MCID: MSC039
MIFTS: 22

Muscular Dystrophy, Congenital Merosin-Deficient malady

Genetic diseases (common), Muscle diseases categories

Aliases & Classifications for Muscular Dystrophy, Congenital Merosin-Deficient

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

Name: Muscular Dystrophy, Congenital Merosin-Deficient 49 11
Muscular Dystrophy, Congenital, Due to Partial Lama2 Deficiency 49
 
Merosin-Deficient Congenital Muscular Dystrophy 1a 67
Mdc1a 67


Classifications:



External Ids:

OMIM49 607855

Summaries for Muscular Dystrophy, Congenital Merosin-Deficient

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OMIM:49 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 muscular dystrophy, and has symptoms including ophthalmoplegia, intellectual disability and autosomal recessive inheritance. An important gene associated with Muscular Dystrophy, Congenital Merosin-Deficient is LAMA2 (Laminin, Alpha 2). Affiliated tissues include brain.

UniProtKB/Swiss-Prot:67 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 1a10.6
2muscular dystrophy10.4
3lama2-related muscular dystrophy10.4

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 17)
id Description Frequency HPO Source Accession
1 ophthalmoplegia rare (5%) HP:0000602
2 intellectual disability rare (5%) HP:0001249
3 autosomal recessive inheritance HP:0000007
4 seizures HP:0001250
5 muscular hypotonia HP:0001252
6 motor delay HP:0001270
7 areflexia HP:0001284
8 flexion contracture HP:0001371
9 abnormal cortical gyration HP:0002536
10 respiratory insufficiency due to muscle weakness HP:0002747
11 kyphoscoliosis HP:0002751
12 elevated serum creatine phosphokinase HP:0003236
13 muscular dystrophy HP:0003560
14 congenital onset HP:0003577
15 congenital muscular dystrophy HP:0003741
16 hypointensity of cerebral white matter on mri HP:0007103
17 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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Anatomical Context for Muscular Dystrophy, Congenital Merosin-Deficient

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

33
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:

67
id Symbol AA change Variation ID SNP ID
1LAMA2p.Cys527TyrVAR_015743
2LAMA2p.Cys862ArgVAR_015744
3LAMA2p.Leu2564ProVAR_015745

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

5 (show all 41)
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
10LAMA2LAMA, 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 pathogenicrs730880252GRCh38Chr 6, 128883277: 128883277
13LAMA2NM_000426.3(LAMA2): c.5563-2A> Gsingle nucleotide variantLikely pathogenicrs786204779GRCh37Chr 6, 129723467: 129723467
14LAMA2NM_000426.3(LAMA2): c.2461A> C (p.Thr821Pro)single nucleotide variantPathogenicrs186538779GRCh38Chr 6, 129280071: 129280071
15LAMA2NM_000426.3(LAMA2): c.1855_1856insATGTTCAC (p.Arg619Hisfs)insertionPathogenicrs797044643GRCh37Chr 6, 129571329: 129571330
16LAMA2NM_000426.3(LAMA2): c.2749+1G> Csingle nucleotide variantPathogenicrs759555791GRCh37Chr 6, 129609204: 129609204
17LAMA2NM_000426.3(LAMA2): c.5260delG (p.Val1754Terfs)deletionPathogenicrs794727594GRCh37Chr 6, 129714215: 129714215
18LAMA2NM_000426.3(LAMA2): c.5562+5G> Csingle nucleotide variantPathogenicrs771046502GRCh37Chr 6, 129722490: 129722490
19LAMA2NM_000426.3(LAMA2): c.524_534dupAGTGCCTAACG (p.Leu179Serfs)duplicationPathogenicrs797044728GRCh37Chr 6, 129419445: 129419455
20LAMA2NM_000426.3(LAMA2): c.7810C> T (p.Arg2604Ter)single nucleotide variantPathogenicrs766920075GRCh37Chr 6, 129807679: 129807679
21LAMA2NM_000426.3(LAMA2): c.2049_2050delAG (p.Arg683Serfs)deletionPathogenicrs202247790GRCh37Chr 6, 129573393: 129573394
22LAMA2NM_000426.3(LAMA2): c.1854_1861dupACGTGTTC (p.Leu621Hisfs)duplicationPathogenicrs202247791GRCh37Chr 6, 129571328: 129571335
23LAMA2NM_000426.3(LAMA2): c.2049_2050delAG (p.Arg683Serfs)deletionPathogenicrs202247790GRCh37Chr 6, 129573393: 129573394
24LAMA2NM_000426.3(LAMA2): c.7881T> G (p.His2627Gln)single nucleotide variantPathogenicrs202247792GRCh37Chr 6, 129807750: 129807750
25LAMA2NM_000426.3(LAMA2): c.112+1G> Asingle nucleotide variantPathogenicrs398123367GRCh37Chr 6, 129204503: 129204503
26LAMA2NM_000426.3(LAMA2): c.184G> T (p.Gly62Ter)single nucleotide variantPathogenicrs398123368GRCh37Chr 6, 129371134: 129371134
27LAMA2NM_000426.3(LAMA2): c.2750-1G> Csingle nucleotide variantPathogenicrs9492297GRCh37Chr 6, 129612758: 129612758
28LAMA2NM_000426.3(LAMA2): c.2962C> T (p.Gln988Ter)single nucleotide variantPathogenicrs398123371GRCh37Chr 6, 129618935: 129618935
29LAMA2NM_000426.3(LAMA2): c.3630delT (p.Ile1210Metfs)deletionPathogenicrs398123372GRCh37Chr 6, 129636695: 129636695
30LAMA2NM_000426.3(LAMA2): c.3976C> T (p.Arg1326Ter)single nucleotide variantPathogenicrs398123373GRCh37Chr 6, 129637234: 129637234
31LAMA2NM_000426.3(LAMA2): c.4523+1G> Asingle nucleotide variantPathogenicrs398123375GRCh37Chr 6, 129670530: 129670530
32LAMA2NM_000426.3(LAMA2): c.5050G> T (p.Glu1684Ter)single nucleotide variantPathogenicrs201632009GRCh37Chr 6, 129704357: 129704357
33LAMA2NM_000426.3(LAMA2): c.5706_5712delCTCATCT (p.Asp1902Glufs)deletionPathogenicrs398123377GRCh37Chr 6, 129723612: 129723618
34LAMA2NM_000426.3(LAMA2): c.5914C> T (p.Gln1972Ter)single nucleotide variantPathogenicrs398123378GRCh37Chr 6, 129748945: 129748945
35LAMA2NM_000426.3(LAMA2): c.6011delA (p.Asn2004Metfs)deletionPathogenicrs398123379GRCh37Chr 6, 129759833: 129759833
36LAMA2NM_000426.3(LAMA2): c.6038delT (p.Leu2013Terfs)deletionPathogenicrs398123380GRCh37Chr 6, 129759860: 129759860
37LAMA2NM_000426.3(LAMA2): c.6955C> T (p.Arg2319Ter)single nucleotide variantPathogenicrs398123383GRCh37Chr 6, 129781432: 129781432
38LAMA2NM_000426.3(LAMA2): c.7279_7280delCT (p.Leu2427Valfs)deletionPathogenicrs398123385GRCh37Chr 6, 129786413: 129786414
39LAMA2NM_000426.3(LAMA2): c.7536delC (p.Asp2513Ilefs)deletionPathogenicrs398123387GRCh37Chr 6, 129799922: 129799922
40LAMA2NM_000426.3(LAMA2): c.9101_9104dupAACA (p.His3035Glnfs)duplicationPathogenicrs398123390GRCh38Chr 6, 129514485: 129514488
41LAMA2NM_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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet