DMDA2
MCID: LMB022
MIFTS: 31

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

Neuronal diseases, Muscle diseases categories

Summaries for Limb-Girdle Muscular Dystrophy, Type 2d

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46OMIM, 32MalaCards
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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:46 608099

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

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Sources:
42NIH Rare Diseases, 22GTR, 20GeneTests, 48Orphanet, 46OMIM, 60UMLS, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

limb-girdle muscular dystrophy, type 2d 42 22
alpha-sarcoglycanopathy 42 20 48
muscular dystrophy, limb-girdle, type 2d 46 60
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


External Ids:

OMIM46 608099
ICD10 via Orphanet26 G71.0

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

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17GeneCards, 18GeneDecks
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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

Clinical Features for Limb-Girdle Muscular Dystrophy, Type 2d

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46OMIM
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Clinical features from OMIM:

608099

Clinical synopsis from OMIM:

608099

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

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Sources:
5CenterWatch, 41NIH 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

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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

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

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Limb-Girdle Muscular Dystrophy, Type 2d:

62 (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

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

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1BioGPS, 15Gene 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
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet