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

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

Name: Muscular Dystrophy, Congenital Merosin-Deficient 54 13
Mdc1a 12 56 66 52
Muscular Dystrophy, Congenital, Due to Partial Lama2 Deficiency 54 29
Congenital Muscular Dystrophy Due to Laminin Alpha2 Deficiency 12 56
Congenital Merosin-Deficient Muscular Dystrophy 1a 12 14
Merosin-Negative Congenital Muscular Dystrophy 12 56
Cmd1a 12 56
Muscular Dystrophy, Congenital Merosin-Deficient, 1a 54
Merosin-Deficient Congenital Muscular Dystrophy 1a 66
Muscular Dystrophy Congenital, Merosin Negative 69
Congenital Muscular Dystrophy Type 1a 56
Cardiomyopathy, Familial Idiopathic 69

Characteristics:

Orphanet epidemiological data:

56
congenital muscular dystrophy type 1a
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Neonatal; Age of death: adolescent,late childhood;

HPO:

32
muscular dystrophy, congenital merosin-deficient:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 607855
Disease Ontology 12 DOID:0110636
ICD10 33 G71.2
Orphanet 56 ORPHA258
UMLS via Orphanet 70 C1263858
ICD10 via Orphanet 34 G71.2
UMLS 69 C1263858

Summaries for Muscular Dystrophy, Congenital Merosin-Deficient

OMIM : 54 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 seizures, intellectual disability and muscular hypotonia. An important gene associated with Muscular Dystrophy, Congenital Merosin-Deficient is LAMA2 (Laminin Subunit Alpha 2), and among its related pathways/superpathways are Allograft rejection and Degradation of the extracellular matrix. Affiliated tissues include brain and tongue, and related phenotypes are behavior/neurological and growth/size/body region

Disease Ontology : 12 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 : 66 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

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

(show all 38)
id Related Disease Score Top Affiliating Genes
1 congenital muscular dystrophy type 1a 11.3
2 cardiomyopathy, dilated, 1a 10.9
3 cardiomyopathy, dilated, 1l 10.9
4 lmna-related dilated cardiomyopathy 10.8
5 gabrg2-related generalized epilepsy with febrile seizures plus 10.1 FKTN LAMA2
6 cubitus valgus with mental retardation and unusual facies 10.1 DMD LAMA2
7 muscular dystrophy, rigid spine, 1 10.1 DMD LAMA2
8 dystonia 27 10.0 LAMA2 LMNA
9 cardiomyopathy, familial restrictive, 3 10.0 DAG1 DMD LAMA2
10 eif2b1-related childhood ataxia with central nervous system hypomyelination/vanishing white matter 9.9 DMD SGCA
11 cone-rod dystrophy, prph2-related 9.9 DAG1 DMD FKTN
12 prosthetic joint infection 9.9 DMD SGCA
13 pervasive developmental disorder 9.9 DMD LMNA
14 myopathy, distal, with anterior tibial onset 9.9 DMD SGCA
15 ullrich congenital muscular dystrophy 1 9.9 DMD LAMA2 LMNA
16 parametrium malignant neoplasm 9.9 DMD LAMA2 LMNA
17 microcephaly and chorioretinopathy 2 9.9 DMD LMNA
18 autosomal recessive limb-girdle muscular dystrophy type 2h 9.9 DMD SGCA
19 autosomal recessive nonsyndromic deafness 47 9.8 DAG1 DMD FKTN LAMA2
20 cardiomyopathy, dilated, 1aa, with or without lvnc 9.8 DAG1 DMD FKTN LAMA2
21 cardiomyopathy, dilated, 1x 9.8 DAG1 DMD FKTN LAMA2
22 thrombocytopenia, x-linked 9.8 DMD LAMA2 SGCA
23 pancreatic agenesis 1 9.8 DAG1 DMD SGCA
24 sdhc-related paraganglioma and gastric stromal sarcoma 9.8 DAG1 DMD SGCA
25 immunodeficiency 34, mycobacteriosis, x-linked 9.7 DAG1 DMD SGCA
26 lipodystrophy, familial partial, 2 9.7 DAG1 DMD LAMA2 LMNA
27 familial partial lipodystrophy 9.7 DMD LMNA SGCA
28 malignant hyperthermia susceptibility 9.7 LMNA SGCA
29 dermatofibrosarcoma protuberans 9.6 AGRN DAG1 DMD FKTN LAMA2
30 muscular dystrophy, limb-girdle, type 1b 9.6 DAG1 DMD FKTN LAMA2 LMNA
31 myasthenia gravis, limb-girdle 9.5 DAG1 DMD FKTN LAMA2 SGCA
32 cerebral angioma 9.5 DAG1 DMD FKTN LAMA2 SGCA
33 glycogen storage disease 0, muscle 9.4 AGRN DAG1 DMD FKTN LAMA2 LMNA
34 autosomal dominant nonsyndromic deafness 9.3 AGRN DAG1 DMD FKTN LAMA2 SGCA
35 central corneal ulcer 9.3 DAG1 DMD FKTN LAMA2 LMNA SGCA
36 cdkl5-related angelman-like syndrome 9.2 DAG1 DMD FKTN LAMA2 LMNA SGCA
37 emery-dreifuss muscular dystrophy, dominant type 9.2 DAG1 DMD FKTN LAMA2 LMNA SGCA
38 sudden infant death with dysgenesis of the testes syndrome 9.1 AGRN 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

Symptoms by clinical synopsis from OMIM:

607855

Clinical features from OMIM:

607855

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

56 32 (show top 50) (show all 59)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 56 32 Frequent (79-30%) HP:0001250
2 intellectual disability 56 32 Frequent (79-30%) HP:0001249
3 muscular hypotonia 56 32 Very frequent (99-80%) HP:0001252
4 flexion contracture 56 32 Frequent (79-30%) HP:0001371
5 motor delay 56 32 Very frequent (99-80%) HP:0001270
6 muscular dystrophy 56 32 Very frequent (99-80%) HP:0003560
7 congenital muscular dystrophy 56 32 Very frequent (99-80%) HP:0003741
8 muscle weakness 56 Very frequent (99-80%)
9 ophthalmoplegia 32 HP:0000602
10 dysphagia 56 Occasional (29-5%)
11 respiratory insufficiency 56 Frequent (79-30%)
12 scoliosis 56 Occasional (29-5%)
13 hyperlordosis 56 Occasional (29-5%)
14 facial palsy 56 Frequent (79-30%)
15 macroglossia 56 Frequent (79-30%)
16 neonatal hypotonia 56 Occasional (29-5%)
17 abnormality of visual evoked potentials 56 Occasional (29-5%)
18 gastroesophageal reflux 56 Very frequent (99-80%)
19 feeding difficulties in infancy 32 HP:0008872
20 cognitive impairment 56 Occasional (29-5%)
21 abnormality of metabolism/homeostasis 56 Very frequent (99-80%)
22 respiratory insufficiency due to muscle weakness 32 HP:0002747
23 elevated serum creatine phosphokinase 32 HP:0003236
24 arrhythmia 56 Occasional (29-5%)
25 pulmonary hypertension 56 Very rare (<4-1%)
26 cardiomyopathy 56 Occasional (29-5%)
27 inability to walk 56 Very frequent (99-80%)
28 absence seizures 56 Occasional (29-5%)
29 respiratory failure 56 Very frequent (99-80%)
30 open mouth 56 Occasional (29-5%)
31 protruding tongue 56 Occasional (29-5%)
32 atelectasis 56 Occasional (29-5%)
33 areflexia 32 HP:0001284
34 focal seizures 56 Occasional (29-5%)
35 decreased body weight 56 Occasional (29-5%)
36 pachygyria 56 Occasional (29-5%)
37 weak cry 56 Very frequent (99-80%)
38 hypokinesia 56 Very frequent (99-80%)
39 increased connective tissue 56 Very frequent (99-80%)
40 highly elevated creatine phosphokinase 56 Very frequent (99-80%)
41 muscle fiber atrophy 56 Very frequent (99-80%)
42 myositis 56 Very frequent (99-80%)
43 cerebral edema 56 Frequent (79-30%)
44 astrocytosis 56 Frequent (79-30%)
45 recurrent lower respiratory tract infections 56 Frequent (79-30%)
46 aspiration 56 Frequent (79-30%)
47 chewing difficulties 56 Frequent (79-30%)
48 abnormality of the temporomandibular joint 56 Frequent (79-30%)
49 abnormal brainstem mri signal intensity 56 Frequent (79-30%)
50 lissencephaly 56 Occasional (29-5%)

MGI Mouse Phenotypes related to Muscular Dystrophy, Congenital Merosin-Deficient:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.85 AGRN DAG1 DMD FKTN LAMA2 LMNA
2 growth/size/body region MP:0005378 9.73 DMD FKTN LAMA2 LMNA AGRN DAG1
3 cardiovascular system MP:0005385 9.72 AGRN DAG1 DMD LMNA SGCA
4 homeostasis/metabolism MP:0005376 9.7 AGRN DAG1 DMD FKTN LAMA2 LMNA
5 muscle MP:0005369 9.5 AGRN DAG1 DMD FKTN LAMA2 LMNA
6 nervous system MP:0003631 9.1 AGRN DAG1 DMD FKTN LAMA2 LMNA

Drugs & Therapeutics for Muscular Dystrophy, Congenital Merosin-Deficient

Interventional clinical trials:


id Name Status NCT ID Phase
1 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402
2 LAMA2-related Muscular Dystrophy Brain Study Withdrawn NCT01952028

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

Genetic Tests for Muscular Dystrophy, Congenital Merosin-Deficient

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

id Genetic test Affiliating Genes
1 Congenital Muscular Dystrophy Due to Partial Lama2 Deficiency 29

Anatomical Context for Muscular Dystrophy, Congenital Merosin-Deficient

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

39
Brain, Tongue

Publications for Muscular Dystrophy, Congenital Merosin-Deficient

Variations for Muscular Dystrophy, Congenital Merosin-Deficient

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

66
id Symbol AA change Variation ID SNP ID
1 LAMA2 p.Cys527Tyr VAR_015743 rs121913574
2 LAMA2 p.Cys862Arg VAR_015744 rs121913573
3 LAMA2 p.Leu2564Pro VAR_015745 rs121913570
4 LAMA2 p.Gly2889Arg VAR_076560

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

6 (show top 50) (show all 55)
id Gene Variation Type Significance SNP ID Assembly Location
1 LAMA2 LAMA2, IVS30, A-T, -2 single nucleotide variant Pathogenic
2 LAMA2 NM_000426.3(LAMA2): c.3718C> T (p.Gln1240Ter) single nucleotide variant Pathogenic rs121913569 GRCh37 Chromosome 6, 129636783: 129636783
3 LAMA2 NM_000426.3(LAMA2): c.9253C> T (p.Arg3085Ter) single nucleotide variant Pathogenic rs121913571 GRCh37 Chromosome 6, 129837376: 129837376
4 LAMA2 LAMA2, 1-BP DEL, 8314A deletion Pathogenic
5 LAMA2 LAMA2, IVS25, T-C, +2 single nucleotide variant Pathogenic
6 LAMA2 LAMA2, 2-BP DEL, 2098AG deletion Pathogenic
7 LAMA2 NM_000426.3(LAMA2): c.7732C> T (p.Arg2578Ter) single nucleotide variant Pathogenic rs121913572 GRCh37 Chromosome 6, 129802567: 129802567
8 LAMA2 NM_000426.3(LAMA2): c.4645C> T (p.Arg1549Ter) single nucleotide variant Pathogenic rs121913575 GRCh37 Chromosome 6, 129674430: 129674430
9 LAMA2 NM_000426.3(LAMA2): c.7147C> T (p.Arg2383Ter) single nucleotide variant Pathogenic rs121913576 GRCh37 Chromosome 6, 129785589: 129785589
10 LAMA2 NM_000426.3(LAMA2): c.2901C> A (p.Cys967Ter) single nucleotide variant Pathogenic rs121913577 GRCh37 Chromosome 6, 129618874: 129618874
11 LAMA1; LAMA2 LAMA, 1-BP DEL, 825C deletion Pathogenic
12 LAMA2 NM_000426.3(LAMA2): c.7750-1713_7899-2153del4987 deletion Pathogenic GRCh37 Chromosome 6, 129805906: 129810893
13 LAMA2 NM_000426.3(LAMA2): c.1854_1861dupACGTGTTC (p.Leu621Hisfs) duplication Pathogenic rs202247791 GRCh37 Chromosome 6, 129571328: 129571335
14 LAMA2 NM_000426.3(LAMA2): c.7881T> G (p.His2627Gln) single nucleotide variant Pathogenic rs202247792 GRCh37 Chromosome 6, 129807750: 129807750
15 LAMA2 NM_000426.3(LAMA2): c.112+1G> A single nucleotide variant Pathogenic rs398123367 GRCh37 Chromosome 6, 129204503: 129204503
16 LAMA2 NM_000426.3(LAMA2): c.184G> T (p.Gly62Ter) single nucleotide variant Pathogenic rs398123368 GRCh37 Chromosome 6, 129371134: 129371134
17 LAMA2 NM_000426.3(LAMA2): c.2750-1G> C single nucleotide variant Pathogenic rs9492297 GRCh37 Chromosome 6, 129612758: 129612758
18 LAMA2 NM_000426.3(LAMA2): c.2962C> T (p.Gln988Ter) single nucleotide variant Pathogenic rs398123371 GRCh37 Chromosome 6, 129618935: 129618935
19 LAMA2 NM_000426.3(LAMA2): c.3630delT (p.Ile1210Metfs) deletion Pathogenic rs398123372 GRCh37 Chromosome 6, 129636695: 129636695
20 LAMA2 NM_000426.3(LAMA2): c.3976C> T (p.Arg1326Ter) single nucleotide variant Pathogenic rs398123373 GRCh37 Chromosome 6, 129637234: 129637234
21 LAMA2 NM_000426.3(LAMA2): c.4523+1G> A single nucleotide variant Pathogenic rs398123375 GRCh37 Chromosome 6, 129670530: 129670530
22 LAMA2 NM_000426.3(LAMA2): c.5050G> T (p.Glu1684Ter) single nucleotide variant Pathogenic rs201632009 GRCh37 Chromosome 6, 129704357: 129704357
23 LAMA2 NM_000426.3(LAMA2): c.5706_5712delCTCATCT (p.Asp1902Glufs) deletion Pathogenic rs398123377 GRCh37 Chromosome 6, 129723612: 129723618
24 LAMA2 NM_000426.3(LAMA2): c.5914C> T (p.Gln1972Ter) single nucleotide variant Pathogenic rs398123378 GRCh37 Chromosome 6, 129748945: 129748945
25 LAMA2 NM_000426.3(LAMA2): c.6011delA (p.Asn2004Metfs) deletion Pathogenic rs398123379 GRCh37 Chromosome 6, 129759833: 129759833
26 LAMA2 NM_000426.3(LAMA2): c.6038delT (p.Leu2013Terfs) deletion Pathogenic rs398123380 GRCh37 Chromosome 6, 129759860: 129759860
27 LAMA2 NM_000426.3(LAMA2): c.6955C> T (p.Arg2319Ter) single nucleotide variant Pathogenic rs398123383 GRCh37 Chromosome 6, 129781432: 129781432
28 LAMA2 NM_000426.3(LAMA2): c.7279_7280delCT (p.Leu2427Valfs) deletion Pathogenic rs398123385 GRCh37 Chromosome 6, 129786413: 129786414
29 LAMA2 NM_000426.3(LAMA2): c.7536delC (p.Asp2513Ilefs) deletion Pathogenic rs398123387 GRCh37 Chromosome 6, 129799922: 129799922
30 LAMA2 NM_000426.3(LAMA2): c.9101_9104dupAACA (p.His3035Glnfs) duplication Pathogenic rs398123390 GRCh37 Chromosome 6, 129835630: 129835633
31 LAMA2 NM_000426.3(LAMA2): c.9212-1G> A single nucleotide variant Pathogenic rs398123391 GRCh37 Chromosome 6, 129837334: 129837334
32 LAMA2 NM_000426.3(LAMA2): c.32T> C (p.Leu11Pro) single nucleotide variant Likely pathogenic rs730880252 GRCh38 Chromosome 6, 128883277: 128883277
33 LAMA2 NM_000426.3(LAMA2): c.5563-2A> G single nucleotide variant Likely pathogenic rs786204779 GRCh37 Chromosome 6, 129723467: 129723467
34 LAMA2 NM_000426.3(LAMA2): c.1855_1856insATGTTCAC (p.Arg619Hisfs) insertion Pathogenic rs797044643 GRCh37 Chromosome 6, 129571329: 129571330
35 LAMA2 NM_000426.3(LAMA2): c.2749+1G> C single nucleotide variant Pathogenic rs759555791 GRCh37 Chromosome 6, 129609204: 129609204
36 LAMA2 NM_000426.3(LAMA2): c.5260delG (p.Val1754Terfs) deletion Pathogenic rs794727594 GRCh37 Chromosome 6, 129714215: 129714215
37 LAMA2 NM_000426.3(LAMA2): c.5562+5G> C single nucleotide variant Pathogenic rs771046502 GRCh37 Chromosome 6, 129722490: 129722490
38 LAMA2 NM_000426.3(LAMA2): c.524_534dupAGTGCCTAACG (p.Leu179Serfs) duplication Pathogenic rs797044728 GRCh37 Chromosome 6, 129419445: 129419455
39 LAMA2 NM_000426.3(LAMA2): c.7810C> T (p.Arg2604Ter) single nucleotide variant Pathogenic rs766920075 GRCh37 Chromosome 6, 129807679: 129807679
40 LAMA2 NM_000426.3(LAMA2): c.715C> T (p.Arg239Cys) single nucleotide variant Likely pathogenic rs145465528 GRCh37 Chromosome 6, 129465121: 129465121
41 LAMA2 NM_000426.3(LAMA2): c.7991delG (p.Gly2664Valfs) deletion Pathogenic rs886039541 GRCh37 Chromosome 6, 129813138: 129813138
42 LAMA2 NM_000426.3(LAMA2): c.6993_7155del163 (p.Ser2331Argfs) deletion Likely pathogenic GRCh37 Chromosome 6, 129785435: 129785597
43 LAMA2 NM_000426.3(LAMA2): c.396+1G> T single nucleotide variant Pathogenic rs770617208 GRCh37 Chromosome 6, 129381042: 129381042
44 LAMA2 NM_000426.3(LAMA2): c.444dupG (p.Pro149Alafs) duplication Pathogenic rs886042529 GRCh37 Chromosome 6, 129419365: 129419365
45 LAMA2 NM_000426.3(LAMA2): c.3979_3985dupGAAGACT (p.Phe1329Terfs) duplication Pathogenic rs886042847 GRCh37 Chromosome 6, 129637237: 129637243
46 LAMA2 NM_000426.3(LAMA2): c.4048C> T (p.Arg1350Ter) single nucleotide variant Pathogenic rs756854513 GRCh37 Chromosome 6, 129637306: 129637306
47 LAMA2 NM_000426.3(LAMA2): c.1610_1611delTA (p.Ile537Thrfs) deletion Pathogenic rs886043374 GRCh37 Chromosome 6, 129513826: 129513827
48 LAMA2 NM_000426.3(LAMA2): c.7439+1G> A single nucleotide variant Pathogenic rs886043630 GRCh37 Chromosome 6, 129794498: 129794498
49 LAMA2 NM_000426.3(LAMA2): c.817A> T (p.Arg273Ter) single nucleotide variant Pathogenic rs886043648 GRCh37 Chromosome 6, 129465223: 129465223
50 LAMA2 NM_000426.3(LAMA2): c.7155+1G> A single nucleotide variant Pathogenic rs886043692 GRCh37 Chromosome 6, 129785598: 129785598

Expression for Muscular Dystrophy, Congenital Merosin-Deficient

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

Pathways for Muscular Dystrophy, Congenital Merosin-Deficient

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

(show all 11)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.47 DAG1 DMD LAMA2 SGCA
2
Show member pathways
12.36 AGRN DAG1 DMD LAMA2
3
Show member pathways
12.11 DAG1 DMD LMNA
4
Show member pathways
12.06 DAG1 DMD LAMA2 LMNA SGCA
5
Show member pathways
11.81 AGRN DAG1 LAMA2
6
Show member pathways
11.59 DAG1 DMD LAMA2 LMNA SGCA
7 11.36 AGRN DAG1
8 11.3 AGRN DAG1 LAMA2
9
Show member pathways
11.28 AGRN DAG1 DMD LAMA2
10 11.25 AGRN DAG1 LAMA2
11 10.2 AGRN DAG1 DMD LAMA2

GO Terms for Muscular Dystrophy, Congenital Merosin-Deficient

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

id Name GO ID Score Top Affiliating Genes
1 synapse GO:0045202 9.63 AGRN DAG1 DMD
2 extracellular matrix GO:0031012 9.58 AGRN LAMA2 LMNA
3 membrane raft GO:0045121 9.54 DAG1 DMD SGCA
4 basement membrane GO:0005604 9.48 DAG1 LAMA2
5 filopodium GO:0030175 9.43 DAG1 DMD
6 costamere GO:0043034 9.32 DAG1 DMD
7 basal lamina GO:0005605 9.26 AGRN LAMA2
8 dystroglycan complex GO:0016011 9.16 DAG1 SGCA
9 dystrophin-associated glycoprotein complex GO:0016010 9.13 DAG1 DMD SGCA
10 sarcolemma GO:0042383 8.92 DAG1 DMD LAMA2 SGCA

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

id Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.5 AGRN DAG1 LAMA2
2 regulation of cell migration GO:0030334 9.37 LAMA2 LMNA
3 skeletal muscle tissue regeneration GO:0043403 9.33 DAG1 DMD SGCA
4 Schwann cell differentiation GO:0014037 9.26 DAG1 LAMA2
5 muscle organ development GO:0007517 9.26 DMD FKTN LAMA2 SGCA
6 response to denervation involved in regulation of muscle adaptation GO:0014894 8.8 DAG1 DMD SGCA

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

id Name GO ID Score Top Affiliating Genes
1 structural constituent of muscle GO:0008307 9.26 DAG1 DMD
2 laminin binding GO:0043236 9.16 AGRN DAG1
3 vinculin binding GO:0017166 8.96 DAG1 DMD
4 dystroglycan binding GO:0002162 8.8 AGRN DAG1 DMD

Sources for Muscular Dystrophy, Congenital Merosin-Deficient

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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31 HMDB
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34 ICD10 via Orphanet
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36 IUPHAR
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43 MESH via Orphanet
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54 OMIM
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59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
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70 UMLS via Orphanet
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