LGMD2D
MCID: MSC123
MIFTS: 43

Muscular Dystrophy, Limb-Girdle, Type 2d (LGMD2D) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Muscle 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 52 11 12
Lgmd2d 11 48 24 54 70
Alpha-Sarcoglycanopathy 11 48 24 54
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d 11 54 13
Dmda2 11 48 70
Severe Childhood Autosomal Recessive Muscular Dystrophy 70 68
Limb-Girdle Muscular Dystrophy 2d 70 27
Severe Autosomal Recessive Muscular Dystrophy of Childhood - North African Type 68
Limb-Girdle Muscular Dystrophy Due to Alpha-Sarcoglycan Deficiency 54
Duchenne-Like Autosomal Recessive Muscular Dystrophy, Type 2 48
 
Duchenne-Like Muscular Dystrophy Autosomal Recessive Type 2 70
Duchenne-Like Autosomal Recessive Muscular Dystrophy Type 2 11
Muscular Dystrophy Limb-Girdle with Alpha-Sarcoglycan 48
Limb-Girdle Muscular Dystrophy, Type 2d 48
Alpha-Sarcoglycanopathies 68
Adhalinopathy, Primary 12
Adhalinopathy Primary 70
Primary Adhalinopathy 11
Scarmd 70
Adl 24

Characteristics:

Orphanet epidemiological data:

54
lgmd2d:
Inheritance: Autosomal recessive; Age of onset: Adolescent,Childhood

HPO:

64
muscular dystrophy, limb-girdle, type 2d:
Inheritance: autosomal recessive inheritance
Onset and clinical course: juvenile onset, progressive, variable expressivity

Classifications:



External Ids:

OMIM52 608099
Disease Ontology11 DOID:0110278
ICD1030 G71.0
Orphanet54 ORPHA62
ICD10 via Orphanet31 G71.0
UMLS via Orphanet69 C1842550, C2936332
MedGen37 C1842550
MeSH39 D049288

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

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OMIM:52 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 muscular dystrophy, limb-girdle, type 2a, and has symptoms including flexion contracture, cardiomyopathy and unsteady gait. An important gene associated with Muscular Dystrophy, Limb-Girdle, Type 2d is SGCA (Sarcoglycan Alpha), and among its related pathways are Allograft rejection and Dilated cardiomyopathy. Related mouse phenotypes are cardiovascular system and homeostasis/metabolism.

UniProtKB/Swiss-Prot:70 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.

Disease Ontology:11 An autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous or compound heterozygous mutation in the alpha-sarcoglycan gene (SGCA; 600119) on chromosome 17q.

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 Autosomal Dominant Limb-Girdle Muscular Dystrophy
Autosomal Recessive Limb-Girdle Muscular Dystrophy Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z
Limb-Girdle Muscular Dystrophy 2z

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

(show top 50)    (show all 56)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy, limb-girdle, type 2c11.1
2muscular dystrophy, limb-girdle, type 2a10.8
3sarcoglycanopathies10.3
4muscular dystrophy10.1
5craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies10.0CAPN3, DYSF
6ehlers-danlos syndrome, kyphoscoliotic form10.0CAPN3, DYSF
7lyme disease10.0CAPN3, DYSF
8sporadic hemiplegic migraine10.0CAPN3, FKRP
9prosthetic joint infection10.0FKRP, SGCA
10myopathy, early-onset, with fatal cardiomyopathy10.0CAPN3, FKRP
11ullrich congenital muscular dystrophy 110.0CAPN3, DYSF
12vulvar eccrine adenocarcinoma9.9CAPN3, DYSF
13myopathy, spheroid body9.9CAPN3, FKRP
14rippling muscle disease9.9DYSF, FKRP
15osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures9.9DYSF, FKRP
16myasthenia gravis, limb-girdle9.9FKRP, SGCA
17deafness, autosomal recessive 18b9.9DYSF, FKRP
18cerebral hemorrhage9.9CAPN3, DYSF, SGCB
19duchenne muscular dystrophy9.8
20calpainopathy9.8
21myoglobinuria9.8
22myopathy9.8
23limb-girdle muscular dystrophy9.8
24apraxia9.8
25dementia9.8
26autosomal dominant nonsyndromic deafness9.8FKRP, SGCA
27thrombocytopenia, x-linked9.8DYSF, FKRP, SGCA
28congenital heart defects, multiple types, 39.8CAPN3, DYSF, FKRP
29autosomal dominant limb-girdle muscular dystrophy type 1c9.7CAPN3, DYSF, FKRP
30neurodegeneration with brain iron accumulation 69.7CAPN3, DYSF, FKRP
31charcot-marie-tooth disease, type 2b29.7CAPN3, DYSF, FKRP
32cerebral palsy9.7
33leukemia9.7
34lymphedema9.7
35myasthenia gravis9.7
36temporal lobe epilepsy9.7
37hemiplegia9.7
38epilepsy9.7
39arteriosclerosis9.7
40mood disorder9.7
41cerebritis9.7
42arteriosclerosis obliterans9.7
43chronic neutrophilic leukemia9.7
44emery-dreifuss muscular dystrophy, dominant type9.7FKRP, SGCA, SGCD
45autosomal recessive limb-girdle muscular dystrophy type 2w9.6CAPN3, DYSF, FKRP, SGCA
46pancreatic agenesis 19.6CAPN3, DYSF, SGCA, SGCD, SGCG
47malignant hyperthermia susceptibility9.6CAPN3, DYSF, SGCA, SGCB, SGCG
48sdhc-related paraganglioma and gastric stromal sarcoma9.6DYSF, SGCA, SGCB, SGCD, SGCG
49spinocerebellar ataxia 119.5CAPN3, DYSF, FKRP, SGCA, SGCG
50myopathy, distal, with anterior tibial onset9.4CAPN3, DYSF, FKRP, SGCA, SGCB

Graphical network of the top 20 diseases related to Muscular Dystrophy, Limb-Girdle, Type 2d:



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

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

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Symptoms by clinical synopsis from OMIM:

608099

Clinical features from OMIM:

608099

Human phenotypes related to Muscular Dystrophy, Limb-Girdle, Type 2d:

 64 (show all 10)
id Description HPO Frequency HPO Source Accession
1 flexion contracture64 HP:0001371
2 cardiomyopathy64 HP:0001638
3 unsteady gait64 HP:0002317
4 scoliosis64 HP:0002650
5 elevated serum creatine phosphokinase64 HP:0003236
6 limb-girdle muscle weakness64 HP:0003325
7 emg64 HP:0003458
8 limb-girdle muscle atrophy64 HP:0003797
9 limb-girdle muscular dystrophy64 HP:0006785
10 calf muscle hypertrophy64 HP:0008981

MGI Mouse Phenotypes related to Muscular Dystrophy, Limb-Girdle, Type 2d according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053859.0CAPN3, SGCA, SGCB, SGCD, SGCG
2MP:00053768.0CAPN3, DYSF, FKRP, SGCA, SGCD, SGCG
3MP:00053696.7CAPN3, DYSF, FKRP, SGCA, SGCB, SGCD

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 2d27
2 Alpha-Sarcoglycanopathy24 SGCA

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

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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:

70 (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 33)
id Gene Variation Type Significance SNP ID Assembly Location
1SGCANM_ 000023.3(SGCA): c.739G> A (p.Val247Met)SNVPathogenicrs143570936GRCh37Chr 17, 48246607: 48246607
2SGCANM_ 000023.3(SGCA): c.371T> C (p.Ile124Thr)SNVPathogenic/ Likely pathogenicrs768814872GRCh38Chr 17, 50168005: 50168005
3SGCANM_ 000023.3(SGCA): c.220C> T (p.Arg74Trp)SNVLikely pathogenicrs757888349GRCh37Chr 17, 48245005: 48245005
4SGCANM_ 000023.3(SGCA): c.530delC (p.Ser177Leufs)deletionPathogenicrs886041387GRCh37Chr 17, 48245879: 48245879
5SGCANM_ 000023.3(SGCA): c.518T> C (p.Leu173Pro)SNVPathogenicrs143962150GRCh37Chr 17, 48245867: 48245867
6SGCANM_ 000023.3(SGCA): c.307A> G (p.Ile103Val)SNVLikely pathogenicrs370819630GRCh38Chr 17, 50167731: 50167731
7SGCANM_ 000023.3(SGCA): c.292C> T (p.Arg98Cys)SNVLikely pathogenicrs138945081GRCh37Chr 17, 48245077: 48245077
8SGCANM_ 000023.3(SGCA): c.403C> T (p.Gln135Ter)SNVPathogenicrs886043221GRCh37Chr 17, 48245752: 48245752
9SGCANM_ 000023.3(SGCA): c.409G> A (p.Glu137Lys)SNVPathogenicrs372210292GRCh37Chr 17, 48245758: 48245758
10SGCANM_ 000023.3(SGCA): c.747+1G> ASNVPathogenicrs886043392GRCh37Chr 17, 48246616: 48246616
11SGCANM_ 000023.3(SGCA): c.770delC (p.Pro257Leufs)deletionPathogenicrs886043962GRCh37Chr 17, 48247526: 48247526
12SGCANM_ 000023.3(SGCA): c.489delA (p.Leu164Serfs)deletionPathogenic/ Likely pathogenicrs753650776GRCh37Chr 17, 48245838: 48245838
13SGCANM_ 000023.3(SGCA): c.161delT (p.Val54Alafs)deletionPathogenicrs886044516GRCh37Chr 17, 48244946: 48244946
14SGCANM_ 000023.3(SGCA): c.183dupC (p.Tyr62Leufs)duplicationPathogenicrs886044688GRCh37Chr 17, 48244968: 48244968
15SGCANM_ 000023.3(SGCA): c.511C> T (p.Gln171Ter)SNVLikely pathogenicrs1057516242GRCh38Chr 17, 50168499: 50168499
16SGCANM_ 000023.3(SGCA): c.488dupG (p.Leu164Thrfs)duplicationLikely pathogenicrs1057516244GRCh38Chr 17, 50168476: 50168476
17SGCANM_ 000023.3(SGCA): c.158-2A> GSNVLikely pathogenicrs1057516300GRCh38Chr 17, 50167580: 50167580
18SGCANM_ 000023.3(SGCA): c.755delA (p.Lys252Serfs)deletionLikely pathogenicrs1057516548GRCh38Chr 17, 50170150: 50170150
19SGCANM_ 000023.3(SGCA): c.313-2A> GSNVLikely pathogenicrs1057516650GRCh37Chr 17, 48245306: 48245306
20SGCANM_ 000023.3(SGCA): c.580G> T (p.Glu194Ter)SNVLikely pathogenicrs1057516664GRCh38Chr 17, 50168568: 50168568
21SGCANM_ 000023.3(SGCA): c.846_ 847delAGinsT (p.Asp283Thrfs)indelLikely pathogenicrs1057516729GRCh38Chr 17, 50170241: 50170242
22SGCANM_ 000023.3(SGCA): c.559delC (p.Leu187Phefs)deletionLikely pathogenicrs1057516888GRCh38Chr 17, 50168547: 50168547
23SGCANM_ 000023.3(SGCA): c.-1_ 9delCATGGCTGAGdeletionLikely pathogenicrs1057517107GRCh37Chr 17, 48243401: 48243410
24SGCANM_ 000023.3(SGCA): c.480_ 481delCT (p.Leu161Glyfs)deletionLikely pathogenicrs1057517142GRCh37Chr 17, 48245829: 48245830
25SGCANM_ 000023.3(SGCA): c.754_ 755delAA (p.Lys252Valfs)deletionLikely pathogenicrs1057517377GRCh37Chr 17, 48247510: 48247511
26SGCANM_ 000023.3(SGCA): c.574C> T (p.Arg192Ter)SNVPathogenicrs387907298GRCh37Chr 17, 48245923: 48245923
27SGCANM_ 000023.3(SGCA): c.101G> A (p.Arg34His)SNVPathogenic/ Likely pathogenicrs371675217GRCh37Chr 17, 48244792: 48244792
28SGCANM_ 000023.3(SGCA): c.293G> A (p.Arg98His)SNVPathogenic/ Likely pathogenicrs137852621GRCh37Chr 17, 48245078: 48245078
29SGCANM_ 000023.3(SGCA): c.524T> C (p.Val175Ala)SNVPathogenicrs137852622GRCh37Chr 17, 48245873: 48245873
30SGCANM_ 000023.3(SGCA): c.229C> T (p.Arg77Cys)SNVPathogenicrs28933693GRCh37Chr 17, 48245014: 48245014
31SGCANM_ 000023.3(SGCA): c.410A> G (p.Glu137Gly)SNVPathogenicrs397514451GRCh37Chr 17, 48245759: 48245759
32SGCANM_ 000023.3(SGCA): c.850C> T (p.Arg284Cys)SNVPathogenic/ Likely pathogenicrs137852623GRCh37Chr 17, 48247606: 48247606
33SGCASGCA, 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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Cellular components related to Muscular Dystrophy, Limb-Girdle, Type 2d according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cytoskeletonGO:00058569.4SGCA, SGCB, SGCD, SGCG
2dystroglycan complexGO:00160119.4SGCA, SGCB, SGCD, SGCG
3T-tubuleGO:00303159.4CAPN3, DYSF
4sarcoglycan complexGO:00160129.2SGCA, SGCB, SGCD, SGCG
5dystrophin-associated glycoprotein complexGO:00160109.0FKRP, SGCA, SGCB, SGCD
6sarcolemmaGO:00423837.6DYSF, FKRP, SGCA, SGCB, SGCD, SGCG
7plasma membraneGO:00058867.3CAPN3, DYSF, FKRP, SGCA, SGCB, SGCD

Biological processes related to Muscular Dystrophy, Limb-Girdle, Type 2d according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cardiac muscle tissue developmentGO:004873810.2SGCD, SGCG
2heart contractionGO:006004710.2SGCD, SGCG
3muscle cell developmentGO:005500110.1SGCD, SGCG
4muscle contractionGO:000693610.0DYSF, SGCA
5membrane organizationGO:00610249.2SGCA, SGCB, SGCD, SGCG
6muscle organ developmentGO:00075178.2CAPN3, SGCA, SGCB, SGCD, SGCG

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

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet