MCID: MSC123
MIFTS: 30

Muscular Dystrophy, Limb-Girdle, Type 2d malady

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

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

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

Name: Muscular Dystrophy, Limb-Girdle, Type 2d 49 11
Lgmd2d 45 22 67
Severe Childhood Autosomal Recessive Muscular Dystrophy 67 65
Limb-Girdle Muscular Dystrophy 2d 67 24
Alpha-Sarcoglycanopathy 45 22
Dmda2 45 67
Severe Autosomal Recessive Muscular Dystrophy of Childhood - North African Type 65
Duchenne-Like Autosomal Recessive Muscular Dystrophy, Type 2 45
 
Duchenne-Like Muscular Dystrophy Autosomal Recessive Type 2 67
Muscular Dystrophy Limb-Girdle with Alpha-Sarcoglycan 45
Limb-Girdle Muscular Dystrophy, Type 2d 45
Alpha-Sarcoglycanopathies 65
Adhalinopathy, Primary 11
Adhalinopathy Primary 67
Scarmd 67
Adl 22

Characteristics:

HPO:

61
muscular dystrophy, limb-girdle, type 2d:
Inheritance: autosomal recessive inheritance
Onset and clinical course: juvenile onset, progressive, variable expressivity


Classifications:



External Ids:

OMIM49 608099
MedGen34 C1842550
MeSH36 D049288
UMLS65 C2936332, C0410173, C0456702

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

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OMIM:49 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 autosomal recessive limb-girdle muscular dystrophy type 2d and muscular dystrophy, limb-girdle, type 2c, 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:67 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 Dystrophy Type 1d
Limb-Girdle Muscular Dystrophies, Autosomal Dominant Limb-Girdle Muscular Dystrophies, Autosomal Recessive
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2r
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2u Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g

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

(show all 15)
idRelated DiseaseScoreTop Affiliating Genes
1autosomal recessive limb-girdle muscular dystrophy type 2d12.8
2muscular dystrophy, limb-girdle, type 2c11.5
3mood disorder10.5
4attention deficit-hyperactivity disorder10.5
5bursitis10.5
6lynch syndrome10.5
7prostate cancer10.2
8obesity10.2
9atherosclerosis10.2
10leukemia10.2
11dementia10.2
12prostatitis10.2
13hidradenoma10.2
14clear cell hidradenoma10.2
15plasma cell leukemia10.2

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 Alpha-Sarcoglycanopathy22 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:

67 (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:

5 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1SGCANM_000023.3(SGCA): c.739G> A (p.Val247Met)single nucleotide variantPathogenicrs143570936GRCh38Chr 17, 50169246: 50169246
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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet