DMDA2
MCID: LMB022
MIFTS: 20

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

Neuronal, Muscle categories

Summaries for Limb-Girdle Muscular Dystrophy, Type 2d

Sources:
47OMIM, 33MalaCards
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MalaCards: Limb-Girdle Muscular Dystrophy, Type 2d, also known as alpha-sarcoglycanopathy, is related to limb-girdle muscular dystrophy and bethlem myopathy. An important gene associated with Limb-Girdle Muscular Dystrophy, Type 2d is SGCA (sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)).

Description from OMIM:47 608099

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

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 49Orphanet, 61UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal, Muscle


Characteristics (Orphanet epidemiological data):

49
alpha-sarcoglycanopathy:
Inheritance: Autosomal recessive; Age of onset: Childhood


Aliases & Descriptions:

limb-girdle muscular dystrophy, type 2d 43 22
alpha-sarcoglycanopathy 43 20 49
muscular dystrophy, limb-girdle, type 2d 47 61
lgmd2d 43 49
limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency 49
duchenne-like autosomal recessive muscular dystrophy, type 2 43
autosomal recessive limb-girdle muscular dystrophy type 2d 49
muscular dystrophy limb-girdle with alpha-sarcoglycan 43
dmda2 43


External Ids:

OMIM47 608099
ICD10 via Orphanet26 G71.0

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

Sources:
17GeneCards, 18GeneDecks
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Clinical Features for Limb-Girdle Muscular Dystrophy, Type 2d

Sources:
47OMIM
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Clinical features from OMIM:

608099

Clinical synopsis from OMIM:

608099

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

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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

Sources:
20GeneTests, 22GTR
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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

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

Sources:
28inGenious Targeting Laboratory
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Publications for Limb-Girdle Muscular Dystrophy, Type 2d

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

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Limb-Girdle Muscular Dystrophy, Type 2d:

63 (show all 27)
id Symbol AA change Variation 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

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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

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

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

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Limb-Girdle Muscular Dystrophy, Type 2d

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet