MCID: CNG112
MIFTS: 27

Congenital Muscular Dystrophy Type 1a malady

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

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
See all MalaCards sources

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

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

Classifications:



External Ids:

Orphanet51 258
ICD10 via Orphanet28 G71.2
UMLS via Orphanet66 C1263858
UMLS65 C1263858, C1449563

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, congenital merosin-deficient and lama2-related muscular dystrophy. An important gene associated with Congenital Muscular Dystrophy Type 1a is LAMA2 (Laminin Subunit Alpha 2). Affiliated tissues include eye, brain and skin.

Related Diseases for Congenital Muscular Dystrophy Type 1a

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Graphical network of 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):

(show all 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Vitamin Capproved, nutraceuticalPhase 2, Phase 342450-81-75785, 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
2VitaminsPhase 2, Phase 33857
3Trace ElementsPhase 2, Phase 33900
4Protective AgentsPhase 2, Phase 35651
5MicronutrientsPhase 2, Phase 33901
6AntioxidantsPhase 2, Phase 32442

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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Anatomical Context for Congenital Muscular Dystrophy Type 1a

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

33
Eye, Brain, Skin

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
Neonatal Meningitis due to Neisseria meningitidis Serogroup Y. (25228622)
2014
2
Incidence and risk factors for pulmonary embolism after primary musculoskeletal tumor surgery. (23690155)
2013
3
Apical voltage-driven urate efflux transporter NPT4 in renal proximal tubule. (22132991)
2011
4
Effect on skin and hormonal hyperandrogenic manifestations of an oral estroprogestin association containing ethynilestradiol 30 mg and drospirenone 3 mg]. (18547986)
2008
5
Progesterone increases csk homologous kinase in HMC-1560 human mast cells and reduces cell proliferation. (17492661)
2007
6
Long-term results of Smillie pin fixation of osteochondritis dissecans in the femoral condyles. (7645913)
1995
7
Regulation of proenkephalin expression in cultured skin mesenchymal cells. (1584216)
1992

Variations for Congenital Muscular Dystrophy Type 1a

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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