MCID: MSC039
MIFTS: 16

Muscular Dystrophy, Congenital Merosin-Deficient malady

Genetic diseases (common), Muscle diseases categories

Summaries for Muscular Dystrophy, Congenital Merosin-Deficient

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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 has symptoms including intellectual disability, autosomal recessive inheritance and seizures. An important gene associated with Muscular Dystrophy, Congenital Merosin-Deficient is LAMA2 (laminin, alpha 2).

Description from OMIM:47 607855

Aliases & Classifications for Muscular Dystrophy, Congenital Merosin-Deficient

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

Name: Muscular Dystrophy, Congenital Merosin-Deficient 47 11
 
Muscular Dystrophy, Congenital, Due to Partial Lama2 Deficiency 47


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)
Anatomical: Muscle diseases


External Ids:

OMIM47 607855

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/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1congenital muscular dystrophy type 1a10.6

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 16)
id Description Frequency HPO Source Accession
1 intellectual disability rare (5%) HP:0001249
2 autosomal recessive inheritance HP:0000007
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 onset HP:0003577
14 congenital muscular dystrophy HP:0003741
15 hypointensity of cerebral white matter on mri HP:0007103
16 feeding difficulties in infancy HP:0008872

Drugs & Therapeutics for Muscular Dystrophy, Congenital Merosin-Deficient

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Drug clinical trials:

Search ClinicalTrials for Muscular Dystrophy, Congenital Merosin-Deficient

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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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:

64
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:

7 (show all 13)
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.2901C> A (p.Cys967Ter)single nucleotide variantPathogenicrs121913577GRCh37Chr 6, 129618874: 129618874
9LAMA2LAMA, 1-BP DEL, 825CdeletionPathogenic
10LAMA2NM_000426.3(LAMA2): c.7750-1713_7899-2153del4987deletionPathogenicGRCh37Chr 6, 129805906: 129810893
11LAMA2NM_000426.3(LAMA2): c.1854_1861dupACGTGTTC (p.Leu621Hisfs)duplicationPathogenicrs202247791GRCh37Chr 6, 129571328: 129571335
12LAMA2NM_000426.3(LAMA2): c.2049_2050delAG (p.Arg683Serfs)deletionPathogenicrs202247790GRCh37Chr 6, 129573393: 129573394
13LAMA2NM_000426.3(LAMA2): c.7881T> G (p.His2627Gln)single nucleotide variantPathogenicrs202247792GRCh37Chr 6, 129807750: 129807750

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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Compounds 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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Products for genes affiliated with Muscular Dystrophy, Congenital Merosin-Deficient

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Sources for Muscular Dystrophy, Congenital Merosin-Deficient

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet