MCID: CNG112
MIFTS: 33

Congenital Muscular Dystrophy Type 1a malady

Neuronal diseases, Cardiovascular diseases, Muscle diseases, Genetic diseases categories

Summaries for Congenital Muscular Dystrophy Type 1a

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42NIH Rare Diseases, 46OMIM, 32MalaCards
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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: Congenital Muscular Dystrophy Type 1a, also known as merosin-deficient congenital muscular dystrophy, is related to ullrich congenital muscular dystrophy and fukuyama type muscular dystrophy. 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

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60UMLS, 42NIH Rare Diseases, 48Orphanet, 22GTR, 46OMIM, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
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 42 48
merosin-deficient congenital muscular dystrophy 42 22
merosin-negative congenital muscular dystrophy 42 48
mdc1a 42 48
congenital muscular dystrophy due to laminin alpha2 deficiency 48
muscular dystrophy, congenital merosin-deficient 46
muscular dystrophy congenital, merosin negative 60
cardiomyopathy, familial idiopathic 60
lama2-related muscular dystrophy 42
congenital muscular dystrophy 60
laminin alpha-2 deficiency 42
cmd1a 48


External Ids:

OMIM46 607855
ICD10 via Orphanet26 G71.2
SNOMED-CT via Orphanet57 111503008

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 top 50)    (show all 90)
idRelated DiseaseScoreTop Affiliating Genes
1ullrich congenital muscular dystrophy11.0
2fukuyama type muscular dystrophy10.7
3bethlem myopathy10.5
4myopathy10.5
5neuropathy10.5
6neuronitis10.5
7limb-girdle muscular dystrophy10.4
8focal epilepsy10.4
9cerebritis10.4
10fukuyama congenital muscular dystrophy10.4
11walker-warburg syndrome10.4
12myocarditis10.4
13peripheral neuropathy10.4
14polymicrogyria10.4
15lissencephaly10.4
16muscular atrophy10.4
17brain disease10.4
18eye disease10.4
19muscular dystrophy-dystroglycanopathy , type b, 1410.4
20muscular dystrophy-dystroglycanopathy , type b, 110.4
21cataract10.3
22epidermolysis bullosa10.3
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 b, 410.3
29muscular dystrophy-dystroglycanopathy , type a, 110.3
30lama2-related muscular dystrophy10.3
31familial dilated cardiomyopathy10.2
32epidermolysis bullosa simplex10.2
33congenital nervous system abnormality10.2
34hydrocephalus10.2
35salih myopathy10.2
36congenital muscular dystrophy syringomyelia10.2
37muscular dystrophy-dystroglycanopathy , type a, 310.2
38muscular dystrophy-dystroglycanopathy , type b, 310.2
39muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 1110.2
40muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 810.2
41muscular dystrophy-dystroglycanopathy , type a, 710.2
42muscular dystrophy-dystroglycanopathy , type a, 1210.2
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

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46OMIM
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Clinical features from OMIM:

607855

Clinical synopsis from OMIM:

607855

Drugs & Therapeutics for Congenital Muscular Dystrophy Type 1a

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5CenterWatch, 41NIH 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

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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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32MalaCards
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MalaCards organs/tissues related to Congenital Muscular Dystrophy Type 1a:

32
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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Genetic Variations for Congenital Muscular Dystrophy Type 1a

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Congenital Muscular Dystrophy Type 1a:

62
id Symbol AA change Variation ID SNP ID
1LAMA2p.Cys527TyrVAR_015743
2LAMA2p.Cys862ArgVAR_015744
3LAMA2p.Leu2564ProVAR_015745

Expression for genes affiliated with Congenital Muscular Dystrophy Type 1a

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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

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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
  • Proteins
  • Lysates
  • Antibodies

Sources for Congenital Muscular Dystrophy Type 1a

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet