MCID: MSC123
MIFTS: 37

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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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
Dmda2 11 48 70
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d 11 54
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 scoliosis, cardiomyopathy and flexion contracture. An important gene associated with Muscular Dystrophy, Limb-Girdle, Type 2d is SGCA (Sarcoglycan Alpha), and among its related pathways is Allograft rejection.

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.

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.

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 2f
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x

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

(show all 27)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy, limb-girdle, type 2c11.1
2muscular dystrophy, limb-girdle, type 2a10.8
3sarcoglycanopathies10.3
4muscular dystrophy10.1
5duchenne muscular dystrophy9.8
6calpainopathy9.8
7myoglobinuria9.8
8myopathy9.8
9limb-girdle muscular dystrophy9.8
10apraxia9.8
11dementia9.8
12cerebral palsy9.7
13leukemia9.7
14lymphedema9.7
15myasthenia gravis9.7
16temporal lobe epilepsy9.7
17hemiplegia9.7
18epilepsy9.7
19arteriosclerosis9.7
20mood disorder9.7
21cerebritis9.7
22arteriosclerosis obliterans9.7
23chronic neutrophilic leukemia9.7
24schindler disease9.5SGCA, SGCG
25median arcuate ligament syndrome9.5SGCA, SGCG
26classic variant of chromophobe renal cell carcinoma9.5SGCA, SGCG
27emery-dreifuss muscular dystrophy9.3SGCA, SGCG

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 scoliosis64 occasional (7.5%) HP:0002650
2 cardiomyopathy64 rare (5%) HP:0001638
3 flexion contracture64 HP:0001371
4 unsteady gait64 HP:0002317
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

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 53)
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)SNVLikely pathogenic, Pathogenicrs768814872GRCh38Chr 17, 50168005: 50168005
3SGCANM_000023.3(SGCA): c.220C> T (p.Arg74Trp)SNVLikely pathogenicrs757888349GRCh37Chr 17, 48245005: 48245005
4SGCGNM_000231.2(SGCG): c.525delT (p.Phe175Leufs)deletionPathogenicrs786204786GRCh37Chr 13, 23869573: 23869573
5SGCGNM_000231.2(SGCG): c.735dupC (p.Lys246Glnfs)duplicationPathogenicrs797044783GRCh37Chr 13, 23898539: 23898539
6SGCGSGCG, 1-BP DEL, 525TdeletionPathogenicChr na, -1: -1
7SGCGSGCG, 2-BP DEL, 801TCdeletionPathogenicChr na, -1: -1
8SGCGNM_000231.2(SGCG): c.848G> A (p.Cys283Tyr)SNVPathogenicrs104894422GRCh37Chr 13, 23898652: 23898652
9SGCGSGCG, 2-BP DEL, 793TGdeletionPathogenicChr na, -1: -1
10SGCGSGCG, 1-BP INS, 87TinsertionPathogenicChr na, -1: -1
11SGCGNM_000231.2(SGCG): c.787G> A (p.Glu263Lys)SNVPathogenicrs104894423GRCh37Chr 13, 23898591: 23898591
12SGCGNM_000231.2(SGCG): c.195+4_195+7delAGTAdeletionLikely pathogenic, Pathogenicrs797045106GRCh38Chr 13, 23203893: 23203896
13SGCANM_000023.3(SGCA): c.100C> T (p.Arg34Cys)SNVPathogenicrs758647756GRCh38Chr 17, 50167430: 50167430
14SGCGNM_000231.2(SGCG): c.690T> A (p.Ser230Arg)SNVPathogenicrs875989949GRCh37Chr 13, 23894887: 23894887
15SGCANM_000023.3(SGCA): c.530delC (p.Ser177Leufs)deletionPathogenicrs886041387GRCh37Chr 17, 48245879: 48245879
16SGCANM_000023.3(SGCA): c.518T> C (p.Leu173Pro)SNVPathogenicrs143962150GRCh37Chr 17, 48245867: 48245867
17SGCGNM_000231.2(SGCG): c.581T> C (p.Leu194Ser)SNVPathogenicrs547818652GRCh37Chr 13, 23894778: 23894778
18SGCGNM_000231.2(SGCG): c.452_458delTTACTGT (p.Phe151Terfs)deletionPathogenicrs886042540GRCh37Chr 13, 23853564: 23853570
19SGCGNM_000231.2(SGCG): c.195+1G> CSNVPathogenicrs200502077GRCh37Chr 13, 23778029: 23778029
20SGCGNM_000231.2(SGCG): c.752delC (p.Thr251Serfs)deletionPathogenicrs886042749GRCh37Chr 13, 23898556: 23898556
21SGCGNM_000231.2(SGCG): c.386-2A> GSNVPathogenicrs886042757GRCh37Chr 13, 23853496: 23853496
22SGCANM_000023.3(SGCA): c.307A> G (p.Ile103Val)SNVLikely pathogenicrs370819630GRCh38Chr 17, 50167731: 50167731
23SGCANM_000023.3(SGCA): c.292C> T (p.Arg98Cys)SNVLikely pathogenicrs138945081GRCh37Chr 17, 48245077: 48245077
24SGCANM_000023.3(SGCA): c.402C> G (p.Tyr134Ter)SNVPathogenicrs780264754GRCh37Chr 17, 48245751: 48245751
25SGCANM_000023.3(SGCA): c.403C> T (p.Gln135Ter)SNVPathogenicrs886043221GRCh37Chr 17, 48245752: 48245752
26SGCANM_000023.3(SGCA): c.409G> A (p.Glu137Lys)SNVPathogenicrs372210292GRCh37Chr 17, 48245758: 48245758
27SGCANM_000023.3(SGCA): c.747+1G> ASNVPathogenicrs886043392GRCh37Chr 17, 48246616: 48246616
28SGCGNM_000231.2(SGCG): c.599delG (p.Ser200Ilefs)deletionPathogenicrs886043860GRCh37Chr 13, 23894796: 23894796
29SGCANM_000023.3(SGCA): c.770delC (p.Pro257Leufs)deletionPathogenicrs886043962GRCh37Chr 17, 48247526: 48247526
30SGCGNM_000231.2(SGCG): c.158T> C (p.Leu53Pro)SNVPathogenicrs781760379GRCh37Chr 13, 23777991: 23777991
31SGCGNM_000231.2(SGCG): c.385+2T> GSNVPathogenicrs200206447GRCh37Chr 13, 23824858: 23824858
32SGCANM_000023.3(SGCA): c.489delA (p.Leu164Serfs)deletionLikely pathogenic, Pathogenicrs753650776GRCh37Chr 17, 48245838: 48245838
33SGCANM_000023.3(SGCA): c.161delT (p.Val54Alafs)deletionPathogenicrs886044516GRCh37Chr 17, 48244946: 48244946
34SGCANM_000023.3(SGCA): c.183dupC (p.Tyr62Leufs)duplicationPathogenicrs886044688GRCh37Chr 17, 48244968: 48244968
35SGCANM_000023.2: c.511C> TSNVLikely pathogenicChr na, -1: -1
36SGCANM_000023.2: c.488dupGduplicationLikely pathogenicChr na, -1: -1
37SGCANM_000023.2: c.158-2A> GSNVLikely pathogenicChr na, -1: -1
38SGCANM_000023.2: c.755delAdeletionLikely pathogenicChr na, -1: -1
39SGCANM_000023.2: c.313-2A> GSNVLikely pathogenicChr na, -1: -1
40SGCANM_000023.2: c.580G> TSNVLikely pathogenicChr na, -1: -1
41SGCANM_000023.2: c.846_847delAGinsTindelLikely pathogenicChr na, -1: -1
42SGCANM_000023.2: c.559delCdeletionLikely pathogenicChr na, -1: -1
43SGCANM_000023.2: c.-1_9del10deletionLikely pathogenicChr na, -1: -1
44SGCANM_000023.2: c.480_481delCTdeletionLikely pathogenicChr na, -1: -1
45SGCANM_000023.2: c.754_755delAAdeletionLikely pathogenicChr na, -1: -1
46SGCANM_000023.3(SGCA): c.574C> T (p.Arg192Ter)SNVPathogenicrs387907298GRCh37Chr 17, 48245923: 48245923
47SGCANM_000023.3(SGCA): c.101G> A (p.Arg34His)SNVLikely pathogenic, Pathogenicrs371675217GRCh37Chr 17, 48244792: 48244792
48SGCANM_000023.3(SGCA): c.293G> A (p.Arg98His)SNVLikely pathogenic, Pathogenicrs137852621GRCh37Chr 17, 48245078: 48245078
49SGCANM_000023.3(SGCA): c.524T> C (p.Val175Ala)SNVPathogenicrs137852622GRCh37Chr 17, 48245873: 48245873
50SGCANM_000023.3(SGCA): c.229C> T (p.Arg77Cys)SNVPathogenicrs28933693GRCh37Chr 17, 48245014: 48245014
51SGCANM_000023.3(SGCA): c.410A> G (p.Glu137Gly)SNVPathogenicrs397514451GRCh37Chr 17, 48245759: 48245759
52SGCANM_000023.3(SGCA): c.850C> T (p.Arg284Cys)SNVLikely pathogenic, Pathogenicrs137852623GRCh37Chr 17, 48247606: 48247606
53SGCASGCA, TYR134TERundetermined variantPathogenicChr na, -1: -1

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

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.1SGCA, SGCG

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:00058569.7SGCA, SGCG
2dystroglycan complexGO:00160119.7SGCA, SGCG
3sarcoglycan complexGO:00160129.6SGCA, SGCG
4sarcolemmaGO:00423839.1SGCA, SGCG

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

idNameGO IDScoreTop Affiliating Genes
1membrane organizationGO:00610249.7SGCA, SGCG
2muscle organ developmentGO:00075179.1SGCA, 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