MCID: MSC123
MIFTS: 47

Muscular Dystrophy, Limb-Girdle, Type 2d

Categories: Genetic diseases, Rare diseases, Metabolic diseases, Muscle diseases, Neuronal 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 53 12 13
Lgmd2d 53 12 49 55 71
Dmda2 53 12 49 71
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d 12 55 14
Alpha-Sarcoglycanopathy 12 49 55
Duchenne-Like Autosomal Recessive Muscular Dystrophy, Type 2 53 49
Severe Childhood Autosomal Recessive Muscular Dystrophy 71 69
Limb-Girdle Muscular Dystrophy, Type 2d 49 28
Adhalinopathy, Primary 53 13
Severe Autosomal Recessive Muscular Dystrophy of Childhood - North African Type 69
Duchenne-Like Autosomal Recessive Muscular Dystrophy, Type 2; Dmda2 53
Limb-Girdle Muscular Dystrophy Due to Alpha-Sarcoglycan Deficiency 55
Duchenne-Like Autosomal Recessive Muscular Dystrophy Type 2 12
Duchenne-Like Muscular Dystrophy Autosomal Recessive Type 2 71
Muscular Dystrophy Limb-Girdle with Alpha-Sarcoglycan 49
Limb-Girdle Muscular Dystrophy 2d 71
Alpha-Sarcoglycanopathies 69
Primary Adhalinopathy 12
Adhalinopathy Primary 71
Scarmd 71

Characteristics:

Orphanet epidemiological data:

55
autosomal recessive limb-girdle muscular dystrophy type 2d
Inheritance: Autosomal recessive; Age of onset: Adolescent,Childhood;

OMIM:

53
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:

31
muscular dystrophy, limb-girdle, type 2d:
Onset and clinical course variable expressivity juvenile onset progressive
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 55  
Rare neurological diseases


External Ids:

OMIM 53 608099
Disease Ontology 12 DOID:0110278
ICD10 32 G71.0
Orphanet 55 ORPHA62
UMLS via Orphanet 70 C2936332 C1842550
ICD10 via Orphanet 33 G71.0
MeSH 41 D049288

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

OMIM : 53 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)

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, 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 (DCM). Related phenotypes are cardiovascular system and homeostasis/metabolism

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.

NIH Rare Diseases : 49 This condition doesn't have a summary yet. Please see our page(s) on Limb-girdle muscular dystrophy.

UniProtKB/Swiss-Prot : 71 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 32)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, limb-girdle, type 2c 30.5 CAPN3 DYSF SGCA SGCD SGCG
2 muscular dystrophy 27.3 CAPN3 DYSF FKRP SGCA SGCB SGCD
3 muscular dystrophy, becker type 9.9 DYSF SGCA
4 miyoshi muscular dystrophy 1 9.9 CAPN3 DYSF
5 dysferlinopathy 9.9 CAPN3 DYSF
6 distal muscular dystrophy 9.8 CAPN3 DYSF
7 muscular dystrophy, duchenne type 9.8 SGCA SGCB SGCD
8 isolated hyperckemia 9.8 CAPN3 FKRP
9 bethlem myopathy 1 9.8 CAPN3 DYSF
10 muscular dystrophy, limb-girdle, type 2j 9.8 CAPN3 FKRP
11 muscular dystrophy, limb-girdle, type 1c 9.7 DYSF FKRP
12 muscular dystrophy, limb-girdle, type 1a 9.7 CAPN3 FKRP
13 autosomal dominant limb-girdle muscular dystrophy type 1c 9.7 DYSF FKRP
14 muscle eye brain disease 9.7 FKRP SGCA
15 muscular dystrophy, limb-girdle, type 2l 9.7 DYSF FKRP
16 myositis 9.7 CAPN3 DYSF
17 walker-warburg syndrome 9.5 FKRP SGCA
18 autosomal recessive limb-girdle muscular dystrophy type 2e 9.4 CAPN3 SGCB SGCD SGCG
19 autosomal recessive limb-girdle muscular dystrophy type 2b 9.4 CAPN3 DYSF SGCA SGCG
20 muscular dystrophy, limb-girdle, type 2h 9.4 CAPN3 DYSF FKRP
21 muscular dystrophy, limb-girdle, type 2g 9.4 CAPN3 DYSF FKRP
22 muscular dystrophy-dystroglycanopathy , type c, 5 9.4 CAPN3 DYSF FKRP
23 autosomal recessive limb-girdle muscular dystrophy type 2h 9.1 CAPN3 DYSF FKRP SGCG
24 dilated cardiomyopathy 8.9 FKRP SGCA SGCB SGCD SGCG
25 autosomal recessive limb-girdle muscular dystrophy 8.8 CAPN3 DYSF FKRP SGCA SGCD
26 muscular dystrophy, limb-girdle, type 2b 8.7 CAPN3 DYSF FKRP SGCA SGCB
27 autosomal recessive limb-girdle muscular dystrophy type 2f 8.7 CAPN3 DYSF SGCA SGCB SGCD SGCG
28 muscle tissue disease 8.5 CAPN3 DYSF FKRP SGCA SGCD SGCG
29 myopathy 8.4 CAPN3 DYSF FKRP SGCA SGCB SGCG
30 muscular dystrophy, limb-girdle, type 2a 8.1 CAPN3 DYSF FKRP SGCA SGCB SGCD
31 muscular dystrophy, limb-girdle, type 2f 8.1 CAPN3 DYSF FKRP SGCA SGCB SGCD
32 limb-girdle muscular dystrophy 8.1 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:

53
Muscle Soft Tissue:
unsteady gait
calf muscle hypertrophy
myopathic changes seen on emg
limb-girdle muscle weakness
limb-girdle muscle atrophy
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:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 occasional (7.5%) HP:0002650
2 flexion contracture 31 HP:0001371
3 elevated serum creatine phosphokinase 31 HP:0003236
4 cardiomyopathy 31 occasional (7.5%) HP:0001638
5 unsteady gait 31 HP:0002317
6 calf muscle hypertrophy 31 HP:0008981
7 limb-girdle muscular dystrophy 31 HP:0006785
8 limb-girdle muscle weakness 31 HP:0003325
9 limb-girdle muscle atrophy 31 HP:0003797
10 emg 31 HP:0003458

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

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.63 SGCD SGCG CAPN3 FKRP SGCA SGCB
2 homeostasis/metabolism MP:0005376 9.43 SGCD SGCG CAPN3 DYSF FKRP SGCA
3 muscle MP:0005369 9.17 SGCG CAPN3 DYSF FKRP SGCA SGCB

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 28 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:

(show all 21)
# Title Authors Year
1
Lack of toxicity of alpha-sarcoglycan overexpression supports clinical gene transfer trial in LGMD2D. ( 18525034 )
2008
2
Severe childhood autosomal recessive muscular dystrophy, mental subnormality and chorea. ( 17114866 )
2006
3
Severe childhood autosomal recessive muscular dystrophy, mental subnormality and chorea. ( 16936393 )
2006
4
Enrichment of the R77C alpha-sarcoglycan gene mutation in Finnish LGMD2D patients. ( 15736300 )
2005
5
Respiratory insufficiency as a presenting symptom of LGMD2D in adulthood. ( 15298081 )
2004
6
[Early onset adhalinopathy (LGMD2D) mimicking congenital muscular dystrophy]. ( 11391490 )
2001
7
Partial alpha-sarcoglycan deficiency with retention of the dystrophin-glycoprotein complex in a LGMD2D family. ( 10842281 )
2000
8
Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D). ( 9192266 )
1997
9
[Clinicopathological characteristics and molecular genetics of adhalin deficiency (severe childhood autosomal recessive muscular dystrophy/SCARMD)]. ( 9436427 )
1997
10
Clinical and molecular pathological features of severe childhood autosomal recessive muscular dystrophy in Saudi Arabia. ( 8631523 )
1996
11
Laminin abnormality in severe childhood autosomal recessive muscular dystrophy. ( 7783429 )
1995
12
Estimate of severe autosomal recessive limb-girdle muscular dystrophy (LGMD2C, LGMD2D) among sporadic muscular dystrophy males: a study of 415 familes. ( 8825917 )
1995
13
[Severe childhood autosomal recessive muscular dystrophy]. ( 8752417 )
1995
14
Selective defect of sarcoglycan complex in severe childhood autosomal recessive muscular dystrophy muscle. ( 8093083 )
1994
15
Linkage analysis of families with severe childhood autosomal recessive muscular dystrophy in Morocco indicates genetic homogeneity of the disease in north Africa. ( 8071965 )
1994
16
Selective defect in dystrophin-associated glycoproteins 50DAG (A2) and 35DAG (A4) in the dystrophic hamster: an animal model for severe childhood autosomal recessive muscular dystrophy (SCARMD). ( 8173351 )
1994
17
Deficiency of the 50 kDa dystrophin-associated glycoprotein and abnormal expression of utrophin in two south Asian cousins with variable expression of severe childhood autosomal recessive muscular dystrophy. ( 8012192 )
1994
18
Genetic heterogeneity of severe childhood autosomal recessive muscular dystrophy with adhalin (50 kDa dystrophin-associated glycoprotein) deficiency. ( 7987694 )
1994
19
Assessment of the 50-kDa dystrophin-associated glycoprotein in Brazilian patients with severe childhood autosomal recessive muscular dystrophy. ( 8064304 )
1994
20
Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kDa dystrophin-associated glycoprotein maps to chromosome 13q12. ( 8242065 )
1993
21
Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy. ( 1406935 )
1992

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

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

71 (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 all 37)
# 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/Likely pathogenic rs143570936 GRCh38 Chromosome 17, 50169246: 50169246
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/Likely 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 GRCh38 Chromosome 17, 50166040: 50166049
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 GRCh37 Chromosome 17, 48245860: 48245860
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 GRCh37 Chromosome 17, 48247511: 48247511
33 SGCA NM_000023.3(SGCA): c.846_847delAGinsT (p.Asp283Thrfs) indel Likely pathogenic rs1057516729 GRCh38 Chromosome 17, 50170241: 50170242
34 SGCA NM_000023.3(SGCA): c.391delC (p.Leu131Cysfs) deletion Pathogenic rs1064793570 GRCh37 Chromosome 17, 48245740: 48245740
35 SGCA NM_000023.3(SGCA): c.209C> G (p.Pro70Arg) single nucleotide variant Likely pathogenic GRCh37 Chromosome 17, 48244994: 48244994
36 SGCA NM_000023.3(SGCA): c.348_352dup (p.Gln118Leufs) duplication Pathogenic GRCh37 Chromosome 17, 48245343: 48245347
37 SGCA NM_000023.3(SGCA): c.724G> T (p.Val242Phe) single nucleotide variant Likely pathogenic rs200166783 GRCh37 Chromosome 17, 48246592: 48246592

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
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10 dbSNP
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16 ExPASy
18 FMA
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67 TGDB
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70 UMLS via Orphanet
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