MCID: MSC039
MIFTS: 29

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:
12diseasecard, 27GTR, 31ICD10 via Orphanet, 37MedGen, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

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

Name: Muscular Dystrophy, Congenital Merosin-Deficient 52 12
Muscular Dystrophy, Congenital, Due to Partial Lama2 Deficiency 52 27
Mdc1a 54 70
Congenital Muscular Dystrophy Due to Laminin Alpha2 Deficiency 54
Muscular Dystrophy, Congenital Merosin-Deficient, 1a 52
Merosin-Deficient Congenital Muscular Dystrophy 1a 70
 
Muscular Dystrophy Congenital, Merosin Negative 68
Merosin-Negative Congenital Muscular Dystrophy 54
Congenital Muscular Dystrophy Type 1a 54
Cardiomyopathy, Familial Idiopathic 68
Cmd1a 54

Characteristics:

Orphanet epidemiological data:

54
mdc1a:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Neonatal; Age of death: adolescent,late childhood

HPO:

64
muscular dystrophy, congenital merosin-deficient:
Inheritance: autosomal recessive inheritance
Onset and clinical course: congenital onset

Classifications:



External Ids:

OMIM52 607855
Orphanet54 ORPHA258
UMLS via Orphanet69 C1263858
ICD10 via Orphanet31 G71.2

Summaries for Muscular Dystrophy, Congenital Merosin-Deficient

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OMIM:52 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 lama2-related muscular dystrophy, 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 and tongue.

UniProtKB/Swiss-Prot:70 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 1a11.3
2lama2-related muscular dystrophy11.1
3cardiomyopathy, dilated, 1a11.0
4cardiomyopathy, dilated, 1l10.9
5lmna-related dilated cardiomyopathy10.8

Graphical network of diseases related to Muscular Dystrophy, Congenital Merosin-Deficient:



Diseases related to muscular dystrophy, congenital merosin-deficient

Symptoms & Phenotypes for Muscular Dystrophy, Congenital Merosin-Deficient

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Symptoms by clinical synopsis from OMIM:

607855

Clinical features from OMIM:

607855

Human phenotypes related to Muscular Dystrophy, Congenital Merosin-Deficient:

 64 54 (show all 59)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ophthalmoplegia64 rare (5%) HP:0000602
2 intellectual disability64 54 rare (5%) Frequent (79-30%) HP:0001249
3 seizures64 54 Frequent (79-30%) HP:0001250
4 muscular hypotonia64 54 Very frequent (99-80%) HP:0001252
5 motor delay64 54 Very frequent (99-80%) HP:0001270
6 areflexia64 HP:0001284
7 flexion contracture64 54 Frequent (79-30%) HP:0001371
8 abnormal cortical gyration64 HP:0002536
9 respiratory insufficiency due to muscle weakness64 HP:0002747
10 kyphoscoliosis64 HP:0002751
11 elevated serum creatine phosphokinase64 HP:0003236
12 muscular dystrophy64 54 Very frequent (99-80%) HP:0003560
13 congenital muscular dystrophy64 54 Very frequent (99-80%) HP:0003741
14 hypointensity of cerebral white matter on mri64 HP:0007103
15 feeding difficulties in infancy64 HP:0008872
16 muscle weakness54 Very frequent (99-80%)
17 weak cry54 Very frequent (99-80%)
18 abnormality of metabolism/homeostasis54 Very frequent (99-80%)
19 gastroesophageal reflux54 Very frequent (99-80%)
20 hypokinesia54 Very frequent (99-80%)
21 inability to walk54 Very frequent (99-80%)
22 respiratory failure54 Very frequent (99-80%)
23 increased connective tissue54 Very frequent (99-80%)
24 highly elevated creatine phosphokinase54 Very frequent (99-80%)
25 muscle fiber atrophy54 Very frequent (99-80%)
26 myositis54 Very frequent (99-80%)
27 macroglossia54 Frequent (79-30%)
28 respiratory insufficiency54 Frequent (79-30%)
29 cerebral edema54 Frequent (79-30%)
30 astrocytosis54 Frequent (79-30%)
31 recurrent lower respiratory tract infections54 Frequent (79-30%)
32 aspiration54 Frequent (79-30%)
33 chewing difficulties54 Frequent (79-30%)
34 facial palsy54 Frequent (79-30%)
35 abnormality of the temporomandibular joint54 Frequent (79-30%)
36 abnormal brainstem mri signal intensity54 Frequent (79-30%)
37 open mouth54 Occasional (29-5%)
38 abnormality of visual evoked potentials54 Occasional (29-5%)
39 pachygyria54 Occasional (29-5%)
40 neonatal hypotonia54 Occasional (29-5%)
41 lissencephaly54 Occasional (29-5%)
42 cardiomyopathy54 Occasional (29-5%)
43 dysphagia54 Occasional (29-5%)
44 myopathic facies54 Occasional (29-5%)
45 absence seizures54 Occasional (29-5%)
46 scoliosis54 Occasional (29-5%)
47 hypoventilation54 Occasional (29-5%)
48 hyperlordosis54 Occasional (29-5%)
49 decreased body weight54 Occasional (29-5%)
50 intercostal muscle weakness54 Occasional (29-5%)
51 pontocerebellar atrophy54 Occasional (29-5%)
52 sensorimotor neuropathy54 Occasional (29-5%)
53 focal seizures54 Occasional (29-5%)
54 protruding tongue54 Occasional (29-5%)
55 arrhythmia54 Occasional (29-5%)
56 reduced ejection fraction54 Occasional (29-5%)
57 cognitive impairment54 Occasional (29-5%)
58 atelectasis54 Occasional (29-5%)
59 pulmonary hypertension54 Very rare (<4-1%)

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 Deficiency27

Anatomical Context for Muscular Dystrophy, Congenital Merosin-Deficient

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

36
Brain, Tongue

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:

70
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 53)
id Gene Variation Type Significance SNP ID Assembly Location
1LAMA2LAMA2, IVS30, A-T, -2SNVPathogenicChr na, -1: -1
2LAMA2NM_000426.3(LAMA2): c.3718C> T (p.Gln1240Ter)SNVPathogenicrs121913569GRCh37Chr 6, 129636783: 129636783
3LAMA2LAMA2, 1-BP DEL, 8314AdeletionPathogenicChr na, -1: -1
4LAMA2LAMA2, 2-BP DEL, 2098AGdeletionPathogenicChr na, -1: -1
5LAMA2NM_000426.3(LAMA2): c.7732C> T (p.Arg2578Ter)SNVPathogenicrs121913572GRCh37Chr 6, 129802567: 129802567
6LAMA2NM_000426.3(LAMA2): c.7147C> T (p.Arg2383Ter)SNVPathogenicrs121913576GRCh37Chr 6, 129785589: 129785589
7LAMA2NM_000426.3(LAMA2): c.2901C> A (p.Cys967Ter)SNVPathogenicrs121913577GRCh37Chr 6, 129618874: 129618874
8LAMA1;LAMA2LAMA, 1-BP DEL, 825CdeletionPathogenicChr na, -1: -1
9LAMA2NM_000426.3(LAMA2): c.7750-1713_7899-2153del4987deletionPathogenicGRCh37Chr 6, 129805906: 129810893
10LAMA2NM_000426.3(LAMA2): c.32T> C (p.Leu11Pro)SNVLikely pathogenicrs730880252GRCh37Chr 6, 129204422: 129204422
11LAMA2NM_000426.3(LAMA2): c.5563-2A> GSNVLikely pathogenicrs786204779GRCh37Chr 6, 129723467: 129723467
12LAMA2NM_000426.3(LAMA2): c.1855_1856insATGTTCAC (p.Arg619Hisfs)insertionPathogenicrs797044643GRCh37Chr 6, 129571329: 129571330
13LAMA2NM_000426.3(LAMA2): c.2749+1G> CSNVPathogenicrs759555791GRCh37Chr 6, 129609204: 129609204
14LAMA2NM_000426.3(LAMA2): c.5260delG (p.Val1754Terfs)deletionPathogenicrs794727594GRCh37Chr 6, 129714215: 129714215
15LAMA2NM_000426.3(LAMA2): c.5562+5G> CSNVPathogenicrs771046502GRCh37Chr 6, 129722490: 129722490
16LAMA2NM_000426.3(LAMA2): c.524_534dupAGTGCCTAACG (p.Leu179Serfs)duplicationPathogenicrs797044728GRCh37Chr 6, 129419445: 129419455
17LAMA2NM_000426.3(LAMA2): c.7810C> T (p.Arg2604Ter)SNVPathogenicrs766920075GRCh37Chr 6, 129807679: 129807679
18LAMA2NM_000426.3(LAMA2): c.2049_2050delAG (p.Arg683Serfs)deletion, CompoundHeterozygotePathogenicrs202247790GRCh37Chr 6, 129573393: 129573394
19LAMA2NM_000426.3(LAMA2): c.715C> T (p.Arg239Cys)SNVLikely pathogenicrs145465528GRCh38Chr 6, 129143976: 129143976
20LAMA2NM_000426.3(LAMA2): c.9253C> T (p.Arg3085Ter)SNV, CompoundHeterozygotePathogenicrs121913571GRCh37Chr 6, 129837376: 129837376
21LAMA2NM_000426.3(LAMA2): c.7991delG (p.Gly2664Valfs)deletionPathogenicrs886039541GRCh37Chr 6, 129813138: 129813138
22LAMA2NM_000426.3(LAMA2): c.6993_7155del163 (p.Ser2331Argfs)deletionLikely pathogenicGRCh37Chr 6, 129785435: 129785597
23LAMA2NM_000426.3(LAMA2): c.396+1G> TSNVPathogenicrs770617208GRCh37Chr 6, 129381042: 129381042
24LAMA2NM_000426.3(LAMA2): c.444dupG (p.Pro149Alafs)duplicationPathogenicrs886042529GRCh37Chr 6, 129419365: 129419365
25LAMA2NM_000426.3(LAMA2): c.3979_3985dupGAAGACT (p.Phe1329Terfs)duplicationPathogenicrs886042847GRCh37Chr 6, 129637237: 129637243
26LAMA2NM_000426.3(LAMA2): c.4048C> T (p.Arg1350Ter)SNVPathogenicrs756854513GRCh37Chr 6, 129637306: 129637306
27LAMA2NM_000426.3(LAMA2): c.1610_1611delTA (p.Ile537Thrfs)deletionPathogenicrs886043374GRCh37Chr 6, 129513826: 129513827
28LAMA2NM_000426.3(LAMA2): c.7439+1G> ASNVPathogenicrs886043630GRCh37Chr 6, 129794498: 129794498
29LAMA2NM_000426.3(LAMA2): c.817A> T (p.Arg273Ter)SNVPathogenicrs886043648GRCh37Chr 6, 129465223: 129465223
30LAMA2NM_000426.3(LAMA2): c.7155+1G> ASNVPathogenicrs886043692GRCh37Chr 6, 129785598: 129785598
31LAMA2NM_000426.3(LAMA2): c.5116C> T (p.Arg1706Ter)SNVPathogenicrs758775001GRCh37Chr 6, 129712680: 129712680
32LAMA2NM_000426.3(LAMA2): c.2352T> G (p.Tyr784Ter)SNVPathogenicrs886044330GRCh37Chr 6, 129591798: 129591798
33LAMA2NM_000426.3(LAMA2): c.1032_1042delCAATTGTCATG (p.Cys344Trpfs)deletionPathogenicrs886044344GRCh37Chr 6, 129475654: 129475664
34LAMA2NM_000426.3(LAMA2): c.5605G> T (p.Glu1869Ter)SNVPathogenicrs746762473GRCh37Chr 6, 129723511: 129723511
35LAMA2NM_000426.3(LAMA2): c.1854_1861dupACGTGTTC (p.Leu621Hisfs)duplicationPathogenicrs202247791GRCh37Chr 6, 129571328: 129571335
36LAMA2NM_000426.3(LAMA2): c.7881T> G (p.His2627Gln)SNVPathogenicrs202247792GRCh37Chr 6, 129807750: 129807750
37LAMA2NM_000426.3(LAMA2): c.112+1G> ASNVPathogenicrs398123367GRCh37Chr 6, 129204503: 129204503
38LAMA2NM_000426.3(LAMA2): c.184G> T (p.Gly62Ter)SNVPathogenicrs398123368GRCh37Chr 6, 129371134: 129371134
39LAMA2NM_000426.3(LAMA2): c.2750-1G> CSNVPathogenicrs9492297GRCh37Chr 6, 129612758: 129612758
40LAMA2NM_000426.3(LAMA2): c.2962C> T (p.Gln988Ter)SNVPathogenicrs398123371GRCh37Chr 6, 129618935: 129618935
41LAMA2NM_000426.3(LAMA2): c.3630delT (p.Ile1210Metfs)deletionPathogenicrs398123372GRCh37Chr 6, 129636695: 129636695
42LAMA2NM_000426.3(LAMA2): c.3976C> T (p.Arg1326Ter)SNVPathogenicrs398123373GRCh37Chr 6, 129637234: 129637234
43LAMA2NM_000426.3(LAMA2): c.4523+1G> ASNVPathogenicrs398123375GRCh37Chr 6, 129670530: 129670530
44LAMA2NM_000426.3(LAMA2): c.5050G> T (p.Glu1684Ter)SNVPathogenicrs201632009GRCh37Chr 6, 129704357: 129704357
45LAMA2NM_000426.3(LAMA2): c.5706_5712delCTCATCT (p.Asp1902Glufs)deletionPathogenicrs398123377GRCh37Chr 6, 129723612: 129723618
46LAMA2NM_000426.3(LAMA2): c.5914C> T (p.Gln1972Ter)SNVPathogenicrs398123378GRCh37Chr 6, 129748945: 129748945
47LAMA2NM_000426.3(LAMA2): c.6011delA (p.Asn2004Metfs)deletionPathogenicrs398123379GRCh37Chr 6, 129759833: 129759833
48LAMA2NM_000426.3(LAMA2): c.6038delT (p.Leu2013Terfs)deletionPathogenicrs398123380GRCh37Chr 6, 129759860: 129759860
49LAMA2NM_000426.3(LAMA2): c.6955C> T (p.Arg2319Ter)SNVPathogenicrs398123383GRCh37Chr 6, 129781432: 129781432
50LAMA2NM_000426.3(LAMA2): c.7279_7280delCT (p.Leu2427Valfs)deletionPathogenicrs398123385GRCh37Chr 6, 129786413: 129786414
51LAMA2NM_000426.3(LAMA2): c.7536delC (p.Asp2513Ilefs)deletionPathogenicrs398123387GRCh37Chr 6, 129799922: 129799922
52LAMA2NM_000426.3(LAMA2): c.9101_9104dupAACA (p.His3035Glnfs)duplicationPathogenicrs398123390GRCh37Chr 6, 129835630: 129835633
53LAMA2NM_000426.3(LAMA2): c.9212-1G> ASNVPathogenicrs398123391GRCh37Chr 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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet