MCID: CNG112
MIFTS: 32

Congenital Muscular Dystrophy Type 1a

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

Aliases & Classifications for Congenital Muscular Dystrophy Type 1a

MalaCards integrated aliases for Congenital Muscular Dystrophy Type 1a:

Name: Congenital Muscular Dystrophy Type 1a 20
Lama2-Related Muscular Dystrophy 20 43 6
Merosin-Deficient Congenital Muscular Dystrophy 20 36
Mdc1a 20 43
Muscular Dystrophy, Congenital, Merosin-Deficient 20
Muscular Dystrophy Congenital, Merosin Negative 70
Merosin-Negative Congenital Muscular Dystrophy 20
Laminin Alpha-2 Deficient Muscular Dystrophy 43
Muscular Dystrophy Due to Lama2 Deficiency 43
Merosin-Deficient Muscular Dystrophy 43
Laminin Alpha-2 Deficiency 20
Laminin Alpha 2 Deficiency 43
Lama2 Md 43

Classifications:



External Ids:

KEGG 36 H01958
UMLS 70 C1263858

Summaries for Congenital Muscular Dystrophy Type 1a

MedlinePlus Genetics : 43 LAMA2-related muscular dystrophy is a disorder that causes weakness and wasting (atrophy) of muscles used for movement (skeletal muscles). This condition varies in severity, from a severe, early-onset type to a milder, late-onset form.Early-onset LAMA2-related muscular dystrophy is apparent at birth or within the first few months of life. It is considered part of a class of muscle disorders called congenital muscular dystrophies and is sometimes called congenital muscular dystrophy type 1A. Affected infants may have severe muscle weakness, lack of muscle tone (hypotonia), little spontaneous movement, and joint deformities (contractures). Weakness of the muscles in the face and throat can result in feeding difficulties and an inability to grow and gain weight at the expected rate. Respiratory insufficiency, which occurs when muscles in the chest are weakened, causes a weak cry and breathing problems that can lead to frequent, potentially life-threatening lung infections.As affected children grow, they often develop an abnormal, gradually worsening side-to-side curvature of the spine (scoliosis) and inward curvature of the back (lordosis). Children with early-onset LAMA2-related muscular dystrophy often do not develop the ability to walk. Difficulty with speech may result from weakness of the facial muscles and an enlarged tongue. Seizures occur in about a third of individuals with early-onset LAMA2-related muscular dystrophy; rarely, heart complications occur in this form of the disorder.Symptoms of late-onset LAMA2-related muscular dystrophy become evident later in childhood or adulthood, and are similar to those of a group of muscle disorders classified as limb-girdle muscular dystrophies. In late-onset LAMA2-related muscular dystrophy, the muscles most affected are those closest to the body (proximal muscles), specifically the muscles of the shoulders, upper arms, pelvic area, and thighs. Children with late-onset LAMA2-related muscular dystrophy sometimes have delayed development of motor skills such as walking, but generally achieve the ability to walk without assistance. Over time, they may develop rigidity of the back, joint contractures, scoliosis, and breathing problems. However, most affected individuals retain the ability to walk and climb stairs.

MalaCards based summary : Congenital Muscular Dystrophy Type 1a, also known as lama2-related muscular dystrophy, is related to laminin subunit alpha 2-related muscular dystrophy and laminin subunit alpha 2-related congenital muscular dystrophy. An important gene associated with Congenital Muscular Dystrophy Type 1a is LAMA2 (Laminin Subunit Alpha 2), and among its related pathways/superpathways is ECM-receptor interaction. Affiliated tissues include skeletal muscle, eye and tongue.

GARD : 20 Congenital muscular dystrophy type 1A (MDC1A) belongs to a group of neuromuscular disorders that beings at birth or infancy and is characterized mainly by hypotonia, muscle weakness and muscle wasting. Other signs and symptoms include rigidity of the spine; scoliosis ; and delayed, limited motor development, with most individuals needing assistive devices for mobility. Respiratory problems, feeding disorders and seizures may also occur. With time, affected individuals may develop an elongated face and ophthalmoplegia disorders (paralysis or weakness in muscles of the eye). Intellectual development is typically normal. The prognosis is poor, as many affected children do not reach adolescence. It is caused by mutations in the LAMA2 gene and is inherited in an autosomal recessive manner. Treatment is generally symptomatic and includes a multidisciplinary approach.

KEGG : 36 Merosin-deficient congenital muscular dystrophy (MDC1A) is an autosomal recessive neuromuscular disorder caused by partial or total absence of laminin-2 (merosin) in the skeletal muscle. Clinical manifestations include severe weakness, hypotonia at birth, and high creatine kinase (CK) levels.

Related Diseases for Congenital Muscular Dystrophy Type 1a

Diseases in the Muscular Dystrophy family:

Muscular Dystrophy, Congenital, 1b Muscular Dystrophy, Congenital, Lmna-Related
Congenital Muscular Dystrophy Due to Dystroglycanopathy Congenital Muscular Dystrophy Type 1a
Progressive Muscular Dystrophy

Diseases related to Congenital Muscular Dystrophy Type 1a via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 laminin subunit alpha 2-related muscular dystrophy 11.4
2 laminin subunit alpha 2-related congenital muscular dystrophy 11.4
3 muscular dystrophy, congenital, lmna-related 10.7
4 muscular dystrophy 10.7
5 muscular dystrophy, congenital merosin-deficient, 1a 10.7
6 hypotonia 10.5
7 muscular dystrophy-dystroglycanopathy , type a, 4 10.4
8 walker-warburg syndrome 10.4
9 respiratory failure 10.4
10 muscle eye brain disease 10.4
11 pachygyria 10.4
12 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.4
13 polymicrogyria 10.4
14 muscular atrophy 10.4
15 lama2 muscular dystrophy 10.3
16 muscular dystrophy-dystroglycanopathy , type a, 1 10.2
17 batten-turner congenital myopathy 10.2
18 cardiomyopathy, dilated, 1b 10.2
19 myopathy, proximal, with ophthalmoplegia 10.2
20 muscular dystrophy-dystroglycanopathy , type b, 5 10.2
21 muscular dystrophy-dystroglycanopathy , type b, 1 10.2
22 metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 10.2
23 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.2
24 pontocerebellar hypoplasia 10.2
25 transient neonatal diabetes mellitus 10.2
26 cerebellar hypoplasia 10.2
27 neonatal diabetes 10.2
28 dilated cardiomyopathy 10.2
29 demyelinating polyneuropathy 10.2
30 myocarditis 10.2
31 malignant hyperthermia 10.2
32 diabetes mellitus 10.2
33 cerebral cortical dysplasia 10.2
34 canavan disease 10.2
35 lissencephaly 10.2
36 seizure disorder 10.2
37 cobblestone lissencephaly 10.2
38 muscular dystrophy, duchenne type 10.1
39 epilepsy 10.1
40 myopathy 10.1
41 collagen vi related muscular dystrophy 10.1
42 collagen vi-related myopathy 10.1
43 leigh syndrome 10.1
44 autosomal recessive disease 10.1
45 scoliosis 10.1
46 neuromuscular disease 10.1
47 peripheral nervous system disease 10.1
48 neuropathy 10.1
49 limb-girdle muscular dystrophy 10.1
50 progressive muscular dystrophy 10.1

Graphical network of the top 20 diseases related to Congenital Muscular Dystrophy Type 1a:



Diseases related to Congenital Muscular Dystrophy Type 1a

Symptoms & Phenotypes for Congenital Muscular Dystrophy Type 1a

Drugs & Therapeutics for Congenital Muscular Dystrophy Type 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 Congenital Muscular Dystrophy Type 1a

Genetic Tests for Congenital Muscular Dystrophy Type 1a

Anatomical Context for Congenital Muscular Dystrophy Type 1a

MalaCards organs/tissues related to Congenital Muscular Dystrophy Type 1a:

40
Skeletal Muscle, Eye, Tongue, Brain

Publications for Congenital Muscular Dystrophy Type 1a

Articles related to Congenital Muscular Dystrophy Type 1a:

(show top 50) (show all 96)
# Title Authors PMID Year
1
LAMA2-related myopathy: Frequency among congenital and limb-girdle muscular dystrophies. 61 6
25663498 2015
2
Segmental uniparental isodisomy of chromosome 6 causing transient diabetes mellitus and merosin-deficient congenital muscular dystrophy. 61 6
25124546 2014
3
Atypical phenotype in two patients with LAMA2 mutations. 61 6
24534542 2014
4
Next generation sequencing in the identification of a rare genetic disease from preconceptional couple screening to preimplantation genetic diagnosis. 61 6
25332755 2014
5
Merosin-deficient congenital muscular dystrophy type 1A: A case report. 61 6
24223650 2013
6
LAMA2 Muscular Dystrophy 61 6
22675738 2012
7
LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients. 61 6
18700894 2008
8
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period. 6
28688748 2017
9
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. 6
27708273 2017
10
Comprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan. 6
28182637 2017
11
Diagnosis and etiology of congenital muscular dystrophy: We are halfway there. 6
27159402 2016
12
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. 6
27854218 2016
13
Targeted Next Generation Sequencing Identifies a Novel Deletion in LAMA2 Gene in a Merosin Deficient Congenital Muscular Dystrophy Patient. 6
26104111 2016
14
Laminin α2 Deficiency-Related Muscular Dystrophy Mimicking Emery-Dreifuss and Collagen VI related Diseases. 6
27858741 2015
15
Genotype/phenotype analysis in Chinese laminin-α2 deficient congenital muscular dystrophy patients. 6
24611677 2015
16
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 6
25525159 2015
17
High creatine kinase levels and white matter changes: clinical and genetic spectrum of congenital muscular dystrophies with laminin alpha-2 deficiency. 6
24225367 2014
18
Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel. 6
23326386 2013
19
Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations. 6
20207543 2010
20
Severe MDC1A congenital muscular dystrophy due to a splicing mutation in the LAMA2 gene resulting in exon skipping and significant decrease of mRNA level. 6
17949279 2007
21
LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect. 6
16216942 2005
22
Clinical and molecular study in congenital muscular dystrophy with partial laminin alpha 2 (LAMA2) deficiency. 6
12552556 2003
23
Severe congenital muscular dystrophy in a Mexican family with a new nonsense mutation (R2578X) in the laminin alpha-2 gene. 6
12601554 2003
24
Congenital muscular dystrophy with primary partial laminin alpha2 chain deficiency: molecular study. 6
11591858 2001
25
Mild muscular dystrophy due to a nonsense mutation in the LAMA2 gene resulting in exon skipping. 6
11287370 2001
26
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
27
Mutations in the laminin alpha2-chain gene in two children with early-onset muscular dystrophy. 6
10611118 2000
28
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
29
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
30
Laminin alpha2 muscular dystrophy: genotype/phenotype studies of 22 patients. 6
9674786 1998
31
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
32
Novel compound heterozygous laminina2-chain gene (LAMA2) mutations in congenital muscular dystrophy. Mutations in brief no. 159. Online. 6
10694916 1998
33
Genetics of laminin alpha 2 chain (or merosin) deficient congenital muscular dystrophy: from identification of mutations to prenatal diagnosis. 6
9185182 1997
34
Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. 6
7550355 1995
35
Novel mutation identification and copy number variant detection via exome sequencing in congenital muscular dystrophy. 61
32936536 2020
36
LAMA2-related muscular dystrophy: Natural history of a large pediatric cohort. 61
32910545 2020
37
Circulating Biomarkers in Muscular Dystrophies: Disease and Therapy Monitoring. 61
32637452 2020
38
Cobblestone Malformation in LAMA2 Congenital Muscular Dystrophy (MDC1A). 61
32827036 2020
39
Clinical and genomic characteristics of LAMA2 related congenital muscular dystrophy in a patients' cohort from Qatar. A population specific founder variant. 61
32444167 2020
40
[Clinical features and LAMA2 mutations of patients with congenital muscular dystrophy type 1A: a case report and literature review]. 61
32571460 2020
41
Epilepsy in LAMA2-related muscular dystrophy: An electro-clinico-radiological characterization. 61
32266982 2020
42
A novel de novo variant of LAMA2 contributes to merosin deficient congenital muscular dystrophy type 1A: Case report. 61
31929873 2020
43
Hypoglycemia in patients with congenital muscle disease. 61
32028919 2020
44
Brain Dysfunction in LAMA2-Related Congenital Muscular Dystrophy: Lessons From Human Case Reports and Mouse Models. 61
32792907 2020
45
LAMA2 Neuropathies: Human Findings and Pathomechanisms From Mouse Models. 61
32390798 2020
46
Fibrogenesis in LAMA2-Related Muscular Dystrophy Is a Central Tenet of Disease Etiology. 61
32116541 2020
47
Impaired Regeneration in Dystrophic Muscle-New Target for Therapy. 61
32523512 2020
48
Recent advancements in exon-skipping therapies using antisense oligonucleotides and genome editing for the treatment of various muscular dystrophies. 61
31576784 2019
49
Pax7, Pax3 and Mamstr genes are involved in skeletal muscle impaired regeneration of dy2J/dy2J mouse model of Lama2-CMD. 61
31348492 2019
50
A mutation-independent approach for muscular dystrophy via upregulation of a modifier gene. 61
31341277 2019

Variations for Congenital Muscular Dystrophy Type 1a

ClinVar genetic disease variations for Congenital Muscular Dystrophy Type 1a:

6 (show top 50) (show all 386)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LAMA2 LAMA2, 1-BP DEL, 8314A Deletion Pathogenic 14292 GRCh37:
GRCh38:
2 LAMA2 NM_000426.3(LAMA2):c.7691T>C (p.Leu2564Pro) SNV Pathogenic 14294 rs121913570 GRCh37: 6:129802526-129802526
GRCh38: 6:129481381-129481381
3 LAMA2 LAMA2, 2-BP DEL, 2098AG Deletion Pathogenic 14295 GRCh37:
GRCh38:
4 LAMA2 NM_000426.4(LAMA2):c.7732C>T SNV Pathogenic 14296 rs121913572 GRCh37: 6:129802567-129802567
GRCh38: 6:129481422-129481422
5 LAMA2 NM_000426.3(LAMA2):c.2901C>A (p.Cys967Ter) SNV Pathogenic 14301 rs121913577 GRCh37: 6:129618874-129618874
GRCh38: 6:129297729-129297729
6 LAMA2 NM_000426.3(LAMA2):c.825del (p.Tyr276fs) Deletion Pathogenic 14302 rs1562275792 GRCh37: 6:129468109-129468109
GRCh38: 6:129146964-129146964
7 LAMA2 NM_000426.3(LAMA2):c.7750-1713_7899-2153del Deletion Pathogenic 14303 GRCh37: 6:129805906-129810893
GRCh38: 6:129484761-129489748
8 LAMA2 NM_001079823.2(LAMA2):c.1854_1861dup (p.Leu621fs) Duplication Pathogenic 38339 rs202247791 GRCh37: 6:129571327-129571328
GRCh38: 6:129250182-129250183
9 LAMA2 NM_000426.4(LAMA2):c.2461A>C (p.Thr821Pro) SNV Pathogenic 190218 rs186538779 GRCh37: 6:129601216-129601216
GRCh38: 6:129280071-129280071
10 LAMA2 NM_000426.4(LAMA2):c.3976C>T SNV Pathogenic 92956 rs398123373 GRCh37: 6:129637234-129637234
GRCh38: 6:129316089-129316089
11 LAMA2 LAMA2, IVS30, A-T, -2 SNV Pathogenic 14289 GRCh37:
GRCh38:
12 LAMA2 NM_000426.3(LAMA2):c.7147C>T (p.Arg2383Ter) SNV Pathogenic 14300 rs121913576 GRCh37: 6:129785589-129785589
GRCh38: 6:129464444-129464444
13 LAMA2 NM_000426.4(LAMA2):c.2045_2046AG[2] (p.Arg683fs) Microsatellite Pathogenic 38340 rs202247790 GRCh37: 6:129573393-129573394
GRCh38: 6:129252244-129252245
14 LAMA2 NM_000426.3(LAMA2):c.8665G>A (p.Gly2889Arg) SNV Pathogenic 266017 rs886039896 GRCh37: 6:129826462-129826462
GRCh38: 6:129505317-129505317
15 LAMA2 NM_000426.3(LAMA2):c.5116C>T (p.Arg1706Ter) SNV Pathogenic 287913 rs758775001 GRCh37: 6:129712680-129712680
GRCh38: 6:129391535-129391535
16 LAMA2 NM_000426.3(LAMA2):c.4048C>T (p.Arg1350Ter) SNV Pathogenic 284984 rs756854513 GRCh37: 6:129637306-129637306
GRCh38: 6:129316161-129316161
17 LAMA2 NM_000426.3(LAMA2):c.7452-1G>A SNV Pathogenic 437435 rs1554304931 GRCh37: 6:129799837-129799837
GRCh38: 6:129478692-129478692
18 LAMA2 NM_000426.3(LAMA2):c.397-4_478del Deletion Pathogenic 437434 rs1554217494 GRCh37: 6:129419314-129419399
GRCh38: 6:129098169-129098254
19 LAMA2 NM_000426.3(LAMA2):c.8244+1G>A SNV Pathogenic 550992 rs749522728 GRCh37: 6:129813629-129813629
GRCh38: 6:129492484-129492484
20 LAMA2 NM_000426.3(LAMA2):c.3085C>T (p.Arg1029Ter) SNV Pathogenic 551522 rs145420388 GRCh37: 6:129621928-129621928
GRCh38: 6:129300783-129300783
21 LAMA2 NM_000426.3(LAMA2):c.5156_5159del (p.Lys1719fs) Deletion Pathogenic 551648 rs1554286963 GRCh37: 6:129712717-129712720
GRCh38: 6:129391572-129391575
22 LAMA2 NM_000426.3(LAMA2):c.363C>A (p.Tyr121Ter) SNV Pathogenic 551699 rs535635043 GRCh37: 6:129381008-129381008
GRCh38: 6:129059863-129059863
23 LAMA2 NM_000426.3(LAMA2):c.1122del (p.Gly376fs) Deletion Pathogenic 552820 rs1338860420 GRCh37: 6:129475744-129475744
GRCh38: 6:129154599-129154599
24 LAMA2 NM_000426.3(LAMA2):c.3799_3821del (p.Phe1267fs) Deletion Pathogenic 280520 rs750220830 GRCh37: 6:129636968-129636990
GRCh38: 6:129315823-129315845
25 LAMA2 NM_000426.3(LAMA2):c.1303C>T (p.Arg435Ter) SNV Pathogenic 235805 rs773209126 GRCh37: 6:129486817-129486817
GRCh38: 6:129165672-129165672
26 LAMA2 NM_000426.3(LAMA2):c.2230C>T (p.Arg744Ter) SNV Pathogenic 554268 rs775676341 GRCh37: 6:129588272-129588272
GRCh38: 6:129267127-129267127
27 LAMA2 NM_000426.3(LAMA2):c.7490_7493dup (p.Asp2498fs) Duplication Pathogenic 558356 rs1480934961 GRCh37: 6:129799874-129799875
GRCh38: 6:129478729-129478730
28 LAMA2 NM_000426.3(LAMA2):c.3955C>T (p.Arg1319Ter) SNV Pathogenic 623353 rs1180309541 GRCh37: 6:129637213-129637213
GRCh38: 6:129316068-129316068
29 LAMA2 NM_000426.4(LAMA2):c.3976C>T SNV Pathogenic 92956 rs398123373 GRCh37: 6:129637234-129637234
GRCh38: 6:129316089-129316089
30 LAMA2 NM_000426.3(LAMA2):c.5116C>T (p.Arg1706Ter) SNV Pathogenic 287913 rs758775001 GRCh37: 6:129712680-129712680
GRCh38: 6:129391535-129391535
31 LAMA2 NM_000426.3(LAMA2):c.7074C>A (p.Tyr2358Ter) SNV Pathogenic 431964 rs762806915 GRCh37: 6:129785516-129785516
GRCh38: 6:129464371-129464371
32 LAMA2 NM_000426.4(LAMA2):c.7732C>T SNV Pathogenic 14296 rs121913572 GRCh37: 6:129802567-129802567
GRCh38: 6:129481422-129481422
33 LAMA2 NM_000426.3(LAMA2):c.4645C>T (p.Arg1549Ter) SNV Pathogenic 14299 rs121913575 GRCh37: 6:129674430-129674430
GRCh38: 6:129353285-129353285
34 LAMA2 NM_000426.3(LAMA2):c.3630del (p.Ile1210fs) Deletion Pathogenic 92954 rs398123372 GRCh37: 6:129636694-129636694
GRCh38: 6:129315549-129315549
35 LAMA2 NM_001079823.2(LAMA2):c.4959+1del Deletion Pathogenic 689487 rs1583591577 GRCh37: 6:129691134-129691134
GRCh38: 6:129369989-129369989
36 LAMA2 NM_000426.3(LAMA2):c.3924+2T>C SNV Pathogenic 447685 rs1554269966 GRCh37: 6:129637097-129637097
GRCh38: 6:129315952-129315952
37 LAMA2 NM_000426.3(LAMA2):c.1893_1897del (p.Asp631fs) Deletion Pathogenic 800887 rs746844753 GRCh37: 6:129573234-129573238
GRCh38: 6:129252089-129252093
38 LAMA2 NM_000426.4(LAMA2):c.3329del (p.Leu1110fs) Deletion Pathogenic 802262 rs1583470073 GRCh37: 6:129634160-129634160
GRCh38: 6:129313015-129313015
39 LAMA2 NM_000426.4(LAMA2):c.3560_3561CT[1] (p.Leu1188fs) Microsatellite Pathogenic 802263 rs1583475938 GRCh37: 6:129636625-129636626
GRCh38: 6:129315480-129315481
40 LAMA2 NM_000426.4(LAMA2):c.4739dup (p.Leu1581fs) Duplication Pathogenic 802264 rs1392196900 GRCh37: 6:129687383-129687384
GRCh38: 6:129366238-129366239
41 LAMA2 NM_000426.4(LAMA2):c.4936G>T (p.Glu1646Ter) SNV Pathogenic 802265 rs748541803 GRCh37: 6:129691112-129691112
GRCh38: 6:129369967-129369967
42 LAMA2 NM_000426.3(LAMA2):c.5234+1G>A SNV Pathogenic 447687 rs781376927 GRCh37: 6:129712799-129712799
GRCh38: 6:129391654-129391654
43 LAMA2 NM_000426.4(LAMA2):c.6196A>T (p.Lys2066Ter) SNV Pathogenic 802266 rs1583756552 GRCh37: 6:129762071-129762071
GRCh38: 6:129440926-129440926
44 LAMA2 NM_000426.4(LAMA2):c.1255del (p.Ile419fs) Deletion Pathogenic 802260 rs1185229314 GRCh37: 6:129486768-129486768
GRCh38: 6:129165623-129165623
45 LAMA2 NM_000426.3(LAMA2):c.6488del (p.Lys2163fs) Deletion Pathogenic 265332 rs886039482 GRCh37: 6:129774190-129774190
GRCh38: 6:129453045-129453045
46 LAMA2 NM_000426.4(LAMA2):c.1263del (p.Ser421_Leu422insTer) Deletion Pathogenic 984699 GRCh37: 6:129486776-129486776
GRCh38: 6:129165631-129165631
47 LAMA2 NM_000426.4(LAMA2):c.2217G>A (p.Trp739Ter) SNV Pathogenic 988020 GRCh37: 6:129588259-129588259
GRCh38: 6:129267114-129267114
48 LAMA2 NM_000426.3(LAMA2):c.7810C>T (p.Arg2604Ter) SNV Pathogenic 197987 rs766920075 GRCh37: 6:129807679-129807679
GRCh38: 6:129486534-129486534
49 LAMA2 NM_000426.4(LAMA2):c.7898+1G>A SNV Pathogenic 1028256 GRCh37: 6:129807768-129807768
GRCh38: 6:129486623-129486623
50 LAMA2 NM_000426.3(LAMA2):c.1084A>T (p.Arg362Ter) SNV Pathogenic 631971 rs191912891 GRCh37: 6:129475706-129475706
GRCh38: 6:129154561-129154561

Expression for Congenital Muscular Dystrophy Type 1a

Search GEO for disease gene expression data for Congenital Muscular Dystrophy Type 1a.

Pathways for Congenital Muscular Dystrophy Type 1a

Pathways related to Congenital Muscular Dystrophy Type 1a according to KEGG:

36
# Name Kegg Source Accession
1 ECM-receptor interaction hsa04512

GO Terms for Congenital Muscular Dystrophy Type 1a

Sources for Congenital Muscular Dystrophy Type 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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