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

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

Name: Muscular Dystrophy, Limb-Girdle, Type 2d 54 12 13
Lgmd2d 12 50 24 56 66
Alpha-Sarcoglycanopathy 12 50 24 56
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d 12 56 14
Dmda2 12 50 66
Severe Childhood Autosomal Recessive Muscular Dystrophy 66 69
Limb-Girdle Muscular Dystrophy 2d 66 29
Severe Autosomal Recessive Muscular Dystrophy of Childhood - North African Type 69
Limb-Girdle Muscular Dystrophy Due to Alpha-Sarcoglycan Deficiency 56
Duchenne-Like Autosomal Recessive Muscular Dystrophy, Type 2 50
Duchenne-Like Autosomal Recessive Muscular Dystrophy Type 2 12
Duchenne-Like Muscular Dystrophy Autosomal Recessive Type 2 66
Muscular Dystrophy Limb-Girdle with Alpha-Sarcoglycan 50
Limb-Girdle Muscular Dystrophy, Type 2d 50
Alpha-Sarcoglycanopathies 69
Adhalinopathy, Primary 13
Primary Adhalinopathy 12
Adhalinopathy Primary 66
Scarmd 66
Adl 24

Characteristics:

Orphanet epidemiological data:

56
autosomal recessive limb-girdle muscular dystrophy type 2d
Inheritance: Autosomal recessive; Age of onset: Adolescent,Childhood;

HPO:

32
muscular dystrophy, limb-girdle, type 2d:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset progressive variable expressivity


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 608099
Disease Ontology 12 DOID:0110278
ICD10 33 G71.0
Orphanet 56 ORPHA62
ICD10 via Orphanet 34 G71.0
UMLS via Orphanet 70 C1842550 C2936332
MedGen 40 C1842550
MeSH 42 D049288

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

OMIM : 54 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, flexion contracture and elevated serum creatine phosphokinase. An important gene associated with Muscular Dystrophy, Limb-Girdle, Type 2d is SGCA (Sarcoglycan Alpha), and among its related pathways/superpathways are Allograft rejection and Dilated cardiomyopathy. Related phenotypes are cardiovascular system and homeostasis/metabolism

UniProtKB/Swiss-Prot : 66 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 : 12 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

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)
id Related Disease Score Top Affiliating Genes
1 muscular dystrophy, limb-girdle, type 2c 11.1
2 muscular dystrophy, limb-girdle, type 2a 10.8
3 sarcoglycanopathies 10.3
4 muscular dystrophy 10.1
5 craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies 10.0 CAPN3 DYSF
6 ehlers-danlos syndrome, kyphoscoliotic form 10.0 CAPN3 DYSF
7 lyme disease 10.0 CAPN3 DYSF
8 sporadic hemiplegic migraine 10.0 CAPN3 FKRP
9 prosthetic joint infection 10.0 FKRP SGCA
10 myopathy, early-onset, with fatal cardiomyopathy 10.0 CAPN3 FKRP
11 ullrich congenital muscular dystrophy 1 10.0 CAPN3 DYSF
12 vulvar eccrine adenocarcinoma 9.9 CAPN3 DYSF
13 myopathy, spheroid body 9.9 CAPN3 FKRP
14 rippling muscle disease 9.9 DYSF FKRP
15 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures 9.9 DYSF FKRP
16 myasthenia gravis, limb-girdle 9.9 FKRP SGCA
17 deafness, autosomal recessive 18b 9.9 DYSF FKRP
18 cerebral hemorrhage 9.9 CAPN3 DYSF SGCB
19 limb-girdle muscular dystrophy 9.8
20 myoglobinuria 9.8
21 myopathy 9.8
22 duchenne muscular dystrophy 9.8
23 calpainopathy 9.8
24 apraxia 9.8
25 dementia 9.8
26 autosomal dominant nonsyndromic deafness 9.8 FKRP SGCA
27 thrombocytopenia, x-linked 9.8 DYSF FKRP SGCA
28 congenital heart defects, multiple types, 3 9.8 CAPN3 DYSF FKRP
29 autosomal dominant limb-girdle muscular dystrophy type 1c 9.7 CAPN3 DYSF FKRP
30 neurodegeneration with brain iron accumulation 6 9.7 CAPN3 DYSF FKRP
31 charcot-marie-tooth disease, type 2b2 9.7 CAPN3 DYSF FKRP
32 cerebral palsy 9.7
33 leukemia 9.7
34 chronic neutrophilic leukemia 9.7
35 lymphedema 9.7
36 myasthenia gravis 9.7
37 temporal lobe epilepsy 9.7
38 hemiplegia 9.7
39 epilepsy 9.7
40 arteriosclerosis 9.7
41 mood disorder 9.7
42 cerebritis 9.7
43 arteriosclerosis obliterans 9.7
44 emery-dreifuss muscular dystrophy, dominant type 9.7 FKRP SGCA SGCD
45 autosomal recessive limb-girdle muscular dystrophy type 2w 9.6 CAPN3 DYSF FKRP SGCA
46 pancreatic agenesis 1 9.6 CAPN3 DYSF SGCA SGCD SGCG
47 malignant hyperthermia susceptibility 9.6 CAPN3 DYSF SGCA SGCB SGCG
48 sdhc-related paraganglioma and gastric stromal sarcoma 9.6 DYSF SGCA SGCB SGCD SGCG
49 spinocerebellar ataxia 11 9.5 CAPN3 DYSF FKRP SGCA SGCG
50 myopathy, distal, with anterior tibial onset 9.4 CAPN3 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

Symptoms by clinical synopsis from OMIM:

608099

Clinical features from OMIM:

608099

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

32 (show all 10)
id Description HPO Frequency HPO Source Accession
1 scoliosis 32 HP:0002650
2 flexion contracture 32 HP:0001371
3 elevated serum creatine phosphokinase 32 HP:0003236
4 cardiomyopathy 32 HP:0001638
5 unsteady gait 32 HP:0002317
6 calf muscle hypertrophy 32 HP:0008981
7 limb-girdle muscular dystrophy 32 HP:0006785
8 limb-girdle muscle weakness 32 HP:0003325
9 emg 32 HP:0003458
10 limb-girdle muscle atrophy 32 HP:0003797

MGI Mouse Phenotypes related to Muscular Dystrophy, Limb-Girdle, Type 2d:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.55 SGCA SGCB SGCD SGCG CAPN3
2 homeostasis/metabolism MP:0005376 9.43 CAPN3 DYSF FKRP SGCA SGCD SGCG
3 muscle MP:0005369 9.17 CAPN3 DYSF FKRP SGCA SGCB SGCD

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

Interventional clinical trials:


id Name Status NCT ID Phase
1 Gene Transfer Clinical Trial for LGMD2D (Alpha-sarcoglycan Deficiency) Using scAAVrh74.tMCK.hSGCA Enrolling by invitation NCT01976091 Phase 1, Phase 2
2 Gene Transfer Therapy for Treating Children and Adults With Limb Girdle Muscular Dystrophy Type 2D (LGMD2D) Completed NCT00494195 Phase 1

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

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

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

id Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy, Type 2d 29
2 Alpha-Sarcoglycanopathy 24 SGCA

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

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

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

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

66 (show all 27)
id Symbol AA change Variation ID SNP ID
1 SGCA p.Arg77Cys VAR_010387 rs28933693
2 SGCA p.Arg98His VAR_010388 rs137852621
3 SGCA p.Val175Ala VAR_010389 rs137852622
4 SGCA p.Arg284Cys VAR_010390 rs137852623
5 SGCA p.Pro30Leu VAR_010402
6 SGCA p.Leu31Pro VAR_010403
7 SGCA p.Arg34Cys VAR_010404 rs758647756
8 SGCA p.Arg34His VAR_010405 rs371675217
9 SGCA p.Tyr62His VAR_010406
10 SGCA p.Gly68Glu VAR_010407
11 SGCA p.Arg74Trp VAR_010408 rs757888349
12 SGCA p.Leu89Pro VAR_010409
13 SGCA p.Gly91Arg VAR_010410
14 SGCA p.Ala93Val VAR_010411
15 SGCA p.Asp97Gly VAR_010412
16 SGCA p.Arg98Cys VAR_010413 rs138945081
17 SGCA p.Ile103Thr VAR_010414
18 SGCA p.Ile124Thr VAR_010415 rs768814872
19 SGCA p.Glu137Lys VAR_010416 rs372210292
20 SGCA p.Leu158Phe VAR_010417
21 SGCA p.Val196Ile VAR_010418
22 SGCA p.Pro205His VAR_010419 rs757481230
23 SGCA p.Val242Ala VAR_010420
24 SGCA p.Leu173Pro VAR_010431 rs143962150
25 SGCA p.Pro228Gln VAR_010432
26 SGCA p.Val247Met VAR_010433 rs143570936
27 SGCA p.Glu137Gly VAR_037966 rs28933694

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

6 (show all 33)
id Gene Variation Type Significance SNP ID Assembly Location
1 SGCA NM_000023.3(SGCA): c.293G> A (p.Arg98His) single nucleotide variant Pathogenic/Likely pathogenic rs137852621 GRCh37 Chromosome 17, 48245078: 48245078
2 SGCA NM_000023.3(SGCA): c.524T> C (p.Val175Ala) single nucleotide variant Pathogenic rs137852622 GRCh37 Chromosome 17, 48245873: 48245873
3 SGCA NM_000023.3(SGCA): c.229C> T (p.Arg77Cys) single nucleotide variant Pathogenic rs28933693 GRCh37 Chromosome 17, 48245014: 48245014
4 SGCA NM_000023.3(SGCA): c.410A> G (p.Glu137Gly) single nucleotide variant Pathogenic rs397514451 GRCh37 Chromosome 17, 48245759: 48245759
5 SGCA NM_000023.3(SGCA): c.850C> T (p.Arg284Cys) single nucleotide variant Pathogenic/Likely pathogenic rs137852623 GRCh37 Chromosome 17, 48247606: 48247606
6 SGCA SGCA, TYR134TER undetermined variant Pathogenic
7 SGCA NM_000023.3(SGCA): c.574C> T (p.Arg192Ter) single nucleotide variant Pathogenic rs387907298 GRCh37 Chromosome 17, 48245923: 48245923
8 SGCA NM_000023.3(SGCA): c.101G> A (p.Arg34His) single nucleotide variant Pathogenic/Likely pathogenic rs371675217 GRCh37 Chromosome 17, 48244792: 48244792
9 SGCA NM_000023.3(SGCA): c.739G> A (p.Val247Met) single nucleotide variant Pathogenic rs143570936 GRCh37 Chromosome 17, 48246607: 48246607
10 SGCA NM_000023.3(SGCA): c.220C> T (p.Arg74Trp) single nucleotide variant Likely pathogenic rs757888349 GRCh37 Chromosome 17, 48245005: 48245005
11 SGCA NM_000023.3(SGCA): c.371T> C (p.Ile124Thr) single nucleotide variant Pathogenic/Likely pathogenic rs768814872 GRCh38 Chromosome 17, 50168005: 50168005
12 SGCA NM_000023.3(SGCA): c.530delC (p.Ser177Leufs) deletion Pathogenic rs886041387 GRCh37 Chromosome 17, 48245879: 48245879
13 SGCA NM_000023.3(SGCA): c.518T> C (p.Leu173Pro) single nucleotide variant Pathogenic rs143962150 GRCh37 Chromosome 17, 48245867: 48245867
14 SGCA NM_000023.3(SGCA): c.307A> G (p.Ile103Val) single nucleotide variant Likely pathogenic rs370819630 GRCh38 Chromosome 17, 50167731: 50167731
15 SGCA NM_000023.3(SGCA): c.292C> T (p.Arg98Cys) single nucleotide variant Likely pathogenic rs138945081 GRCh37 Chromosome 17, 48245077: 48245077
16 SGCA NM_000023.3(SGCA): c.403C> T (p.Gln135Ter) single nucleotide variant Pathogenic rs886043221 GRCh37 Chromosome 17, 48245752: 48245752
17 SGCA NM_000023.3(SGCA): c.409G> A (p.Glu137Lys) single nucleotide variant Pathogenic rs372210292 GRCh37 Chromosome 17, 48245758: 48245758
18 SGCA NM_000023.3(SGCA): c.747+1G> A single nucleotide variant Pathogenic rs886043392 GRCh37 Chromosome 17, 48246616: 48246616
19 SGCA NM_000023.3(SGCA): c.770delC (p.Pro257Leufs) deletion Pathogenic rs886043962 GRCh37 Chromosome 17, 48247526: 48247526
20 SGCA NM_000023.3(SGCA): c.489delA (p.Leu164Serfs) deletion Pathogenic/Likely pathogenic rs753650776 GRCh37 Chromosome 17, 48245838: 48245838
21 SGCA NM_000023.3(SGCA): c.161delT (p.Val54Alafs) deletion Pathogenic rs886044516 GRCh37 Chromosome 17, 48244946: 48244946
22 SGCA NM_000023.3(SGCA): c.183dupC (p.Tyr62Leufs) duplication Pathogenic rs886044688 GRCh37 Chromosome 17, 48244968: 48244968
23 SGCA NM_000023.3(SGCA): c.-1_9delCATGGCTGAG deletion Likely pathogenic rs1057517107 GRCh37 Chromosome 17, 48243401: 48243410
24 SGCA NM_000023.3(SGCA): c.158-2A> G single nucleotide variant Likely pathogenic rs1057516300 GRCh38 Chromosome 17, 50167580: 50167580
25 SGCA NM_000023.3(SGCA): c.313-2A> G single nucleotide variant Likely pathogenic rs1057516650 GRCh37 Chromosome 17, 48245306: 48245306
26 SGCA NM_000023.3(SGCA): c.480_481delCT (p.Leu161Glyfs) deletion Likely pathogenic rs1057517142 GRCh37 Chromosome 17, 48245829: 48245830
27 SGCA NM_000023.3(SGCA): c.488dupG (p.Leu164Thrfs) duplication Likely pathogenic rs1057516244 GRCh38 Chromosome 17, 50168476: 50168476
28 SGCA NM_000023.3(SGCA): c.511C> T (p.Gln171Ter) single nucleotide variant Likely pathogenic rs1057516242 GRCh38 Chromosome 17, 50168499: 50168499
29 SGCA NM_000023.3(SGCA): c.559delC (p.Leu187Phefs) deletion Likely pathogenic rs1057516888 GRCh38 Chromosome 17, 50168547: 50168547
30 SGCA NM_000023.3(SGCA): c.580G> T (p.Glu194Ter) single nucleotide variant Likely pathogenic rs1057516664 GRCh38 Chromosome 17, 50168568: 50168568
31 SGCA NM_000023.3(SGCA): c.754_755delAA (p.Lys252Valfs) deletion Likely pathogenic rs1057517377 GRCh37 Chromosome 17, 48247510: 48247511
32 SGCA NM_000023.3(SGCA): c.755delA (p.Lys252Serfs) deletion Likely pathogenic rs1057516548 GRCh38 Chromosome 17, 50170150: 50170150
33 SGCA NM_000023.3(SGCA): c.846_847delAGinsT (p.Asp283Thrfs) indel Likely pathogenic rs1057516729 GRCh38 Chromosome 17, 50170241: 50170242

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

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

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

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

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

id Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.87 CAPN3 DYSF FKRP SGCA SGCB SGCD
2 cytoskeleton GO:0005856 9.71 SGCA SGCB SGCD SGCG
3 dystrophin-associated glycoprotein complex GO:0016010 9.56 FKRP SGCA SGCB SGCD
4 sarcoglycan complex GO:0016012 9.46 SGCA SGCB SGCD SGCG
5 T-tubule GO:0030315 9.37 CAPN3 DYSF
6 dystroglycan complex GO:0016011 9.26 SGCA SGCB SGCD SGCG
7 sarcolemma GO:0042383 9.1 DYSF FKRP SGCA SGCB SGCD SGCG

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

id Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.37 DYSF SGCA
2 cardiac muscle tissue development GO:0048738 9.32 SGCD SGCG
3 heart contraction GO:0060047 9.26 SGCD SGCG
4 membrane organization GO:0061024 9.26 SGCA SGCB SGCD SGCG
5 muscle cell development GO:0055001 9.16 SGCD SGCG
6 muscle organ development GO:0007517 9.02 CAPN3 SGCA SGCB SGCD SGCG

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
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34 ICD10 via Orphanet
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36 IUPHAR
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43 MESH via Orphanet
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65 SNOMED-CT via Orphanet
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