MCID: MSC123
MIFTS: 32

Muscular Dystrophy, Limb-Girdle, Type 2d malady

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

Summaries for Muscular Dystrophy, Limb-Girdle, Type 2d

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OMIM:47 LGMD2D is an autosomal recessive form of muscular dystrophy mainly affecting the proximal muscles and resulting in... (608099) more...

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

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

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Sources:
47OMIM, 11diseasecard, 43NIH Rare Diseases, 24GTR, 22GeneTests, 49Orphanet, 28ICD10 via Orphanet, 63UMLS via Orphanet
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Muscular Dystrophy, Limb-Girdle, Type 2d, Aliases & Descriptions:

Name: Muscular Dystrophy, Limb-Girdle, Type 2d 47 11
Alpha-Sarcoglycanopathy 43 22 49
Limb-Girdle Muscular Dystrophy Due to Alpha-Sarcoglycan Deficiency 43 49
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d 43 49
Limb-Girdle Muscular Dystrophy, Type 2d 43 24
 
Lgmd2d 43 49
Duchenne-Like Autosomal Recessive Muscular Dystrophy, Type 2 43
Muscular Dystrophy Limb-Girdle with Alpha-Sarcoglycan 43
Dmda2 43


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

OMIM47 608099
Orphanet49 62
ICD10 via Orphanet28 G71.0
UMLS via Orphanet63 C1842550, C2936332

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

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Diseases in the Limb-Girdle Muscular Dystrophy family:

Muscular Dystrophy, Limb-Girdle, Type 1b Muscular Dystrophy, Limb-Girdle, Type 2b
Muscular Dystrophy, Limb-Girdle, Type 2j Muscular Dystrophy, Limb-Girdle, Type 2r
Muscular Dystrophy, Limb-Girdle, Type 1h Muscular Dystrophy, Limb-Girdle, Type 2e
Limb-Girdle Muscular Dystrophy, Type 1g Muscular Dystrophy, Limb-Girdle, Type 1a
Muscular Dystrophy, Limb-Girdle, Type 2f Muscular Dystrophy, Limb-Girdle, Type 1f
Muscular Dystrophy, Limb-Girdle, Type 1e Muscular Dystrophy, Limb-Girdle, Type 2q
Muscular Dystrophy, Limb-Girdle, Type 2h Muscular Dystrophy, Limb-Girdle, Type 2l
Muscular Dystrophy, Limb-Girdle, Type 2c Muscular Dystrophy, Limb-Girdle, Type 2a
Muscular Dystrophy, Limb-Girdle, Type 2g muscular dystrophy, limb-girdle, type 2d
Muscular Dystrophy, Limb-Girdle, Type Ic Limb-Girdle Muscular Dystrophies, Autosomal Dominant
Limb-Girdle Muscular Dystrophy Type 1d Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2p
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2m Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2o Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2n
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1h Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2t
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1f Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2i Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1d
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1e Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2k

Diseases related to Muscular Dystrophy, Limb-Girdle, Type 2d via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1limb-girdle muscular dystrophy10.6
2muscular dystrophy10.6
3sarcoglycanopathies10.5
4bethlem myopathy10.2
5calpainopathy10.2
6myopathy10.2
7muscular dystrophy, limb-girdle, type 2a10.1

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



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

Symptoms for Muscular Dystrophy, Limb-Girdle, Type 2d

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Symptoms by clinical synopsis from OMIM:

608099

Clinical features from OMIM:

608099

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

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Drug clinical trials:

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

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

id Genetic test Affiliating Genes
1 Alpha-Sarcoglycanopathy22 SGCA
2 Limb-Girdle Muscular Dystrophy, Type 2d24

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

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

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Publications for Muscular Dystrophy, Limb-Girdle, Type 2d

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

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

7
id Gene Variation 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 Muscular Dystrophy, Limb-Girdle, Type 2d

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

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

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

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

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

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Sources for Muscular Dystrophy, Limb-Girdle, Type 2d

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet