MCID: MSC123
MIFTS: 30

Muscular Dystrophy, Limb-Girdle, Type 2d malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases

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

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Sources:
50OMIM, 12diseasecard, 46NIH Rare Diseases, 23GeneTests, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 66UMLS, 29ICD10 via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

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

Name: Muscular Dystrophy, Limb-Girdle, Type 2d 50 12
Lgmd2d 46 23 52 68
Alpha-Sarcoglycanopathy 46 23 52
Limb-Girdle Muscular Dystrophy 2d 68 25
Dmda2 46 68
Limb-Girdle Muscular Dystrophy Due to Alpha-Sarcoglycan Deficiency 52
Duchenne-Like Autosomal Recessive Muscular Dystrophy, Type 2 46
Duchenne-Like Muscular Dystrophy Autosomal Recessive Type 2 68
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d 52
 
Severe Childhood Autosomal Recessive Muscular Dystrophy 68
Muscular Dystrophy Limb-Girdle with Alpha-Sarcoglycan 46
Limb-Girdle Muscular Dystrophy, Type 2d 46
Alpha-Sarcoglycanopathies 66
Adhalinopathy, Primary 12
Adhalinopathy Primary 68
Scarmd 68
Adl 23

Characteristics:

Orphanet epidemiological data:

52
lgmd2d:
Inheritance: Autosomal recessive; Age of onset: Adolescent,Childhood

HPO:

62
muscular dystrophy, limb-girdle, type 2d:
Inheritance: autosomal recessive inheritance
Onset and clinical course: juvenile onset, progressive, variable expressivity


Classifications:



External Ids:

OMIM50 608099
Orphanet52 ORPHA62
ICD10 via Orphanet29 G71.0
UMLS via Orphanet67 C1842550, C2936332
MedGen35 C1842550
MeSH37 D049288

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

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OMIM:50 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 lgmd2d, is related to muscular dystrophy, limb-girdle, type 2c and limb-girdle muscular dystrophy, and has symptoms including scoliosis, cardiomyopathy and flexion contracture. An important gene associated with Muscular Dystrophy, Limb-Girdle, Type 2d is SGCA (Sarcoglycan Alpha).

UniProtKB/Swiss-Prot:68 Limb-girdle muscular dystrophy 2D: An autosomal recessive degenerative myopathy characterized by progressive muscle wasting from early childhood with loss of independent ambulation by teenage years. Muscle biopsy shows necrosis, decreased immunostaining for alpha sarcoglycan, and adhalin deficiency.

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 Ic 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 Limb-Girdle Muscular Dystrophies, Autosomal Dominant
Limb-Girdle Muscular Dystrophies, Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 1d
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1e Limb-Girdle Muscular Dystrophy 2x

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

(show all 17)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy, limb-girdle, type 2c11.1
2limb-girdle muscular dystrophy10.5
3muscular dystrophy10.5
4sarcoglycanopathies10.4
5apraxia10.0
6dementia10.0
7cerebral palsy9.8
8leukemia9.8
9lymphedema9.8
10temporal lobe epilepsy9.8
11hemiplegia9.8
12epilepsy9.8
13arteriosclerosis9.8
14mood disorder9.8
15cerebritis9.8
16arteriosclerosis obliterans9.8
17chronic neutrophilic leukemia9.8

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 10)
id Description Frequency HPO Source Accession
1 scoliosis occasional (7.5%) HP:0002650
2 cardiomyopathy rare (5%) HP:0001638
3 flexion contracture HP:0001371
4 unsteady gait HP:0002317
5 elevated serum creatine phosphokinase HP:0003236
6 limb-girdle muscle weakness HP:0003325
7 emg HP:0003458
8 limb-girdle muscle atrophy HP:0003797
9 limb-girdle muscular dystrophy HP:0006785
10 calf muscle hypertrophy HP:0008981

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

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Gene Transfer Clinical Trial for LGMD2D (Alpha-sarcoglycan Deficiency) Using scAAVrh74.tMCK.hSGCAEnrolling by invitationNCT01976091Phase 1, Phase 2
2Gene Transfer Therapy for Treating Children and Adults With Limb Girdle Muscular Dystrophy Type 2D (LGMD2D)CompletedNCT00494195Phase 1

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

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 Limb-Girdle Muscular Dystrophy, Type 2d25
2 Alpha-Sarcoglycanopathy23 SGCA

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:

68 (show all 27)
id Symbol AA change Variation ID SNP ID
1SGCAp.Arg77CysVAR_010387rs28933693
2SGCAp.Arg98HisVAR_010388rs137852621
3SGCAp.Val175AlaVAR_010389rs137852622
4SGCAp.Arg284CysVAR_010390rs137852623
5SGCAp.Pro30LeuVAR_010402
6SGCAp.Leu31ProVAR_010403
7SGCAp.Arg34CysVAR_010404rs758647756
8SGCAp.Arg34HisVAR_010405rs371675217
9SGCAp.Tyr62HisVAR_010406
10SGCAp.Gly68GluVAR_010407
11SGCAp.Arg74TrpVAR_010408rs757888349
12SGCAp.Leu89ProVAR_010409
13SGCAp.Gly91ArgVAR_010410
14SGCAp.Ala93ValVAR_010411
15SGCAp.Asp97GlyVAR_010412
16SGCAp.Arg98CysVAR_010413rs138945081
17SGCAp.Ile103ThrVAR_010414
18SGCAp.Ile124ThrVAR_010415rs768814872
19SGCAp.Glu137LysVAR_010416rs372210292
20SGCAp.Leu158PheVAR_010417
21SGCAp.Val196IleVAR_010418
22SGCAp.Pro205HisVAR_010419rs757481230
23SGCAp.Val242AlaVAR_010420
24SGCAp.Leu173ProVAR_010431rs143962150
25SGCAp.Pro228GlnVAR_010432
26SGCAp.Val247MetVAR_010433rs143570936
27SGCAp.Glu137GlyVAR_037966rs28933694

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

5 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1SGCANM_000023.3(SGCA): c.739G> A (p.Val247Met)single nucleotide variantPathogenicrs143570936GRCh37Chr 17, 48246607: 48246607
2SGCANM_000023.3(SGCA): c.371T> C (p.Ile124Thr)single nucleotide variantLikely pathogenic, Pathogenicrs768814872GRCh37Chr 17, 48245366: 48245366
3SGCANM_000023.3(SGCA): c.220C> T (p.Arg74Trp)single nucleotide variantLikely pathogenicrs757888349GRCh37Chr 17, 48245005: 48245005
4SGCANM_000023.3(SGCA): c.100C> T (p.Arg34Cys)single nucleotide variantPathogenicrs758647756GRCh38Chr 17, 50167430: 50167430
5SGCANM_000023.3(SGCA): c.574C> T (p.Arg192Ter)single nucleotide variantPathogenicrs387907298GRCh37Chr 17, 48245923: 48245923
6SGCANM_000023.3(SGCA): c.101G> A (p.Arg34His)single nucleotide variantLikely pathogenic, Pathogenicrs371675217GRCh37Chr 17, 48244792: 48244792
7SGCANM_000023.3(SGCA): c.293G> A (p.Arg98His)single nucleotide variantLikely pathogenic, Pathogenicrs137852621GRCh37Chr 17, 48245078: 48245078
8SGCANM_000023.3(SGCA): c.524T> C (p.Val175Ala)single nucleotide variantPathogenicrs137852622GRCh37Chr 17, 48245873: 48245873
9SGCANM_000023.3(SGCA): c.229C> T (p.Arg77Cys)single nucleotide variantPathogenicrs28933693GRCh37Chr 17, 48245014: 48245014
10SGCANM_000023.3(SGCA): c.410A> G (p.Glu137Gly)single nucleotide variantPathogenicrs397514451GRCh37Chr 17, 48245759: 48245759
11SGCANM_000023.3(SGCA): c.850C> T (p.Arg284Cys)single nucleotide variantLikely pathogenic, Pathogenicrs137852623GRCh37Chr 17, 48247606: 48247606
12SGCASGCA, 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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GO Terms 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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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet