MCID: CNG112
MIFTS: 33

Congenital Muscular Dystrophy Type 1a malady

Genetic diseases, Rare diseases, Neuronal diseases, Cardiovascular diseases, Muscle diseases categories
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Summaries for Congenital Muscular Dystrophy Type 1a

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43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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: Congenital Muscular Dystrophy Type 1a, also known as muscular dystrophy, congenital, merosin-deficient, is related to congenital muscular dystrophy and muscular dystrophy. An important gene associated with Congenital Muscular Dystrophy Type 1a is LAMA2 (laminin, alpha 2). Affiliated tissues include eye.

Description from OMIM:47 607855

Aliases & Classifications for Congenital Muscular Dystrophy Type 1a

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62UMLS, 43NIH Rare Diseases, 49Orphanet, 22GTR, 47OMIM, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
merosin-negative congenital muscular dystrophy:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy; Age of death: Child / adolescent


Aliases & Descriptions:

congenital muscular dystrophy type 1a 43 49
muscular dystrophy, congenital, merosin-deficient 43 22
merosin-negative congenital muscular dystrophy 43 49
mdc1a 43 49
congenital muscular dystrophy due to laminin alpha2 deficiency 49
muscular dystrophy, congenital merosin-deficient 47
muscular dystrophy congenital, merosin negative 62
merosin-deficient congenital muscular dystrophy 43
cardiomyopathy, familial idiopathic 62
lama2-related muscular dystrophy 43
congenital muscular dystrophy 62
laminin alpha-2 deficiency 43
cmd1a 49


External Ids:

OMIM47 607855
ICD10 via Orphanet26 G71.2
SNOMED-CT via Orphanet59 111503008
UMLS via Orphanet63 C1263858

Related Diseases for Congenital Muscular Dystrophy Type 1a

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17GeneCards, 18GeneDecks
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Diseases in the Congenital Muscular Dystrophy family:

Muscular Dystrophy Lama2-Related Muscular Dystrophy
congenital muscular dystrophy type 1a Muscular Dystrophy - Late Onset
Congenital Muscular Dystrophy, Lmna-Related Muscular Dystrophy, Congenital, 1b

Diseases related to Congenital Muscular Dystrophy Type 1a via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 13)
idRelated DiseaseScoreTop Affiliating Genes
1congenital muscular dystrophy10.7
2muscular dystrophy10.7
3mental retardation10.6
4neuropathy10.6
5cerebritis10.4
6walker-warburg syndrome10.4
7myocarditis10.4
8peripheral neuropathy10.4
9polymicrogyria10.4
10laryngitis10.3
11lama2-related muscular dystrophy10.3
12cardiomyopathy, dilated, 1l10.1
13cardiomyopathy, dilated, 1n10.1

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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47OMIM
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Symptoms by clinical synopsis from OMIM:

607855

Clinical features from OMIM:

607855

Drugs & Therapeutics for Congenital Muscular Dystrophy Type 1a

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42NIH Clinical Center, 6ClinicalTrials
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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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22GTR
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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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33MalaCards
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MalaCards organs/tissues related to Congenital Muscular Dystrophy Type 1a:

33
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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52PubMed
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Articles related to Congenital Muscular Dystrophy Type 1a:

idTitleAuthorsYear
1
Merosin-deficient congenital muscular dystrophy type 1A: A case report. (24223650)
2013
2
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
3
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
4
Intrinsic laryngeal muscles are spared from degeneration in the dy3K/dy3K mouse model of congenital muscular dystrophy type 1A. (19086066)
2009
5
Merosin-deficient congenital muscular dystrophy type 1A. (18516331)
2008

Variations for Congenital Muscular Dystrophy Type 1a

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Congenital Muscular Dystrophy Type 1a:

64
id Symbol AA change Variation ID SNP ID
1LAMA2p.Cys527TyrVAR_015743
2LAMA2p.Cys862ArgVAR_015744
3LAMA2p.Leu2564ProVAR_015745

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

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 Congenital Muscular Dystrophy Type 1a

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Congenital Muscular Dystrophy Type 1a

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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  • Antibodies
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  • Antibodies

Sources for Congenital Muscular Dystrophy Type 1a

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet