MCID: MSC040

Muscular Dystrophy, Congenital, Due to Partial Lama2 Deficiency malady

Muscle diseases category

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

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46OMIM, 32MalaCards
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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:46 607855

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

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46OMIM
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Classifications:

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


Aliases & Descriptions:

muscular dystrophy, congenital, due to partial lama2 deficiency 46


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

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Clinical Features for Muscular Dystrophy, Congenital, Due to Partial Lama2 Deficiency

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46OMIM
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Clinical features from OMIM:

607855

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

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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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Genetic Variations for Muscular Dystrophy, Congenital, Due to Partial Lama2 Deficiency

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Muscular Dystrophy, Congenital, Due to Partial Lama2 Deficiency:

62
id Symbol AA change Variation ID SNP ID
1LAMA2p.Cys527TyrVAR_015743
2LAMA2p.Cys862ArgVAR_015744
3LAMA2p.Leu2564ProVAR_015745

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

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Muscular Dystrophy, Congenital, Due to Partial Lama2 Deficiency

Search GEO for disease gene expression data for Muscular Dystrophy, Congenital, Due to Partial Lama2 Deficiency.

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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet