MCID: MSC162
MIFTS: 50

Muscular Dystrophy, Congenital Merosin-Deficient, 1a

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

Aliases & Classifications for Muscular Dystrophy, Congenital Merosin-Deficient, 1a

MalaCards integrated aliases for Muscular Dystrophy, Congenital Merosin-Deficient, 1a:

Name: Muscular Dystrophy, Congenital Merosin-Deficient, 1a 57
Mdc1a 57 12 59 75 55
Congenital Muscular Dystrophy Due to Laminin Alpha2 Deficiency 12 59
Congenital Muscular Dystrophy Due to Partial Lama2 Deficiency 29 6
Congenital Merosin-Deficient Muscular Dystrophy 1a 12 15
Muscular Dystrophy, Congenital Merosin-Deficient 57 13
Merosin-Negative Congenital Muscular Dystrophy 12 59
Cmd1a 12 59
Muscular Dystrophy, Congenital, Due to Partial Lama2 Deficiency 57
Merosin-Deficient Congenital Muscular Dystrophy 1a 75
Muscular Dystrophy Congenital, Merosin Negative 73
Congenital Muscular Dystrophy Type 1a 59
Cardiomyopathy, Familial Idiopathic 73

Characteristics:

Orphanet epidemiological data:

59
congenital muscular dystrophy type 1a
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Neonatal; Age of death: adolescent,late childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth or early infancy
ambulation usually not achieved
partial laminin alpha-2 deficiency results in milder phenotype


HPO:

32
muscular dystrophy, congenital merosin-deficient, 1a:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Muscular Dystrophy, Congenital Merosin-Deficient, 1a

OMIM : 57 Merosin-deficient congenital muscular dystrophy is an autosomal recessive form of muscular dystrophy characterized by muscle weakness apparent at birth or in the first 6 months of life. Patients show hypotonia, poor suck and cry, and delayed motor development; most never achieve independent ambulation. Most patients also have periventricular white matter abnormalities on brain imaging, but mental retardation and/or seizures occur only rarely (summary by Xiong et al., 2015). (607855)

MalaCards based summary : Muscular Dystrophy, Congenital Merosin-Deficient, 1a, also known as mdc1a, is related to cardiomyopathy, dilated, 1a and muscular dystrophy, congenital, lmna-related. An important gene associated with Muscular Dystrophy, Congenital Merosin-Deficient, 1a 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, tongue and skin, and related phenotypes are muscular hypotonia and motor delay

UniProtKB/Swiss-Prot : 75 Merosin-deficient congenital muscular dystrophy 1A: Characterized by difficulty walking, hypotonia, proximal weakness, hyporeflexia, and white matter hypodensity on MRI.

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.

Related Diseases for Muscular Dystrophy, Congenital Merosin-Deficient, 1a

Diseases related to Muscular Dystrophy, Congenital Merosin-Deficient, 1a via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 38)
# Related Disease Score Top Affiliating Genes
1 cardiomyopathy, dilated, 1a 30.6 DAG1 DMD LAMA2 LMNA
2 muscular dystrophy, congenital, lmna-related 29.4 DAG1 FKTN LAMA2 LMNA
3 muscular dystrophy 25.2 AGRN B3GALNT2 DAG1 DMD FKTN LAMA2
4 congenital muscular dystrophy type 1a 11.7
5 lama2-related muscular dystrophy 11.1
6 cardiomyopathy, dilated, 1l 11.0
7 isolated hyperckemia 10.3 DMD LAMA2
8 creatine phosphokinase, elevated serum 10.3 DMD LAMA2
9 myopathy, x-linked, with excessive autophagy 10.2 DMD LAMA2
10 familial isolated dilated cardiomyopathy 10.1 DMD FKTN
11 rigid spine muscular dystrophy 1 10.1 DMD LAMA2
12 ullrich congenital muscular dystrophy 1 10.0 LAMA2 LMNA
13 cardiomyopathy, dilated, 3b 10.0 DMD SGCA
14 mcleod syndrome 9.9 DMD SGCA
15 intrinsic cardiomyopathy 9.9 DMD LMNA
16 malignant hyperthermia 9.9 DMD LAMA2
17 muscular dystrophy, limb-girdle, type 2f 9.9 DMD SGCA
18 muscular dystrophy, limb-girdle, type 2b 9.9 DMD SGCA
19 autosomal recessive limb-girdle muscular dystrophy 9.8 DMD SGCA
20 neuromuscular disease 9.8 DMD LAMA2
21 congenital fiber-type disproportion 9.8 DMD LMNA
22 cardiomyopathy, dilated, 1d 9.8 DAG1 DMD LAMA2
23 muscular dystrophy, limb-girdle, type 2c 9.5 DAG1 DMD SGCA
24 myocarditis 9.4 DAG1 DMD
25 cardiomyopathy, dilated, 1b 9.4 DAG1 DMD FKTN LAMA2
26 muscular dystrophy, congenital, 1b 9.4 DAG1 DMD FKTN LAMA2
27 muscular dystrophy-dystroglycanopathy , type a, 4 9.4 DAG1 DMD FKTN LAMA2
28 arrhythmogenic right ventricular cardiomyopathy 9.3 DMD LMNA SGCA
29 muscular dystrophy, becker type 9.2 DMD FKTN LAMA2 SGCA
30 bethlem myopathy 1 9.1 B3GALNT2 DMD LMNA
31 limb-girdle muscular dystrophy 8.9 DMD FKTN LMNA SGCA
32 muscular dystrophy-dystroglycanopathy , type b, 6 8.9 AGRN DAG1 DMD FKTN LAMA2
33 muscle eye brain disease 8.4 B3GALNT2 DAG1 DMD FKTN LAMA2
34 myopathy 8.4 DAG1 DMD LAMA2 LMNA SGCA
35 muscular dystrophy-dystroglycanopathy , type b, 5 8.3 AGRN DAG1 DMD FKTN LAMA2 LMNA
36 muscle tissue disease 8.0 DAG1 DMD FKTN LAMA2 LMNA SGCA
37 dilated cardiomyopathy 8.0 DAG1 DMD FKTN LAMA2 LMNA SGCA
38 walker-warburg syndrome 7.2 AGRN B3GALNT2 DAG1 DMD FKTN LAMA2

Graphical network of the top 20 diseases related to Muscular Dystrophy, Congenital Merosin-Deficient, 1a:



Diseases related to Muscular Dystrophy, Congenital Merosin-Deficient, 1a

Symptoms & Phenotypes for Muscular Dystrophy, Congenital Merosin-Deficient, 1a

Symptoms via clinical synopsis from OMIM:

57
Abdomen Gastrointestinal:
feeding difficulties

Muscle Soft Tissue:
hypotonia
delayed motor development
emg shows myopathic changes
muscle biopsy shows dystrophic changes
muscle weakness, severe, axial and proximal predominance
more
Skeletal Limbs:
joint contractures

Laboratory Abnormalities:
increased creatine kinase

Neurologic Central Nervous System:
abnormal cortical gyration
seizures (rare)
mental retardation (rare)
white matter hypodensities seen on mri

Head And Neck Eyes:
ophthalmoplegia (in some patients)

Skeletal Spine:
kyphoscoliosis (in some patients)

Respiratory:
respiratory muscle weakness


Clinical features from OMIM:

607855

Human phenotypes related to Muscular Dystrophy, Congenital Merosin-Deficient, 1a:

59 32 (show top 50) (show all 60)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 59 32 Very frequent (99-80%) HP:0001252
2 motor delay 59 32 Very frequent (99-80%) HP:0001270
3 muscular dystrophy 59 32 Very frequent (99-80%) HP:0003560
4 congenital muscular dystrophy 59 32 Very frequent (99-80%) HP:0003741
5 intellectual disability 59 32 occasional (7.5%) Frequent (79-30%) HP:0001249
6 seizures 59 32 Frequent (79-30%) HP:0001250
7 flexion contracture 59 32 Frequent (79-30%) HP:0001371
8 muscle weakness 59 Very frequent (99-80%)
9 weak cry 59 Very frequent (99-80%)
10 abnormality of metabolism/homeostasis 59 Very frequent (99-80%)
11 gastroesophageal reflux 59 Very frequent (99-80%)
12 hypokinesia 59 Very frequent (99-80%)
13 inability to walk 59 Very frequent (99-80%)
14 respiratory failure 59 Very frequent (99-80%)
15 increased connective tissue 59 Very frequent (99-80%)
16 highly elevated creatine phosphokinase 59 Very frequent (99-80%)
17 muscle fiber atrophy 59 Very frequent (99-80%)
18 myositis 59 Very frequent (99-80%)
19 macroglossia 59 Frequent (79-30%)
20 respiratory insufficiency 59 Frequent (79-30%)
21 cerebral edema 59 Frequent (79-30%)
22 astrocytosis 59 Frequent (79-30%)
23 recurrent lower respiratory tract infections 59 Frequent (79-30%)
24 aspiration 59 Frequent (79-30%)
25 chewing difficulties 59 Frequent (79-30%)
26 facial palsy 59 Frequent (79-30%)
27 abnormality of the temporomandibular joint 59 Frequent (79-30%)
28 abnormal brainstem mri signal intensity 59 Frequent (79-30%)
29 open mouth 59 Occasional (29-5%)
30 abnormality of visual evoked potentials 59 Occasional (29-5%)
31 pachygyria 59 Occasional (29-5%)
32 neonatal hypotonia 59 Occasional (29-5%)
33 lissencephaly 59 Occasional (29-5%)
34 cardiomyopathy 59 Occasional (29-5%)
35 dysphagia 59 Occasional (29-5%)
36 myopathic facies 59 Occasional (29-5%)
37 absence seizures 59 Occasional (29-5%)
38 scoliosis 59 Occasional (29-5%)
39 hypoventilation 59 Occasional (29-5%)
40 hyperlordosis 59 Occasional (29-5%)
41 decreased body weight 59 Occasional (29-5%)
42 intercostal muscle weakness 59 Occasional (29-5%)
43 pontocerebellar atrophy 59 Occasional (29-5%)
44 sensorimotor neuropathy 59 Occasional (29-5%)
45 focal seizures 59 Occasional (29-5%)
46 protruding tongue 59 Occasional (29-5%)
47 arrhythmia 59 Occasional (29-5%)
48 reduced ejection fraction 59 Occasional (29-5%)
49 cognitive impairment 59 Occasional (29-5%)
50 atelectasis 59 Occasional (29-5%)

MGI Mouse Phenotypes related to Muscular Dystrophy, Congenital Merosin-Deficient, 1a:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.73 AGRN DAG1 DMD FKTN LAMA2 LMNA
2 homeostasis/metabolism MP:0005376 9.7 AGRN DAG1 DMD FKTN LAMA2 LMNA
3 muscle MP:0005369 9.5 AGRN DAG1 DMD FKTN LAMA2 LMNA
4 nervous system MP:0003631 9.1 DMD FKTN LAMA2 LMNA AGRN DAG1

Drugs & Therapeutics for Muscular Dystrophy, Congenital Merosin-Deficient, 1a

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
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, 1a

Genetic Tests for Muscular Dystrophy, Congenital Merosin-Deficient, 1a

Genetic tests related to Muscular Dystrophy, Congenital Merosin-Deficient, 1a:

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

Anatomical Context for Muscular Dystrophy, Congenital Merosin-Deficient, 1a

MalaCards organs/tissues related to Muscular Dystrophy, Congenital Merosin-Deficient, 1a:

41
Brain, Tongue, Skin

Publications for Muscular Dystrophy, Congenital Merosin-Deficient, 1a

Articles related to Muscular Dystrophy, Congenital Merosin-Deficient, 1a:

(show all 12)
# Title Authors Year
1
Brain MRI features of merosin-negative congenital muscular dystrophy. ( 17991069 )
2007
2
Merosin-negative congenital muscular dystrophy: diffusion-weighted imaging findings of brain. ( 17690079 )
2007
3
Merosin-negative congenital muscular dystrophy: magnetic resonance spectroscopy findings. ( 15862197 )
2005
4
Merosin negative congenital muscular dystrophy: a short report. ( 14652462 )
2003
5
Nonmuscular involvement in merosin-negative congenital muscular dystrophy. ( 11814732 )
2002
6
A case of merosin-negative congenital muscular dystrophy with extensive white matter abnormalities and electroencephalographic changes in a Syrian boy. ( 12184464 )
2001
7
Immunohistochemical study of merosin-negative congenital muscular dystrophy: laminin alpha 2 deficiency in skin biopsy. ( 9255383 )
1997
8
Basement membrane abnormality in merosin-negative congenital muscular dystrophy. ( 8928608 )
1996
9
Merosin-negative congenital muscular dystrophy, occipital epilepsy with periodic spasms and focal cortical dysplasia. Report of three Italian cases in two families. ( 8879653 )
1996
10
Merosin-negative congenital muscular dystrophy associated with extensive brain abnormalities. ( 7501163 )
1995
11
Deficiency of laminin alpha 2-chain mRNA in muscle in a patient with merosin-negative congenital muscular dystrophy. ( 7643867 )
1995
12
Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping. ( 7833925 )
1994

Variations for Muscular Dystrophy, Congenital Merosin-Deficient, 1a

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy, Congenital Merosin-Deficient, 1a:

75
# 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 rs886039896

ClinVar genetic disease variations for Muscular Dystrophy, Congenital Merosin-Deficient, 1a:

6
(show top 50) (show all 149)
# 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.3718C> T (p.Gln1240Ter) single nucleotide variant Pathogenic rs121913569 GRCh38 Chromosome 6, 129315638: 129315638
4 LAMA2 LAMA2, 1-BP DEL, 8314A deletion Pathogenic
5 LAMA2 LAMA2, IVS25, T-C, +2 single nucleotide variant Pathogenic
6 LAMA2 NM_000426.3(LAMA2): c.7691T> C (p.Leu2564Pro) single nucleotide variant Pathogenic rs121913570 GRCh37 Chromosome 6, 129802526: 129802526
7 LAMA2 NM_000426.3(LAMA2): c.7691T> C (p.Leu2564Pro) single nucleotide variant Pathogenic rs121913570 GRCh38 Chromosome 6, 129481381: 129481381
8 LAMA2 LAMA2, 2-BP DEL, 2098AG deletion Pathogenic
9 LAMA2 NM_000426.3(LAMA2): c.7732C> T (p.Arg2578Ter) single nucleotide variant Pathogenic rs121913572 GRCh37 Chromosome 6, 129802567: 129802567
10 LAMA2 NM_000426.3(LAMA2): c.7732C> T (p.Arg2578Ter) single nucleotide variant Pathogenic rs121913572 GRCh38 Chromosome 6, 129481422: 129481422
11 LAMA2 NM_000426.3(LAMA2): c.4645C> T (p.Arg1549Ter) single nucleotide variant Pathogenic rs121913575 GRCh37 Chromosome 6, 129674430: 129674430
12 LAMA2 NM_000426.3(LAMA2): c.4645C> T (p.Arg1549Ter) single nucleotide variant Pathogenic rs121913575 GRCh38 Chromosome 6, 129353285: 129353285
13 LAMA2 NM_000426.3(LAMA2): c.7147C> T (p.Arg2383Ter) single nucleotide variant Pathogenic rs121913576 GRCh37 Chromosome 6, 129785589: 129785589
14 LAMA2 NM_000426.3(LAMA2): c.7147C> T (p.Arg2383Ter) single nucleotide variant Pathogenic rs121913576 GRCh38 Chromosome 6, 129464444: 129464444
15 LAMA2 NM_000426.3(LAMA2): c.2901C> A (p.Cys967Ter) single nucleotide variant Pathogenic rs121913577 GRCh37 Chromosome 6, 129618874: 129618874
16 LAMA2 NM_000426.3(LAMA2): c.2901C> A (p.Cys967Ter) single nucleotide variant Pathogenic rs121913577 GRCh38 Chromosome 6, 129297729: 129297729
17 LAMA1; LAMA2 LAMA, 1-BP DEL, 825C deletion Pathogenic
18 LAMA2 NM_000426.3(LAMA2): c.7750-1713_7899-2153del4987 deletion Pathogenic GRCh37 Chromosome 6, 129805906: 129810893
19 LAMA2 NM_000426.3(LAMA2): c.7750-1713_7899-2153del4987 deletion Pathogenic GRCh38 Chromosome 6, 129484761: 129489748
20 LAMA2 NM_000426.3(LAMA2): c.1854_1861dupACGTGTTC (p.Leu621Hisfs) duplication Pathogenic rs202247791 GRCh37 Chromosome 6, 129571328: 129571335
21 LAMA2 NM_000426.3(LAMA2): c.1854_1861dupACGTGTTC (p.Leu621Hisfs) duplication Pathogenic rs202247791 GRCh38 Chromosome 6, 129250183: 129250190
22 LAMA2 NM_000426.3(LAMA2): c.7881T> G (p.His2627Gln) single nucleotide variant Pathogenic/Likely pathogenic rs202247792 GRCh37 Chromosome 6, 129807750: 129807750
23 LAMA2 NM_000426.3(LAMA2): c.7881T> G (p.His2627Gln) single nucleotide variant Pathogenic/Likely pathogenic rs202247792 GRCh38 Chromosome 6, 129486605: 129486605
24 LAMA2 NM_000426.3(LAMA2): c.112+1G> A single nucleotide variant Pathogenic rs398123367 GRCh37 Chromosome 6, 129204503: 129204503
25 LAMA2 NM_000426.3(LAMA2): c.112+1G> A single nucleotide variant Pathogenic rs398123367 GRCh38 Chromosome 6, 128883358: 128883358
26 LAMA2 NM_000426.3(LAMA2): c.184G> T (p.Gly62Ter) single nucleotide variant Pathogenic rs398123368 GRCh37 Chromosome 6, 129371134: 129371134
27 LAMA2 NM_000426.3(LAMA2): c.184G> T (p.Gly62Ter) single nucleotide variant Pathogenic rs398123368 GRCh38 Chromosome 6, 129049989: 129049989
28 LAMA2 NM_000426.3(LAMA2): c.2750-1G> C single nucleotide variant Pathogenic rs9492297 GRCh37 Chromosome 6, 129612758: 129612758
29 LAMA2 NM_000426.3(LAMA2): c.2750-1G> C single nucleotide variant Pathogenic rs9492297 GRCh38 Chromosome 6, 129291613: 129291613
30 LAMA2 NM_000426.3(LAMA2): c.2962C> T (p.Gln988Ter) single nucleotide variant Pathogenic rs398123371 GRCh37 Chromosome 6, 129618935: 129618935
31 LAMA2 NM_000426.3(LAMA2): c.2962C> T (p.Gln988Ter) single nucleotide variant Pathogenic rs398123371 GRCh38 Chromosome 6, 129297790: 129297790
32 LAMA2 NM_000426.3(LAMA2): c.3630delT (p.Ile1210Metfs) deletion Pathogenic rs398123372 GRCh37 Chromosome 6, 129636695: 129636695
33 LAMA2 NM_000426.3(LAMA2): c.3630delT (p.Ile1210Metfs) deletion Pathogenic rs398123372 GRCh38 Chromosome 6, 129315550: 129315550
34 LAMA2 NM_000426.3(LAMA2): c.3976C> T (p.Arg1326Ter) single nucleotide variant Pathogenic rs398123373 GRCh37 Chromosome 6, 129637234: 129637234
35 LAMA2 NM_000426.3(LAMA2): c.3976C> T (p.Arg1326Ter) single nucleotide variant Pathogenic rs398123373 GRCh38 Chromosome 6, 129316089: 129316089
36 LAMA2 NM_000426.3(LAMA2): c.4523+1G> A single nucleotide variant Pathogenic rs398123375 GRCh37 Chromosome 6, 129670530: 129670530
37 LAMA2 NM_000426.3(LAMA2): c.4523+1G> A single nucleotide variant Pathogenic rs398123375 GRCh38 Chromosome 6, 129349385: 129349385
38 LAMA2 NM_000426.3(LAMA2): c.5050G> T (p.Glu1684Ter) single nucleotide variant Pathogenic rs201632009 GRCh37 Chromosome 6, 129704357: 129704357
39 LAMA2 NM_000426.3(LAMA2): c.5050G> T (p.Glu1684Ter) single nucleotide variant Pathogenic rs201632009 GRCh38 Chromosome 6, 129383212: 129383212
40 LAMA2 NM_000426.3(LAMA2): c.5706_5712delCTCATCT (p.Asp1902Glufs) deletion Pathogenic rs398123377 GRCh37 Chromosome 6, 129723612: 129723618
41 LAMA2 NM_000426.3(LAMA2): c.5706_5712delCTCATCT (p.Asp1902Glufs) deletion Pathogenic rs398123377 GRCh38 Chromosome 6, 129402467: 129402473
42 LAMA2 NM_000426.3(LAMA2): c.5914C> T (p.Gln1972Ter) single nucleotide variant Pathogenic rs398123378 GRCh37 Chromosome 6, 129748945: 129748945
43 LAMA2 NM_000426.3(LAMA2): c.5914C> T (p.Gln1972Ter) single nucleotide variant Pathogenic rs398123378 GRCh38 Chromosome 6, 129427800: 129427800
44 LAMA2 NM_000426.3(LAMA2): c.6011delA (p.Asn2004Metfs) deletion Pathogenic rs398123379 GRCh37 Chromosome 6, 129759833: 129759833
45 LAMA2 NM_000426.3(LAMA2): c.6011delA (p.Asn2004Metfs) deletion Pathogenic rs398123379 GRCh38 Chromosome 6, 129438688: 129438688
46 LAMA2 NM_000426.3(LAMA2): c.6038delT (p.Leu2013Terfs) deletion Pathogenic rs398123380 GRCh37 Chromosome 6, 129759860: 129759860
47 LAMA2 NM_000426.3(LAMA2): c.6038delT (p.Leu2013Terfs) deletion Pathogenic rs398123380 GRCh38 Chromosome 6, 129438715: 129438715
48 LAMA2 NM_000426.3(LAMA2): c.6955C> T (p.Arg2319Ter) single nucleotide variant Pathogenic rs398123383 GRCh37 Chromosome 6, 129781432: 129781432
49 LAMA2 NM_000426.3(LAMA2): c.6955C> T (p.Arg2319Ter) single nucleotide variant Pathogenic rs398123383 GRCh38 Chromosome 6, 129460287: 129460287
50 LAMA2 NM_000426.3(LAMA2): c.7279_7280delCT (p.Leu2427Valfs) deletion Pathogenic rs398123385 GRCh37 Chromosome 6, 129786413: 129786414

Expression for Muscular Dystrophy, Congenital Merosin-Deficient, 1a

Search GEO for disease gene expression data for Muscular Dystrophy, Congenital Merosin-Deficient, 1a.

Pathways for Muscular Dystrophy, Congenital Merosin-Deficient, 1a

Pathways related to Muscular Dystrophy, Congenital Merosin-Deficient, 1a according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.52 DAG1 DMD LAMA2 SGCA
2
Show member pathways
12.36 AGRN DAG1 DMD LAMA2
3
Show member pathways
12.13 DAG1 DMD LMNA
4
Show member pathways
12.06 DAG1 DMD LAMA2 LMNA SGCA
5
Show member pathways
11.79 AGRN DAG1 LAMA2
6
Show member pathways
11.59 DAG1 DMD LAMA2 LMNA SGCA
7 11.38 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 10.82 B3GALNT2 FKTN
12 10.2 AGRN DAG1 DMD LAMA2

GO Terms for Muscular Dystrophy, Congenital Merosin-Deficient, 1a

Cellular components related to Muscular Dystrophy, Congenital Merosin-Deficient, 1a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 9.58 AGRN DAG1 LAMA2
2 membrane raft GO:0045121 9.54 DAG1 DMD SGCA
3 basement membrane GO:0005604 9.46 DAG1 LAMA2
4 filopodium GO:0030175 9.43 DAG1 DMD
5 costamere GO:0043034 9.32 DAG1 DMD
6 basal lamina GO:0005605 9.26 AGRN LAMA2
7 sarcolemma GO:0042383 9.26 DAG1 DMD LAMA2 SGCA
8 dystroglycan complex GO:0016011 9.16 DAG1 SGCA
9 dystrophin-associated glycoprotein complex GO:0016010 8.8 DAG1 DMD SGCA

Biological processes related to Muscular Dystrophy, Congenital Merosin-Deficient, 1a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.5 AGRN DAG1 LAMA2
2 protein O-linked glycosylation GO:0006493 9.37 B3GALNT2 DAG1
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, 1a according to GeneCards Suite gene sharing:

# 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, 1a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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