MCID: MSC123
MIFTS: 44

Muscular Dystrophy, Limb-Girdle, Type 2d

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

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

MalaCards integrated aliases for Muscular Dystrophy, Limb-Girdle, Type 2d:

Name: Muscular Dystrophy, Limb-Girdle, Type 2d 57 12 13
Lgmd2d 57 12 53 59 75
Dmda2 57 12 53 75
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d 12 59 15
Limb-Girdle Muscular Dystrophy, Type 2d 53 29 6
Alpha-Sarcoglycanopathy 12 53 59
Duchenne-Like Autosomal Recessive Muscular Dystrophy, Type 2 57 53
Severe Childhood Autosomal Recessive Muscular Dystrophy 75 73
Adhalinopathy, Primary 57 13
Severe Autosomal Recessive Muscular Dystrophy of Childhood - North African Type 73
Duchenne-Like Autosomal Recessive Muscular Dystrophy, Type 2; Dmda2 57
Limb-Girdle Muscular Dystrophy Due to Alpha-Sarcoglycan Deficiency 59
Duchenne-Like Autosomal Recessive Muscular Dystrophy Type 2 12
Duchenne-Like Muscular Dystrophy Autosomal Recessive Type 2 75
Muscular Dystrophy Limb-Girdle with Alpha-Sarcoglycan 53
Dystrophy, Muscular, Limb-Girdle, Type 2d 40
Limb-Girdle Muscular Dystrophy 2d 75
Alpha-Sarcoglycanopathies 73
Primary Adhalinopathy 12
Adhalinopathy Primary 75
Scarmd 75

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive limb-girdle muscular dystrophy type 2d
Inheritance: Autosomal recessive; Age of onset: Adolescent,Childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
progressive disorder
onset in childhood (3 to 10 years)
loss of independent walking by teenage years (in some)


HPO:

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


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 608099
Disease Ontology 12 DOID:0110278
ICD10 33 G71.0
Orphanet 59 ORPHA62
ICD10 via Orphanet 34 G71.0
UMLS via Orphanet 74 C1842550 C2936332
MeSH 44 D049288

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

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 62Disease definitionAutosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by childhood onset of progressive proximal weakness of the shoulder and pelvic girdle muscles, resulting in difficulty walking, scapular winging, calf hypertrophy and contractures of the Achilles tendon, which lead to a tiptoe gait pattern. Cardiac and respiratory involvement is rare.Visit the Orphanet disease page for more resources.

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. 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 (DCM). Related phenotypes are flexion contracture and cardiomyopathy

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.

OMIM : 57 LGMD2D is an autosomal recessive form of muscular dystrophy mainly affecting the proximal muscles and resulting in difficulty walking. Most individuals have onset in childhood; the disorder is progressive. Other features may include scapular winging, calf pseudohypertrophy, and contractures. Cardiomyopathy has rarely been reported (summary by Babameto-Laku et al., 2011). For a discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy, see 253600. (608099)

UniProtKB/Swiss-Prot : 75 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

Diseases in the Limb-Girdle Muscular Dystrophy family:

Muscular Dystrophy, Limb-Girdle, Type 1a Muscular Dystrophy, Limb-Girdle, Type 1b
Muscular Dystrophy, Limb-Girdle, Type 2a Muscular Dystrophy, Limb-Girdle, Type 2b
Muscular Dystrophy, Limb-Girdle, Type 2c Muscular Dystrophy, Limb-Girdle, Type 2h
Muscular Dystrophy, Limb-Girdle, Type 2f Muscular Dystrophy, Limb-Girdle, Type 2g
Muscular Dystrophy, Limb-Girdle, Type 1e Muscular Dystrophy, Limb-Girdle, Type 1c
Muscular Dystrophy, Limb-Girdle, Type 2d Muscular Dystrophy, Limb-Girdle, Type 1f
Muscular Dystrophy, Limb-Girdle, Type 2j Limb-Girdle Muscular Dystrophy, Type 1g
Muscular Dystrophy, Limb-Girdle, Type 2l Muscular Dystrophy, Limb-Girdle, Type 1h
Muscular Dystrophy, Limb-Girdle, Type 2q Muscular Dystrophy, Limb-Girdle, Type 2r
Muscular Dystrophy, Limb-Girdle, Type 2x Muscular Dystrophy, Limb-Girdle, Type 2w
Muscular Dystrophy, Limb-Girdle, Type 2z 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 2e Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g

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

(show all 30)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, limb-girdle, type 2c 29.7 CAPN3 DYSF SGCA SGCD SGCG
2 muscular dystrophy 25.6 CAPN3 DYSF FKRP SGCA SGCB SGCD
3 muscular dystrophy, becker type 9.9 DYSF SGCA
4 dysferlinopathy 9.8 CAPN3 DYSF
5 muscular dystrophy, limb-girdle, type 2a 9.8 CAPN3 SGCB
6 distal muscular dystrophy 9.7 CAPN3 DYSF
7 isolated hyperckemia 9.7 CAPN3 FKRP
8 polyglucosan body myopathy 1 with or without immunodeficiency 9.7 CAPN3 FKRP
9 muscular dystrophy, limb-girdle, type 2j 9.6 CAPN3 FKRP
10 bethlem myopathy 1 9.6 CAPN3 DYSF
11 muscular dystrophy, limb-girdle, type 1c 9.6 DYSF FKRP
12 muscular dystrophy, limb-girdle, type 1a 9.6 CAPN3 FKRP
13 autosomal dominant limb-girdle muscular dystrophy type 1c 9.5 DYSF FKRP
14 muscular dystrophy, limb-girdle, type 2l 9.5 DYSF FKRP
15 myositis 9.5 CAPN3 DYSF
16 walker-warburg syndrome 9.2 FKRP SGCA
17 autosomal recessive limb-girdle muscular dystrophy type 2e 9.1 CAPN3 SGCB SGCD SGCG
18 autosomal recessive limb-girdle muscular dystrophy type 2b 9.1 CAPN3 DYSF SGCA SGCG
19 muscular dystrophy, limb-girdle, type 2h 9.0 CAPN3 DYSF FKRP
20 muscular dystrophy, limb-girdle, type 2g 9.0 CAPN3 DYSF FKRP
21 muscular dystrophy-dystroglycanopathy , type c, 5 9.0 CAPN3 DYSF FKRP
22 autosomal recessive limb-girdle muscular dystrophy type 2h 8.5 CAPN3 DYSF FKRP SGCG
23 dilated cardiomyopathy 8.2 FKRP SGCA SGCB SGCD SGCG
24 muscular dystrophy, limb-girdle, type 2b 8.0 CAPN3 DYSF FKRP SGCA SGCB
25 autosomal recessive limb-girdle muscular dystrophy type 2f 8.0 CAPN3 DYSF SGCA SGCB SGCD SGCG
26 autosomal recessive limb-girdle muscular dystrophy 7.6 CAPN3 DYSF FKRP SGCA SGCD SGCG
27 muscle tissue disease 7.6 CAPN3 DYSF FKRP SGCA SGCD SGCG
28 myopathy 7.5 CAPN3 DYSF FKRP SGCA SGCB SGCG
29 muscular dystrophy, limb-girdle, type 2f 7.0 CAPN3 DYSF FKRP SGCA SGCB SGCD
30 limb-girdle muscular dystrophy 7.0 CAPN3 DYSF FKRP SGCA SGCB SGCD

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 via clinical synopsis from OMIM:

57
Muscle Soft Tissue:
unsteady gait
calf muscle hypertrophy
limb-girdle muscle atrophy
myopathic changes seen on emg
limb-girdle muscle weakness
more
Skeletal:
contractures

Skeletal Spine:
scoliosis may occur

Laboratory Abnormalities:
increased serum creatine kinase

Cardiovascular Heart:
cardiomyopathy (rare)

Neurologic Central Nervous System:
loss of reflexes due to myopathy


Clinical features from OMIM:

608099

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

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 flexion contracture 32 HP:0001371
2 cardiomyopathy 32 occasional (7.5%) HP:0001638
3 unsteady gait 32 HP:0002317
4 scoliosis 32 occasional (7.5%) HP:0002650
5 elevated serum creatine phosphokinase 32 HP:0003236
6 limb-girdle muscle weakness 32 HP:0003325
7 emg 32 HP:0003458
8 limb-girdle muscle atrophy 32 HP:0003797
9 limb-girdle muscular dystrophy 32 HP:0006785
10 calf muscle hypertrophy 32 HP:0008981

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.63 CAPN3 FKRP SGCA SGCB SGCD SGCG
2 homeostasis/metabolism MP:0005376 9.43 CAPN3 DYSF FKRP SGCA SGCD SGCG
3 muscle MP:0005369 9.17 FKRP SGCA SGCB SGCD SGCG CAPN3

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Gene Transfer Clinical Trial for LGMD2D (Alpha-sarcoglycan Deficiency) Using scAAVrh74.tMCK.hSGCA Active, not recruiting NCT01976091 Phase 1, Phase 2 scAAVrh74.tMCK.hSGCA
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:

# Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy, Type 2d 29 SGCA

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

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

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

# Title Authors Year
1
Natural disease history of mouse models for limb girdle muscular dystrophy types 2D and 2F. ( 28797108 )
2017
2
Probable high prevalence of limb-girdle muscular dystrophy type 2D in Taiwan. ( 26944168 )
2016
3
Sustained alpha-sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D. ( 21031578 )
2010
4
Limb-girdle muscular dystrophy type 2D gene therapy restores alpha-sarcoglycan and associated proteins. ( 19798725 )
2009

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

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

75 (show all 27)
# 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 rs886043256
6 SGCA p.Leu31Pro VAR_010403 rs903823830
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 rs752695991
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 rs397514451

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

6
(show top 50) (show all 167)
# 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.293G> A (p.Arg98His) single nucleotide variant Pathogenic/Likely pathogenic rs137852621 GRCh38 Chromosome 17, 50167717: 50167717
3 SGCA NM_000023.3(SGCA): c.524T> C (p.Val175Ala) single nucleotide variant Pathogenic rs137852622 GRCh37 Chromosome 17, 48245873: 48245873
4 SGCA NM_000023.3(SGCA): c.524T> C (p.Val175Ala) single nucleotide variant Pathogenic rs137852622 GRCh38 Chromosome 17, 50168512: 50168512
5 SGCA NM_000023.3(SGCA): c.229C> T (p.Arg77Cys) single nucleotide variant Pathogenic rs28933693 GRCh37 Chromosome 17, 48245014: 48245014
6 SGCA NM_000023.3(SGCA): c.229C> T (p.Arg77Cys) single nucleotide variant Pathogenic rs28933693 GRCh38 Chromosome 17, 50167653: 50167653
7 SGCA NM_000023.3(SGCA): c.410A> G (p.Glu137Gly) single nucleotide variant Pathogenic rs397514451 GRCh37 Chromosome 17, 48245759: 48245759
8 SGCA NM_000023.3(SGCA): c.410A> G (p.Glu137Gly) single nucleotide variant Pathogenic rs397514451 GRCh38 Chromosome 17, 50168398: 50168398
9 SGCA NM_000023.3(SGCA): c.850C> T (p.Arg284Cys) single nucleotide variant Pathogenic/Likely pathogenic rs137852623 GRCh37 Chromosome 17, 48247606: 48247606
10 SGCA NM_000023.3(SGCA): c.850C> T (p.Arg284Cys) single nucleotide variant Pathogenic/Likely pathogenic rs137852623 GRCh38 Chromosome 17, 50170245: 50170245
11 SGCA SGCA, TYR134TER undetermined variant Pathogenic
12 SGCA NM_000023.3(SGCA): c.574C> T (p.Arg192Ter) single nucleotide variant Pathogenic rs387907298 GRCh37 Chromosome 17, 48245923: 48245923
13 SGCA NM_000023.3(SGCA): c.574C> T (p.Arg192Ter) single nucleotide variant Pathogenic rs387907298 GRCh38 Chromosome 17, 50168562: 50168562
14 SGCA NM_000023.3(SGCA): c.101G> A (p.Arg34His) single nucleotide variant Pathogenic/Likely pathogenic rs371675217 GRCh37 Chromosome 17, 48244792: 48244792
15 SGCA NM_000023.3(SGCA): c.101G> A (p.Arg34His) single nucleotide variant Pathogenic/Likely pathogenic rs371675217 GRCh38 Chromosome 17, 50167431: 50167431
16 SGCA NM_000023.3(SGCA): c.1120C> T (p.Arg374Cys) single nucleotide variant Benign/Likely benign rs35495899 GRCh37 Chromosome 17, 48252754: 48252754
17 SGCA NM_000023.3(SGCA): c.1120C> T (p.Arg374Cys) single nucleotide variant Benign/Likely benign rs35495899 GRCh38 Chromosome 17, 50175393: 50175393
18 SGCA NM_000023.3(SGCA): c.739G> A (p.Val247Met) single nucleotide variant Pathogenic/Likely pathogenic rs143570936 GRCh37 Chromosome 17, 48246607: 48246607
19 SGCA NM_000023.3(SGCA): c.739G> A (p.Val247Met) single nucleotide variant Pathogenic/Likely pathogenic rs143570936 GRCh38 Chromosome 17, 50169246: 50169246
20 SGCA NM_000023.3(SGCA): c.220C> T (p.Arg74Trp) single nucleotide variant Likely pathogenic rs757888349 GRCh37 Chromosome 17, 48245005: 48245005
21 SGCA NM_000023.3(SGCA): c.220C> T (p.Arg74Trp) single nucleotide variant Likely pathogenic rs757888349 GRCh38 Chromosome 17, 50167644: 50167644
22 SGCA NM_000023.3(SGCA): c.371T> C (p.Ile124Thr) single nucleotide variant Pathogenic/Likely pathogenic rs768814872 GRCh38 Chromosome 17, 50168005: 50168005
23 SGCA NM_000023.3(SGCA): c.371T> C (p.Ile124Thr) single nucleotide variant Pathogenic/Likely pathogenic rs768814872 GRCh37 Chromosome 17, 48245366: 48245366
24 SGCA NM_000023.3(SGCA): c.320C> T (p.Ala107Val) single nucleotide variant Uncertain significance rs186669379 GRCh37 Chromosome 17, 48245315: 48245315
25 SGCA NM_000023.3(SGCA): c.320C> T (p.Ala107Val) single nucleotide variant Uncertain significance rs186669379 GRCh38 Chromosome 17, 50167954: 50167954
26 SGCA NM_000023.3(SGCA): c.313-10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs569744194 GRCh37 Chromosome 17, 48245298: 48245298
27 SGCA NM_000023.3(SGCA): c.313-10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs569744194 GRCh38 Chromosome 17, 50167937: 50167937
28 SGCA NM_000023.3(SGCA): c.421C> A (p.Arg141Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs35130237 GRCh37 Chromosome 17, 48245770: 48245770
29 SGCA NM_000023.3(SGCA): c.421C> A (p.Arg141Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs35130237 GRCh38 Chromosome 17, 50168409: 50168409
30 SGCA NM_000023.3(SGCA): c.700G> A (p.Asp234Asn) single nucleotide variant Uncertain significance rs760608643 GRCh37 Chromosome 17, 48246568: 48246568
31 SGCA NM_000023.3(SGCA): c.700G> A (p.Asp234Asn) single nucleotide variant Uncertain significance rs760608643 GRCh38 Chromosome 17, 50169207: 50169207
32 SGCA NM_000023.3(SGCA): c.690G> C (p.Leu230=) single nucleotide variant Conflicting interpretations of pathogenicity rs139454982 GRCh37 Chromosome 17, 48246558: 48246558
33 SGCA NM_000023.3(SGCA): c.690G> C (p.Leu230=) single nucleotide variant Conflicting interpretations of pathogenicity rs139454982 GRCh38 Chromosome 17, 50169197: 50169197
34 SGCA NM_000023.3(SGCA): c.100C> T (p.Arg34Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs758647756 GRCh38 Chromosome 17, 50167430: 50167430
35 SGCA NM_000023.3(SGCA): c.100C> T (p.Arg34Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs758647756 GRCh37 Chromosome 17, 48244791: 48244791
36 SGCA NM_000023.3(SGCA): c.530delC (p.Ser177Leufs) deletion Pathogenic rs886041387 GRCh37 Chromosome 17, 48245879: 48245879
37 SGCA NM_000023.3(SGCA): c.530delC (p.Ser177Leufs) deletion Pathogenic rs886041387 GRCh38 Chromosome 17, 50168518: 50168518
38 SGCA NM_000023.3(SGCA): c.518T> C (p.Leu173Pro) single nucleotide variant Pathogenic rs143962150 GRCh37 Chromosome 17, 48245867: 48245867
39 SGCA NM_000023.3(SGCA): c.518T> C (p.Leu173Pro) single nucleotide variant Pathogenic rs143962150 GRCh38 Chromosome 17, 50168506: 50168506
40 SGCA NM_000023.3(SGCA): c.37+6T> C single nucleotide variant Uncertain significance rs751466815 GRCh37 Chromosome 17, 48243444: 48243444
41 SGCA NM_000023.3(SGCA): c.37+6T> C single nucleotide variant Uncertain significance rs751466815 GRCh38 Chromosome 17, 50166083: 50166083
42 SGCA NM_000023.3(SGCA): c.157G> A (p.Ala53Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs60407644 GRCh37 Chromosome 17, 48244848: 48244848
43 SGCA NM_000023.3(SGCA): c.157G> A (p.Ala53Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs60407644 GRCh38 Chromosome 17, 50167487: 50167487
44 SGCA NM_000023.3(SGCA): c.929A> G (p.Tyr310Cys) single nucleotide variant Uncertain significance rs145252144 GRCh37 Chromosome 17, 48247685: 48247685
45 SGCA NM_000023.3(SGCA): c.929A> G (p.Tyr310Cys) single nucleotide variant Uncertain significance rs145252144 GRCh38 Chromosome 17, 50170324: 50170324
46 SGCA NM_000023.3(SGCA): c.307A> G (p.Ile103Val) single nucleotide variant Likely pathogenic rs370819630 GRCh38 Chromosome 17, 50167731: 50167731
47 SGCA NM_000023.3(SGCA): c.307A> G (p.Ile103Val) single nucleotide variant Likely pathogenic rs370819630 GRCh37 Chromosome 17, 48245092: 48245092
48 SGCA NM_000023.3(SGCA): c.292C> T (p.Arg98Cys) single nucleotide variant Likely pathogenic rs138945081 GRCh37 Chromosome 17, 48245077: 48245077
49 SGCA NM_000023.3(SGCA): c.292C> T (p.Arg98Cys) single nucleotide variant Likely pathogenic rs138945081 GRCh38 Chromosome 17, 50167716: 50167716
50 SGCA NM_000023.3(SGCA): c.402C> G (p.Tyr134Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs780264754 GRCh37 Chromosome 17, 48245751: 48245751

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:

# 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:

# 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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....