MCID: LMN012
MIFTS: 30

Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy

Categories: Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy

MalaCards integrated aliases for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy:

Name: Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy 58
Congenital Muscular Dystrophy Due to Laminin Alpha2 Deficiency 58
Merosin-Negative Congenital Muscular Dystrophy 58
Congenital Muscular Dystrophy Type 1a 58
Cmd1a 58
Mdc1a 58

Characteristics:

Orphanet epidemiological data:

58
laminin subunit alpha 2-related congenital muscular dystrophy
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Neonatal; Age of death: adolescent,late childhood;

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 33 G71.2
UMLS via Orphanet 72 C1263858
Orphanet 58 ORPHA258

Summaries for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy

MalaCards based summary : Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy, also known as congenital muscular dystrophy due to laminin alpha2 deficiency, is related to lama2-related muscular dystrophy and cardiomyopathy, dilated, 1a. An important gene associated with Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy is LAMA2 (Laminin Subunit Alpha 2). Affiliated tissues include brain, tongue and skeletal muscle, and related phenotypes are intellectual disability and seizures

Related Diseases for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy

Graphical network of the top 20 diseases related to Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy:



Diseases related to Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy

Symptoms & Phenotypes for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy

Human phenotypes related to Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy:

58 (show top 50) (show all 54)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 Frequent (79-30%)
2 seizures 58 Frequent (79-30%)
3 scoliosis 58 Occasional (29-5%)
4 dysphagia 58 Occasional (29-5%)
5 facial palsy 58 Frequent (79-30%)
6 muscular hypotonia 58 Very frequent (99-80%)
7 muscle weakness 58 Very frequent (99-80%)
8 respiratory insufficiency 58 Very rare (<4-1%)
9 hyperlordosis 58 Occasional (29-5%)
10 macroglossia 58 Frequent (79-30%)
11 neonatal hypotonia 58 Occasional (29-5%)
12 abnormality of visual evoked potentials 58 Occasional (29-5%)
13 flexion contracture 58 Frequent (79-30%)
14 gastroesophageal reflux 58 Very frequent (99-80%)
15 cognitive impairment 58 Occasional (29-5%)
16 abnormality of metabolism/homeostasis 58 Very frequent (99-80%)
17 emg abnormality 58 Frequent (79-30%)
18 arrhythmia 58 Occasional (29-5%)
19 pulmonary arterial hypertension 58 Very rare (<4-1%)
20 open mouth 58 Occasional (29-5%)
21 myositis 58 Very frequent (99-80%)
22 cardiomyopathy 58 Occasional (29-5%)
23 inability to walk 58 Very frequent (99-80%)
24 reduced tendon reflexes 58 Occasional (29-5%)
25 motor delay 58 Very frequent (99-80%)
26 absence seizure 58 Occasional (29-5%)
27 respiratory failure 58 Very frequent (99-80%)
28 focal-onset seizure 58 Occasional (29-5%)
29 protruding tongue 58 Occasional (29-5%)
30 atelectasis 58 Occasional (29-5%)
31 weak cry 58 Very frequent (99-80%)
32 decreased body weight 58 Occasional (29-5%)
33 pachygyria 58 Occasional (29-5%)
34 hypokinesia 58 Very frequent (99-80%)
35 muscular dystrophy 58 Very frequent (99-80%)
36 congenital muscular dystrophy 58 Very frequent (99-80%)
37 increased connective tissue 58 Very frequent (99-80%)
38 absent muscle fiber merosin 58 Very frequent (99-80%)
39 highly elevated creatine phosphokinase 58 Very frequent (99-80%)
40 muscle fiber atrophy 58 Very frequent (99-80%)
41 cerebral edema 58 Frequent (79-30%)
42 astrocytosis 58 Frequent (79-30%)
43 recurrent lower respiratory tract infections 58 Frequent (79-30%)
44 aspiration 58 Frequent (79-30%)
45 impaired mastication 58 Frequent (79-30%)
46 abnormality of the temporomandibular joint 58 Frequent (79-30%)
47 abnormal brainstem mri signal intensity 58 Frequent (79-30%)
48 lissencephaly 58 Occasional (29-5%)
49 myopathic facies 58 Occasional (29-5%)
50 hypoventilation 58 Occasional (29-5%)

Drugs & Therapeutics for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A LAMA2-related Muscular Dystrophy Study: Brain Magnetic Resonance Imaging (MRI)and Brain Electrophysiology Evaluation Withdrawn NCT01952028

Search NIH Clinical Center for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy

Genetic Tests for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy

Anatomical Context for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy

MalaCards organs/tissues related to Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy:

40
Brain, Tongue, Skeletal Muscle, Skin

Publications for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy

Articles related to Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy:

(show all 33)
# Title Authors PMID Year
1
LAMA2-Related Muscular Dystrophy 6
22675738 2012
2
Cartilage-Hair Hypoplasia – Anauxetic Dysplasia Spectrum Disorders 6
22420014 2012
3
Consensus statement on standard of care for congenital muscular dystrophies. 6
21078917 2010
4
LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients. 6
18700894 2008
5
LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect. 6
16216942 2005
6
Severe congenital muscular dystrophy in a Mexican family with a new nonsense mutation (R2578X) in the laminin alpha-2 gene. 6
12601554 2003
7
Congenital muscular dystrophy with primary partial laminin alpha2 chain deficiency: molecular study. 6
11591858 2001
8
Congenital Muscular Dystrophy Overview 6
20301468 2001
9
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
10
Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. 6
7550355 1995
11
Merosin-negative congenital muscular dystrophy: Report of five cases. 61
26962340 2015
12
Evaluation of one hundred pediatric muscle biopsies during a 2-year period in mofid children and toos hospitals. 61
24665292 2013
13
Merosin-deficient congenital muscular dystrophy type 1A. 61
18516331 2008
14
Brain MRI features of merosin-negative congenital muscular dystrophy. 61
17991069 2007
15
Merosin-negative congenital muscular dystrophy: diffusion-weighted imaging findings of brain. 61
17690079 2007
16
Merosin-negative congenital muscular dystrophy: magnetic resonance spectroscopy findings. 61
15862197 2005
17
Merosin-deficient congenital muscular dystrophy in two siblings. 61
15591603 2004
18
Merosin negative congenital muscular dystrophy: a short report. 61
14652462 2003
19
Human melanoma/NG2 chondroitin sulfate proteoglycan is expressed in the sarcolemma of postnatal human skeletal myofibers. Abnormal expression in merosin-negative and Duchenne muscular dystrophies. 61
12812755 2003
20
Congenital muscular dystrophy in Israeli families. 61
12150578 2002
21
Nonmuscular involvement in merosin-negative congenital muscular dystrophy. 61
11814732 2002
22
A case of merosin-negative congenital muscular dystrophy with extensive white matter abnormalities and electroencephalographic changes in a Syrian boy. 61
12184464 2001
23
Expression of laminin alpha1, alpha2, alpha4, and alpha5 chains, fibronectin, and tenascin-C in skeletal muscle of dystrophic 129ReJ dy/dy mice. 61
9882526 1999
24
Congenital muscular dystrophy, white-matter abnormalities, and neuronal migration disorders: the expanding concept. 61
9796753 1998
25
Immunohistochemical study of merosin-negative congenital muscular dystrophy: laminin alpha 2 deficiency in skin biopsy. 61
9255383 1997
26
Merosin positive congenital muscular dystrophy with mental deficiency, epilepsy and MRI changes in the cerebral white matter. 61
9185183 1997
27
Mild clinical phenotype in a 12-year-old boy with partial merosin deficiency and central and peripheral nervous system abnormalities. 61
8938702 1996
28
Merosin-negative congenital muscular dystrophy, occipital epilepsy with periodic spasms and focal cortical dysplasia. Report of three Italian cases in two families. 61
8879653 1996
29
Merosin-negative non-Fukuyama-type congenital muscular dystrophy: a case report. 61
8733905 1996
30
Basement membrane abnormality in merosin-negative congenital muscular dystrophy. 61
8928608 1996
31
Merosin-negative congenital muscular dystrophy associated with extensive brain abnormalities. 61
7501163 1995
32
Deficiency of laminin alpha 2-chain mRNA in muscle in a patient with merosin-negative congenital muscular dystrophy. 61
7643867 1995
33
Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping. 61
7833925 1994

Variations for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy

ClinVar genetic disease variations for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy:

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LAMA2 NM_000426.3(LAMA2):c.5260del (p.Lys1753_Val1754insTer)deletion Pathogenic 196993 rs794727594 6:129714215-129714215 6:129393070-129393070
2 LAMA2 NM_000426.3(LAMA2):c.2749+1G>CSNV Pathogenic 194920 rs759555791 6:129609204-129609204 6:129288059-129288059
3 LAMA2 LAMA2, 1-BP DEL, 8314Adeletion Pathogenic 14292
4 LAMA2 NM_000426.3(LAMA2):c.7691T>C (p.Leu2564Pro)SNV Pathogenic 14294 rs121913570 6:129802526-129802526 6:129481381-129481381
5 LAMA2 LAMA2, 2-BP DEL, 2098AGdeletion Pathogenic 14295
6 LAMA2 NM_000426.3(LAMA2):c.7732C>T (p.Arg2578Ter)SNV Pathogenic 14296 rs121913572 6:129802567-129802567 6:129481422-129481422
7 LAMA2 NM_000426.3(LAMA2):c.4645C>T (p.Arg1549Ter)SNV Pathogenic 14299 rs121913575 6:129674430-129674430 6:129353285-129353285
8 LAMA2 NM_000426.3(LAMA2):c.7147C>T (p.Arg2383Ter)SNV Pathogenic 14300 rs121913576 6:129785589-129785589 6:129464444-129464444
9 LAMA2 NM_000426.3(LAMA2):c.2901C>A (p.Cys967Ter)SNV Pathogenic 14301 rs121913577 6:129618874-129618874 6:129297729-129297729
10 LAMA2 NM_000426.3(LAMA2):c.825del (p.Tyr276fs)deletion Pathogenic 14302 rs1562275792 6:129468109-129468109 6:129146964-129146964
11 LAMA2 NM_000426.3(LAMA2):c.7750-1713_7899-2153deldeletion Pathogenic 14303 6:129805906-129810893 6:129484761-129489748
12 LAMA2 NM_001079823.2(LAMA2):c.1854_1861dup (p.Leu621fs)duplication Pathogenic 38339 rs202247791 6:129571327-129571328 6:129250182-129250183
13 LAMA2 LAMA2, IVS30, A-T, -2SNV Pathogenic 14289
14 LAMA2 NM_000426.3(LAMA2):c.3630del (p.Ile1210fs)deletion Pathogenic 92954 rs398123372 6:129636694-129636694 6:129315549-129315549
15 LAMA2 NM_000426.3(LAMA2):c.3976C>T (p.Arg1326Ter)SNV Pathogenic 92956 rs398123373 6:129637234-129637234 6:129316089-129316089
16 LAMA2 NM_000426.3(LAMA2):c.5914C>T (p.Gln1972Ter)SNV Pathogenic 92971 rs398123378 6:129748945-129748945 6:129427800-129427800
17 LAMA2 NM_000426.3(LAMA2):c.6955C>T (p.Arg2319Ter)SNV Pathogenic 92980 rs398123383 6:129781432-129781432 6:129460287-129460287
18 LAMA2 NM_000426.3(LAMA2):c.1303C>T (p.Arg435Ter)SNV Pathogenic 235805 rs773209126 6:129486817-129486817 6:129165672-129165672
19 LAMA2 NM_000426.3(LAMA2):c.5116C>T (p.Arg1706Ter)SNV Pathogenic 287913 rs758775001 6:129712680-129712680 6:129391535-129391535
20 LAMA2 NM_000426.3(LAMA2):c.5476C>T (p.Arg1826Ter)SNV Pathogenic 265426 rs747349942 6:129722399-129722399 6:129401254-129401254
21 LAMA2 NM_000426.3(LAMA2):c.8665G>A (p.Gly2889Arg)SNV Pathogenic 266017 rs886039896 6:129826462-129826462 6:129505317-129505317
22 LAMA2 NM_000426.3(LAMA2):c.3799_3821del (p.Phe1267fs)deletion Pathogenic 280520 rs750220830 6:129636968-129636990 6:129315823-129315845
23 LAMA2 NM_000426.3(LAMA2):c.396+1G>TSNV Pathogenic 282977 rs770617208 6:129381042-129381042 6:129059897-129059897
24 LAMA2 NM_000426.3(LAMA2):c.4048C>T (p.Arg1350Ter)SNV Pathogenic 284984 rs756854513 6:129637306-129637306 6:129316161-129316161
25 LAMA2 NM_000426.3(LAMA2):c.817A>T (p.Arg273Ter)SNV Pathogenic 287489 rs886043648 6:129465223-129465223 6:129144078-129144078
26 LAMA2 NM_000426.3(LAMA2):c.7074C>A (p.Tyr2358Ter)SNV Pathogenic 431964 rs762806915 6:129785516-129785516 6:129464371-129464371
27 LAMA2 NM_000426.3(LAMA2):c.397-4_478deldeletion Pathogenic 437434 rs1554217494 6:129419314-129419399 6:129098169-129098254
28 LAMA2 NM_000426.3(LAMA2):c.7452-1G>ASNV Pathogenic 437435 rs1554304931 6:129799837-129799837 6:129478692-129478692
29 LAMA2 NM_000426.3(LAMA2):c.3924+2T>CSNV Pathogenic 447685 rs1554269966 6:129637097-129637097 6:129315952-129315952
30 LAMA2 NM_000426.3(LAMA2):c.5234+1G>ASNV Pathogenic 447687 rs781376927 6:129712799-129712799 6:129391654-129391654
31 LAMA2 NM_000426.3(LAMA2):c.5866-2A>GSNV Pathogenic 477495 rs1554295204 6:129748895-129748895 6:129427750-129427750
32 LAMA2 NM_000426.3(LAMA2):c.7658del (p.Ser2553fs)deletion Pathogenic 477507 rs1293303410 6:129802493-129802493 6:129481348-129481348
33 LAMA2 NM_000426.3(LAMA2):c.8155G>T (p.Glu2719Ter)SNV Pathogenic 500711 rs1289855948 6:129813539-129813539 6:129492394-129492394
34 LAMA2 NM_000426.3(LAMA2):c.939_940del (p.Cys314fs)deletion Pathogenic 477529 rs1209130981 6:129470153-129470154 6:129149008-129149009
35 LAMA2 NM_000426.3(LAMA2):c.1300C>T (p.Arg434Ter)SNV Pathogenic 477436 rs1374568851 6:129486814-129486814 6:129165669-129165669
36 LAMA2 NM_000426.3(LAMA2):c.2T>C (p.Met1Thr)SNV Pathogenic 477459 rs374403765 6:129204392-129204392 6:128883247-128883247
37 LAMA2 NM_000426.3(LAMA2):c.363C>A (p.Tyr121Ter)SNV Pathogenic 551699 rs535635043 6:129381008-129381008 6:129059863-129059863
38 LAMA2 NM_000426.3(LAMA2):c.2230C>T (p.Arg744Ter)SNV Pathogenic 554268 rs775676341 6:129588272-129588272 6:129267127-129267127
39 LAMA2 NM_000426.3(LAMA2):c.5156_5159del (p.Lys1719fs)deletion Pathogenic 551648 rs1554286963 6:129712717-129712720 6:129391572-129391575
40 LAMA2 NM_000426.3(LAMA2):c.3085C>T (p.Arg1029Ter)SNV Pathogenic 551522 rs145420388 6:129621928-129621928 6:129300783-129300783
41 LAMA2 NM_000426.3(LAMA2):c.7490_7493dup (p.Asp2498fs)duplication Pathogenic 558356 rs1480934961 6:129799874-129799875 6:129478729-129478730
42 LAMA2 NM_000426.3(LAMA2):c.1122del (p.Gly376fs)deletion Pathogenic 552820 rs1338860420 6:129475744-129475744 6:129154599-129154599
43 LAMA2 NM_000426.3(LAMA2):c.3955C>T (p.Arg1319Ter)SNV Pathogenic 623353 rs1180309541 6:129637213-129637213 6:129316068-129316068
44 LAMA2 NM_001079823.2(LAMA2):c.4959+1deldeletion Pathogenic 689487 6:129691134-129691134 6:129369989-129369989
45 LAMA2 NM_000426.3(LAMA2):c.1893_1897del (p.Asp631fs)deletion Pathogenic 800887 6:129573234-129573238 6:129252089-129252093
46 LAMA2 NM_001079823.2(LAMA2):c.1255del (p.Ile419fs)deletion Pathogenic 802260 6:129486768-129486768 6:129165623-129165623
47 LAMA2 NM_001079823.2(LAMA2):c.3329del (p.Leu1110fs)deletion Pathogenic 802262 6:129634160-129634160 6:129313015-129313015
48 LAMA2 NM_001079823.2(LAMA2):c.3560_3561CT[1] (p.Leu1188fs)short repeat Pathogenic 802263 6:129636625-129636626 6:129315480-129315481
49 LAMA2 NM_001079823.2(LAMA2):c.4739dup (p.Leu1581fs)duplication Pathogenic 802264 6:129687383-129687384 6:129366238-129366239
50 LAMA2 NM_001079823.2(LAMA2):c.4936G>T (p.Glu1646Ter)SNV Pathogenic 802265 6:129691112-129691112 6:129369967-129369967

Expression for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy

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GO Terms for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy

Sources for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy

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