MDC1A
MCID: MSC162
MIFTS: 55

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

Categories: Cardiovascular diseases, Genetic diseases, Muscle diseases, Neuronal 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 72 54
Congenital Merosin-Deficient Muscular Dystrophy 1a 12 15
Muscular Dystrophy, Congenital Merosin-Deficient 57 13
Merosin Deficient Congenital Muscular Dystrophy 29 6
Muscular Dystrophy Congenital, Merosin Negative 44 70
Muscular Dystrophy, Congenital, Merosin Deficient or Partially Deficient 57
Congenital Muscular Dystrophy Due to Laminin Alpha2 Deficiency 12
Merosin-Deficient Congenital Muscular Dystrophy 1a 72
Merosin-Negative Congenital Muscular Dystrophy 12
Cardiomyopathy, Familial Idiopathic 70
Cmd1a 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

31
muscular dystrophy, congenital merosin-deficient, 1a:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



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) (Updated 05-Apr-2021)

MalaCards based summary : Muscular Dystrophy, Congenital Merosin-Deficient, 1a, also known as mdc1a, is related to muscular dystrophy-dystroglycanopathy , type a, 1 and progressive muscular dystrophy. 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 and skeletal muscle, and related phenotypes are intellectual disability and ophthalmoplegia

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 : 72 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 top 50) (show all 132)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy-dystroglycanopathy , type a, 1 30.1 POMT2 POMT1 FKTN FKRP
2 progressive muscular dystrophy 30.1 SGCA DMD
3 respiratory failure 30.0 SELENON LAMA2 FKRP DMD
4 malignant hyperthermia 29.9 SELENON LAMA2 DMD
5 batten-turner congenital myopathy 29.7 SELENON ITGA7 DYSF DMD
6 muscular dystrophy-dystroglycanopathy , type b, 5 29.6 POMT2 POMT1 POMGNT1 LAMA2 FKTN FKRP
7 muscle eye brain disease 29.1 POMT2 POMT1 POMGNT1 LAMA2 FKTN FKRP
8 cobblestone lissencephaly 29.1 POMT2 POMT1 POMGNT1 FKTN FKRP DMD
9 lissencephaly 29.1 POMT2 POMT1 POMGNT1 FKTN FKRP DMD
10 limb-girdle muscular dystrophy 28.7 SGCG SGCD SGCA POMT1 POMGNT1 LMNA
11 muscular dystrophy-dystroglycanopathy , type a, 4 28.4 SGCA POMT2 POMT1 POMGNT1 LAMA2 ITGA7
12 dilated cardiomyopathy 28.1 SGCG SGCD SGCA LMNA LAMA2 ITGA7
13 muscular dystrophy, congenital, lmna-related 27.8 SELENON POMT2 POMT1 POMGNT1 LMNA LAMA2
14 myopathy 27.6 UTRN SGCG SGCD SGCA SELENON POMT1
15 neuromuscular disease 27.4 UTRN SGCG SGCD SGCA SELENON LMNA
16 walker-warburg syndrome 26.5 UTRN SGCG SGCD SGCA SELENON POMT2
17 muscular dystrophy 26.1 UTRN SGCG SGCD SGCA SELENON POMT2
18 congenital muscular dystrophy type 1a 11.4
19 cardiomyopathy, dilated, 1a 11.2
20 cardiomyopathy, dilated, 1l 11.0
21 laminin subunit alpha 2-related congenital muscular dystrophy 11.0
22 neuropathy 10.5
23 peripheral nervous system disease 10.5
24 scoliosis 10.4
25 pachygyria 10.4
26 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.4
27 polymicrogyria 10.4
28 congenital muscular dystrophy-dystroglycanopathy type a5 10.3 FKRP DAG1
29 cardiomyopathy, dilated, 1x 10.3 FKTN DAG1
30 rigid spine muscular dystrophy 10.3 SELENON LMNA
31 congenital muscular dystrophy-dystroglycanopathy type a10 10.3 SELENON LAMA2
32 limb-girdle muscular dystrophy type 1c 10.2 FKRP DYSF
33 cardiomyopathy, dilated, 1b 10.2
34 myopathy, proximal, with ophthalmoplegia 10.2
35 muscular dystrophy-dystroglycanopathy , type b, 1 10.2
36 metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 10.2
37 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.2
38 pontocerebellar hypoplasia 10.2
39 transient neonatal diabetes mellitus 10.2
40 cerebellar hypoplasia 10.2
41 neonatal diabetes 10.2
42 epilepsy 10.2
43 demyelinating polyneuropathy 10.2
44 myocarditis 10.2
45 diabetes mellitus 10.2
46 cerebral cortical dysplasia 10.2
47 congenital muscular dystrophy-dystroglycanopathy a7 10.2 FKTN FKRP
48 limb-girdle muscular dystrophy type 1a 10.2 FKRP DYSF
49 canavan disease 10.2
50 autosomal recessive disease 10.2

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

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

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 occasional (7.5%) HP:0001249
2 ophthalmoplegia 31 occasional (7.5%) HP:0000602
3 flexion contracture 31 HP:0001371
4 feeding difficulties in infancy 31 HP:0008872
5 elevated serum creatine kinase 31 HP:0003236
6 respiratory insufficiency due to muscle weakness 31 HP:0002747
7 motor delay 31 HP:0001270
8 kyphoscoliosis 31 HP:0002751
9 areflexia 31 HP:0001284
10 muscular dystrophy 31 HP:0003560
11 abnormal cortical gyration 31 HP:0002536
12 generalized hypotonia 31 HP:0001290
13 congenital muscular dystrophy 31 HP:0003741
14 increased endomysial connective tissue 31 HP:0100297
15 hypointensity of cerebral white matter on mri 31 HP:0007103
16 seizure 31 HP:0001250
17 hypotonia 31 HP:0001252

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Abdomen Gastrointestinal:
feeding difficulties

Muscle Soft Tissue:
hypotonia
delayed motor development
myopathic changes seen on emg
dystrophic changes seen on muscle biopsy
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 (Updated 05-Apr-2021)

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 10.39 AGRN COL6A1 DAG1 DMD DYSF FKRP
2 growth/size/body region MP:0005378 10.27 AGRN COL6A1 DAG1 DMD FKRP FKTN
3 cardiovascular system MP:0005385 10.25 AGRN DAG1 DMD FKRP ITGA7 LAMA1
4 cellular MP:0005384 10.22 DAG1 DMD FKRP FKTN ITGA7 LAMA1
5 homeostasis/metabolism MP:0005376 10.22 AGRN COL6A1 DAG1 DMD DYSF FKRP
6 mortality/aging MP:0010768 10.16 AGRN DAG1 DMD FKRP FKTN ITGA7
7 muscle MP:0005369 10.09 AGRN COL6A1 DAG1 DMD DYSF FKRP
8 nervous system MP:0003631 9.8 AGRN DAG1 DMD FKRP FKTN ITGA7
9 skeleton MP:0005390 9.28 COL6A1 DMD FKRP ITGA7 LAMA2 LMNA

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 LAMA2 Retrospective Review of Medical Charts in Infants & Toddlers With LAMA2-CMD Recruiting NCT04299321
2 The Natural History of Patients With Congenital Muscular Dystrophies Due to Mutations in the SELENON or LAMA2 Genes: Working Towards Trial-readiness in Two Mitochondrial Myopathy Mimics Recruiting NCT04478981
3 A LAMA2-related Muscular Dystrophy Study: Brain Magnetic Resonance Imaging (MRI)and Brain Electrophysiology Evaluation Withdrawn NCT01952028

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

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

# Genetic test Affiliating Genes
1 Merosin Deficient Congenital Muscular Dystrophy 29 LAMA2

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

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

40
Brain, Skeletal Muscle

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

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

(show top 50) (show all 170)
# Title Authors PMID Year
1
LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients. 6 54 57 61
18700894 2008
2
LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypes. 6 57 61
30055037 2018
3
Genotype/phenotype analysis in Chinese laminin-α2 deficient congenital muscular dystrophy patients. 6 57
24611677 2015
4
LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect. 6 57
16216942 2005
5
Clinical and molecular study in congenital muscular dystrophy with partial laminin alpha 2 (LAMA2) deficiency. 57 6
12552556 2003
6
A novel laminin alpha2 isoform in severe laminin alpha2 deficient congenital muscular dystrophy. 57 6
11071490 2000
7
Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. 6 57
7550355 1995
8
Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations. 54 61 6
20207543 2010
9
Ku70 regulates Bax-mediated pathogenesis in laminin-alpha2-deficient human muscle cells and mouse models of congenital muscular dystrophy. 54 61 57
19692349 2009
10
Severe MDC1A congenital muscular dystrophy due to a splicing mutation in the LAMA2 gene resulting in exon skipping and significant decrease of mRNA level. 54 6 61
17949279 2007
11
Expression profiling of muscles from Fukuyama-type congenital muscular dystrophy and laminin-alpha 2 deficient congenital muscular dystrophy; is congenital muscular dystrophy a primary fibrotic disease? 57 61 54
16487936 2006
12
A mutation-independent approach for muscular dystrophy via upregulation of a modifier gene. 61 57
31341277 2019
13
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period. 6 61
28688748 2017
14
Segmental uniparental isodisomy of chromosome 6 causing transient diabetes mellitus and merosin-deficient congenital muscular dystrophy. 61 6
25124546 2014
15
High creatine kinase levels and white matter changes: clinical and genetic spectrum of congenital muscular dystrophies with laminin alpha-2 deficiency. 61 6
24225367 2014
16
Merosin-deficient congenital muscular dystrophy type 1A: A case report. 61 6
24223650 2013
17
LAMA2 Muscular Dystrophy 61 6
22675738 2012
18
Deletion of exon 4 in LAMA2 is the most frequent mutation in Chinese patients with laminin α2-related muscular dystrophy. 6
30301903 2018
19
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. 6
27708273 2017
20
Comprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan. 6
28182637 2017
21
Diagnosis and etiology of congenital muscular dystrophy: We are halfway there. 6
27159402 2016
22
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. 6
27854218 2016
23
Targeted Next Generation Sequencing Identifies a Novel Deletion in LAMA2 Gene in a Merosin Deficient Congenital Muscular Dystrophy Patient. 6
26104111 2016
24
LAMA2-related myopathy: Frequency among congenital and limb-girdle muscular dystrophies. 6
25663498 2015
25
Laminin α2 Deficiency-Related Muscular Dystrophy Mimicking Emery-Dreifuss and Collagen VI related Diseases. 6
27858741 2015
26
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 6
25525159 2015
27
Atypical phenotype in two patients with LAMA2 mutations. 6
24534542 2014
28
Next generation sequencing in the identification of a rare genetic disease from preconceptional couple screening to preimplantation genetic diagnosis. 6
25332755 2014
29
Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel. 6
23326386 2013
30
Pathology is alleviated by doxycycline in a laminin-alpha2-null model of congenital muscular dystrophy. 57
19086074 2009
31
Canine and feline models of human inherited muscle diseases. 57
15694134 2005
32
Laminin alpha1 chain reduces muscular dystrophy in laminin alpha2 chain deficient mice. 57
15213105 2004
33
cDNA microarray analysis of individual Duchenne muscular dystrophy patients. 57
12620965 2003
34
Severe congenital muscular dystrophy in a Mexican family with a new nonsense mutation (R2578X) in the laminin alpha-2 gene. 6
12601554 2003
35
Congenital muscular dystrophy with primary partial laminin alpha2 chain deficiency: molecular study. 6
11591858 2001
36
The expanding phenotype of laminin alpha2 chain (merosin) abnormalities: case series and review. 57
11584042 2001
37
An agrin minigene rescues dystrophic symptoms in a mouse model for congenital muscular dystrophy. 57
11565031 2001
38
Mild muscular dystrophy due to a nonsense mutation in the LAMA2 gene resulting in exon skipping. 6
11287370 2001
39
Structure of the C-terminal laminin G-like domain pair of the laminin alpha2 chain harbouring binding sites for alpha-dystroglycan and heparin. 6
10747011 2000
40
Mutations in the laminin alpha2-chain gene in two children with early-onset muscular dystrophy. 6
10611118 2000
41
The crystal structure of a laminin G-like module reveals the molecular basis of alpha-dystroglycan binding to laminins, perlecan, and agrin. 6
10619025 1999
42
Is there selection in favour of heterozygotes in families with merosin-deficient congenital muscular dystrophy? 57
10543397 1999
43
Merosin-deficient congenital muscular dystrophy: the spectrum of brain involvement on magnetic resonance imaging. 57
10220862 1999
44
Merosin-deficient congenital muscular dystrophy associated with abnormal cerebral cortical gyration: an autopsy study. 57
10220863 1999
45
Binding of the G domains of laminin alpha1 and alpha2 chains and perlecan to heparin, sulfatides, alpha-dystroglycan and several extracellular matrix proteins. 6
10022829 1999
46
Merosin-deficient congenital muscular dystrophy. Partial genetic correction in two mouse models. 57
9710454 1998
47
Laminin alpha2 muscular dystrophy: genotype/phenotype studies of 22 patients. 6
9674786 1998
48
PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy. 6
9541105 1998
49
Novel compound heterozygous laminina2-chain gene (LAMA2) mutations in congenital muscular dystrophy. Mutations in brief no. 159. Online. 6
10694916 1998
50
Genetics of laminin alpha 2 chain (or merosin) deficient congenital muscular dystrophy: from identification of mutations to prenatal diagnosis. 6
9185182 1997

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

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

6 (show top 50) (show all 657)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LAMA2 NM_000426.3(LAMA2):c.2584T>C (p.Cys862Arg) SNV Pathogenic 14297 rs121913573 GRCh37: 6:129609038-129609038
GRCh38: 6:129287893-129287893
2 LAMA2 LAMA2, 1-BP DEL, 8314A Deletion Pathogenic 14292 GRCh37:
GRCh38:
3 LAMA2 NM_000426.3(LAMA2):c.3924+2T>C SNV Pathogenic 447685 rs1554269966 GRCh37: 6:129637097-129637097
GRCh38: 6:129315952-129315952
4 LAMA2 NM_000426.3(LAMA2):c.7691T>C (p.Leu2564Pro) SNV Pathogenic 14294 rs121913570 GRCh37: 6:129802526-129802526
GRCh38: 6:129481381-129481381
5 LAMA2 LAMA2, 2-BP DEL, 2098AG Deletion Pathogenic 14295 GRCh37:
GRCh38:
6 LAMA2 NM_000426.4(LAMA2):c.7732C>T SNV Pathogenic 14296 rs121913572 GRCh37: 6:129802567-129802567
GRCh38: 6:129481422-129481422
7 LAMA2 NM_000426.3(LAMA2):c.1580G>A (p.Cys527Tyr) SNV Pathogenic 14298 rs121913574 GRCh37: 6:129511462-129511462
GRCh38: 6:129190317-129190317
8 LAMA2 NM_000426.3(LAMA2):c.4645C>T (p.Arg1549Ter) SNV Pathogenic 14299 rs121913575 GRCh37: 6:129674430-129674430
GRCh38: 6:129353285-129353285
9 LAMA2 NM_000426.3(LAMA2):c.7147C>T (p.Arg2383Ter) SNV Pathogenic 14300 rs121913576 GRCh37: 6:129785589-129785589
GRCh38: 6:129464444-129464444
10 LAMA2 NM_000426.3(LAMA2):c.2901C>A (p.Cys967Ter) SNV Pathogenic 14301 rs121913577 GRCh37: 6:129618874-129618874
GRCh38: 6:129297729-129297729
11 LAMA2 NM_000426.3(LAMA2):c.825del (p.Tyr276fs) Deletion Pathogenic 14302 rs1562275792 GRCh37: 6:129468109-129468109
GRCh38: 6:129146964-129146964
12 LAMA2 NM_000426.3(LAMA2):c.7750-1713_7899-2153del Deletion Pathogenic 14303 GRCh37: 6:129805906-129810893
GRCh38: 6:129484761-129489748
13 LAMA2 NM_001079823.2(LAMA2):c.1854_1861dup (p.Leu621fs) Duplication Pathogenic 38339 rs202247791 GRCh37: 6:129571327-129571328
GRCh38: 6:129250182-129250183
14 LAMA2 LAMA2, IVS30, A-T, -2 SNV Pathogenic 14289 GRCh37:
GRCh38:
15 LAMA2 NM_000426.4(LAMA2):c.2461A>C (p.Thr821Pro) SNV Pathogenic 190218 rs186538779 GRCh37: 6:129601216-129601216
GRCh38: 6:129280071-129280071
16 LAMA2 NM_000426.4(LAMA2):c.3976C>T SNV Pathogenic 92956 rs398123373 GRCh37: 6:129637234-129637234
GRCh38: 6:129316089-129316089
17 LAMA2 NM_000426.3(LAMA2):c.8665G>A (p.Gly2889Arg) SNV Pathogenic 266017 rs886039896 GRCh37: 6:129826462-129826462
GRCh38: 6:129505317-129505317
18 LAMA2 NM_000426.3(LAMA2):c.7147C>T (p.Arg2383Ter) SNV Pathogenic 14300 rs121913576 GRCh37: 6:129785589-129785589
GRCh38: 6:129464444-129464444
19 LAMA2 NM_000426.4(LAMA2):c.2045_2046AG[2] (p.Arg683fs) Microsatellite Pathogenic 38340 rs202247790 GRCh37: 6:129573393-129573394
GRCh38: 6:129252244-129252245
20 LAMA2 NM_000426.3(LAMA2):c.5116C>T (p.Arg1706Ter) SNV Pathogenic 287913 rs758775001 GRCh37: 6:129712680-129712680
GRCh38: 6:129391535-129391535
21 LAMA2 NM_000426.3(LAMA2):c.4048C>T (p.Arg1350Ter) SNV Pathogenic 284984 rs756854513 GRCh37: 6:129637306-129637306
GRCh38: 6:129316161-129316161
22 LAMA2 NM_000426.3(LAMA2):c.7452-1G>A SNV Pathogenic 437435 rs1554304931 GRCh37: 6:129799837-129799837
GRCh38: 6:129478692-129478692
23 LAMA2 NM_000426.3(LAMA2):c.397-4_478del Deletion Pathogenic 437434 rs1554217494 GRCh37: 6:129419314-129419399
GRCh38: 6:129098169-129098254
24 LAMA2 NM_000426.3(LAMA2):c.8244+1G>A SNV Pathogenic 550992 rs749522728 GRCh37: 6:129813629-129813629
GRCh38: 6:129492484-129492484
25 LAMA2 NM_000426.3(LAMA2):c.3085C>T (p.Arg1029Ter) SNV Pathogenic 551522 rs145420388 GRCh37: 6:129621928-129621928
GRCh38: 6:129300783-129300783
26 LAMA2 NM_000426.3(LAMA2):c.5156_5159del (p.Lys1719fs) Deletion Pathogenic 551648 rs1554286963 GRCh37: 6:129712717-129712720
GRCh38: 6:129391572-129391575
27 LAMA2 NM_000426.3(LAMA2):c.363C>A (p.Tyr121Ter) SNV Pathogenic 551699 rs535635043 GRCh37: 6:129381008-129381008
GRCh38: 6:129059863-129059863
28 LAMA2 NM_000426.3(LAMA2):c.1122del (p.Gly376fs) Deletion Pathogenic 552820 rs1338860420 GRCh37: 6:129475744-129475744
GRCh38: 6:129154599-129154599
29 LAMA2 NM_000426.3(LAMA2):c.2230C>T (p.Arg744Ter) SNV Pathogenic 554268 rs775676341 GRCh37: 6:129588272-129588272
GRCh38: 6:129267127-129267127
30 LAMA2 NM_000426.3(LAMA2):c.3799_3821del (p.Phe1267fs) Deletion Pathogenic 280520 rs750220830 GRCh37: 6:129636968-129636990
GRCh38: 6:129315823-129315845
31 LAMA2 NM_000426.3(LAMA2):c.1303C>T (p.Arg435Ter) SNV Pathogenic 235805 rs773209126 GRCh37: 6:129486817-129486817
GRCh38: 6:129165672-129165672
32 LAMA2 NM_000426.3(LAMA2):c.3955C>T (p.Arg1319Ter) SNV Pathogenic 623353 rs1180309541 GRCh37: 6:129637213-129637213
GRCh38: 6:129316068-129316068
33 LAMA2 NM_000426.4(LAMA2):c.3976C>T SNV Pathogenic 92956 rs398123373 GRCh37: 6:129637234-129637234
GRCh38: 6:129316089-129316089
34 LAMA2 NM_000426.3(LAMA2):c.5116C>T (p.Arg1706Ter) SNV Pathogenic 287913 rs758775001 GRCh37: 6:129712680-129712680
GRCh38: 6:129391535-129391535
35 LAMA2 NM_000426.3(LAMA2):c.7074C>A (p.Tyr2358Ter) SNV Pathogenic 431964 rs762806915 GRCh37: 6:129785516-129785516
GRCh38: 6:129464371-129464371
36 LAMA2 NM_000426.4(LAMA2):c.7732C>T SNV Pathogenic 14296 rs121913572 GRCh37: 6:129802567-129802567
GRCh38: 6:129481422-129481422
37 LAMA2 NM_000426.3(LAMA2):c.7490_7493dup (p.Asp2498fs) Duplication Pathogenic 558356 rs1480934961 GRCh37: 6:129799874-129799875
GRCh38: 6:129478729-129478730
38 LAMA2 NM_000426.3(LAMA2):c.4645C>T (p.Arg1549Ter) SNV Pathogenic 14299 rs121913575 GRCh37: 6:129674430-129674430
GRCh38: 6:129353285-129353285
39 LAMA2 NM_000426.3(LAMA2):c.3630del (p.Ile1210fs) Deletion Pathogenic 92954 rs398123372 GRCh37: 6:129636694-129636694
GRCh38: 6:129315549-129315549
40 LAMA2 NM_001079823.2(LAMA2):c.4959+1del Deletion Pathogenic 689487 rs1583591577 GRCh37: 6:129691134-129691134
GRCh38: 6:129369989-129369989
41 LAMA2 NM_000426.3(LAMA2):c.3924+2T>C SNV Pathogenic 447685 rs1554269966 GRCh37: 6:129637097-129637097
GRCh38: 6:129315952-129315952
42 LAMA2 NM_000426.3(LAMA2):c.1893_1897del (p.Asp631fs) Deletion Pathogenic 800887 rs746844753 GRCh37: 6:129573234-129573238
GRCh38: 6:129252089-129252093
43 LAMA2 NM_000426.4(LAMA2):c.3329del (p.Leu1110fs) Deletion Pathogenic 802262 rs1583470073 GRCh37: 6:129634160-129634160
GRCh38: 6:129313015-129313015
44 LAMA2 NM_000426.4(LAMA2):c.3560_3561CT[1] (p.Leu1188fs) Microsatellite Pathogenic 802263 rs1583475938 GRCh37: 6:129636625-129636626
GRCh38: 6:129315480-129315481
45 LAMA2 NM_000426.4(LAMA2):c.4739dup (p.Leu1581fs) Duplication Pathogenic 802264 rs1392196900 GRCh37: 6:129687383-129687384
GRCh38: 6:129366238-129366239
46 LAMA2 NM_000426.4(LAMA2):c.4936G>T (p.Glu1646Ter) SNV Pathogenic 802265 rs748541803 GRCh37: 6:129691112-129691112
GRCh38: 6:129369967-129369967
47 LAMA2 NM_000426.3(LAMA2):c.5234+1G>A SNV Pathogenic 447687 rs781376927 GRCh37: 6:129712799-129712799
GRCh38: 6:129391654-129391654
48 LAMA2 NM_000426.4(LAMA2):c.6196A>T (p.Lys2066Ter) SNV Pathogenic 802266 rs1583756552 GRCh37: 6:129762071-129762071
GRCh38: 6:129440926-129440926
49 LAMA2 NM_000426.4(LAMA2):c.1255del (p.Ile419fs) Deletion Pathogenic 802260 rs1185229314 GRCh37: 6:129486768-129486768
GRCh38: 6:129165623-129165623
50 LAMA2 NM_000426.3(LAMA2):c.6488del (p.Lys2163fs) Deletion Pathogenic 265332 rs886039482 GRCh37: 6:129774190-129774190
GRCh38: 6:129453045-129453045

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

72
# 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
5 LAMA2 p.Trp1311Gly VAR_081624
6 LAMA2 p.Gly2633Ala VAR_081634

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
12.74 SGCG SGCD SGCA LAMA2 LAMA1 DMD
2
Show member pathways
12.6 LAMA2 LAMA1 ITGA7 DMD DAG1 COL6A1
3
Show member pathways
12.37 LAMA2 LAMA1 ITGA7 DMD DAG1 AGRN
4
Show member pathways
12.06 POMT2 POMT1 POMGNT1 DAG1
5
Show member pathways
12.04 LAMA2 LAMA1 ITGA7 DAG1 COL6A1 AGRN
6
Show member pathways
11.88 SGCG SGCD SGCA LMNA LAMA2 LAMA1
7 11.56 UTRN DAG1 AGRN
8 11.53 UTRN LAMA2 DAG1 AGRN
9 11.46 SGCG SGCD SGCA LMNA LAMA2 LAMA1
10 11.41 LAMA2 LAMA1 ITGA7 DAG1 AGRN
11 10.92 POMT2 POMT1 POMGNT1 FKTN FKRP
12 10.9 LAMA2 DMD DAG1 AGRN

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:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.21 UTRN SGCG SGCD SGCA SELENON POMT2
2 collagen-containing extracellular matrix GO:0062023 9.8 LAMA2 LAMA1 DAG1 COL6A1 AGRN
3 filopodium GO:0030175 9.63 UTRN DMD DAG1
4 basement membrane GO:0005604 9.62 LAMA2 LAMA1 DAG1 AGRN
5 costamere GO:0043034 9.49 DMD DAG1
6 filopodium membrane GO:0031527 9.48 UTRN DMD
7 contractile ring GO:0070938 9.43 UTRN DAG1
8 dystroglycan complex GO:0016011 9.37 SGCA DAG1
9 dystrophin-associated glycoprotein complex GO:0016010 9.35 UTRN SGCD SGCA DMD DAG1
10 sarcoglycan complex GO:0016012 9.33 SGCG SGCD SGCA
11 sarcolemma GO:0042383 9.32 UTRN SGCG SGCD SGCA LAMA2 FKRP

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 protein glycosylation GO:0006486 9.77 POMT2 POMT1 POMGNT1 FKTN FKRP
2 muscle contraction GO:0006936 9.73 UTRN SGCA DYSF
3 regulation of cell migration GO:0030334 9.72 LMNA LAMA2 LAMA1
4 extracellular matrix organization GO:0030198 9.7 POMT1 LAMA2 LAMA1 ITGA7 DAG1 COL6A1
5 tissue development GO:0009888 9.65 LAMA2 LAMA1 AGRN
6 protein O-linked glycosylation GO:0006493 9.62 POMT2 POMT1 POMGNT1 FKTN
7 positive regulation of cell-matrix adhesion GO:0001954 9.61 UTRN DMD DAG1
8 cardiac muscle tissue development GO:0048738 9.6 SGCG SGCD
9 regulation of embryonic development GO:0045995 9.59 LAMA2 LAMA1
10 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.58 SELENON DMD
11 epithelial tube branching involved in lung morphogenesis GO:0060441 9.58 LAMA1 DAG1
12 skeletal muscle tissue regeneration GO:0043403 9.58 SGCA DMD DAG1
13 mannosylation GO:0097502 9.57 POMT2 POMT1
14 protein O-linked mannosylation GO:0035269 9.56 POMT2 POMT1 FKTN FKRP
15 heart contraction GO:0060047 9.54 SGCG SGCD
16 branching involved in salivary gland morphogenesis GO:0060445 9.52 LAMA1 DAG1
17 morphogenesis of an epithelial sheet GO:0002011 9.51 LAMA1 DAG1
18 Schwann cell differentiation GO:0014037 9.49 LAMA2 DAG1
19 positive regulation of protein O-linked glycosylation GO:1904100 9.46 POMT2 POMT1
20 muscle organ development GO:0007517 9.28 UTRN SGCG SGCD SGCA LMNA LAMA2
21 response to denervation involved in regulation of muscle adaptation GO:0014894 9.26 UTRN SGCA DMD DAG1

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.5 LAMA2 LAMA1 AGRN
2 mannosyltransferase activity GO:0000030 9.26 POMT2 POMT1
3 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0004169 9.16 POMT2 POMT1
4 vinculin binding GO:0017166 9.13 UTRN DMD DAG1
5 dystroglycan binding GO:0002162 8.92 FKRP DMD DAG1 AGRN

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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