MCID: LM2001
MIFTS: 19

Lama2-Related Muscular Dystrophy malady

Categories: Genetic diseases, Muscle diseases, Rare diseases, Neuronal diseases, Cardiovascular diseases

Aliases & Classifications for Lama2-Related Muscular Dystrophy

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Aliases & Descriptions for Lama2-Related Muscular Dystrophy:

Name: Lama2-Related Muscular Dystrophy 21 22 23
Mdc1a 21 22 23 47
Laminin Alpha 2-Deficient Congenital Muscular Dystrophy 21 22
Merosin-Deficient Congenital Muscular Dystrophy Type 1a 21 22
Early-Onset Laminin Alpha 2 Deficiency 21 22
Late-Onset Laminin Alpha 2 Deficiency 21 22
Muscular Dystrophy Congenital, Merosin Negative 65
Laminin Alpha-2 Deficient Muscular Dystrophy 23
 
Muscular Dystrophy Due to Lama2 Deficiency 23
Merosin-Deficient Muscular Dystrophy 23
Laminin Alpha 2 Deficiency 23
Lama2 Md 23
Mdc 1a 22
Mdc Ia 22
Mdcia 22

Classifications:



External Ids:

UMLS65 C1263858

Summaries for Lama2-Related Muscular Dystrophy

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Genetics Home Reference:23 LAMA2-related muscular dystrophy is a disorder that causes weakness and wasting (atrophy) of muscles used for movement (skeletal muscles). This condition generally appears in one of two ways: as a severe, early-onset type or a milder, late-onset form.

MalaCards based summary: Lama2-Related Muscular Dystrophy, also known as mdc1a, is related to muscular dystrophy, congenital merosin-deficient and congenital muscular dystrophy type 1a. An important gene associated with Lama2-Related Muscular Dystrophy is LAMA2 (Laminin Subunit Alpha 2). Affiliated tissues include skeletal muscle, brain and endothelial.

GeneReviews summary for NBK97333

Related Diseases for Lama2-Related Muscular Dystrophy

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Graphical network of diseases related to Lama2-Related Muscular Dystrophy:



Diseases related to lama2-related muscular dystrophy

Symptoms for Lama2-Related Muscular Dystrophy

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Drugs & Therapeutics for Lama2-Related Muscular Dystrophy

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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 Lama2-Related Muscular Dystrophy

Genetic Tests for Lama2-Related Muscular Dystrophy

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Genetic tests related to Lama2-Related Muscular Dystrophy:

id Genetic test Affiliating Genes
1 Lama2-Related Muscular Dystrophy22 LAMA2

Anatomical Context for Lama2-Related Muscular Dystrophy

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MalaCards organs/tissues related to Lama2-Related Muscular Dystrophy:

33
Skeletal muscle, Brain, Endothelial

Animal Models for Lama2-Related Muscular Dystrophy or affiliated genes

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Publications for Lama2-Related Muscular Dystrophy

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Articles related to Lama2-Related Muscular Dystrophy:

idTitleAuthorsYear
1
Sirtuin 1 stabilization by HuR represses TNF-I+- and glucose-induced E-selectin release and endothelial cell adhesiveness in vitro: relevance to human metabolic syndrome. (24702436)
2014
2
Levetiracetam in three cases of progressive myoclonus epilepsy. (17242859)
2007
3
The similarities and differences of endometritis and pelvic inflammatory disease. (11383957)
2001

Variations for Lama2-Related Muscular Dystrophy

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Expression for genes affiliated with Lama2-Related Muscular Dystrophy

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Search GEO for disease gene expression data for Lama2-Related Muscular Dystrophy.

Pathways for genes affiliated with Lama2-Related Muscular Dystrophy

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GO Terms for genes affiliated with Lama2-Related Muscular Dystrophy

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Sources for Lama2-Related Muscular Dystrophy

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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