MDC1A
MCID: MSC162
MIFTS: 61

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

Categories: Genetic diseases, Muscle diseases, Rare diseases
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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 11 19 42 73 53
Lama2-Related Muscular Dystrophy 19 42 28 5
Congenital Merosin-Deficient Muscular Dystrophy 1a 11 14
Muscular Dystrophy, Congenital Merosin-Deficient 57 12
Merosin Deficient Congenital Muscular Dystrophy 28 5
Muscular Dystrophy Congenital, Merosin Negative 43 71
Merosin-Negative Congenital Muscular Dystrophy 11 19
Atrophie Blanche 19 71
Muscular Dystrophy, Congenital, Merosin Deficient or Partially Deficient 57
Congenital Muscular Dystrophy Due to Laminin Alpha2 Deficiency 11
Merosin-Deficient Congenital Muscular Dystrophy 1a 73
Muscular Dystrophy, Congenital, Merosin-Deficient 19
Merosin-Deficient Congenital Muscular Dystrophy 19
Laminin Alpha-2 Deficient Muscular Dystrophy 42
Muscular Dystrophy White Matter Spongiosis 19
Muscular Dystrophy Due to Lama2 Deficiency 42
Congenital Muscular Dystrophy Type 1a 19
Merosin-Deficient Muscular Dystrophy 42
Cardiomyopathy, Familial Idiopathic 71
Laminin Alpha-2 Deficiency 19
Laminin Alpha 2 Deficiency 42
Lama2 Md 42
Cmd1a 11

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset at birth or early infancy
ambulation usually not achieved
partial laminin alpha-2 deficiency results in milder phenotype


Classifications:



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

MedlinePlus Genetics: 42 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: Muscular Dystrophy, Congenital Merosin-Deficient, 1a, also known as mdc1a, is related to cardiomyopathy, dilated, 1g and muscular dystrophy-dystroglycanopathy , type a, 1. An important gene associated with Muscular Dystrophy, Congenital Merosin-Deficient, 1a is LAMA2 (Laminin Subunit Alpha 2), and among its related pathways/superpathways are Extracellular matrix organization and Diseases of glycosylation. Affiliated tissues include tongue, lung and brain, and related phenotypes are intellectual disability and ophthalmoplegia

GARD: 19 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. It is caused by genetic changes in the LAMA2 gene and is inherited in an autosomal recessive manner.

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 08-Dec-2022)

Disease Ontology: 11 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: 73 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 186)
# Related Disease Score Top Affiliating Genes
1 cardiomyopathy, dilated, 1g 31.1 SGCG SGCD SGCA POMT1 LMNA DYSF
2 muscular dystrophy-dystroglycanopathy , type a, 1 31.0 POMT2 POMT1 FKTN FKRP
3 muscular dystrophy, limb-girdle, autosomal recessive 23 30.9 LOC123864065 LAMA2
4 cdags syndrome 30.8 FKTN FKRP
5 polymicrogyria 30.7 POMT2 POMT1 POMGNT1 FKTN
6 muscular dystrophy, congenital, 1b 30.6 LAMA2 ITGA7 FKTN FKRP DAG1
7 muscular dystrophy, congenital, lmna-related 30.6 SELENON POMT2 POMT1 POMGNT1 LMNA LAMA2
8 malignant hyperthermia 30.5 SELENON LAMA2 DYSF DMD
9 pontocerebellar hypoplasia 30.4 POMT2 POMT1 POMGNT1 FKTN FKRP
10 cobblestone lissencephaly 30.4 POMT2 POMT1 POMGNT1 FKTN FKRP DAG1
11 lissencephaly 30.4 POMT2 POMT1 POMGNT1 FKTN FKRP DAG1
12 muscular dystrophy-dystroglycanopathy , type b, 5 30.3 POMT2 POMT1 POMGNT1 LAMA2 FKTN FKRP
13 batten-turner congenital myopathy 30.3 SELENON LAMA2 ITGA7 DYSF DMD
14 muscle eye brain disease 30.2 SGCA POMT2 POMT1 POMGNT1 LAMA2 FKTN
15 muscular dystrophy-dystroglycanopathy , type b, 1 29.9 POMT2 POMT1 POMGNT1 LAMA2 FKTN FKRP
16 muscular dystrophy, duchenne type 29.8 UTRN SGCD SGCA LAMA2 ITGA7 FKTN
17 muscular dystrophy-dystroglycanopathy , type a, 4 29.7 SGCA POMT2 POMT1 POMGNT1 LAMA2 ITGA7
18 rigid spine muscular dystrophy 1 29.4 SGCA SELENON POMT2 POMT1 POMGNT1 LMNA
19 dilated cardiomyopathy 29.2 UTRN SGCG SGCD SGCA LMNA LAMA2
20 neuromuscular disease 29.0 UTRN SGCG SGCD SGCA SELENON LMNA
21 limb-girdle muscular dystrophy 28.9 UTRN SGCG SGCD SGCA POMT2 POMT1
22 autosomal recessive limb-girdle muscular dystrophy 28.8 UTRN SGCG SGCD SGCA SELENON POMT2
23 muscular dystrophy 28.8 UTRN SGCG SGCD SGCA SELENON POMT2
24 myopathy 28.8 UTRN SGCG SGCD SGCA SELENON POMT2
25 walker-warburg syndrome 28.8 UTRN SGCG SGCD SGCA SELENON POMT2
26 livedoid vasculitis 11.7
27 laminin subunit alpha 2-related muscular dystrophy 11.5
28 cardiomyopathy, dilated, 1a 11.2
29 laminin subunit alpha 2-related congenital muscular dystrophy 11.0
30 cardiomyopathy, dilated, 1l 11.0
31 cardiomyopathy, dilated, 1bb 11.0
32 vasculitis 10.7
33 venous insufficiency 10.5
34 chronic venous insufficiency 10.4
35 congenital muscular dystrophy-dystroglycanopathy type a10 10.3 SELENON LAMA2
36 nephrotic syndrome, type 5, with or without ocular abnormalities 10.3 LAMA2 AGRN
37 systemic lupus erythematosus 10.3
38 raynaud disease 10.3
39 systemic lupus erythematosus 1 10.3
40 vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome 10.3
41 lupus erythematosus 10.3
42 polyarteritis nodosa 10.3
43 lipodermatosclerosis 10.3
44 epilepsy 10.3
45 congenital muscular dystrophy without intellectual disability 10.3 POMT1 FKTN FKRP
46 congenital muscular dystrophy-dystroglycanopathy a14 10.3 SELENON LAMA2 DAG1
47 cardiomyopathy, dilated, 1x 10.3 FKTN DAG1
48 muscular dystrophy-dystroglycanopathy , type c, 9 10.3 SGCA DAG1
49 limb-girdle muscular dystrophy type 1a 10.3 FKRP DYSF
50 congenital muscular dystrophy-dystroglycanopathy type a12 10.3 SELENON POMT1 FKRP

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:

30 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 30 Occasional (7.5%) HP:0001249
2 ophthalmoplegia 30 Occasional (7.5%) HP:0000602
3 seizure 30 Very rare (1%) HP:0001250
4 hypotonia 30 Very rare (1%) HP:0001252
5 muscle weakness 30 Very rare (1%) HP:0001324
6 flexion contracture 30 Very rare (1%) HP:0001371
7 elevated circulating creatine kinase concentration 30 Very rare (1%) HP:0003236
8 motor delay 30 Very rare (1%) HP:0001270
9 kyphoscoliosis 30 Very rare (1%) HP:0002751
10 feeding difficulties in infancy 30 HP:0008872
11 respiratory insufficiency due to muscle weakness 30 HP:0002747
12 areflexia 30 HP:0001284
13 abnormal cortical gyration 30 HP:0002536
14 congenital muscular dystrophy 30 HP:0003741
15 increased endomysial connective tissue 30 HP:0100297
16 hypointensity of cerebral white matter on mri 30 HP:0007103

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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
Neurologic Central Nervous System:
abnormal cortical gyration
seizures (rare)
mental retardation (rare)
white matter hypodensities seen on mri

Skeletal Limbs:
joint contractures

Laboratory Abnormalities:
increased creatine kinase

Abdomen Gastrointestinal:
feeding difficulties

Head And Neck Eyes:
ophthalmoplegia (in some patients)

Skeletal Spine:
kyphoscoliosis (in some patients)

Respiratory:
respiratory muscle weakness

Clinical features from OMIM®:

607855 (Updated 08-Dec-2022)

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 10.39 AGRN COL6A1 DAG1 DMD DYSF FKRP
2 homeostasis/metabolism MP:0005376 10.36 AGRN COL6A1 DAG1 DMD DYSF FKRP
3 nervous system MP:0003631 10.29 AGRN DAG1 DMD FKRP FKTN ITGA7
4 growth/size/body region MP:0005378 10.28 AGRN COL6A1 DAG1 DMD FKRP FKTN
5 cellular MP:0005384 10.21 DAG1 DMD DYSF FKRP FKTN ITGA7
6 behavior/neurological MP:0005386 10.21 AGRN COL6A1 DAG1 DMD DYSF FKRP
7 cardiovascular system MP:0005385 10.13 AGRN DAG1 DMD FKRP ITGA7 LAMA1
8 respiratory system MP:0005388 9.76 AGRN DMD LAMA2 LMNA SELENON SGCA
9 skeleton MP:0005390 9.61 COL6A1 DMD FKRP ITGA7 LAMA2 LMNA
10 mortality/aging MP:0010768 9.5 AGRN DAG1 DMD FKRP FKTN ITGA7

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-Congenital Muscular Dystrophy Completed NCT04299321
2 Fedt og Sukkerstofskiftet Under Faste Hos Patienter Med Lav Muskelmasse. Completed NCT03970135
3 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
4 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 Lama2-Related Muscular Dystrophy 28
2 Merosin Deficient Congenital Muscular Dystrophy 28 LAMA2

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

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

MalaCards : Tongue, Lung, Brain, Eye, Heart, Skeletal Muscle, Spinal Cord
ODiseA: Skeletal Muscle

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

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

(show top 50) (show all 447)
# Title Authors PMID Year
1
LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients. 53 62 57 5
18700894 2008
2
LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypes. 62 57 5
30055037 2018
3
Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. 62 57 5
7550355 1995
4
Genotype/phenotype analysis in Chinese laminin-α2 deficient congenital muscular dystrophy patients. 57 5
24611677 2015
5
LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect. 57 5
16216942 2005
6
Clinical and molecular study in congenital muscular dystrophy with partial laminin alpha 2 (LAMA2) deficiency. 57 5
12552556 2003
7
A novel laminin alpha2 isoform in severe laminin alpha2 deficient congenital muscular dystrophy. 57 5
11071490 2000
8
Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations. 53 62 5
20207543 2010
9
Ku70 regulates Bax-mediated pathogenesis in laminin-alpha2-deficient human muscle cells and mouse models of congenital muscular dystrophy. 53 62 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. 53 62 5
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? 53 62 57
16487936 2006
12
Novel mutations in LAMA2 gene responsible for a severe phenotype of congenital muscular dystrophy in two Tunisian families. 53 62 5
19388593 2006
13
Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for alpha2 chain of laminin). 53 62 5
11938437 2002
14
Epilepsy in LAMA2-related muscular dystrophy: An electro-clinico-radiological characterization. 62 5
32266982 2020
15
A mutation-independent approach for muscular dystrophy via upregulation of a modifier gene. 62 57
31341277 2019
16
Novel LAMA2 Gene Mutations Associated with Merosin-Deficient Congenital Muscular Dystrophy 62 5
29707938 2018
17
LAMA2 Congenital Muscle Dystrophy: A Novel Pathogenic Mutation in Bulgarian Patient. 62 5
30147969 2018
18
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period. 62 5
28688748 2017
19
Novel Mutation (c.8725T>C) in Two Siblings With Late-Onset LAMA2-Related Muscular Dystrophy. 62 5
28445022 2017
20
Targeted Next Generation Sequencing Identifies a Novel Deletion in LAMA2 Gene in a Merosin Deficient Congenital Muscular Dystrophy Patient. 62 5
26104111 2016
21
LAMA2-related myopathy: Frequency among congenital and limb-girdle muscular dystrophies. 62 5
25663498 2015
22
Segmental uniparental isodisomy of chromosome 6 causing transient diabetes mellitus and merosin-deficient congenital muscular dystrophy. 62 5
25124546 2014
23
High creatine kinase levels and white matter changes: clinical and genetic spectrum of congenital muscular dystrophies with laminin alpha-2 deficiency. 62 5
24225367 2014
24
Atypical phenotype in two patients with LAMA2 mutations. 62 5
24534542 2014
25
Reviewing Large LAMA2 Deletions and Duplications in Congenital Muscular Dystrophy Patients. 62 5
27858771 2014
26
Next generation sequencing in the identification of a rare genetic disease from preconceptional couple screening to preimplantation genetic diagnosis. 62 5
25332755 2014
27
Merosin-deficient congenital muscular dystrophy type 1A: A case report. 62 5
24223650 2013
28
LAMA2 Muscular Dystrophy 62 5
22675738 2012
29
Clinical and pathological heterogeneity in late-onset partial merosin deficiency. 62 5
21922472 2011
30
Pathology is alleviated by doxycycline in a laminin-alpha2-null model of congenital muscular dystrophy. 62 57
19086074 2009
31
Genetically confirmed patients with merosin-deficient congenital muscular dystrophy in China. 62 5
19294599 2008
32
Is there selection in favour of heterozygotes in families with merosin-deficient congenital muscular dystrophy? 62 57
10543397 1999
33
Merosin-deficient congenital muscular dystrophy: the spectrum of brain involvement on magnetic resonance imaging. 62 57
10220862 1999
34
Merosin-deficient congenital muscular dystrophy associated with abnormal cerebral cortical gyration: an autopsy study. 62 57
10220863 1999
35
Laminin alpha 2-chain gene mutations in two siblings presenting with limb-girdle muscular dystrophy. 62 5
9829280 1998
36
Merosin-deficient congenital muscular dystrophy. Partial genetic correction in two mouse models. 62 57
9710454 1998
37
PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy. 62 5
9541105 1998
38
Genetics of laminin alpha 2 chain (or merosin) deficient congenital muscular dystrophy: from identification of mutations to prenatal diagnosis. 62 5
9185182 1997
39
The role of immunocytochemistry and linkage analysis in the prenatal diagnosis of merosin-deficient congenital muscular dystrophy. 62 57
9099847 1997
40
Merosin-negative congenital muscular dystrophy associated with extensive brain abnormalities. 62 57
7501163 1995
41
Demyelinating peripheral neuropathy in merosin-deficient congenital muscular dystrophy. 62 57
8576559 1995
42
Deficiency of laminin alpha 2-chain mRNA in muscle in a patient with merosin-negative congenital muscular dystrophy. 62 57
7643867 1995
43
Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping. 62 57
7833925 1994
44
Limb girdle muscular dystrophy due to LAMA2 gene mutations: new mutations expand the clinical spectrum of a still challenging diagnosis. 5
32904964 2020
45
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease. 5
30827497 2019
46
Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases. 5
30293248 2018
47
Deletion of exon 4 in LAMA2 is the most frequent mutation in Chinese patients with laminin α2-related muscular dystrophy. 5
30301903 2018
48
COL6A and LAMA2 Mutation Congenital Muscular Dystrophy: A Clinical and Electrophysiological Study. 5
29465610 2018
49
Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic. 5
27447704 2017
50
Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population. 5
27234031 2017

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

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

5 (show top 50) (show all 2738)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LAMA2 NM_000426.4(LAMA2):c.7691T>C (p.Leu2564Pro) SNV Pathogenic
14294 rs121913570 GRCh37: 6:129802526-129802526
GRCh38: 6:129481381-129481381
2 LAMA2 NM_000426.4(LAMA2):c.825del (p.Tyr276fs) DEL Pathogenic
14302 rs1562275792 GRCh37: 6:129468109-129468109
GRCh38: 6:129146964-129146964
3 LAMA2 NM_000426.4(LAMA2):c.7750-1713_7899-2153del DEL Pathogenic
14303 GRCh37: 6:129805906-129810893
GRCh38: 6:129484761-129489748
4 LAMA2 NC_000006.12:g.(?_129287827)_(129288078_?)del DEL Pathogenic
477433 GRCh37:
GRCh38: 6:129287827-129288078
5 LAMA2 NC_000006.12:g.(?_129486474)_(129486622_?)del DEL Pathogenic
477435 GRCh37:
GRCh38: 6:129486474-129486622
6 LAMA2 NM_000426.4(LAMA2):c.7156-5_7157delinsT INDEL Pathogenic
477503 rs1554301854 GRCh37: 6:129786285-129786291
GRCh38: 6:129465140-129465146
7 LAMA2 NM_000426.4(LAMA2):c.5071+3104del DEL Pathogenic
477481 rs1554285766 GRCh37: 6:129707482-129707482
GRCh38: 6:129386337-129386337
8 LAMA2 NC_000006.12:g.(?_129516170)_(129516367_?)del DEL Pathogenic
543885 GRCh37: 6:129837315-129837512
GRCh38: 6:129516170-129516367
9 LAMA2 and overlap with 1 gene(s) NC_000006.12:g.(?_128883226)_(129516367_?)del DEL Pathogenic
543886 GRCh37: 6:129204371-129837512
GRCh38: 6:128883226-129516367
10 LAMA2 NC_000006.12:g.(?_129349278)_(129403979_?)del DEL Pathogenic
543887 GRCh37: 6:129670423-129725124
GRCh38: 6:129349278-129403979
11 LAMA2 NM_000426.4(LAMA2):c.5156_5159del (p.Lys1719fs) DEL Pathogenic
551648 rs1554286963 GRCh37: 6:129712717-129712720
GRCh38: 6:129391572-129391575
12 LAMA2 NM_000426.4(LAMA2):c.1122del (p.Gly376fs) DEL Pathogenic
552820 rs1338860420 GRCh37: 6:129475744-129475744
GRCh38: 6:129154599-129154599
13 LAMA2 NM_000426.4(LAMA2):c.7490_7493dup (p.Asp2498fs) DUP Pathogenic
558356 rs1480934961 GRCh37: 6:129799874-129799875
GRCh38: 6:129478729-129478730
14 LAMA2 NM_000426.4(LAMA2):c.2560C>T (p.Gln854Ter) SNV Pathogenic
661592 rs1583421520 GRCh37: 6:129609014-129609014
GRCh38: 6:129287869-129287869
15 LAMA2 NM_000426.4(LAMA2):c.4959+1del DEL Pathogenic
689487 rs1583591577 GRCh37: 6:129691134-129691134
GRCh38: 6:129369989-129369989
16 LAMA2 NM_000426.4(LAMA2):c.3329del (p.Leu1110fs) DEL Pathogenic
802262 rs1583470073 GRCh37: 6:129634160-129634160
GRCh38: 6:129313015-129313015
17 LAMA2 NM_000426.4(LAMA2):c.3562_3563del (p.Leu1188fs) MICROSAT Pathogenic
802263 rs1583475938 GRCh37: 6:129636625-129636626
GRCh38: 6:129315480-129315481
18 LAMA2 NM_000426.4(LAMA2):c.4739dup (p.Leu1581fs) DUP Pathogenic
Pathogenic
802264 rs1392196900 GRCh37: 6:129687383-129687384
GRCh38: 6:129366238-129366239
19 LAMA2 NM_000426.4(LAMA2):c.4936G>T (p.Glu1646Ter) SNV Pathogenic
802265 rs748541803 GRCh37: 6:129691112-129691112
GRCh38: 6:129369967-129369967
20 LOC123864065, LAMA2 NM_000426.4(LAMA2):c.6196A>T (p.Lys2066Ter) SNV Pathogenic
802266 rs1583756552 GRCh37: 6:129762071-129762071
GRCh38: 6:129440926-129440926
21 LAMA2 NM_000426.4(LAMA2):c.1893_1897del (p.Asp631fs) DEL Pathogenic
Pathogenic
800887 rs746844753 GRCh37: 6:129573234-129573238
GRCh38: 6:129252089-129252093
22 LAMA2 NC_000006.12:g.(?_128883236)_(128883367_?)del DEL Pathogenic
830836 GRCh37: 6:129204381-129204512
GRCh38:
23 LAMA2 NC_000006.12:g.(?_129486464)_(129486632_?)del DEL Pathogenic
831646 GRCh37: 6:129807609-129807777
GRCh38:
24 LAMA2 NM_000426.4(LAMA2):c.9222del (p.Lys3074fs) DEL Pathogenic
941014 rs1787058325 GRCh37: 6:129837345-129837345
GRCh38: 6:129516200-129516200
25 LAMA2 NM_000426.4(LAMA2):c.3449_3453del (p.Pro1150fs) DEL Pathogenic
864296 rs1774464446 GRCh37: 6:129635834-129635838
GRCh38: 6:129314689-129314693
26 LAMA2 NM_000426.4(LAMA2):c.7827_7848del (p.Val2610fs) DEL Pathogenic
950741 rs1784594432 GRCh37: 6:129807693-129807714
GRCh38: 6:129486548-129486569
27 LAMA2 NM_000426.4(LAMA2):c.2043delinsCT (p.Leu681fs) INDEL Pathogenic
965640 rs1786309735 GRCh37: 6:129573387-129573387
GRCh38: 6:129252242-129252242
28 LAMA2 NM_000426.4(LAMA2):c.7630del (p.Ile2544fs) DEL Pathogenic
996550 rs1784335277 GRCh37: 6:129802464-129802464
GRCh38: 6:129481319-129481319
29 LAMA2 NM_000426.4(LAMA2):c.3186C>A (p.Cys1062Ter) SNV Pathogenic
1031567 rs1774316033 GRCh37: 6:129634017-129634017
GRCh38: 6:129312872-129312872
30 LAMA2 NM_000426.4(LAMA2):c.8692del (p.Arg2898fs) DEL Pathogenic
842717 rs1785973861 GRCh37: 6:129826488-129826488
GRCh38: 6:129505343-129505343
31 LAMA2 NM_000426.4(LAMA2):c.1263del (p.Ser421_Leu422insTer) DEL Pathogenic
984699 rs1779702214 GRCh37: 6:129486776-129486776
GRCh38: 6:129165631-129165631
32 LAMA2 NM_000426.4(LAMA2):c.2217G>A (p.Trp739Ter) SNV Pathogenic
988020 rs192317605 GRCh37: 6:129588259-129588259
GRCh38: 6:129267114-129267114
33 LAMA2 NM_000426.4(LAMA2):c.7898+1G>A SNV Pathogenic
1028256 rs1784599832 GRCh37: 6:129807768-129807768
GRCh38: 6:129486623-129486623
34 LAMA2 NM_000426.4(LAMA2):c.7778del (p.Gly2593fs) DEL Pathogenic
1236199 GRCh37: 6:129807644-129807644
GRCh38: 6:129486499-129486499
35 LAMA2 NM_000426.4(LAMA2):c.8380_8383del (p.Arg2794fs) DEL Pathogenic
1236200 GRCh37: 6:129824257-129824260
GRCh38: 6:129503112-129503115
36 LAMA2 NM_000426.4(LAMA2):c.3938del (p.Tyr1313fs) DEL Pathogenic
1299245 GRCh37: 6:129637196-129637196
GRCh38: 6:129316051-129316051
37 LAMA2 NM_000426.4(LAMA2):c.4058+1G>A SNV Pathogenic
1299246 GRCh37: 6:129637317-129637317
GRCh38: 6:129316172-129316172
38 LAMA2 NC_000006.11:g.(?_129204381)_(129837502_?)del DEL Pathogenic
1075509 GRCh37: 6:129204381-129837502
GRCh38:
39 LAMA2 NC_000006.11:g.(?_129712616)_(129712818_?)del DEL Pathogenic
1075510 GRCh37: 6:129712616-129712818
GRCh38:
40 LAMA2 NM_000426.4(LAMA2):c.908dup (p.Asn303fs) DUP Pathogenic
1173099 GRCh37: 6:129468189-129468190
GRCh38: 6:129147044-129147045
41 LAMA2 NM_000426.4(LAMA2):c.1282_1283dup (p.Asp429fs) DUP Pathogenic
1332702 GRCh37: 6:129486795-129486796
GRCh38: 6:129165650-129165651
42 LAMA2 NM_000426.4(LAMA2):c.2962C>T (p.Gln988Ter) SNV Pathogenic
Likely Pathogenic
92950 rs398123371 GRCh37: 6:129618935-129618935
GRCh38: 6:129297790-129297790
43 LAMA2 NM_000426.4(LAMA2):c.5706_5712del (p.Asp1902fs) DEL Pathogenic
Likely Pathogenic
92970 rs398123377 GRCh37: 6:129723612-129723618
GRCh38: 6:129402467-129402473
44 LAMA2 NM_000426.4(LAMA2):c.498G>A (p.Trp166Ter) SNV Pathogenic
Likely Pathogenic
551094 rs553221833 GRCh37: 6:129419419-129419419
GRCh38: 6:129098274-129098274
45 LAMA2 NM_000426.4(LAMA2):c.951_952insCT (p.Cys318fs) INSERT Pathogenic
Likely Pathogenic
552966 rs1554227092 GRCh37: 6:129470165-129470166
GRCh38: 6:129149020-129149021
46 LAMA2 NM_000426.4(LAMA2):c.6820del (p.Asp2274fs) DEL Pathogenic
632471 rs1562581261 GRCh37: 6:129777591-129777591
GRCh38: 6:129456446-129456446
47 LAMA2 NM_000426.4(LAMA2):c.6062dup (p.Leu2023fs) DUP Pathogenic
432426 rs1554297242 GRCh37: 6:129759881-129759882
GRCh38: 6:129438736-129438737
48 LAMA2 NM_000426.4(LAMA2):c.3979_3985dup (p.Phe1329Ter) DUP Pathogenic
284319 rs886042847 GRCh37: 6:129637236-129637237
GRCh38: 6:129316091-129316092
49 LAMA2 NM_000426.4(LAMA2):c.7966G>T (p.Glu2656Ter) SNV Pathogenic
1372274 GRCh37: 6:129813113-129813113
GRCh38: 6:129491968-129491968
50 LAMA2 NM_000426.4(LAMA2):c.8378_8381del (p.Val2793fs) DEL Pathogenic
1369140 GRCh37: 6:129824253-129824256
GRCh38: 6:129503108-129503111

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

73
# 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 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.59 AGRN COL6A1 DAG1 DMD ITGA7 LAMA1
2
Show member pathways
12.56 POMT2 POMT1 POMGNT1 DAG1 AGRN
3
Show member pathways
12.26 LAMA2 LAMA1 ITGA7 COL6A1
4
Show member pathways
12.23 SGCG SGCD SGCA LMNA LAMA2 ITGA7
5
Show member pathways
12.22 POMT2 POMT1 POMGNT1 DAG1
6
Show member pathways
12.02 LAMA2 LAMA1 ITGA7 DMD DAG1 AGRN
7
Show member pathways
11.96 POMT2 POMT1 POMGNT1 DAG1
8
Show member pathways
11.96 LAMA2 LAMA1 ITGA7 DAG1 COL6A1 AGRN
9
Show member pathways
11.9 LAMA1 DAG1 AGRN
10 11.56 UTRN DAG1 AGRN
11 11.49 UTRN LAMA2 DAG1 AGRN
12
Show member pathways
11.13 POMT2 POMT1 POMGNT1
13 11.08 UTRN LAMA2 DAG1
14 10.98 SGCG SGCD SGCA LAMA2 DMD DAG1
15 10.74 LAMA2 DMD DAG1 AGRN
16
Show member pathways
10.49 FKTN FKRP
17
Show member pathways
10.32 POMT2 POMT1 DAG1

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 10.93 AGRN DAG1 DYSF FKRP FKTN ITGA7
2 membrane GO:0016021 10.93 AGRN DAG1 DYSF FKRP FKTN ITGA7
3 collagen-containing extracellular matrix GO:0062023 10.18 LAMA2 LAMA1 DAG1 COL6A1 AGRN
4 basement membrane GO:0005604 9.92 LAMA2 LAMA1 DAG1 AGRN
5 dystrophin-associated glycoprotein complex GO:0016010 9.85 DAG1 DMD SGCA SGCD UTRN
6 protein complex involved in cell-matrix adhesion GO:0098637 9.76 LAMA2 LAMA1
7 sarcoglycan complex GO:0016012 9.73 SGCG SGCD SGCA
8 contractile ring GO:0070938 9.71 UTRN DAG1
9 sarcolemma GO:0042383 9.62 UTRN SGCG SGCD SGCA LAMA2 FKRP
10 plasma membrane bounded cell projection GO:0120025 9.37 UTRN DMD
11 dystroglycan complex GO:0016011 9.35 SGCG SGCD SGCA DAG1

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 tissue development GO:0009888 9.93 LAMA2 LAMA1 AGRN
2 protein O-linked glycosylation GO:0006493 9.87 FKTN POMGNT1 POMT1 POMT2
3 protein glycosylation GO:0006486 9.85 POMT2 POMT1 POMGNT1 FKTN FKRP
4 branching involved in salivary gland morphogenesis GO:0060445 9.81 LAMA1 DAG1
5 morphogenesis of an epithelial sheet GO:0002011 9.8 LAMA1 DAG1
6 positive regulation of cell-matrix adhesion GO:0001954 9.8 UTRN DMD DAG1
7 regulation of basement membrane organization GO:0110011 9.78 LAMA2 LAMA1
8 positive regulation of protein O-linked glycosylation GO:1904100 9.73 POMT2 POMT1
9 response to denervation involved in regulation of muscle adaptation GO:0014894 9.65 SGCA DMD DAG1
10 skeletal muscle tissue regeneration GO:0043403 9.63 SGCA SELENON DMD DAG1
11 protein O-linked mannosylation GO:0035269 9.56 POMT2 POMT1 FKTN FKRP
12 muscle organ development GO:0007517 9.55 UTRN SGCG SGCD SGCA LMNA LAMA2

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

# Name GO ID Score Top Affiliating Genes
1 laminin binding GO:0043236 9.63 ITGA7 DAG1 AGRN
2 phosphotransferase activity, for other substituted phosphate groups GO:0016780 9.62 FKTN FKRP
3 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0004169 9.56 POMT2 POMT1
4 vinculin binding GO:0017166 9.43 UTRN DMD DAG1
5 dystroglycan binding GO:0002162 9.23 FKRP DMD DAG1 AGRN

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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