MDC1A
MCID: MSC162
MIFTS: 49

Muscular Dystrophy, Congenital Merosin-Deficient, 1a (MDC1A)

Categories: Cardiovascular diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare 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 Merosin-Deficient Muscular Dystrophy 1a 12 15
Muscular Dystrophy, Congenital Merosin-Deficient 57 13
Muscular Dystrophy Congenital, Merosin Negative 44 73
Merosin-Negative Congenital Muscular Dystrophy 12 59
Cmd1a 12 59
Muscular Dystrophy, Congenital, Merosin Deficient or Partially Deficient 57
Merosin-Deficient Congenital Muscular Dystrophy 1a 75
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 intellectual disability and seizures

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 : 75 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, 1a

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

(show all 45)
# Related Disease Score Top Affiliating Genes
1 cardiomyopathy, dilated, 1a 31.5 DAG1 DMD LAMA2 LMNA
2 muscular dystrophy, congenital, lmna-related 29.6 B3GALNT2 DAG1 DMD FKTN LAMA2 LMNA
3 muscular dystrophy 29.0 AGRN B3GALNT2 DAG1 DMD FKTN LAMA2
4 congenital muscular dystrophy type 1a 11.9
5 lama2-related muscular dystrophy 11.6
6 cardiomyopathy, dilated, 1l 11.1
7 epilepsy 10.3
8 leigh syndrome 10.1
9 muscular dystrophy-dystroglycanopathy 10.1 B3GALNT2 DAG1
10 ullrich congenital muscular dystrophy 1 10.0 LAMA2 LMNA
11 isolated hyperckemia 10.0 DMD LAMA2
12 creatine phosphokinase, elevated serum 10.0 DMD LAMA2
13 myopathy, x-linked, with excessive autophagy 10.0 DMD LAMA2
14 miyoshi muscular dystrophy 9.9 DMD LAMA2
15 familial isolated dilated cardiomyopathy 9.9 DMD FKTN
16 rigid spine muscular dystrophy 1 9.9 DMD LAMA2
17 malignant hyperthermia 9.9 DMD LAMA2
18 autosomal recessive limb-girdle muscular dystrophy 9.9 DMD SGCA
19 autosomal recessive limb-girdle muscular dystrophy type 2c 9.9 DMD SGCA
20 cardiomyopathy, dilated, 3b 9.9 DMD SGCA
21 intrinsic cardiomyopathy 9.9 DMD LMNA
22 autosomal recessive limb-girdle muscular dystrophy type 2b 9.9 DMD SGCA
23 mcleod syndrome 9.9 DMD SGCA
24 muscular dystrophy, limb-girdle, autosomal recessive 6 9.8 DMD SGCA
25 congenital fiber-type disproportion 9.8 DMD LMNA
26 cardiomyopathy, dilated, 1d 9.8 DAG1 DMD LAMA2
27 neuromuscular disease 9.8 DMD LAMA2 LMNA
28 myofibrillar myopathy 9.8 DMD LMNA
29 myocarditis 9.8 DAG1 DMD
30 bethlem myopathy 1 9.7 B3GALNT2 DMD LMNA
31 cardiomyopathy, dilated, 1b 9.7 DAG1 DMD FKTN LAMA2
32 muscular dystrophy, congenital, 1b 9.7 DAG1 DMD FKTN LAMA2
33 muscular dystrophy-dystroglycanopathy , type a, 1 9.7 DAG1 DMD FKTN LAMA2
34 muscle eye brain disease 9.7 B3GALNT2 DAG1 FKTN SGCA
35 muscular dystrophy-dystroglycanopathy , type a, 4 9.7 DAG1 DMD FKTN LAMA2
36 autosomal genetic disease 9.7 DMD LMNA
37 arrhythmogenic right ventricular cardiomyopathy 9.7 DMD LMNA SGCA
38 muscular dystrophy, becker type 9.6 DMD FKTN LAMA2 SGCA
39 muscular dystrophy-dystroglycanopathy , type b, 6 9.5 AGRN DAG1 DMD FKTN LAMA2
40 limb-girdle muscular dystrophy 9.4 DMD FKTN LAMA2 LMNA SGCA
41 muscular dystrophy-dystroglycanopathy , type b, 5 9.4 AGRN DAG1 DMD FKTN LAMA2 LMNA
42 muscle tissue disease 9.3 DAG1 DMD FKTN LAMA2 LMNA SGCA
43 dilated cardiomyopathy 9.3 DAG1 DMD FKTN LAMA2 LMNA SGCA
44 walker-warburg syndrome 9.1 AGRN B3GALNT2 DAG1 DMD FKTN LAMA2
45 muscular disease 9.1 AGRN DAG1 DMD FKTN LAMA2 LMNA

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 62)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 occasional (7.5%) Frequent (79-30%) HP:0001249
2 seizures 59 32 Frequent (79-30%) HP:0001250
3 muscular hypotonia 59 32 Very frequent (99-80%) HP:0001252
4 flexion contracture 59 32 Frequent (79-30%) HP:0001371
5 motor delay 59 32 Very frequent (99-80%) HP:0001270
6 muscular dystrophy 59 32 Very frequent (99-80%) HP:0003560
7 congenital muscular dystrophy 59 32 Very frequent (99-80%) HP:0003741
8 muscle weakness 59 Very frequent (99-80%)
9 dysphagia 59 Occasional (29-5%)
10 respiratory insufficiency 59 Frequent (79-30%)
11 scoliosis 59 Occasional (29-5%)
12 hyperlordosis 59 Occasional (29-5%)
13 facial palsy 59 Frequent (79-30%)
14 macroglossia 59 Frequent (79-30%)
15 neonatal hypotonia 59 Occasional (29-5%)
16 abnormality of visual evoked potentials 59 Occasional (29-5%)
17 gastroesophageal reflux 59 Very frequent (99-80%)
18 feeding difficulties in infancy 32 HP:0008872
19 cognitive impairment 59 Occasional (29-5%)
20 abnormality of metabolism/homeostasis 59 Very frequent (99-80%)
21 respiratory insufficiency due to muscle weakness 32 HP:0002747
22 elevated serum creatine phosphokinase 32 HP:0003236
23 arrhythmia 59 Occasional (29-5%)
24 pulmonary arterial hypertension 59 Very rare (<4-1%)
25 cardiomyopathy 59 Occasional (29-5%)
26 inability to walk 59 Very frequent (99-80%)
27 absence seizures 59 Occasional (29-5%)
28 respiratory failure 59 Very frequent (99-80%)
29 open mouth 59 Occasional (29-5%)
30 protruding tongue 59 Occasional (29-5%)
31 atelectasis 59 Occasional (29-5%)
32 areflexia 32 HP:0001284
33 focal seizures 59 Occasional (29-5%)
34 decreased body weight 59 Occasional (29-5%)
35 pachygyria 59 Occasional (29-5%)
36 weak cry 59 Very frequent (99-80%)
37 hypokinesia 59 Very frequent (99-80%)
38 increased connective tissue 59 Very frequent (99-80%)
39 absent muscle fiber merosin 59 Very frequent (99-80%)
40 highly elevated creatine phosphokinase 59 Very frequent (99-80%)
41 muscle fiber atrophy 59 Very frequent (99-80%)
42 myositis 59 Very frequent (99-80%)
43 cerebral edema 59 Frequent (79-30%)
44 astrocytosis 59 Frequent (79-30%)
45 recurrent lower respiratory tract infections 59 Frequent (79-30%)
46 aspiration 59 Frequent (79-30%)
47 chewing difficulties 59 Frequent (79-30%)
48 abnormality of the temporomandibular joint 59 Frequent (79-30%)
49 abnormal brainstem mri signal intensity 59 Frequent (79-30%)
50 lissencephaly 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 AGRN DAG1 DMD FKTN LAMA2 LMNA

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

Interventional clinical trials:


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

Search NIH Clinical Center for Muscular Dystrophy, Congenital Merosin-Deficient, 1a

Cochrane evidence based reviews: muscular dystrophy congenital, merosin negative

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

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

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

41
Brain, Tongue, Skin, Eye, Skeletal Muscle

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

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

(show all 20)
# Title Authors Year
1
Life or death by NFκB, Losartan promotes survival in dy2J/dy2J mouse of MDC1A. ( 25766329 )
2015
2
Magnetic Resonance Imaging Is Sensitive to Pathological Amelioration in a Model for Laminin-Deficient Congenital Muscular Dystrophy (MDC1A). ( 26379183 )
2015
3
Integrin dysregulation as a possible driver of matrix remodeling in Laminin-deficient congenital muscular dystrophy (MDC1A). ( 28198706 )
2015
4
Merosin-negative congenital muscular dystrophy: Report of five cases. ( 26962340 )
2015
5
Immortalized myogenic cells from congenital muscular dystrophy type1A patients recapitulate aberrant caspase activation in pathogenesis: a new tool for MDC1A research. ( 24314268 )
2013
6
Skeletal muscle laminin and MDC1A: pathogenesis and treatment strategies. ( 21798088 )
2011
7
Autophagy is increased in laminin α2 chain-deficient muscle and its inhibition improves muscle morphology in a mouse model of MDC1A. ( 21920942 )
2011
8
Brain MRI features of merosin-negative congenital muscular dystrophy. ( 17991069 )
2007
9
Merosin-negative congenital muscular dystrophy: diffusion-weighted imaging findings of brain. ( 17690079 )
2007
10
Merosin-negative congenital muscular dystrophy: magnetic resonance spectroscopy findings. ( 15862197 )
2005
11
Merosin negative congenital muscular dystrophy: a short report. ( 14652462 )
2003
12
Nonmuscular involvement in merosin-negative congenital muscular dystrophy. ( 11814732 )
2002
13
Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for alpha2 chain of laminin). ( 11938437 )
2002
14
A case of merosin-negative congenital muscular dystrophy with extensive white matter abnormalities and electroencephalographic changes in a Syrian boy. ( 12184464 )
2001
15
Immunohistochemical study of merosin-negative congenital muscular dystrophy: laminin alpha 2 deficiency in skin biopsy. ( 9255383 )
1997
16
Basement membrane abnormality in merosin-negative congenital muscular dystrophy. ( 8928608 )
1996
17
Merosin-negative congenital muscular dystrophy, occipital epilepsy with periodic spasms and focal cortical dysplasia. Report of three Italian cases in two families. ( 8879653 )
1996
18
Merosin-negative congenital muscular dystrophy associated with extensive brain abnormalities. ( 7501163 )
1995
19
Deficiency of laminin alpha 2-chain mRNA in muscle in a patient with merosin-negative congenital muscular dystrophy. ( 7643867 )
1995
20
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 489)
# 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/Likely pathogenic rs121913569 GRCh37 Chromosome 6, 129636783: 129636783
3 LAMA2 NM_000426.3(LAMA2): c.3718C> T (p.Gln1240Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121913569 GRCh38 Chromosome 6, 129315638: 129315638
4 LAMA2 NM_000426.3(LAMA2): c.9253C> T (p.Arg3085Ter) single nucleotide variant Uncertain significance rs121913571 GRCh37 Chromosome 6, 129837376: 129837376
5 LAMA2 NM_000426.3(LAMA2): c.9253C> T (p.Arg3085Ter) single nucleotide variant Uncertain significance rs121913571 GRCh38 Chromosome 6, 129516231: 129516231
6 LAMA2 LAMA2, 1-BP DEL, 8314A deletion Pathogenic
7 LAMA2 NM_000426.3(LAMA2): c.7691T> C (p.Leu2564Pro) single nucleotide variant Pathogenic rs121913570 GRCh37 Chromosome 6, 129802526: 129802526
8 LAMA2 NM_000426.3(LAMA2): c.7691T> C (p.Leu2564Pro) single nucleotide variant Pathogenic rs121913570 GRCh38 Chromosome 6, 129481381: 129481381
9 LAMA2 LAMA2, 2-BP DEL, 2098AG deletion Pathogenic
10 LAMA2 NM_000426.3(LAMA2): c.7732C> T (p.Arg2578Ter) single nucleotide variant Pathogenic rs121913572 GRCh37 Chromosome 6, 129802567: 129802567
11 LAMA2 NM_000426.3(LAMA2): c.7732C> T (p.Arg2578Ter) single nucleotide variant Pathogenic rs121913572 GRCh38 Chromosome 6, 129481422: 129481422
12 LAMA2 NM_000426.3(LAMA2): c.4645C> T (p.Arg1549Ter) single nucleotide variant Pathogenic rs121913575 GRCh37 Chromosome 6, 129674430: 129674430
13 LAMA2 NM_000426.3(LAMA2): c.4645C> T (p.Arg1549Ter) single nucleotide variant Pathogenic rs121913575 GRCh38 Chromosome 6, 129353285: 129353285
14 LAMA2 NM_000426.3(LAMA2): c.7147C> T (p.Arg2383Ter) single nucleotide variant Pathogenic rs121913576 GRCh37 Chromosome 6, 129785589: 129785589
15 LAMA2 NM_000426.3(LAMA2): c.7147C> T (p.Arg2383Ter) single nucleotide variant Pathogenic rs121913576 GRCh38 Chromosome 6, 129464444: 129464444
16 LAMA2 NM_000426.3(LAMA2): c.2901C> A (p.Cys967Ter) single nucleotide variant Pathogenic rs121913577 GRCh37 Chromosome 6, 129618874: 129618874
17 LAMA2 NM_000426.3(LAMA2): c.2901C> A (p.Cys967Ter) single nucleotide variant Pathogenic rs121913577 GRCh38 Chromosome 6, 129297729: 129297729
18 LAMA1; LAMA2 LAMA, 1-BP DEL, 825C deletion Pathogenic
19 LAMA2 NM_000426.3(LAMA2): c.7750-1713_7899-2153del4987 deletion Pathogenic GRCh37 Chromosome 6, 129805906: 129810893
20 LAMA2 NM_000426.3(LAMA2): c.7750-1713_7899-2153del4987 deletion Pathogenic GRCh38 Chromosome 6, 129484761: 129489748
21 LAMA2 NM_000426.3(LAMA2): c.1854_1861dupACGTGTTC (p.Leu621Hisfs) duplication Pathogenic rs202247791 GRCh37 Chromosome 6, 129571328: 129571335
22 LAMA2 NM_000426.3(LAMA2): c.1854_1861dupACGTGTTC (p.Leu621Hisfs) duplication Pathogenic rs202247791 GRCh38 Chromosome 6, 129250183: 129250190
23 LAMA2 NM_000426.3(LAMA2): c.2049_2050delAG (p.Arg683Serfs) deletion Conflicting interpretations of pathogenicity rs202247790 GRCh37 Chromosome 6, 129573393: 129573394
24 LAMA2 NM_000426.3(LAMA2): c.2049_2050delAG (p.Arg683Serfs) deletion Conflicting interpretations of pathogenicity rs202247790 GRCh38 Chromosome 6, 129252248: 129252249
25 LAMA2 NM_000426.3(LAMA2): c.7881T> G (p.His2627Gln) single nucleotide variant Likely pathogenic rs202247792 GRCh37 Chromosome 6, 129807750: 129807750
26 LAMA2 NM_000426.3(LAMA2): c.7881T> G (p.His2627Gln) single nucleotide variant Likely pathogenic rs202247792 GRCh38 Chromosome 6, 129486605: 129486605
27 LAMA2 NM_000426.3(LAMA2): c.3861C> T (p.Ile1287=) single nucleotide variant Likely benign rs138702650 GRCh37 Chromosome 6, 129637032: 129637032
28 LAMA2 NM_000426.3(LAMA2): c.3861C> T (p.Ile1287=) single nucleotide variant Likely benign rs138702650 GRCh38 Chromosome 6, 129315887: 129315887
29 LAMA2 NM_000426.3(LAMA2): c.3861C> T (p.Ile1287=) single nucleotide variant Likely benign rs138702650 NCBI36 Chromosome 6, 129678725: 129678725
30 LAMA2 NM_000426.3(LAMA2): c.112+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs398123367 GRCh37 Chromosome 6, 129204503: 129204503
31 LAMA2 NM_000426.3(LAMA2): c.112+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs398123367 GRCh38 Chromosome 6, 128883358: 128883358
32 LAMA2 NM_000426.3(LAMA2): c.156C> T (p.Ile52=) single nucleotide variant Benign/Likely benign rs1140366 GRCh37 Chromosome 6, 129371106: 129371106
33 LAMA2 NM_000426.3(LAMA2): c.156C> T (p.Ile52=) single nucleotide variant Benign/Likely benign rs1140366 GRCh38 Chromosome 6, 129049961: 129049961
34 LAMA2 NM_000426.3(LAMA2): c.184G> T (p.Gly62Ter) single nucleotide variant Pathogenic rs398123368 GRCh37 Chromosome 6, 129371134: 129371134
35 LAMA2 NM_000426.3(LAMA2): c.184G> T (p.Gly62Ter) single nucleotide variant Pathogenic rs398123368 GRCh38 Chromosome 6, 129049989: 129049989
36 LAMA2 NM_000426.3(LAMA2): c.1856G> A (p.Arg619His) single nucleotide variant Benign rs3816665 GRCh37 Chromosome 6, 129571330: 129571330
37 LAMA2 NM_000426.3(LAMA2): c.1856G> A (p.Arg619His) single nucleotide variant Benign rs3816665 GRCh38 Chromosome 6, 129250185: 129250185
38 LAMA2 NM_000426.3(LAMA2): c.2037G> C (p.Ala679=) single nucleotide variant Conflicting interpretations of pathogenicity rs398123369 GRCh37 Chromosome 6, 129573381: 129573381
39 LAMA2 NM_000426.3(LAMA2): c.2037G> C (p.Ala679=) single nucleotide variant Conflicting interpretations of pathogenicity rs398123369 GRCh38 Chromosome 6, 129252236: 129252236
40 LAMA2 NM_000426.3(LAMA2): c.2375T> C (p.Phe792Ser) single nucleotide variant Uncertain significance rs398123370 GRCh37 Chromosome 6, 129591821: 129591821
41 LAMA2 NM_000426.3(LAMA2): c.2375T> C (p.Phe792Ser) single nucleotide variant Uncertain significance rs398123370 GRCh38 Chromosome 6, 129270676: 129270676
42 LAMA2 NM_000426.3(LAMA2): c.2750-1G> C single nucleotide variant Pathogenic rs9492297 GRCh37 Chromosome 6, 129612758: 129612758
43 LAMA2 NM_000426.3(LAMA2): c.2750-1G> C single nucleotide variant Pathogenic rs9492297 GRCh38 Chromosome 6, 129291613: 129291613
44 LAMA2 NM_000426.3(LAMA2): c.2799A> G (p.Gln933=) single nucleotide variant Benign rs1027199 GRCh37 Chromosome 6, 129612808: 129612808
45 LAMA2 NM_000426.3(LAMA2): c.2799A> G (p.Gln933=) single nucleotide variant Benign rs1027199 GRCh38 Chromosome 6, 129291663: 129291663
46 LAMA2 NM_000426.3(LAMA2): c.2962C> T (p.Gln988Ter) single nucleotide variant Pathogenic/Likely pathogenic rs398123371 GRCh37 Chromosome 6, 129618935: 129618935
47 LAMA2 NM_000426.3(LAMA2): c.2962C> T (p.Gln988Ter) single nucleotide variant Pathogenic/Likely pathogenic rs398123371 GRCh38 Chromosome 6, 129297790: 129297790
48 LAMA2 NM_000426.3(LAMA2): c.3411+13G> A single nucleotide variant Benign rs3798663 GRCh37 Chromosome 6, 129634255: 129634255
49 LAMA2 NM_000426.3(LAMA2): c.3411+13G> A single nucleotide variant Benign rs3798663 GRCh38 Chromosome 6, 129313110: 129313110
50 LAMA2 NM_000426.3(LAMA2): c.3412G> A (p.Val1138Met) single nucleotide variant Benign/Likely benign rs2306942 GRCh37 Chromosome 6, 129635800: 129635800

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
12.5 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 10.84 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 collagen-containing extracellular matrix GO:0062023 9.58 AGRN DAG1 LAMA2
2 membrane raft GO:0045121 9.54 DAG1 DMD SGCA
3 filopodium GO:0030175 9.43 DAG1 DMD
4 basement membrane GO:0005604 9.43 AGRN DAG1 LAMA2
5 costamere GO:0043034 9.32 DAG1 DMD
6 dystroglycan complex GO:0016011 9.16 DAG1 SGCA
7 dystrophin-associated glycoprotein complex GO:0016010 9.13 DAG1 DMD SGCA
8 sarcolemma GO:0042383 8.92 DAG1 DMD LAMA2 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 FKTN
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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