DMDA2
MCID: LMB022
MIFTS: 32

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

Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases categories
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Summaries for Limb-Girdle Muscular Dystrophy, Type 2d

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

Description from OMIM:46 608099

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

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 48Orphanet, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Limb-Girdle Muscular Dystrophy, Type 2d, Aliases & Descriptions:

Name: Limb-Girdle Muscular Dystrophy, Type 2d 42 22
Alpha-Sarcoglycanopathy 42 20 48
Muscular Dystrophy, Limb-Girdle, Type 2d 46 62
Lgmd2d 42 48
Limb-Girdle Muscular Dystrophy Due to Alpha-Sarcoglycan Deficiency 48
 
Duchenne-Like Autosomal Recessive Muscular Dystrophy, Type 2 42
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d 48
Muscular Dystrophy Limb-Girdle with Alpha-Sarcoglycan 42
Dmda2 42


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
alpha-sarcoglycanopathy:
Inheritance: Autosomal recessive; Age of onset: Childhood


External Ids:

OMIM46 608099
ICD10 via Orphanet26 G71.0
UMLS via Orphanet63 C1842550, C2936332

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

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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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Symptoms by clinical synopsis from OMIM:

608099

Clinical features from OMIM:

608099

HPO human phenotypes related to Limb-Girdle Muscular Dystrophy, Type 2d:

(show all 14)
id Description Frequency HPO Source Accession
1 scoliosis occasional (7.5%) HP:0002650
2 cardiomyopathy rare (5%) HP:0001638
3 autosomal recessive inheritance HP:0000007
4 flexion contracture HP:0001371
5 unsteady gait HP:0002317
6 elevated serum creatine phosphokinase HP:0003236
7 limb-girdle muscle weakness HP:0003325
8 emg HP:0003458
9 juvenile onset HP:0003621
10 progressive disorder HP:0003676
11 limb-girdle muscle atrophy HP:0003797
12 variable expressivity HP:0003828
13 limb-girdle muscular dystrophy HP:0006785
14 calf muscle hypertrophy HP:0008981

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

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Drug clinical trials:

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

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

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

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Genetic tests related to Limb-Girdle Muscular Dystrophy, Type 2d:

id Genetic test Affiliating Genes
1 Alpha-Sarcoglycanopathy20 SGCA
2 Limb-Girdle Muscular Dystrophy, Type 2d22

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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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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UniProtKB/Swiss-Prot genetic disease variations for Limb-Girdle Muscular Dystrophy, Type 2d:

64 (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:

6
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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Expression patterns in normal tissues for genes affiliated with Limb-Girdle Muscular Dystrophy, Type 2d

Search GEO for disease gene expression data for Limb-Girdle Muscular Dystrophy, Type 2d.

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
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Sources for Limb-Girdle Muscular Dystrophy, Type 2d

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet