAMA2LAMA2, IVS30, A-T, -2single nucleotide variantPathogenic
2LAMA2NM_000426.3(LAMA2): c.3718C> T (p.Gln1240Ter)single nucleotide variantPathogenicrs121913569GRCh37Chr 6, 129636783: 129636783
3LAMA2NM_000426.3(LAMA2): c.9253C> T (p.Arg3085Ter)single nucleotide variantPathogenicrs121913571GRCh37Chr 6, 129837376: 129837376
4LAMA2LAMA2, 1-BP DEL, 8314AdeletionPathogenic
5LAMA2NM_000426.3(LAMA2): c.7691T> C (p.Leu2564Pro)single nucleotide variantPathogenicrs121913570GRCh37Chr 6, 129802526: 129802526
6LAMA2LAMA2, 2-BP DEL, 2098AGdeletionPathogenic
7LAMA2NM_000426.3(LAMA2): c.7732C> T (p.Arg2578Ter)single nucleotide variantPathogenicrs121913572GRCh37Chr 6, 129802567: 129802567
8LAMA2NM_000426.3(LAMA2): c.7147C> T (p.Arg2383Ter)single nucleotide variantPathogenicrs121913576GRCh37Chr 6, 129785589: 129785589
9LAMA2NM_000426.3(LAMA2): c.2901C> A (p.Cys967Ter)single nucleotide variantPathogenicrs121913577GRCh37Chr 6, 129618874: 129618874
10LAMA, 1-BP DEL, 825CdeletionPathogenic
11LAMA2NM_000426.3(LAMA2): c.7750-1713_7899-2153del4987deletionPathogenicGRCh37Chr 6, 129805906: 129810893
12LAMA2NM_000426.3(LAMA2): c.32T> C (p.Leu11Pro)single nucleotide variantLikely pathogenicrs730880252GRCh37Chr 6, 129204422: 129204422
13LAMA2NM_000426.3(LAMA2): c.5563-2A> Gsingle nucleotide variantLikely pathogenicrs786204779GRCh38Chr 6, 129402322: 129402322
14LAMA2NM_000426.3(LAMA2): c.1855_1856insATGTTCAC (p.Arg619Hisfs)insertionPathogenicrs797044643GRCh37Chr 6, 129571329: 129571330
15LAMA2NM_000426.3(LAMA2): c.2749+1G> Csingle nucleotide variantPathogenicrs759555791GRCh37Chr 6, 129609204: 129609204
16LAMA2NM_000426.3(LAMA2): c.5260delG (p.Val1754Terfs)deletionPathogenicrs794727594GRCh37Chr 6, 129714215: 129714215
17LAMA2NM_000426.3(LAMA2): c.5562+5G> Csingle nucleotide variantPathogenicrs771046502GRCh37Chr 6, 129722490: 129722490
18LAMA2NM_000426.3(LAMA2): c.524_534dupAGTGCCTAACG (p.Leu179Serfs)duplicationPathogenicrs797044728GRCh37Chr 6, 129419445: 129419455
19LAMA2NM_000426.3(LAMA2): c.7810C> T (p.Arg2604Ter)single nucleotide variantPathogenicrs766920075GRCh37Chr 6, 129807679: 129807679
20LAMA2NM_000426.3(LAMA2): c.2049_2050delAG (p.Arg683Serfs)deletionPathogenicrs202247790GRCh37Chr 6, 129573393: 129573394
21LAMA2NM_000426.3(LAMA2): c.715C> T (p.Arg239Cys)single nucleotide variantLikely pathogenicrs145465528GRCh38Chr 6, 129143976: 129143976
22LAMA2NM_000426.3(LAMA2): c.9253C> T (p.Arg3085Ter)single nucleotide variantPathogenicrs121913571GRCh37Chr 6, 129837376: 129837376
23LAMA2NM_000426.3(LAMA2): c.1854_1861dupACGTGTTC (p.Leu621Hisfs)duplicationPathogenicrs202247791GRCh37Chr 6, 129571328: 129571335
24LAMA2NM_000426.3(LAMA2): c.2049_2050delAG (p.Arg683Serfs)deletionPathogenicrs202247790GRCh37Chr 6, 129573393: 129573394
25LAMA2NM_000426.3(LAMA2): c.7881T> G (p.His2627Gln)single nucleotide variantPathogenicrs202247792GRCh37Chr 6, 129807750: 129807750
26LAMA2NM_000426.3(LAMA2): c.112+1G> Asingle nucleotide variantPathogenicrs398123367GRCh37Chr 6, 129204503: 129204503
27LAMA2NM_000426.3(LAMA2): c.184G> T (p.Gly62Ter)single nucleotide variantPathogenicrs398123368GRCh37Chr 6, 129371134: 129371134
28LAMA2NM_000426.3(LAMA2): c.2750-1G> Csingle nucleotide variantPathogenicrs9492297GRCh37Chr 6, 129612758: 129612758
29LAMA2NM_000426.3(LAMA2): c.2962C> T (p.Gln988Ter)single nucleotide variantPathogenicrs398123371GRCh37Chr 6, 129618935: 129618935
30LAMA2NM_000426.3(LAMA2): c.3630delT (p.Ile1210Metfs)deletionPathogenicrs398123372GRCh37Chr 6, 129636695: 129636695
31LAMA2NM_000426.3(LAMA2): c.3976C> T (p.Arg1326Ter)single nucleotide variantPathogenicrs398123373GRCh37Chr 6, 129637234: 129637234
32LAMA2NM_000426.3(LAMA2): c.4523+1G> Asingle nucleotide variantPathogenicrs398123375GRCh37Chr 6, 129670530: 129670530
33LAMA2NM_000426.3(LAMA2): c.5050G> T (p.Glu1684Ter)single nucleotide variantPathogenicrs201632009GRCh37Chr 6, 129704357: 129704357
34LAMA2NM_000426.3(LAMA2): c.5706_5712delCTCATCT (p.Asp1902Glufs)deletionPathogenicrs398123377GRCh37Chr 6, 129723612: 129723618
35LAMA2NM_000426.3(LAMA2): c.5914C> T (p.Gln1972Ter)single nucleotide variantPathogenicrs398123378GRCh37Chr 6, 129748945: 129748945
36LAMA2NM_000426.3(LAMA2): c.6011delA (p.Asn2004Metfs)deletionPathogenicrs398123379GRCh37Chr 6, 129759833: 129759833
37LAMA2NM_000426.3(LAMA2): c.6038delT (p.Leu2013Terfs)deletionPathogenicrs398123380GRCh37Chr 6, 129759860: 129759860
38LAMA2NM_000426.3(LAMA2): c.6955C> T (p.Arg2319Ter)single nucleotide variantPathogenicrs398123383GRCh37Chr 6, 129781432: 129781432
39LAMA2NM_000426.3(LAMA2): c.7279_7280delCT (p.Leu2427Valfs)deletionPathogenicrs398123385GRCh37Chr 6, 129786413: 129786414
40LAMA2NM_000426.3(LAMA2): c.7536delC (p.Asp2513Ilefs)deletionPathogenicrs398123387GRCh37Chr 6, 129799922: 129799922
41LAMA2NM_000426.3(LAMA2): c.9101_9104dupAACA (p.His3035Glnfs)duplicationPathogenicrs398123390GRCh38Chr 6, 129514485: 129514488
42LAMA2NM_000426.3(LAMA2): c.9212-1G> Asingle nucleotide variantPathogenicrs398123391GRCh37Chr 6, 129837334: 129837334

Expression for genes affiliated with Muscular Dystrophy, Congenital Merosin-Deficient

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Search GEO for disease gene expression data for Muscular Dystrophy, Congenital Merosin-Deficient.

Pathways for genes affiliated with Muscular Dystrophy, Congenital Merosin-Deficient

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GO Terms for genes affiliated with Muscular Dystrophy, Congenital Merosin-Deficient

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Sources for Muscular Dystrophy, Congenital Merosin-Deficient

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet