MDC1A
MCID: MSC039
MIFTS: 45

Muscular Dystrophy, Congenital Merosin-Deficient (MDC1A) malady

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Muscle diseases, Cardiovascular diseases

Aliases & Classifications for Muscular Dystrophy, Congenital Merosin-Deficient

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 27GTR, 30ICD10, 31ICD10 via Orphanet, 37MedGen, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Muscular Dystrophy, Congenital Merosin-Deficient:

Name: Muscular Dystrophy, Congenital Merosin-Deficient 52 12
Mdc1a 11 54 70 50
Muscular Dystrophy, Congenital, Due to Partial Lama2 Deficiency 52 27
Congenital Muscular Dystrophy Due to Laminin Alpha2 Deficiency 11 54
Congenital Merosin-Deficient Muscular Dystrophy 1a 11 13
Merosin-Negative Congenital Muscular Dystrophy 11 54
 
Cmd1a 11 54
Muscular Dystrophy, Congenital Merosin-Deficient, 1a 52
Merosin-Deficient Congenital Muscular Dystrophy 1a 70
Muscular Dystrophy Congenital, Merosin Negative 68
Congenital Muscular Dystrophy Type 1a 54
Cardiomyopathy, Familial Idiopathic 68

Characteristics:

Orphanet epidemiological data:

54
mdc1a:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Neonatal; Age of death: adolescent,late childhood

HPO:

64
muscular dystrophy, congenital merosin-deficient:
Inheritance: autosomal recessive inheritance
Onset and clinical course: congenital onset

Classifications:



External Ids:

OMIM52 607855
Disease Ontology11 DOID:0110636
ICD1030 G71.2
Orphanet54 ORPHA258
UMLS via Orphanet69 C1263858
ICD10 via Orphanet31 G71.2

Summaries for Muscular Dystrophy, Congenital Merosin-Deficient

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OMIM:52 Merosin-deficient congenital muscular dystrophy is an autosomal recessive form of muscular dystrophy characterized by... (607855) more...

MalaCards based summary: Muscular Dystrophy, Congenital Merosin-Deficient, also known as MDC1A, is related to congenital muscular dystrophy type 1a and cardiomyopathy, dilated, 1a, and has symptoms including Array, Array and Array. An important gene associated with Muscular Dystrophy, Congenital Merosin-Deficient is LAMA2 (Laminin Subunit Alpha 2), and among its related pathways are Primary Focal Segmental Glomerulosclerosis FSGS and ECM-receptor interaction. Affiliated tissues include brain and tongue, and related mouse phenotypes are behavior/neurological and growth/size/body region.

Disease Ontology:11 A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscle weakness that is apparent at birth or in the first 6 months of life and frequent development of periventricular white matter abnormalities that has material basis in homozygous or compound heterozygous mutation in the LAMA2 gene on chromosome 6q22.

UniProtKB/Swiss-Prot:70 Merosin-deficient congenital muscular dystrophy 1A: Characterized by difficulty walking, hypotonia, proximal weakness, hyporeflexia, and white matter hypodensity on MRI.

Related Diseases for Muscular Dystrophy, Congenital Merosin-Deficient

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Diseases related to Muscular Dystrophy, Congenital Merosin-Deficient via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 38)
idRelated DiseaseScoreTop Affiliating Genes
1congenital muscular dystrophy type 1a11.3
2cardiomyopathy, dilated, 1a10.9
3cardiomyopathy, dilated, 1l10.9
4lmna-related dilated cardiomyopathy10.8
5gabrg2-related generalized epilepsy with febrile seizures plus10.1FKTN, LAMA2
6cubitus valgus with mental retardation and unusual facies10.1DMD, LAMA2
7muscular dystrophy, rigid spine, 110.1DMD, LAMA2
8dystonia 2710.0LAMA2, LMNA
9cardiomyopathy, familial restrictive, 310.0DAG1, DMD, LAMA2
10eif2b1-related childhood ataxia with central nervous system hypomyelination/vanishing white matter9.9DMD, SGCA
11cone-rod dystrophy, prph2-related9.9DAG1, DMD, FKTN
12prosthetic joint infection9.9DMD, SGCA
13pervasive developmental disorder9.9DMD, LMNA
14myopathy, distal, with anterior tibial onset9.9DMD, SGCA
15ullrich congenital muscular dystrophy 19.9DMD, LAMA2, LMNA
16parametrium malignant neoplasm9.9DMD, LAMA2, LMNA
17microcephaly and chorioretinopathy 29.9DMD, LMNA
18autosomal recessive limb-girdle muscular dystrophy type 2h9.9DMD, SGCA
19autosomal recessive nonsyndromic deafness 479.8DAG1, DMD, FKTN, LAMA2
20cardiomyopathy, dilated, 1aa, with or without lvnc9.8DAG1, DMD, FKTN, LAMA2
21cardiomyopathy, dilated, 1x9.8DAG1, DMD, FKTN, LAMA2
22thrombocytopenia, x-linked9.8DMD, LAMA2, SGCA
23pancreatic agenesis 19.8DAG1, DMD, SGCA
24sdhc-related paraganglioma and gastric stromal sarcoma9.8DAG1, DMD, SGCA
25immunodeficiency 34, mycobacteriosis, x-linked9.7DAG1, DMD, SGCA
26lipodystrophy, familial partial, 29.7DAG1, DMD, LAMA2, LMNA
27familial partial lipodystrophy9.7DMD, LMNA, SGCA
28malignant hyperthermia susceptibility9.7LMNA, SGCA
29dermatofibrosarcoma protuberans9.6AGRN, DAG1, DMD, FKTN, LAMA2
30muscular dystrophy, limb-girdle, type 1b9.6DAG1, DMD, FKTN, LAMA2, LMNA
31myasthenia gravis, limb-girdle9.5DAG1, DMD, FKTN, LAMA2, SGCA
32cerebral angioma9.5DAG1, DMD, FKTN, LAMA2, SGCA
33glycogen storage disease 0, muscle9.4AGRN, DAG1, DMD, FKTN, LAMA2, LMNA
34autosomal dominant nonsyndromic deafness9.3AGRN, DAG1, DMD, FKTN, LAMA2, SGCA
35central corneal ulcer9.3DAG1, DMD, FKTN, LAMA2, LMNA, SGCA
36cdkl5-related angelman-like syndrome9.2DAG1, DMD, FKTN, LAMA2, LMNA, SGCA
37emery-dreifuss muscular dystrophy, dominant type9.2DAG1, DMD, FKTN, LAMA2, LMNA, SGCA
38sudden infant death with dysgenesis of the testes syndrome9.1AGRN, DAG1, DMD, FKTN, LAMA2, LMNA

Graphical network of the top 20 diseases related to Muscular Dystrophy, Congenital Merosin-Deficient:



Diseases related to muscular dystrophy, congenital merosin-deficient

Symptoms & Phenotypes for Muscular Dystrophy, Congenital Merosin-Deficient

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Symptoms by clinical synopsis from OMIM:

607855

Clinical features from OMIM:

607855

Human phenotypes related to Muscular Dystrophy, Congenital Merosin-Deficient:

 54 64 (show all 59)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia64 54 Very frequent (99-80%) HP:0001252
2 motor delay64 54 Very frequent (99-80%) HP:0001270
3 muscle weakness54 Very frequent (99-80%)
4 weak cry54 Very frequent (99-80%)
5 abnormality of metabolism/homeostasis54 Very frequent (99-80%)
6 gastroesophageal reflux54 Very frequent (99-80%)
7 hypokinesia54 Very frequent (99-80%)
8 inability to walk54 Very frequent (99-80%)
9 respiratory failure54 Very frequent (99-80%)
10 muscular dystrophy64 54 Very frequent (99-80%) HP:0003560
11 congenital muscular dystrophy64 54 Very frequent (99-80%) HP:0003741
12 increased connective tissue54 Very frequent (99-80%)
13 highly elevated creatine phosphokinase54 Very frequent (99-80%)
14 muscle fiber atrophy54 Very frequent (99-80%)
15 myositis54 Very frequent (99-80%)
16 macroglossia54 Frequent (79-30%)
17 intellectual disability64 54 Frequent (79-30%) HP:0001249
18 seizures64 54 Frequent (79-30%) HP:0001250
19 flexion contracture64 54 Frequent (79-30%) HP:0001371
20 respiratory insufficiency54 Frequent (79-30%)
21 cerebral edema54 Frequent (79-30%)
22 astrocytosis54 Frequent (79-30%)
23 recurrent lower respiratory tract infections54 Frequent (79-30%)
24 aspiration54 Frequent (79-30%)
25 chewing difficulties54 Frequent (79-30%)
26 facial palsy54 Frequent (79-30%)
27 abnormality of the temporomandibular joint54 Frequent (79-30%)
28 abnormal brainstem mri signal intensity54 Frequent (79-30%)
29 open mouth54 Occasional (29-5%)
30 abnormality of visual evoked potentials54 Occasional (29-5%)
31 pachygyria54 Occasional (29-5%)
32 neonatal hypotonia54 Occasional (29-5%)
33 lissencephaly54 Occasional (29-5%)
34 cardiomyopathy54 Occasional (29-5%)
35 dysphagia54 Occasional (29-5%)
36 myopathic facies54 Occasional (29-5%)
37 absence seizures54 Occasional (29-5%)
38 scoliosis54 Occasional (29-5%)
39 hypoventilation54 Occasional (29-5%)
40 hyperlordosis54 Occasional (29-5%)
41 decreased body weight54 Occasional (29-5%)
42 intercostal muscle weakness54 Occasional (29-5%)
43 pontocerebellar atrophy54 Occasional (29-5%)
44 sensorimotor neuropathy54 Occasional (29-5%)
45 focal seizures54 Occasional (29-5%)
46 protruding tongue54 Occasional (29-5%)
47 arrhythmia54 Occasional (29-5%)
48 reduced ejection fraction54 Occasional (29-5%)
49 cognitive impairment54 Occasional (29-5%)
50 atelectasis54 Occasional (29-5%)
51 pulmonary hypertension54 Very rare (<4-1%)
52 ophthalmoplegia64 HP:0000602
53 areflexia64 HP:0001284
54 abnormal cortical gyration64 HP:0002536
55 respiratory insufficiency due to muscle weakness64 HP:0002747
56 kyphoscoliosis64 HP:0002751
57 elevated serum creatine phosphokinase64 HP:0003236
58 hypointensity of cerebral white matter on mri64 HP:0007103
59 feeding difficulties in infancy64 HP:0008872

MGI Mouse Phenotypes related to Muscular Dystrophy, Congenital Merosin-Deficient according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.4AGRN, DAG1, DMD, FKTN, LAMA2, LMNA
2MP:00053788.4AGRN, DAG1, DMD, FKTN, LAMA2, LMNA
3MP:00053858.4AGRN, DAG1, DMD, LMNA, SGCA
4MP:00036317.6AGRN, DAG1, DMD, FKTN, LAMA2, LMNA
5MP:00053767.5AGRN, DAG1, DMD, FKTN, LAMA2, LMNA
6MP:00053697.5AGRN, DAG1, DMD, FKTN, LAMA2, LMNA

Drugs & Therapeutics for Muscular Dystrophy, Congenital Merosin-Deficient

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Congenital Muscle Disease Study of Patient and Family Reported Medical InformationRecruitingNCT01403402
2LAMA2-related Muscular Dystrophy Brain StudyWithdrawnNCT01952028

Search NIH Clinical Center for Muscular Dystrophy, Congenital Merosin-Deficient

Genetic Tests for Muscular Dystrophy, Congenital Merosin-Deficient

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Genetic tests related to Muscular Dystrophy, Congenital Merosin-Deficient:

id Genetic test Affiliating Genes
1 Congenital Muscular Dystrophy Due to Partial Lama2 Deficiency27

Anatomical Context for Muscular Dystrophy, Congenital Merosin-Deficient

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MalaCards organs/tissues related to Muscular Dystrophy, Congenital Merosin-Deficient:

36
Brain, Tongue

Publications for Muscular Dystrophy, Congenital Merosin-Deficient

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Variations for Muscular Dystrophy, Congenital Merosin-Deficient

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UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy, Congenital Merosin-Deficient:

70
id Symbol AA change Variation ID SNP ID
1LAMA2p.Cys527TyrVAR_015743rs121913574
2LAMA2p.Cys862ArgVAR_015744rs121913573
3LAMA2p.Leu2564ProVAR_015745rs121913570
4LAMA2p.Gly2889ArgVAR_076560

Clinvar genetic disease variations for Muscular Dystrophy, Congenital Merosin-Deficient:

5 (show all 53)
id Gene Variation Type Significance SNP ID Assembly Location
1LAMA2LAMA2, IVS30, A-T, -2SNVPathogenic
2LAMA2NM_ 000426.3(LAMA2): c.3718C> T (p.Gln1240Ter)SNVPathogenicrs121913569GRCh37Chr 6, 129636783: 129636783
3LAMA2LAMA2, 1-BP DEL, 8314AdeletionPathogenic
4LAMA2LAMA2, 2-BP DEL, 2098AGdeletionPathogenic
5LAMA2NM_ 000426.3(LAMA2): c.7732C> T (p.Arg2578Ter)SNVPathogenicrs121913572GRCh37Chr 6, 129802567: 129802567
6LAMA2NM_ 000426.3(LAMA2): c.7147C> T (p.Arg2383Ter)SNVPathogenicrs121913576GRCh37Chr 6, 129785589: 129785589
7LAMA2NM_ 000426.3(LAMA2): c.2901C> A (p.Cys967Ter)SNVPathogenicrs121913577GRCh37Chr 6, 129618874: 129618874
8LAMA1; LAMA2LAMA, 1-BP DEL, 825CdeletionPathogenic
9LAMA2NM_ 000426.3(LAMA2): c.7750-1713_ 7899-2153del4987deletionPathogenicGRCh37Chr 6, 129805906: 129810893
10LAMA2NM_ 000426.3(LAMA2): c.32T> C (p.Leu11Pro)SNVLikely pathogenicrs730880252GRCh38Chr 6, 128883277: 128883277
11LAMA2NM_ 000426.3(LAMA2): c.5563-2A> GSNVLikely pathogenicrs786204779GRCh37Chr 6, 129723467: 129723467
12LAMA2NM_ 000426.3(LAMA2): c.1855_ 1856insATGTTCAC (p.Arg619Hisfs)insertionPathogenicrs797044643GRCh37Chr 6, 129571329: 129571330
13LAMA2NM_ 000426.3(LAMA2): c.2749+1G> CSNVPathogenicrs759555791GRCh37Chr 6, 129609204: 129609204
14LAMA2NM_ 000426.3(LAMA2): c.5260delG (p.Val1754Terfs)deletionPathogenicrs794727594GRCh37Chr 6, 129714215: 129714215
15LAMA2NM_ 000426.3(LAMA2): c.5562+5G> CSNVPathogenicrs771046502GRCh37Chr 6, 129722490: 129722490
16LAMA2NM_ 000426.3(LAMA2): c.524_ 534dupAGTGCCTAACG (p.Leu179Serfs)duplicationPathogenicrs797044728GRCh37Chr 6, 129419445: 129419455
17LAMA2NM_ 000426.3(LAMA2): c.7810C> T (p.Arg2604Ter)SNVPathogenicrs766920075GRCh37Chr 6, 129807679: 129807679
18LAMA2NM_ 000426.3(LAMA2): c.715C> T (p.Arg239Cys)SNVLikely pathogenicrs145465528GRCh37Chr 6, 129465121: 129465121
19LAMA2NM_ 000426.3(LAMA2): c.9253C> T (p.Arg3085Ter)SNV, CompoundHeterozygotePathogenicrs121913571GRCh37Chr 6, 129837376: 129837376
20LAMA2NM_ 000426.3(LAMA2): c.7991delG (p.Gly2664Valfs)deletionPathogenicrs886039541GRCh37Chr 6, 129813138: 129813138
21LAMA2NM_ 000426.3(LAMA2): c.6993_ 7155del163 (p.Ser2331Argfs)deletionLikely pathogenicGRCh37Chr 6, 129785435: 129785597
22LAMA2NM_ 000426.3(LAMA2): c.396+1G> TSNVPathogenicrs770617208GRCh37Chr 6, 129381042: 129381042
23LAMA2NM_ 000426.3(LAMA2): c.444dupG (p.Pro149Alafs)duplicationPathogenicrs886042529GRCh37Chr 6, 129419365: 129419365
24LAMA2NM_ 000426.3(LAMA2): c.3979_ 3985dupGAAGACT (p.Phe1329Terfs)duplicationPathogenicrs886042847GRCh37Chr 6, 129637237: 129637243
25LAMA2NM_ 000426.3(LAMA2): c.4048C> T (p.Arg1350Ter)SNVPathogenicrs756854513GRCh37Chr 6, 129637306: 129637306
26LAMA2NM_ 000426.3(LAMA2): c.1610_ 1611delTA (p.Ile537Thrfs)deletionPathogenicrs886043374GRCh37Chr 6, 129513826: 129513827
27LAMA2NM_ 000426.3(LAMA2): c.7439+1G> ASNVPathogenicrs886043630GRCh37Chr 6, 129794498: 129794498
28LAMA2NM_ 000426.3(LAMA2): c.817A> T (p.Arg273Ter)SNVPathogenicrs886043648GRCh37Chr 6, 129465223: 129465223
29LAMA2NM_ 000426.3(LAMA2): c.7155+1G> ASNVPathogenicrs886043692GRCh37Chr 6, 129785598: 129785598
30LAMA2NM_ 000426.3(LAMA2): c.5116C> T (p.Arg1706Ter)SNVPathogenicrs758775001GRCh37Chr 6, 129712680: 129712680
31LAMA2NM_ 000426.3(LAMA2): c.2352T> G (p.Tyr784Ter)SNVPathogenicrs886044330GRCh37Chr 6, 129591798: 129591798
32LAMA2NM_ 000426.3(LAMA2): c.1032_ 1042delCAATTGTCATG (p.Cys344Trpfs)deletionPathogenicrs886044344GRCh37Chr 6, 129475654: 129475664
33LAMA2NM_ 000426.3(LAMA2): c.5605G> T (p.Glu1869Ter)SNVPathogenicrs746762473GRCh37Chr 6, 129723511: 129723511
34LAMA2NM_ 000426.3(LAMA2): c.1854_ 1861dupACGTGTTC (p.Leu621Hisfs)duplicationPathogenicrs202247791GRCh37Chr 6, 129571328: 129571335
35LAMA2NM_ 000426.3(LAMA2): c.7881T> G (p.His2627Gln)SNVPathogenicrs202247792GRCh37Chr 6, 129807750: 129807750
36LAMA2NM_ 000426.3(LAMA2): c.2553delT (p.Phe852Leufs)deletionLikely pathogenicrs750731624GRCh37Chr 6, 129609007: 129609007
37LAMA2NM_ 000426.3(LAMA2): c.112+1G> ASNVPathogenicrs398123367GRCh37Chr 6, 129204503: 129204503
38LAMA2NM_ 000426.3(LAMA2): c.184G> T (p.Gly62Ter)SNVPathogenicrs398123368GRCh37Chr 6, 129371134: 129371134
39LAMA2NM_ 000426.3(LAMA2): c.2750-1G> CSNVPathogenicrs9492297GRCh37Chr 6, 129612758: 129612758
40LAMA2NM_ 000426.3(LAMA2): c.2962C> T (p.Gln988Ter)SNVPathogenicrs398123371GRCh37Chr 6, 129618935: 129618935
41LAMA2NM_ 000426.3(LAMA2): c.3630delT (p.Ile1210Metfs)deletionPathogenicrs398123372GRCh37Chr 6, 129636695: 129636695
42LAMA2NM_ 000426.3(LAMA2): c.3976C> T (p.Arg1326Ter)SNVPathogenicrs398123373GRCh37Chr 6, 129637234: 129637234
43LAMA2NM_ 000426.3(LAMA2): c.4523+1G> ASNVPathogenicrs398123375GRCh37Chr 6, 129670530: 129670530
44LAMA2NM_ 000426.3(LAMA2): c.5050G> T (p.Glu1684Ter)SNVPathogenicrs201632009GRCh37Chr 6, 129704357: 129704357
45LAMA2NM_ 000426.3(LAMA2): c.5706_ 5712delCTCATCT (p.Asp1902Glufs)deletionPathogenicrs398123377GRCh37Chr 6, 129723612: 129723618
46LAMA2NM_ 000426.3(LAMA2): c.5914C> T (p.Gln1972Ter)SNVPathogenicrs398123378GRCh37Chr 6, 129748945: 129748945
47LAMA2NM_ 000426.3(LAMA2): c.6011delA (p.Asn2004Metfs)deletionPathogenicrs398123379GRCh37Chr 6, 129759833: 129759833
48LAMA2NM_ 000426.3(LAMA2): c.6038delT (p.Leu2013Terfs)deletionPathogenicrs398123380GRCh37Chr 6, 129759860: 129759860
49LAMA2NM_ 000426.3(LAMA2): c.6955C> T (p.Arg2319Ter)SNVPathogenicrs398123383GRCh37Chr 6, 129781432: 129781432
50LAMA2NM_ 000426.3(LAMA2): c.7279_ 7280delCT (p.Leu2427Valfs)deletionPathogenicrs398123385GRCh37Chr 6, 129786413: 129786414
51LAMA2NM_ 000426.3(LAMA2): c.7536delC (p.Asp2513Ilefs)deletionPathogenicrs398123387GRCh37Chr 6, 129799922: 129799922
52LAMA2NM_ 000426.3(LAMA2): c.9101_ 9104dupAACA (p.His3035Glnfs)duplicationPathogenicrs398123390GRCh37Chr 6, 129835630: 129835633
53LAMA2NM_ 000426.3(LAMA2): c.9212-1G> ASNVPathogenicrs398123391GRCh37Chr 6, 129837334: 129837334

Expression for genes affiliated with Muscular Dystrophy, Congenital Merosin-Deficient

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Search GEO for disease gene expression data for Muscular Dystrophy, Congenital Merosin-Deficient.

Pathways for genes affiliated with Muscular Dystrophy, Congenital Merosin-Deficient

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Pathways related to Muscular Dystrophy, Congenital Merosin-Deficient according to GeneCards Suite gene sharing:

(show all 11)
idSuper pathwaysScoreTop Affiliating Genes
19.5AGRN, DAG1
2
Show member pathways
9.1AGRN, DAG1, LAMA2
39.1AGRN, DAG1, LAMA2
49.1AGRN, DAG1, LAMA2
5
Show member pathways
8.9DAG1, DMD, LMNA
6
Show member pathways
8.6AGRN, DAG1, DMD, LAMA2
78.6AGRN, DAG1, DMD, LAMA2
8
Show member pathways
8.6AGRN, DAG1, DMD, LAMA2
9
Show member pathways
8.3DAG1, DMD, LAMA2, SGCA
10
Show member pathways
7.7DAG1, DMD, LAMA2, LMNA, SGCA
11
Show member pathways
7.7DAG1, DMD, LAMA2, LMNA, SGCA

GO Terms for genes affiliated with Muscular Dystrophy, Congenital Merosin-Deficient

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Cellular components related to Muscular Dystrophy, Congenital Merosin-Deficient according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1basement membraneGO:000560410.4DAG1, LAMA2
2basal laminaGO:000560510.3AGRN, LAMA2
3costamereGO:004303410.2DAG1, DMD
4filopodiumGO:003017510.2DAG1, DMD
5dystroglycan complexGO:00160119.9DAG1, SGCA
6extracellular matrixGO:00310129.6AGRN, LAMA2, LMNA
7dystrophin-associated glycoprotein complexGO:00160109.4DAG1, DMD, SGCA
8membrane raftGO:00451219.3DAG1, DMD, SGCA
9synapseGO:00452029.0AGRN, DAG1, DMD
10sarcolemmaGO:00423838.9DAG1, DMD, LAMA2, SGCA

Biological processes related to Muscular Dystrophy, Congenital Merosin-Deficient according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1Schwann cell differentiationGO:001403710.0DAG1, LAMA2
2regulation of cell migrationGO:00303349.9LAMA2, LMNA
3extracellular matrix organizationGO:00301989.7AGRN, DAG1, LAMA2
4response to denervation involved in regulation of muscle adaptationGO:00148949.1DAG1, DMD, SGCA
5muscle organ developmentGO:00075178.9DMD, FKTN, LAMA2, SGCA
6skeletal muscle tissue regenerationGO:00434038.7DAG1, DMD, SGCA

Molecular functions related to Muscular Dystrophy, Congenital Merosin-Deficient according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1laminin bindingGO:004323610.0AGRN, DAG1
2structural constituent of muscleGO:00083079.8DAG1, DMD
3vinculin bindingGO:00171669.5DAG1, DMD
4dystroglycan bindingGO:00021629.5AGRN, DAG1, DMD

Sources for Muscular Dystrophy, Congenital Merosin-Deficient

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet