MCID: CNG112
MIFTS: 27

Congenital Muscular Dystrophy Type 1a malady

Genetic diseases, Rare diseases, Neuronal diseases, Cardiovascular diseases, Muscle diseases categories

Aliases & Classifications for Congenital Muscular Dystrophy Type 1a

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Sources:
45NIH Rare Diseases, 51Orphanet, 24GTR, 65UMLS, 28ICD10 via Orphanet, 66UMLS via Orphanet
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Aliases & Descriptions for Congenital Muscular Dystrophy Type 1a:

Name: Congenital Muscular Dystrophy Type 1a 45 51
Muscular Dystrophy, Congenital, Merosin-Deficient 45 24
Merosin-Negative Congenital Muscular Dystrophy 45 51
Mdc1a 45 51
Congenital Muscular Dystrophy Due to Laminin Alpha2 Deficiency 51
Muscular Dystrophy Congenital, Merosin Negative 65
 
Merosin-Deficient Congenital Muscular Dystrophy 45
Cardiomyopathy, Familial Idiopathic 65
Lama2-Related Muscular Dystrophy 45
Laminin Alpha-2 Deficiency 45
Cmd1a 51


Classifications:



Characteristics (Orphanet epidemiological data):

51
merosin-negative congenital muscular dystrophy:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Neonatal; Age of death: adolescent,late childhood


External Ids:

Orphanet51 258
ICD10 via Orphanet28 G71.2
UMLS via Orphanet66 C1263858

Summaries for Congenital Muscular Dystrophy Type 1a

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NIH Rare Diseases:45 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. last updated: 9/26/2011

MalaCards based summary: Congenital Muscular Dystrophy Type 1a, also known as muscular dystrophy, congenital, merosin-deficient, is related to muscular dystrophy and cerebritis. An important gene associated with Congenital Muscular Dystrophy Type 1a is LAMA2 (Laminin, Alpha 2). Affiliated tissues include eye.

Related Diseases for Congenital Muscular Dystrophy Type 1a

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



Diseases related to congenital muscular dystrophy type 1a

Symptoms for Congenital Muscular Dystrophy Type 1a

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Drugs & Therapeutics for Congenital Muscular Dystrophy Type 1a

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Drugs for Congenital Muscular Dystrophy Type 1a (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Vitamin Capproved, nutraceuticalPhase 2, Phase 339850-81-75785, 54670067
Synonyms:
(+)-Sodium L-ascorbate
(+)-ascorbate
(+)-ascorbic acid
(2R)-2-[(1S)-1,2-Dihydroxyethyl]-4,5-dihydroxy-furan-3-one
(2R)-2-[(1S)-1,2-dihydroxyethyl]-4,5-dihydroxyfuran-3-one
(5R)-5-[(1S)-1,2-dihydroxyethyl]-3,4-dihydroxyfuran-2(5H)-one
129940-97-2
134-03-2 (monosodium salt)
14536-17-5
154170-90-8
2-(1,2-Dihydroxyethyl)-4,5-dihydroxyfuran-3-one
255564_SIAL
259133-78-3
3-Keto-L-gulofuranolactone
3-Oxo-L-gulofuranolactone
3-Oxo-L-gulofuranolactone (enol form)
30208-61-8
33034_RIEDEL
33034_SIAL
47863_SUPELCO
47A605F0-4187-47A8-B0CE-F9E7DA1B0076
50-81-7
50976-75-5
56172-55-5
56533-05-2
57304-74-2
57606-40-3
623158-95-2
6730-29-6
882690-91-7
884381-69-5
885512-24-3
88845-26-5
89924-69-6
95209_FLUKA
95209_SIGMA
95210_FLUKA
95210_SIAL
95212_FLUKA
A0278_SIGMA
A0537
A2174_SIGMA
A2218_SIGMA
A2343_SIGMA
A4403_SIGMA
A4544_SIGMA
A5960_SIGMA
A7506_SIGMA
A92902_ALDRICH
A92902_SIAL
AA
AB00376923
AB1002440
AC1L1L4T
AC1Q77S6
AR-1J3435
Acid Ascorbic
Acide ascorbique
Acide ascorbique [INN-French]
Acido ascorbico
Acido ascorbico [INN-Spanish]
Acidum ascorbicum
Acidum ascorbicum [INN-Latin]
Acidum ascorbinicum
Adenex
Allercorb
Ambap36431-82-0
Antiscorbic Vitamin
Antiscorbic vitamin
Antiscorbutic Vitamin
Antiscorbutic factor
Antiscorbutic vitamin
Arco-Cee
Arco-cee
Ascoltin
Ascoltin (TN)
Ascor-B.I.D.
Ascorb
Ascorbajen
Ascorbate
Ascorbic Acid
Ascorbic Acid, Monosodium Salt
Ascorbic acid
Ascorbic acid (JP15/USP/INN)
Ascorbic acid [BAN:INN:JAN]
Ascorbic acid [INN:BAN:JAN]
Ascorbicab
Ascorbicap
Ascorbicap (TN)
Ascorbicin
Ascorbin
Ascorbinsaeure
Ascorbutina
Ascorbyl radical
Ascorin
Ascorteal
Ascorvit
BPBio1_000363
BSPBio_000329
Babor Baborganic Biological Enzyme Cleanser
C-Level
C-Long
C-Quin
C-Span
C-Vimin
C00072
C6H8O6
CCRIS 57
CE-VI-Sol
CHEBI:29073
CHEMBL196
CID5785
Cantan
Cantaxin
Caswell No. 061B
Catavin C
Ce Lent
Ce lent
Ce-Mi-Lin
Ce-mi-lin
Ce-vi-sol
Cebicure
Cebid
Cebion
Cebione
Cecon
Cee-Caps TD
Cee-Caps Td
Cee-Vite
Cee-caps TD
Cee-vite
Cegiolan
Ceglion
Ceklin
Celaskon
Celin
Cell C
Cemagyl
Cemill
Cenetone
Cenolate
Cereon
Cergona
Cescorbat
Cetamid
Cetane
Cetane-Caps TC
Cetane-Caps TD
Cetane-Caps Tc
Cetane-Caps Td
Cetane-caps TC
Cetane-caps TD
Cetebe
 
Cetemican
Cevalin
Cevatine
Cevex
Cevi-Bid
Cevi-bid
Cevimin
Cevital
Cevitamate
Cevitamic Acid
Cevitamic acid
Cevitamin
Cevitan
Cevitex
Cewin
Chewcee
Ciamin
Cipca
Citriscorb
Citrovit
Colascor
Concemin
Cortalex
D00018
DB00126
Davitamon C
Dora-C-500
Duoscorb
EINECS 200-066-2
FEMA No. 2109
Ferancee
Ferrous ascorbate
HSDB 818
HiCee
Hicee
Hybrin
IDO-C
Ido-C
Iron(II) ascorbate
Iron-ascorbic acid complexes
Juvamine
Kangbingfeng
Kyselina Askorbova
Kyselina askorbova
Kyselina askorbova [Czech]
L(+)-Ascorbate
L(+)-Ascorbic acid
L-(+)-Ascorbate
L-(+)-Ascorbic Acid
L-(+)-Ascorbic acid
L-(+)-ascorbic acid
L-3-Ketothreohexuronic acid lactone
L-3-ketothreohexuronic acid
L-Ascorbate
L-Ascorbic Acid
L-Ascorbic acid
L-Ascorbic acid, free radical form
L-Lyxoascorbate
L-Lyxoascorbic Acid
L-Lyxoascorbic acid
L-Threo-ascorbic acid
L-Threoascorbic acid
L-Xyloascorbate
L-Xyloascorbic Acid
L-Xyloascorbic acid
L-ascorbate
L-threo-Hex-2-enonic acid, gamma-lactone
L-threo-ascorbic acid
L-threo-hex-2-enono-1,4-lactone
LS-145
Laroscorbine
Lemascorb
Liqui-Cee
Liqui-cee
MLS002153776
Magnesium Ascorbicum
Magnorbin
Meri-C
Meri-c
MolPort-001-792-501
Monodehydroascorbic acid
NCGC00091517-01
NCGC00091517-02
NCGC00164357-01
NCI-C54808
NSC 33832
Natrascorb
Natrascorb injectable
Oral Vitamin C
Planavit C
Prestwick3_000325
Proscorbin
Redoxon
Ribena
Ronotec 100
Rontex 100
Roscorbic
Rovimix C
SMR001233160
Scorbacid
Scorbu C
Scorbu-C
Secorbate
Semidehydroascorbate
Sodascorbate
Sodium Ascorbate (Ascorbic Acid)
Stuartinic
Suncoat VC 40
Sunkist
Testascorbic
Tolfrinic
UNII-PQ6CK8PD0R
VASC
Vicelat
Vicin
Vicomin C
Viforcit
Viscorin
Viscorin 100M
Vitace
Vitacee
Vitacimin
Vitacin
Vitamin C
Vitamin- C
Vitamin-?C
Vitamisin
Vitascorbol
W210901_ALDRICH
Xitix
antiscorbic vita min
ascor-b.i.d
ascorbate
ascorbic acid
bmse000182
cee-caps td
cevibid
component of Cortalex
component of E and C-Level
component of Endoglobin Forte
component of Ferancee
e 300
e-300
e300
gamma-Lactone L-threo-Hex-2-enonate
gamma-Lactone L-threo-Hex-2-enonic acid
l-ascorbic acid
l-threo-hex-1-eofuranos-3-ulose
nchembio.174-comp5
nchembio.89-comp1
nchembio.92-comp2
nchembio821-comp9
roscorbi c
vitamin C

Interventional clinical trials:

idNameStatusNCT IDPhase
1High Dose Ascorbic Acid Treatment of CMT1ACompletedNCT00484510Phase 2, Phase 3
2Congenital Muscle Disease Study of Patient and Family Reported Medical InformationRecruitingNCT01403402
3Genetics of Charcot Marie Tooth (CMT) - Modifiers of CMT1A, New Causes of CMT2RecruitingNCT01193088
4LAMA2-related Muscular Dystrophy Brain StudyWithdrawnNCT01952028

Search NIH Clinical Center for Congenital Muscular Dystrophy Type 1a

Genetic Tests for Congenital Muscular Dystrophy Type 1a

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Genetic tests related to Congenital Muscular Dystrophy Type 1a:

id Genetic test Affiliating Genes
1 Merosin Deficient Congenital Muscular Dystrophy24

Anatomical Context for Congenital Muscular Dystrophy Type 1a

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

33
Eye

Animal Models for Congenital Muscular Dystrophy Type 1a or affiliated genes

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Publications for Congenital Muscular Dystrophy Type 1a

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Articles related to Congenital Muscular Dystrophy Type 1a:

idTitleAuthorsYear
1
Congenital muscular dystrophy type 1A with residual merosin expression. (24778697)
2014
2
Merosin-deficient congenital muscular dystrophy type 1A: A case report. (24223650)
2013
3
Transgenic overexpression of the I+7 integrin reduces muscle pathology and improves viability in the dy(W) mouse model of merosin-deficient congenital muscular dystrophy type 1A. (21652631)
2011
4
Muscle-specific expression of insulin-like growth factor 1 improves outcome in Lama2Dy-w mice, a model for congenital muscular dystrophy type 1A. (21441569)
2011
5
Intrinsic laryngeal muscles are spared from degeneration in the dy3K/dy3K mouse model of congenital muscular dystrophy type 1A. (19086066)
2009
6
Merosin-deficient congenital muscular dystrophy type 1A. (18516331)
2008

Variations for Congenital Muscular Dystrophy Type 1a

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

5 (show all 41)
id Gene Variation Type Significance SNP ID Assembly Location
1LAMA2LAMA2, IVS30, A-T, -2single nucleotide variantPathogenic
2LAMA2NM_000426.3(LAMA2): c.3718C> T (p.Gln1240Ter)single nucleotide variantPathogenicrs121913569GRCh37Chr 6, 129636783: 129636783
3LAMA2NM_000426.3(LAMA2): c.9253C> T (p.Arg3085Ter)single nucleotide variantPathogenicrs121913571GRCh37Chr 6, 129837376: 129837376
4LAMA2LAMA2, 1-BP DEL, 8314AdeletionPathogenic
5LAMA2NM_000426.3(LAMA2): c.7691T> C (p.Leu2564Pro)single nucleotide variantPathogenicrs121913570GRCh37Chr 6, 129802526: 129802526
6LAMA2LAMA2, 2-BP DEL, 2098AGdeletionPathogenic
7LAMA2NM_000426.3(LAMA2): c.7732C> T (p.Arg2578Ter)single nucleotide variantPathogenicrs121913572GRCh37Chr 6, 129802567: 129802567
8LAMA2NM_000426.3(LAMA2): c.7147C> T (p.Arg2383Ter)single nucleotide variantPathogenicrs121913576GRCh37Chr 6, 129785589: 129785589
9LAMA2NM_000426.3(LAMA2): c.2901C> A (p.Cys967Ter)single nucleotide variantPathogenicrs121913577GRCh37Chr 6, 129618874: 129618874
10LAMA2LAMA, 1-BP DEL, 825CdeletionPathogenic
11LAMA2NM_000426.3(LAMA2): c.7750-1713_7899-2153del4987deletionPathogenicGRCh37Chr 6, 129805906: 129810893
12LAMA2NM_000426.3(LAMA2): c.32T> C (p.Leu11Pro)single nucleotide variantLikely pathogenicrs730880252GRCh38Chr 6, 128883277: 128883277
13LAMA2NM_000426.3(LAMA2): c.5563-2A> Gsingle nucleotide variantLikely pathogenicrs786204779GRCh37Chr 6, 129723467: 129723467
14LAMA2NM_000426.3(LAMA2): c.2461A> C (p.Thr821Pro)single nucleotide variantPathogenicrs186538779GRCh38Chr 6, 129280071: 129280071
15LAMA2NM_000426.3(LAMA2): c.1855_1856insATGTTCAC (p.Arg619Hisfs)insertionPathogenicrs797044643GRCh37Chr 6, 129571329: 129571330
16LAMA2NM_000426.3(LAMA2): c.2749+1G> Csingle nucleotide variantPathogenicrs759555791GRCh37Chr 6, 129609204: 129609204
17LAMA2NM_000426.3(LAMA2): c.5260delG (p.Val1754Terfs)deletionPathogenicrs794727594GRCh37Chr 6, 129714215: 129714215
18LAMA2NM_000426.3(LAMA2): c.5562+5G> Csingle nucleotide variantPathogenicrs771046502GRCh37Chr 6, 129722490: 129722490
19LAMA2NM_000426.3(LAMA2): c.524_534dupAGTGCCTAACG (p.Leu179Serfs)duplicationPathogenicrs797044728GRCh37Chr 6, 129419445: 129419455
20LAMA2NM_000426.3(LAMA2): c.7810C> T (p.Arg2604Ter)single nucleotide variantPathogenicrs766920075GRCh37Chr 6, 129807679: 129807679
21LAMA2NM_000426.3(LAMA2): c.2049_2050delAG (p.Arg683Serfs)deletionPathogenicrs202247790GRCh37Chr 6, 129573393: 129573394
22LAMA2NM_000426.3(LAMA2): c.1854_1861dupACGTGTTC (p.Leu621Hisfs)duplicationPathogenicrs202247791GRCh37Chr 6, 129571328: 129571335
23LAMA2NM_000426.3(LAMA2): c.2049_2050delAG (p.Arg683Serfs)deletionPathogenicrs202247790GRCh37Chr 6, 129573393: 129573394
24LAMA2NM_000426.3(LAMA2): c.7881T> G (p.His2627Gln)single nucleotide variantPathogenicrs202247792GRCh37Chr 6, 129807750: 129807750
25LAMA2NM_000426.3(LAMA2): c.112+1G> Asingle nucleotide variantPathogenicrs398123367GRCh37Chr 6, 129204503: 129204503
26LAMA2NM_000426.3(LAMA2): c.184G> T (p.Gly62Ter)single nucleotide variantPathogenicrs398123368GRCh37Chr 6, 129371134: 129371134
27LAMA2NM_000426.3(LAMA2): c.2750-1G> Csingle nucleotide variantPathogenicrs9492297GRCh37Chr 6, 129612758: 129612758
28LAMA2NM_000426.3(LAMA2): c.2962C> T (p.Gln988Ter)single nucleotide variantPathogenicrs398123371GRCh37Chr 6, 129618935: 129618935
29LAMA2NM_000426.3(LAMA2): c.3630delT (p.Ile1210Metfs)deletionPathogenicrs398123372GRCh37Chr 6, 129636695: 129636695
30LAMA2NM_000426.3(LAMA2): c.3976C> T (p.Arg1326Ter)single nucleotide variantPathogenicrs398123373GRCh37Chr 6, 129637234: 129637234
31LAMA2NM_000426.3(LAMA2): c.4523+1G> Asingle nucleotide variantPathogenicrs398123375GRCh37Chr 6, 129670530: 129670530
32LAMA2NM_000426.3(LAMA2): c.5050G> T (p.Glu1684Ter)single nucleotide variantPathogenicrs201632009GRCh37Chr 6, 129704357: 129704357
33LAMA2NM_000426.3(LAMA2): c.5706_5712delCTCATCT (p.Asp1902Glufs)deletionPathogenicrs398123377GRCh37Chr 6, 129723612: 129723618
34LAMA2NM_000426.3(LAMA2): c.5914C> T (p.Gln1972Ter)single nucleotide variantPathogenicrs398123378GRCh37Chr 6, 129748945: 129748945
35LAMA2NM_000426.3(LAMA2): c.6011delA (p.Asn2004Metfs)deletionPathogenicrs398123379GRCh37Chr 6, 129759833: 129759833
36LAMA2NM_000426.3(LAMA2): c.6038delT (p.Leu2013Terfs)deletionPathogenicrs398123380GRCh37Chr 6, 129759860: 129759860
37LAMA2NM_000426.3(LAMA2): c.6955C> T (p.Arg2319Ter)single nucleotide variantPathogenicrs398123383GRCh37Chr 6, 129781432: 129781432
38LAMA2NM_000426.3(LAMA2): c.7279_7280delCT (p.Leu2427Valfs)deletionPathogenicrs398123385GRCh37Chr 6, 129786413: 129786414
39LAMA2NM_000426.3(LAMA2): c.7536delC (p.Asp2513Ilefs)deletionPathogenicrs398123387GRCh37Chr 6, 129799922: 129799922
40LAMA2NM_000426.3(LAMA2): c.9101_9104dupAACA (p.His3035Glnfs)duplicationPathogenicrs398123390GRCh38Chr 6, 129514485: 129514488
41LAMA2NM_000426.3(LAMA2): c.9212-1G> Asingle nucleotide variantPathogenicrs398123391GRCh37Chr 6, 129837334: 129837334

Expression for genes affiliated with Congenital Muscular Dystrophy Type 1a

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

Pathways for genes affiliated with Congenital Muscular Dystrophy Type 1a

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GO Terms for genes affiliated with Congenital Muscular Dystrophy Type 1a

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Sources for Congenital Muscular Dystrophy Type 1a

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet