DMDA2
MCID: LMB022
MIFTS: 32

Limb-Girdle Muscular Dystrophy, Type 2d (DMDA2) malady

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

Summaries for Limb-Girdle Muscular Dystrophy, Type 2d

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48OMIM, 34MalaCards
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MalaCards: Limb-Girdle Muscular Dystrophy, Type 2d, also known as alpha-sarcoglycanopathy, is related to limb-girdle muscular dystrophy and muscular dystrophy. An important gene associated with Limb-Girdle Muscular Dystrophy, Type 2d is SGCA (sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)).

Description from OMIM:48 608099

Aliases & Classifications for Limb-Girdle Muscular Dystrophy, Type 2d

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44NIH Rare Diseases, 23GTR, 21GeneTests, 50Orphanet, 48OMIM, 63UMLS, 27ICD10 via Orphanet, 64UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Muscle diseases


Characteristics (Orphanet epidemiological data):

50
alpha-sarcoglycanopathy:
Inheritance: Autosomal recessive; Age of onset: Childhood


Aliases & Descriptions:

limb-girdle muscular dystrophy, type 2d 44 23
alpha-sarcoglycanopathy 44 21 50
muscular dystrophy, limb-girdle, type 2d 48 63
lgmd2d 44 50
limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency 50
duchenne-like autosomal recessive muscular dystrophy, type 2 44
autosomal recessive limb-girdle muscular dystrophy type 2d 50
muscular dystrophy limb-girdle with alpha-sarcoglycan 44
dmda2 44


External Ids:

OMIM48 608099
ICD10 via Orphanet27 G71.0
UMLS via Orphanet64 C1842550, C2936332

Related Diseases for Limb-Girdle Muscular Dystrophy, Type 2d

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18GeneCards, 19GeneDecks
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Graphical network of diseases related to Limb-Girdle Muscular Dystrophy, Type 2d:



Diseases related to limb-girdle muscular dystrophy, type 2d

Symptoms for Limb-Girdle Muscular Dystrophy, Type 2d

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48OMIM
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Symptoms by clinical synopsis from OMIM:

608099

Clinical features from OMIM:

608099

Drugs & Therapeutics for Limb-Girdle Muscular Dystrophy, Type 2d

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Limb-Girdle Muscular Dystrophy, Type 2d

Drug clinical trials:

Search ClinicalTrials for Limb-Girdle Muscular Dystrophy, Type 2d

Search NIH Clinical Center for Limb-Girdle Muscular Dystrophy, Type 2d

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Genetic Tests for Limb-Girdle Muscular Dystrophy, Type 2d

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21GeneTests, 23GTR
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Genetic tests related to Limb-Girdle Muscular Dystrophy, Type 2d:

id Genetic test Affiliating Genes
1 Alpha-Sarcoglycanopathy21 SGCA
2 Limb-Girdle Muscular Dystrophy, Type 2d23

Anatomical Context for Limb-Girdle Muscular Dystrophy, Type 2d

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Animal Models for Limb-Girdle Muscular Dystrophy, Type 2d or affiliated genes

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Publications for Limb-Girdle Muscular Dystrophy, Type 2d

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53PubMed
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Articles related to Limb-Girdle Muscular Dystrophy, Type 2d:

idTitleAuthorsYear
1
Sustained alpha-sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D. (21031578)
2010
2
Limb-girdle muscular dystrophy type 2D gene therapy restores alpha-sarcoglycan and associated proteins. (19798725)
2009

Variations for Limb-Girdle Muscular Dystrophy, Type 2d

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Limb-Girdle Muscular Dystrophy, Type 2d:

65 (show all 27)
id Symbol AA change Variation ID SNP ID
1SGCAp.Arg77CysVAR_010387rs28933693
2SGCAp.Arg98HisVAR_010388
3SGCAp.Val175AlaVAR_010389
4SGCAp.Arg284CysVAR_010390rs137852623
5SGCAp.Pro30LeuVAR_010402
6SGCAp.Leu31ProVAR_010403
7SGCAp.Arg34CysVAR_010404
8SGCAp.Arg34HisVAR_010405
9SGCAp.Tyr62HisVAR_010406
10SGCAp.Gly68GluVAR_010407
11SGCAp.Arg74TrpVAR_010408
12SGCAp.Leu89ProVAR_010409
13SGCAp.Gly91ArgVAR_010410
14SGCAp.Ala93ValVAR_010411
15SGCAp.Asp97GlyVAR_010412
16SGCAp.Arg98CysVAR_010413
17SGCAp.Ile103ThrVAR_010414
18SGCAp.Ile124ThrVAR_010415
19SGCAp.Glu137LysVAR_010416
20SGCAp.Leu158PheVAR_010417
21SGCAp.Val196IleVAR_010418
22SGCAp.Pro205HisVAR_010419
23SGCAp.Val242AlaVAR_010420
24SGCAp.Leu173ProVAR_010431
25SGCAp.Pro228GlnVAR_010432
26SGCAp.Val247MetVAR_010433
27SGCAp.Glu137GlyVAR_037966rs28933694

Clinvar genetic disease variations for Limb-Girdle Muscular Dystrophy, Type 2d:

1
id Gene Name Type Significance SNP ID Assembly Location
1SGCANM_000023.2(SGCA): c.574C> T (p.Arg192Ter)single nucleotide variantPathogenicrs387907298GRCh37Chr 17, 48245923: 48245923
2SGCANM_000023.2(SGCA): c.293G> A (p.Arg98His)single nucleotide variantPathogenicrs137852621GRCh37Chr 17, 48245078: 48245078
3SGCANM_000023.2(SGCA): c.524T> C (p.Val175Ala)single nucleotide variantPathogenicrs137852622GRCh37Chr 17, 48245873: 48245873
4SGCANM_000023.2(SGCA): c.229C> T (p.Arg77Cys)single nucleotide variantPathogenicrs28933693GRCh37Chr 17, 48245014: 48245014
5SGCANM_000023.2(SGCA): c.410A> G (p.Glu137Gly)single nucleotide variantPathogenicrs397514451GRCh37Chr 17, 48245759: 48245759
6SGCANM_000023.2(SGCA): c.850C> T (p.Arg284Cys)single nucleotide variantPathogenicrs137852623GRCh37Chr 17, 48247606: 48247606
7SGCASGCA, TYR134TERundetermined variantPathogenic

Expression for genes affiliated with Limb-Girdle Muscular Dystrophy, Type 2d

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Limb-Girdle Muscular Dystrophy, Type 2d

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Pathways for genes affiliated with Limb-Girdle Muscular Dystrophy, Type 2d

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Compounds for genes affiliated with Limb-Girdle Muscular Dystrophy, Type 2d

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GO Terms for genes affiliated with Limb-Girdle Muscular Dystrophy, Type 2d

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Products for genes affiliated with Limb-Girdle Muscular Dystrophy, Type 2d

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  • Antibodies
  • Proteins
  • Lysates
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Sources for Limb-Girdle Muscular Dystrophy, Type 2d

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet