MCID: CNG112
MIFTS: 25

Congenital Muscular Dystrophy Type 1a malady

Genetic diseases, Rare diseases, Neuronal diseases, Cardiovascular diseases, Muscle diseases, Metabolic diseases categories

Summaries for Congenital Muscular Dystrophy Type 1a

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NIH Rare Diseases:41 Congenital muscular dystrophy type 1a (mdc1a) belongs to a group of neuromuscular disorders that beings at birth or infancy and is characterized mainly by hypotonia, muscle weakness and muscle wasting. other signs and symptoms include rigidity of the spine; scoliosis; and delayed, limited motor development, with most individuals needing assistive devices for mobility. respiratory problems, feeding disorders and seizures may also occur. with time, affected individuals may develop an elongated face and ophthalmoplegia disorders (paralysis or weakness in muscles of the eye). intellectual development is typically normal. the prognosis is poor, as many affected children do not reach adolescence. it is caused by mutations in the lama2 gene and is inherited in an autosomal recessive manner. treatment is generally symptomatic and includes a multidisciplinary approach. last updated: 9/26/2011

MalaCards based summary: Congenital Muscular Dystrophy Type 1a, also known as congenital muscular dystrophy due to laminin alpha2 deficiency, is related to muscular dystrophy and muscular dystrophy, congenital merosin-deficient. An important gene associated with Congenital Muscular Dystrophy Type 1a is LAMA2 (laminin, alpha 2). Affiliated tissues include eye.

Aliases & Classifications for Congenital Muscular Dystrophy Type 1a

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Sources:
41NIH Rare Diseases, 47Orphanet, 22GTR, 60UMLS, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Congenital Muscular Dystrophy Type 1a, Aliases & Descriptions:

Name: Congenital Muscular Dystrophy Type 1a 41 47
Congenital Muscular Dystrophy Due to Laminin Alpha2 Deficiency 41 47
Muscular Dystrophy, Congenital, Merosin-Deficient 41 22
Merosin-Negative Congenital Muscular Dystrophy 41 47
Cmd1a 41 47
Mdc1a 41 47
 
Muscular Dystrophy Congenital, Merosin Negative 60
Merosin-Deficient Congenital Muscular Dystrophy 41
Cardiomyopathy, Familial Idiopathic 60
Lama2-Related Muscular Dystrophy 41
Laminin Alpha-2 Deficiency 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
congenital muscular dystrophy due to laminin alpha2 deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Neonatal; Age of death: adolescent,late childhood


External Ids:

Orphanet47 258
ICD10 via Orphanet26 G71.2
UMLS via Orphanet61 C1263858

Related Diseases for Congenital Muscular Dystrophy Type 1a

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Graphical network of diseases related to Congenital Muscular Dystrophy Type 1a:



Diseases related to congenital muscular dystrophy type 1a

Symptoms for Congenital Muscular Dystrophy Type 1a

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Drugs & Therapeutics for Congenital Muscular Dystrophy Type 1a

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Drug clinical trials:

Search ClinicalTrials for Congenital Muscular Dystrophy Type 1a

Search NIH Clinical Center for Congenital Muscular Dystrophy Type 1a

Genetic Tests for Congenital Muscular Dystrophy Type 1a

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Genetic tests related to Congenital Muscular Dystrophy Type 1a:

id Genetic test Affiliating Genes
1 Merosin Deficient Congenital Muscular Dystrophy22

Anatomical Context for Congenital Muscular Dystrophy Type 1a

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MalaCards organs/tissues related to Congenital Muscular Dystrophy Type 1a:

31
Eye

Animal Models for Congenital Muscular Dystrophy Type 1a or affiliated genes

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Publications for Congenital Muscular Dystrophy Type 1a

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Articles related to Congenital Muscular Dystrophy Type 1a:

idTitleAuthorsYear
1
Congenital muscular dystrophy type 1A with residual merosin expression. (24778697)
2014
2
Merosin-deficient congenital muscular dystrophy type 1A: A case report. (24223650)
2013
3
Transgenic overexpression of the I+7 integrin reduces muscle pathology and improves viability in the dy(W) mouse model of merosin-deficient congenital muscular dystrophy type 1A. (21652631)
2011
4
Muscle-specific expression of insulin-like growth factor 1 improves outcome in Lama2Dy-w mice, a model for congenital muscular dystrophy type 1A. (21441569)
2011
5
Intrinsic laryngeal muscles are spared from degeneration in the dy3K/dy3K mouse model of congenital muscular dystrophy type 1A. (19086066)
2009
6
Merosin-deficient congenital muscular dystrophy type 1A. (18516331)
2008

Variations for Congenital Muscular Dystrophy Type 1a

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Clinvar genetic disease variations for Congenital Muscular Dystrophy Type 1a:

6 (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 Congenital Muscular Dystrophy Type 1a

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Search GEO for disease gene expression data for Congenital Muscular Dystrophy Type 1a.

Pathways for genes affiliated with Congenital Muscular Dystrophy Type 1a

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Compounds for genes affiliated with Congenital Muscular Dystrophy Type 1a

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GO Terms for genes affiliated with Congenital Muscular Dystrophy Type 1a

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Products for genes affiliated with Congenital Muscular Dystrophy Type 1a

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Sources for Congenital Muscular Dystrophy Type 1a

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet