MCID: CNG112
MIFTS: 24

Congenital Muscular Dystrophy Type 1a malady

Neuronal, Cardiovascular, Muscle, Genetic categories

Summaries for Congenital Muscular Dystrophy Type 1a

Sources:
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 merosin-deficient congenital muscular dystrophy, is related to fukuyama congenital muscular dystrophy and fukuyama type muscular dystrophy. An important gene associated with Congenital Muscular Dystrophy Type 1a is LAMA2 (laminin, alpha 2).

Description from OMIM:47 607855

Aliases & Classifications for Congenital Muscular Dystrophy Type 1a

Sources:
61UMLS, 43NIH Rare Diseases, 49Orphanet, 22GTR, 47OMIM, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic
Anatomical: Neuronal, Cardiovascular, Muscle


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
merosin-deficient congenital muscular dystrophy 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 61
cardiomyopathy, familial idiopathic 61
lama2-related muscular dystrophy 43
congenital muscular dystrophy 61
laminin alpha-2 deficiency 43
cmd1a 49


External Ids:

OMIM47 607855
ICD10 via Orphanet26 G71.2

Related Diseases for Congenital Muscular Dystrophy Type 1a

Sources:
17GeneCards, 18GeneDecks
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Diseases in the congenital muscular dystrophy family:

muscular dystrophy congenital muscular dystrophy type 1a
muscular dystrophy - late onset muscular dystrophy, congenital, 1b
muscular dystrophy with rimmed vacuoles congenital muscular dystrophy with hyperlaxity
congenital muscular dystrophy without intellectual disability

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

(show top 50)    (show all 94)
idRelated DiseaseScoreTop Affiliating Genes
1fukuyama congenital muscular dystrophy11.2
2fukuyama type muscular dystrophy11.1
3ullrich congenital muscular dystrophy11.0
4muscular dystrophy, congenital, merosin-positive10.7
5mental retardation10.7
6walker-warburg syndrome10.6
7bethlem myopathy10.6
8myopathy congenital10.5
9ocular muscular dystrophy10.5
10protein s deficiency10.4
11protein c deficiency10.4
12rigid spine syndrome10.4
13muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 1110.4
14muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 810.4
15lissencephaly10.4
16limb-girdle muscular dystrophy10.4
17muscular atrophy10.4
18brain disease10.4
19muscular dystrophy-dystroglycanopathy , type b, 1410.4
20muscular dystrophy-dystroglycanopathy , type b, 110.4
21muscular dystrophy-dystroglycanopathy10.3
22congenital muscular dystrophy syringomyelia10.3
23muscular dystrophy, congenital, infantile with cataract and hypogonadism10.3
24muscular dystrophy, congenital, megaconial type10.3
25congenital muscular dystrophy, lmna-related10.3
26congenital muscular dystrophy due to integrin alpha-7 deficiency10.3
27muscular dystrophy, congenital, 1b10.3
28muscular dystrophy-dystroglycanopathy , type a, 110.3
29cataract, congenital10.3
30lama2-related muscular dystrophy10.3
31epidermolysis bullosa simplex10.2
32polymicrogyria10.2
33salih myopathy10.2
34cerebellar hypoplasia10.2
35congenital contractures10.2
36protein r deficiency10.2
37muscular dystrophy, rigid spine, 110.2
38muscular dystrophy-dystroglycanopathy , type a, 310.2
39muscular dystrophy-dystroglycanopathy , type b, 310.2
40muscular dystrophy-dystroglycanopathy , type a, 710.2
41muscular dystrophy-dystroglycanopathy , type a, 1210.2
42muscular dystrophy-dystroglycanopathy , type b, 410.2
43muscular dystrophy-dystroglycanopathy , type c, 110.2
44muscular dystrophy, congenital, due to itga7 deficiency10.2
45muscular dystrophy-dystroglycanopathy , type a, 1010.2
46muscular dystrophy-dystroglycanopathy , type a, 210.2
47muscular dystrophy-dystroglycanopathy , type b, 210.2
48muscular dystrophy-dystroglycanopathy , type a, 510.2
49muscular dystrophy-dystroglycanopathy , type b, 510.2
50muscular dystrophy-dystroglycanopathy , type a, 610.2

Graphical network of the top 20 diseases related to Congenital Muscular Dystrophy Type 1a:



Diseases related to congenital muscular dystrophy type 1a

Clinical Features for Congenital Muscular Dystrophy Type 1a

Sources:
47OMIM
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Clinical features from OMIM:

607855

Clinical synopsis from OMIM:

607855

Drugs & Therapeutics for Congenital Muscular Dystrophy Type 1a

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Congenital Muscular Dystrophy Type 1a

Sources:
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

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

Sources:
28inGenious Targeting Laboratory
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Publications for Congenital Muscular Dystrophy Type 1a

Genetic Variations for Congenital Muscular Dystrophy Type 1a

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Congenital Muscular Dystrophy Type 1a:

63
id Symbol AA change Variation SNP ID
1LAMA2p.Cys527TyrVAR_015743
2LAMA2p.Cys862ArgVAR_015744
3LAMA2p.Leu2564ProVAR_015745

Expression for genes affiliated with Congenital Muscular Dystrophy Type 1a

Sources:
1BioGPS, 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

Compounds for genes affiliated with Congenital Muscular Dystrophy Type 1a

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

Products for genes affiliated with Congenital Muscular Dystrophy Type 1a

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Congenital Muscular Dystrophy Type 1a

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet