MCID: CNG112
MIFTS: 34

Congenital Muscular Dystrophy Type 1a malady

Genetic diseases, Rare diseases, Neuronal diseases, Cardiovascular diseases, Muscle diseases categories
Download this MalaCard

Summaries for Congenital Muscular Dystrophy Type 1a

About this section


Fully expand this MalaCard
NIH Rare Diseases:42 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 mdc1a, is related to congenital muscular dystrophy and muscular dystrophy, and has symptoms including An important gene associated with Congenital Muscular Dystrophy Type 1a is LAMA2 (laminin, alpha 2). Affiliated tissues include eye.

Description from OMIM:46 607855

Aliases & Classifications for Congenital Muscular Dystrophy Type 1a

About this section
Sources:
62UMLS, 42NIH Rare Diseases, 48Orphanet, 22GTR, 46OMIM, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Congenital Muscular Dystrophy Type 1a, Aliases & Descriptions:

Name: Congenital Muscular Dystrophy Type 1a 42 48
Mdc1a 42 48 62
Muscular Dystrophy, Congenital, Merosin-Deficient 42 22
Merosin-Negative Congenital Muscular Dystrophy 42 48
Congenital Muscular Dystrophy Due to Laminin Alpha2 Deficiency 48
Muscular Dystrophy, Congenital Merosin-Deficient 46
Muscular Dystrophy Congenital, Merosin Negative 62
 
Merosin-Deficient Congenital Muscular Dystrophy 42
Cardiomyopathy, Familial Idiopathic 62
Lama2-Related Muscular Dystrophy 42
Congenital Muscular Dystrophy 62
Laminin Alpha-2 Deficiency 42
Cmd1a 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
mdc1a:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy; Age of death: Child / adolescent


External Ids:

OMIM46 607855
ICD10 via Orphanet26 G71.2
UMLS via Orphanet63 C1263858

Related Diseases for Congenital Muscular Dystrophy Type 1a

About this section

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 15)
idRelated DiseaseScoreTop Affiliating Genes
1congenital muscular dystrophy10.7
2muscular dystrophy10.7
3mental retardation10.7
4cerebritis10.6
5neuropathy10.6
6diabetes mellitus10.4
7walker-warburg syndrome10.4
8myocarditis10.4
9peripheral neuropathy10.4
10polymicrogyria10.4
11laryngitis10.3
12lama2-related muscular dystrophy10.3
13myopathy10.3
14cardiomyopathy, dilated, 1l10.1
15cardiomyopathy, 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

About this section

Symptoms by clinical synopsis from OMIM:

607855

Clinical features from OMIM:

607855

HPO human phenotypes related to Congenital Muscular Dystrophy Type 1a:

(show all 16)
id Description Frequency HPO Source Accession
1 intellectual disability rare (5%) HP:0001249
2 autosomal recessive inheritance HP:0000007
3 seizures HP:0001250
4 muscular hypotonia HP:0001252
5 motor delay HP:0001270
6 areflexia HP:0001284
7 flexion contracture HP:0001371
8 abnormal cortical gyration HP:0002536
9 respiratory insufficiency due to muscle weakness HP:0002747
10 kyphoscoliosis HP:0002751
11 elevated serum creatine phosphokinase HP:0003236
12 muscular dystrophy HP:0003560
13 congenital onset HP:0003577
14 congenital muscular dystrophy HP:0003741
15 hypointensity of cerebral white matter on mri HP:0007103
16 feeding difficulties in infancy HP:0008872

Drugs & Therapeutics for Congenital Muscular Dystrophy Type 1a

About this section

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

About this section

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

About this section

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

32
Eye

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

About this section

Publications for Congenital Muscular Dystrophy Type 1a

About this section

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

About this section

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:

6 (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

About this section
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

About this section

Compounds for genes affiliated with Congenital Muscular Dystrophy Type 1a

About this section

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

About this section

Products for genes affiliated with Congenital Muscular Dystrophy Type 1a

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Congenital Muscular Dystrophy Type 1a

About this section
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet