Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: LMN012 MIFTS: 35	Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy Categories: Muscle diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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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:

MalaCards categories:
Global: Rare diseases
Anatomical: Neuronal diseases Muscle diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the nervous system

Diseases of myoneural junction and muscle

Primary disorders of muscles

Congenital myopathies

Orphanet: ⁵⁸

Rare neurological diseases

External Ids:

ICD10 via Orphanet ³³ G71.2

UMLS via Orphanet ⁷² C1263858

Orphanet ⁵⁸ ORPHA258

SNOMED-CT via HPO ⁶⁸ 102594003 102968003 111266001 more

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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 congenital muscular dystrophy type 1a 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 gastroesophageal reflux and motor delay

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

Diseases in the Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy family:

Laminin Subunit Alpha 2-Related Muscular Dystrophy

Diseases related to Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)

#	Related Disease	Score
1	congenital muscular dystrophy type 1a	11.4
2	cardiomyopathy, dilated, 1a	11.2
3	cardiomyopathy, dilated, 1l	11.0
4	muscular dystrophy, congenital merosin-deficient, 1a	10.9
5	muscular dystrophy, congenital, lmna-related	10.4
6	muscular dystrophy	10.4
7	polymicrogyria with or without vascular-type ehlers-danlos syndrome	10.4
8	polymicrogyria	10.4
9	canavan disease	10.2
10	lissencephaly	10.2
11	autosomal recessive disease	10.2
12	neuromuscular disease	10.2
13	seizure disorder	10.2
14	cobblestone lissencephaly	10.2
15	lama2 muscular dystrophy	10.1
16	leigh syndrome	10.1
17	scoliosis	10.1
18	peripheral nervous system disease	10.1
19	neuropathy	10.1
20	limb-girdle muscular dystrophy	10.1
21	progressive muscular dystrophy	10.1
22	neurometabolic disease	10.1
23	muscular atrophy	10.1
24	atrial standstill 1	10.0
25	dilated cardiomyopathy	10.0
26	marfan syndrome	9.9
27	hypotonia	9.9

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

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

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

⁵⁸ ³¹ (show top 50) (show all 56)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	gastroesophageal reflux ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002020
2	motor delay ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001270
3	respiratory failure ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002878
4	weak cry ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001612
5	myositis ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0100614
6	congenital muscular dystrophy ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0003741
7	inability to walk ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002540
8	hypokinesia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002375
9	muscle fiber atrophy ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0100295
10	increased connective tissue ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0009025
11	absent muscle fiber merosin ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0030091
12	highly elevated creatine kinase ³¹	hallmark (90%)		HP:0030234
13	intellectual disability ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001249
14	facial palsy ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0010628
15	macroglossia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000158
16	flexion contracture ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001371
17	emg abnormality ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003457
18	impaired mastication ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0005216
19	aspiration ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002835
20	abnormality of the temporomandibular joint ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0010754
21	cerebral edema ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002181
22	astrocytosis ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002446
23	recurrent lower respiratory tract infections ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002783
24	abnormal brainstem mri signal intensity ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0012747
25	scoliosis ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002650
26	dysphagia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002015
27	hyperlordosis ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0003307
28	neonatal hypotonia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001319
29	abnormality of visual evoked potentials ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000649
30	cognitive impairment ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0100543
31	reduced tendon reflexes ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001315
32	arrhythmia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0011675
33	open mouth ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000194
34	protruding tongue ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0010808
35	atelectasis ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0100750
36	decreased body weight ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0004325
37	pachygyria ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001302
38	cardiomyopathy ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001638
39	reduced ejection fraction ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0012664
40	focal-onset seizure ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0007359
41	sensorimotor neuropathy ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0007141
42	myopathic facies ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002058
43	hypoventilation ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002791
44	intercostal muscle weakness ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0004878
45	pontocerebellar atrophy ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0006879
46	generalized non-motor (absence) seizure ³¹	occasional (7.5%)		HP:0002121
47	pulmonary arterial hypertension ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0002092
48	seizures ⁵⁸		Frequent (79-30%)
49	muscular hypotonia ⁵⁸		Very frequent (99-80%)
50	muscle weakness ⁵⁸		Very frequent (99-80%)

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

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	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
2	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

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

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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

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Publications for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy

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

(show all 30)

#	Title	Authors	PMID	Year
1	Targeted Next Generation Sequencing Identifies a Novel Deletion in LAMA2 Gene in a Merosin Deficient Congenital Muscular Dystrophy Patient. ⁶	Bhowmik AD...Aggarwal S	26104111	2016
2	LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients. ⁶	Oliveira J...Bronze-da-Rocha E	18700894	2008
3	LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect. ⁶	Di Blasi C...Mora M	16216942	2005
4	Severe congenital muscular dystrophy in a Mexican family with a new nonsense mutation (R2578X) in the laminin alpha-2 gene. ⁶	Coral-Vazquez RM...Salamanca F	12601554	2003
5	Congenital muscular dystrophy with primary partial laminin alpha2 chain deficiency: molecular study. ⁶	He Y...Guicheney P	11591858	2001
6	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	Guicheney P...Tryggvason K	9541105	1998
7	Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. ⁶	Helbling-Leclerc A...Tryggvason K	7550355	1995
8	Merosin-negative congenital muscular dystrophy: Report of five cases. ⁶¹	Incecik F...Altunbasak S	26962340	2015
9	Evaluation of one hundred pediatric muscle biopsies during a 2-year period in mofid children and toos hospitals. ⁶¹	Nilipor Y...Tonekaboni SH	24665292	2013
10	Merosin-deficient congenital muscular dystrophy type 1A. ⁶¹	Buteica E...Zavaleanu M	18516331	2008
11	Brain MRI features of merosin-negative congenital muscular dystrophy. ⁶¹	Ibrahim Abdulla JK...Abubacker S	17991069	2007
12	Merosin-negative congenital muscular dystrophy: diffusion-weighted imaging findings of brain. ⁶¹	Alkan A...Yakinci C	17690079	2007
13	Merosin-negative congenital muscular dystrophy: magnetic resonance spectroscopy findings. ⁶¹	Aslan M...Zorludemir S	15862197	2005
14	Merosin-deficient congenital muscular dystrophy in two siblings. ⁶¹	Hui CM...Loo KT	15591603	2004
15	Merosin negative congenital muscular dystrophy: a short report. ⁶¹	Ralte AM...Sarkar C	14652462	2003
16	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	Petrini S...Bertini E	12812755	2003
17	Congenital muscular dystrophy in Israeli families. ⁶¹	Rachmiel M...Shahar E	12150578	2002
18	Nonmuscular involvement in merosin-negative congenital muscular dystrophy. ⁶¹	Gilhuis HJ...Gabreels FJ	11814732	2002
19	A case of merosin-negative congenital muscular dystrophy with extensive white matter abnormalities and electroencephalographic changes in a Syrian boy. ⁶¹	Al-Ajmi MO...Neubauer D	12184464	2001
20	Expression of laminin alpha1, alpha2, alpha4, and alpha5 chains, fibronectin, and tenascin-C in skeletal muscle of dystrophic 129ReJ dy/dy mice. ⁶¹	Ringelmann B...Sorokin L	9882526	1999
21	Congenital muscular dystrophy, white-matter abnormalities, and neuronal migration disorders: the expanding concept. ⁶¹	Mackay MT...Dennett X	9796753	1998
22	Immunohistochemical study of merosin-negative congenital muscular dystrophy: laminin alpha 2 deficiency in skin biopsy. ⁶¹	Marbini A...Gemignani F	9255383	1997
23	Merosin positive congenital muscular dystrophy with mental deficiency, epilepsy and MRI changes in the cerebral white matter. ⁶¹	Echenne B...Pons F	9185183	1997
24	Mild clinical phenotype in a 12-year-old boy with partial merosin deficiency and central and peripheral nervous system abnormalities. ⁶¹	Mora M...Morandi L	8938702	1996
25	Merosin-negative congenital muscular dystrophy, occipital epilepsy with periodic spasms and focal cortical dysplasia. Report of three Italian cases in two families. ⁶¹	Pini A...Gobbi G	8879653	1996
26	Merosin-negative non-Fukuyama-type congenital muscular dystrophy: a case report. ⁶¹	Yamashita Y...Nonaka I	8733905	1996
27	Basement membrane abnormality in merosin-negative congenital muscular dystrophy. ⁶¹	Osari S...Nonaka I	8928608	1996
28	Merosin-negative congenital muscular dystrophy associated with extensive brain abnormalities. ⁶¹	Sunada Y...Campbell KP	7501163	1995
29	Deficiency of laminin alpha 2-chain mRNA in muscle in a patient with merosin-negative congenital muscular dystrophy. ⁶¹	Hayashi YK...Arahata K	7643867	1995
30	Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping. ⁶¹	Hillaire D...Evangelista T	7833925	1994

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Genes for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy

Genes related to Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	LAMA2	Laminin Subunit Alpha 2	Protein Coding	775	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶ Causative germline mutation ⁵⁸ Likely pathogenic ⁶	12601554 18700894 16216942 (more) 9541105 11591858 7550355 26104111

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Variations for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy

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

⁶ (show top 50) (show all 354)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	LAMA2	LAMA2, 1-BP DEL, 8314A	Deletion	Pathogenic	14292
2	LAMA2	NM_000426.3(LAMA2):c.7691T>C (p.Leu2564Pro)	SNV	Pathogenic	14294	rs121913570	6:129802526-129802526	6:129481381-129481381
3	LAMA2	LAMA2, 2-BP DEL, 2098AG	Deletion	Pathogenic	14295
4	LAMA2	NM_000426.3(LAMA2):c.2901C>A (p.Cys967Ter)	SNV	Pathogenic	14301	rs121913577	6:129618874-129618874	6:129297729-129297729
5	LAMA2	NM_000426.3(LAMA2):c.825del (p.Tyr276fs)	Deletion	Pathogenic	14302	rs1562275792	6:129468109-129468109	6:129146964-129146964
6	LAMA2	NM_000426.3(LAMA2):c.7750-1713_7899-2153del	Deletion	Pathogenic	14303		6:129805906-129810893	6:129484761-129489748
7	LAMA2	NM_001079823.2(LAMA2):c.1854_1861dup (p.Leu621fs)	Duplication	Pathogenic	38339	rs202247791	6:129571327-129571328	6:129250182-129250183
8	LAMA2	NM_000426.4(LAMA2):c.2461A>C (p.Thr821Pro)	SNV	Pathogenic	190218	rs186538779	6:129601216-129601216	6:129280071-129280071
9	LAMA2	LAMA2, IVS30, A-T, -2	SNV	Pathogenic	14289
10	LAMA2	NM_000426.3(LAMA2):c.7147C>T (p.Arg2383Ter)	SNV	Pathogenic	14300	rs121913576	6:129785589-129785589	6:129464444-129464444
11	LAMA2	NM_000426.4(LAMA2):c.2045_2046AG[2] (p.Arg683fs)	Microsatellite	Pathogenic	38340	rs202247790	6:129573393-129573394	6:129252244-129252245
12	LAMA2	NM_000426.3(LAMA2):c.8665G>A (p.Gly2889Arg)	SNV	Pathogenic	266017	rs886039896	6:129826462-129826462	6:129505317-129505317
13	LAMA2	NM_000426.3(LAMA2):c.4048C>T (p.Arg1350Ter)	SNV	Pathogenic	284984	rs756854513	6:129637306-129637306	6:129316161-129316161
14	LAMA2	NM_000426.3(LAMA2):c.7452-1G>A	SNV	Pathogenic	437435	rs1554304931	6:129799837-129799837	6:129478692-129478692
15	LAMA2	NM_000426.3(LAMA2):c.397-4_478del	Deletion	Pathogenic	437434	rs1554217494	6:129419314-129419399	6:129098169-129098254
16	LAMA2	NM_000426.3(LAMA2):c.3085C>T (p.Arg1029Ter)	SNV	Pathogenic	551522	rs145420388	6:129621928-129621928	6:129300783-129300783
17	LAMA2	NM_000426.3(LAMA2):c.5156_5159del (p.Lys1719fs)	Deletion	Pathogenic	551648	rs1554286963	6:129712717-129712720	6:129391572-129391575
18	LAMA2	NM_000426.3(LAMA2):c.363C>A (p.Tyr121Ter)	SNV	Pathogenic	551699	rs535635043	6:129381008-129381008	6:129059863-129059863
19	LAMA2	NM_000426.3(LAMA2):c.1122del (p.Gly376fs)	Deletion	Pathogenic	552820	rs1338860420	6:129475744-129475744	6:129154599-129154599
20	LAMA2	NM_000426.3(LAMA2):c.2230C>T (p.Arg744Ter)	SNV	Pathogenic	554268	rs775676341	6:129588272-129588272	6:129267127-129267127
21	LAMA2	NM_000426.3(LAMA2):c.3799_3821del (p.Phe1267fs)	Deletion	Pathogenic	280520	rs750220830	6:129636968-129636990	6:129315823-129315845
22	LAMA2	NM_000426.3(LAMA2):c.1303C>T (p.Arg435Ter)	SNV	Pathogenic	235805	rs773209126	6:129486817-129486817	6:129165672-129165672
23	LAMA2	NM_000426.3(LAMA2):c.7490_7493dup (p.Asp2498fs)	Duplication	Pathogenic	558356	rs1480934961	6:129799874-129799875	6:129478729-129478730
24	LAMA2	NM_000426.3(LAMA2):c.4645C>T (p.Arg1549Ter)	SNV	Pathogenic	14299	rs121913575	6:129674430-129674430	6:129353285-129353285
25	LAMA2	NM_000426.3(LAMA2):c.3955C>T (p.Arg1319Ter)	SNV	Pathogenic	623353	rs1180309541	6:129637213-129637213	6:129316068-129316068
26	LAMA2	NM_000426.4(LAMA2):c.3329del (p.Leu1110fs)	Deletion	Pathogenic	802262	rs1583470073	6:129634160-129634160	6:129313015-129313015
27	LAMA2	NM_000426.4(LAMA2):c.3560_3561CT[1] (p.Leu1188fs)	Microsatellite	Pathogenic	802263	rs1583475938	6:129636625-129636626	6:129315480-129315481
28	LAMA2	NM_000426.4(LAMA2):c.4739dup (p.Leu1581fs)	Duplication	Pathogenic	802264	rs1392196900	6:129687383-129687384	6:129366238-129366239
29	LAMA2	NM_000426.4(LAMA2):c.4936G>T (p.Glu1646Ter)	SNV	Pathogenic	802265	rs748541803	6:129691112-129691112	6:129369967-129369967
30	LAMA2	NM_000426.3(LAMA2):c.5234+1G>A	SNV	Pathogenic	447687	rs781376927	6:129712799-129712799	6:129391654-129391654
31	LAMA2	NM_000426.4(LAMA2):c.6196A>T (p.Lys2066Ter)	SNV	Pathogenic	802266	rs1583756552	6:129762071-129762071	6:129440926-129440926
32	LAMA2	NM_000426.3(LAMA2):c.3630del (p.Ile1210fs)	Deletion	Pathogenic	92954	rs398123372	6:129636694-129636694	6:129315549-129315549
33	LAMA2	NM_000426.4(LAMA2):c.1255del (p.Ile419fs)	Deletion	Pathogenic	802260	rs1185229314	6:129486768-129486768	6:129165623-129165623
34	LAMA2	NM_001079823.2(LAMA2):c.4959+1del	Deletion	Pathogenic	689487	rs1583591577	6:129691134-129691134	6:129369989-129369989
35	LAMA2	NM_000426.3(LAMA2):c.3924+2T>C	SNV	Pathogenic	447685	rs1554269966	6:129637097-129637097	6:129315952-129315952
36	LAMA2	NM_000426.4(LAMA2):c.3976C>T	SNV	Pathogenic	92956	rs398123373	6:129637234-129637234	6:129316089-129316089
37	LAMA2	NM_000426.3(LAMA2):c.5116C>T (p.Arg1706Ter)	SNV	Pathogenic	287913	rs758775001	6:129712680-129712680	6:129391535-129391535
38	LAMA2	NM_000426.3(LAMA2):c.7074C>A (p.Tyr2358Ter)	SNV	Pathogenic	431964	rs762806915	6:129785516-129785516	6:129464371-129464371
39	LAMA2	NM_000426.4(LAMA2):c.7732C>T	SNV	Pathogenic	14296	rs121913572	6:129802567-129802567	6:129481422-129481422
40	LAMA2	NM_000426.4(LAMA2):c.1263del (p.Ser421_Leu422insTer)	Deletion	Pathogenic	984699		6:129486776-129486776	6:129165631-129165631
41	LAMA2	NM_000426.4(LAMA2):c.2217G>A (p.Trp739Ter)	SNV	Pathogenic	988020		6:129588259-129588259	6:129267114-129267114
42	LAMA2	NM_000426.4(LAMA2):c.7732C>T	SNV	Pathogenic	14296	rs121913572	6:129802567-129802567	6:129481422-129481422
43	LAMA2	NM_000426.4(LAMA2):c.3976C>T	SNV	Pathogenic	92956	rs398123373	6:129637234-129637234	6:129316089-129316089
44	LAMA2	NM_000426.3(LAMA2):c.5116C>T (p.Arg1706Ter)	SNV	Pathogenic	287913	rs758775001	6:129712680-129712680	6:129391535-129391535
45	LAMA2	NM_000426.3(LAMA2):c.6488del (p.Lys2163fs)	Deletion	Pathogenic	265332	rs886039482	6:129774190-129774190	6:129453045-129453045
46	LAMA2	NM_000426.3(LAMA2):c.8244+1G>A	SNV	Pathogenic	550992	rs749522728	6:129813629-129813629	6:129492484-129492484
47	LAMA2	NM_000426.3(LAMA2):c.1893_1897del (p.Asp631fs)	Deletion	Pathogenic	800887	rs746844753	6:129573234-129573238	6:129252089-129252093
48	LAMA2	NM_000426.3(LAMA2):c.7888C>T (p.Arg2630Ter)	SNV	Pathogenic/Likely pathogenic	162579	rs727502851	6:129807757-129807757	6:129486612-129486612
49	LAMA2	NM_001079823.2(LAMA2):c.2556del (p.Phe852fs)	Deletion	Pathogenic/Likely pathogenic	477455	rs750731624	6:129609007-129609007	6:129287862-129287862
50	LAMA2	NM_000426.3(LAMA2):c.9253C>T (p.Arg3085Ter)	SNV	Pathogenic/Likely pathogenic	14291	rs121913571	6:129837376-129837376	6:129516231-129516231

Sources

Expression for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy

Search GEO for disease gene expression data for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy.

Sources

Pathways for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy

Sources

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

Sources

Sources for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy

¹ BioSystems

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⁷⁴ Wikipedia