MCID: MSC040

Muscular Dystrophy, Congenital, Due to Partial Lama2 Deficiency malady

Genetic diseases (common), Muscle diseases categories

Summaries for Muscular Dystrophy, Congenital, Due to Partial Lama2 Deficiency

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48OMIM, 34MalaCards
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MalaCards: Muscular Dystrophy, Congenital, Due to Partial Lama2 Deficiency An important gene associated with Muscular Dystrophy, Congenital, Due to Partial Lama2 Deficiency is LAMA2 (laminin, alpha 2).

Description from OMIM:48 607855

Aliases & Classifications for Muscular Dystrophy, Congenital, Due to Partial Lama2 Deficiency

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48OMIM
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Classifications:

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


Aliases & Descriptions:

muscular dystrophy, congenital, due to partial lama2 deficiency 48


Related Diseases for Muscular Dystrophy, Congenital, Due to Partial Lama2 Deficiency

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Symptoms for Muscular Dystrophy, Congenital, Due to Partial Lama2 Deficiency

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48OMIM
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Clinical features from OMIM:

607855

Drugs & Therapeutics for Muscular Dystrophy, Congenital, Due to Partial Lama2 Deficiency

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Muscular Dystrophy, Congenital, Due to Partial Lama2 Deficiency

Drug clinical trials:

Search ClinicalTrials for Muscular Dystrophy, Congenital, Due to Partial Lama2 Deficiency

Search NIH Clinical Center for Muscular Dystrophy, Congenital, Due to Partial Lama2 Deficiency

Search CenterWatch for Muscular Dystrophy, Congenital, Due to Partial Lama2 Deficiency

Genetic Tests for Muscular Dystrophy, Congenital, Due to Partial Lama2 Deficiency

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Anatomical Context for Muscular Dystrophy, Congenital, Due to Partial Lama2 Deficiency

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Animal Models for Muscular Dystrophy, Congenital, Due to Partial Lama2 Deficiency or affiliated genes

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Publications for Muscular Dystrophy, Congenital, Due to Partial Lama2 Deficiency

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Variations for Muscular Dystrophy, Congenital, Due to Partial Lama2 Deficiency

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy, Congenital, Due to Partial Lama2 Deficiency:

65
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, Due to Partial Lama2 Deficiency:

1 (show all 13)
id Gene Name 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, Due to Partial Lama2 Deficiency

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Muscular Dystrophy, Congenital, Due to Partial Lama2 Deficiency

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Pathways for genes affiliated with Muscular Dystrophy, Congenital, Due to Partial Lama2 Deficiency

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Compounds for genes affiliated with Muscular Dystrophy, Congenital, Due to Partial Lama2 Deficiency

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GO Terms for genes affiliated with Muscular Dystrophy, Congenital, Due to Partial Lama2 Deficiency

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Products for genes affiliated with Muscular Dystrophy, Congenital, Due to Partial Lama2 Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Muscular Dystrophy, Congenital, Due to Partial Lama2 Deficiency

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet