LGMDR3
MCID: MSC177
MIFTS: 37

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 (LGMDR3)

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

Aliases & Classifications for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3

MalaCards integrated aliases for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3:

Name: Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 58 76
Lgmd2d 58 54 60 76
Muscular Dystrophy, Limb-Girdle, Type 2d 58 76 13
Limb-Girdle Muscular Dystrophy, Type 2d 54 30 6
Dmda2 58 54 76
Duchenne-Like Autosomal Recessive Muscular Dystrophy, Type 2 58 54
Alpha-Sarcoglycanopathy 54 60
Lgmdr3 58 76
Duchenne-Like Autosomal Recessive Muscular Dystrophy, Type 2; Dmda2 58
Limb-Girdle Muscular Dystrophy Due to Alpha-Sarcoglycan Deficiency 60
Duchenne-Like Muscular Dystrophy Autosomal Recessive Type 2 76
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d 60
Severe Childhood Autosomal Recessive Muscular Dystrophy 76
Muscular Dystrophy Limb-Girdle with Alpha-Sarcoglycan 54
Muscular Dystrophy, Limb-Girdle, Type 2d; Lgmd2d 58
Dystrophy, Muscular, Limb-Girdle, Type 2d 41
Limb-Girdle Muscular Dystrophy 2d 76
Adhalinopathy, Primary 58
Adhalinopathy Primary 76
Scarmd 76

Characteristics:

Orphanet epidemiological data:

60
autosomal recessive limb-girdle muscular dystrophy type 2d
Inheritance: Autosomal recessive; Age of onset: Adolescent,Childhood;

OMIM:

58
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:

33
muscular dystrophy, limb-girdle, autosomal recessive 3:
Onset and clinical course variable expressivity juvenile onset progressive
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

OMIM 58 608099
MeSH 45 D049288
ICD10 via Orphanet 35 G71.0
UMLS via Orphanet 75 C1842550 C2936332
Orphanet 60 ORPHA62

Summaries for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3

NIH Rare Diseases : 54 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, Autosomal Recessive 3, also known as lgmd2d, is related to autosomal recessive limb-girdle muscular dystrophy type 2d and muscular dystrophy, limb-girdle, autosomal recessive 5. An important gene associated with Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 is SGCA (Sarcoglycan Alpha). Related phenotypes are scoliosis and cardiomyopathy

OMIM : 58 Autosomal recessive limb-girdle muscular dystrophy-3 affects mainly the proximal muscles and results 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 LGMDR1 (253600). (608099)

UniProtKB/Swiss-Prot : 76 Muscular dystrophy, limb-girdle, autosomal recessive 3: 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, Autosomal Recessive 3

Diseases in the Limb-Girdle Muscular Dystrophy family:

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 Muscular Dystrophy, Limb-Girdle, Type 1h
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Autosomal Dominant Limb-Girdle Muscular Dystrophy Autosomal Recessive Limb-Girdle Muscular Dystrophy
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x
Limb-Girdle Muscular Dystrophy Type 1a Limb-Girdle Muscular Dystrophy Type 1b
Limb-Girdle Muscular Dystrophy Type 1c

Diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive limb-girdle muscular dystrophy type 2d 11.7
2 muscular dystrophy, limb-girdle, autosomal recessive 5 11.4
3 autosomal recessive limb-girdle muscular dystrophy type 2c 11.1
4 choreatic disease 10.3
5 muscular dystrophy 10.2
6 bethlem myopathy 1 10.1
7 muscular dystrophy, limb-girdle, autosomal recessive 1 10.1
8 muscular dystrophy, duchenne type 10.1
9 myoglobinuria 10.1
10 myopathy 10.1
11 muscular dystrophy, congenital, lmna-related 10.1
12 autosomal recessive limb-girdle muscular dystrophy 10.1
13 limb-girdle muscular dystrophy 10.1

Graphical network of the top 20 diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3:



Diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3

Symptoms & Phenotypes for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3

Human phenotypes related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3:

33 60 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 33 occasional (7.5%) HP:0002650
2 cardiomyopathy 33 occasional (7.5%) HP:0001638
3 hyperlordosis 60 Frequent (79-30%)
4 flexion contracture 33 HP:0001371
5 elevated serum creatine phosphokinase 60 Frequent (79-30%)
6 limb-girdle muscular dystrophy 33 HP:0006785
7 achilles tendon contracture 60 Frequent (79-30%)
8 waddling gait 60 Frequent (79-30%)
9 emg: myopathic abnormalities 33 HP:0003458
10 scapular winging 60 Frequent (79-30%)
11 toe walking 60 Frequent (79-30%)
12 proximal muscle weakness 60 Frequent (79-30%)
13 limb-girdle muscle weakness 33 HP:0003325
14 frequent falls 60 Frequent (79-30%)
15 muscular dystrophy 60 Frequent (79-30%)
16 gowers sign 60 Frequent (79-30%)
17 difficulty climbing stairs 60 Frequent (79-30%)
18 calf muscle hypertrophy 33 HP:0008981
19 calf muscle pseudohypertrophy 60 Frequent (79-30%)
20 limited shoulder movement 60 Frequent (79-30%)
21 thoracic scoliosis 60 Occasional (29-5%)
22 unsteady gait 33 HP:0002317
23 limb-girdle muscle atrophy 33 HP:0003797
24 elevated serum creatine kinase 33 HP:0003236

Symptoms via clinical synopsis from OMIM:

58
Muscle Soft Tissue:
limb-girdle muscle weakness
calf muscle hypertrophy
unsteady gait
limb-girdle muscle atrophy
myopathic changes seen on emg
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

GenomeRNAi Phenotypes related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Negative genetic interaction between PTEN-/- and PTEN+/+ GR00255-A-3 8.62 SGCA TUBA1A

Drugs & Therapeutics for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3

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, Autosomal Recessive 3

Genetic Tests for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3

Genetic tests related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3:

# Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy, Type 2d 30 SGCA

Anatomical Context for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3

Publications for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3

Articles related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3:

(show all 20)
# Title Authors Year
1
Gene Delivery for Limb-Girdle Muscular Dystrophy Type 2D by Isolated Limb Infusion. ( 30838895 )
2019
2
A new mutation of the SCGA gene is the cause of a late onset mild phenotype limb girdle muscular dystrophy type 2D with axial involvement. ( 30007747 )
2018
3
Probable high prevalence of limb-girdle muscular dystrophy type 2D in Taiwan. ( 26944168 )
2016
4
LGMD2D syndrome: the importance of clinical and molecular genetics in patient and family management. Case Report. ( 27857043 )
2016
5
Founder mutation for α-sarcoglycan-LGMD2D in a Magdalen Islands Acadian cluster. ( 21856579 )
2011
6
The first case of primary alpha-sarcoglycanopathy identified in Albania, in two siblings with homozygous alpha-sarcoglycan mutation. ( 22303798 )
2011
7
Sustained alpha-sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D. ( 21031578 )
2010
8
Limb-girdle muscular dystrophy type 2D gene therapy restores alpha-sarcoglycan and associated proteins. ( 19798725 )
2009
9
Lack of toxicity of alpha-sarcoglycan overexpression supports clinical gene transfer trial in LGMD2D. ( 18525034 )
2008
10
Mannosidase I inhibition rescues the human alpha-sarcoglycan R77C recurrent mutation. ( 18252745 )
2008
11
Enrichment of the R77C alpha-sarcoglycan gene mutation in Finnish LGMD2D patients. ( 15736300 )
2005
12
Respiratory insufficiency as a presenting symptom of LGMD2D in adulthood. ( 15298081 )
2004
13
Alpha-sarcoglycanopathy previously misdiagnosed as Duchenne muscular dystrophy: implications for current diagnostics and patient care. ( 11475588 )
2001
14
Partial alpha-sarcoglycan deficiency with retention of the dystrophin-glycoprotein complex in a LGMD2D family. ( 10842281 )
2000
15
Homozygous alpha-sarcoglycan mutation in two siblings: one asymptomatic and one steroid-responsive mild limb-girdle muscular dystrophy patient. ( 9585331 )
1998
16
Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D). ( 9192266 )
1997
17
A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy. ( 8528203 )
1995
18
Estimate of severe autosomal recessive limb-girdle muscular dystrophy (LGMD2C, LGMD2D) among sporadic muscular dystrophy males: a study of 415 familes. ( 8825917 )
1995
19
Adhalin gene mutations in patients with autosomal recessive childhood onset muscular dystrophy with adhalin deficiency. ( 7657792 )
1995
20
Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy. ( 8069911 )
1994

Variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3:

76 (show all 29)
# 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 rs143501421
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 rs116129134
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 rs138415871
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
28 SGCA p.Leu76Phe VAR_081098
29 SGCA p.Arg81Cys VAR_081099 rs398123098

ClinVar genetic disease variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3:

6 (show top 50) (show all 235)
# 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_000023.2(SGCA): c.850C> T (p.Arg284Cys) single nucleotide variant Pathogenic/Likely pathogenic rs137852623 GRCh37 Chromosome 17, 48247606: 48247606
10 SGCA NM_000023.2(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.328C> T (p.Arg110Trp) single nucleotide variant Uncertain significance rs200137051 GRCh37 Chromosome 17, 48245323: 48245323
17 SGCA NM_000023.3(SGCA): c.328C> T (p.Arg110Trp) single nucleotide variant Uncertain significance rs200137051 GRCh38 Chromosome 17, 50167962: 50167962
18 SGCA NM_000023.3(SGCA): c.528C> T (p.Thr176=) single nucleotide variant Benign/Likely benign rs1801190 GRCh37 Chromosome 17, 48245877: 48245877
19 SGCA NM_000023.3(SGCA): c.528C> T (p.Thr176=) single nucleotide variant Benign/Likely benign rs1801190 GRCh38 Chromosome 17, 50168516: 50168516
20 SGCA NM_000023.3(SGCA): c.933C> T (p.Val311=) single nucleotide variant Benign/Likely benign rs1801191 GRCh37 Chromosome 17, 48247689: 48247689
21 SGCA NM_000023.3(SGCA): c.933C> T (p.Val311=) single nucleotide variant Benign/Likely benign rs1801191 GRCh38 Chromosome 17, 50170328: 50170328
22 TUBA1A NM_006009.3(TUBA1A): c.1204C> T (p.Arg402Cys) single nucleotide variant Pathogenic rs587784483 GRCh37 Chromosome 12, 49578945: 49578945
23 TUBA1A NM_006009.3(TUBA1A): c.1204C> T (p.Arg402Cys) single nucleotide variant Pathogenic rs587784483 GRCh38 Chromosome 12, 49185162: 49185162
24 SGCA NM_000023.3(SGCA): c.1120C> T (p.Arg374Cys) single nucleotide variant Benign/Likely benign rs35495899 GRCh37 Chromosome 17, 48252754: 48252754
25 SGCA NM_000023.3(SGCA): c.1120C> T (p.Arg374Cys) single nucleotide variant Benign/Likely benign rs35495899 GRCh38 Chromosome 17, 50175393: 50175393
26 SGCA NM_000023.3(SGCA): c.739G> A (p.Val247Met) single nucleotide variant Pathogenic/Likely pathogenic rs143570936 GRCh37 Chromosome 17, 48246607: 48246607
27 SGCA NM_000023.3(SGCA): c.739G> A (p.Val247Met) single nucleotide variant Pathogenic/Likely pathogenic rs143570936 GRCh38 Chromosome 17, 50169246: 50169246
28 SGCA NM_000023.3(SGCA): c.220C> T (p.Arg74Trp) single nucleotide variant Likely pathogenic rs757888349 GRCh37 Chromosome 17, 48245005: 48245005
29 SGCA NM_000023.3(SGCA): c.220C> T (p.Arg74Trp) single nucleotide variant Likely pathogenic rs757888349 GRCh38 Chromosome 17, 50167644: 50167644
30 SGCA NM_000023.3(SGCA): c.371T> C (p.Ile124Thr) single nucleotide variant Pathogenic/Likely pathogenic rs768814872 GRCh38 Chromosome 17, 50168005: 50168005
31 SGCA NM_000023.3(SGCA): c.371T> C (p.Ile124Thr) single nucleotide variant Pathogenic/Likely pathogenic rs768814872 GRCh37 Chromosome 17, 48245366: 48245366
32 SGCA NM_000023.3(SGCA): c.320C> T (p.Ala107Val) single nucleotide variant Uncertain significance rs186669379 GRCh37 Chromosome 17, 48245315: 48245315
33 SGCA NM_000023.3(SGCA): c.320C> T (p.Ala107Val) single nucleotide variant Uncertain significance rs186669379 GRCh38 Chromosome 17, 50167954: 50167954
34 SGCA NM_000023.3(SGCA): c.313-10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs569744194 GRCh37 Chromosome 17, 48245298: 48245298
35 SGCA NM_000023.3(SGCA): c.313-10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs569744194 GRCh38 Chromosome 17, 50167937: 50167937
36 SGCA NM_000023.3(SGCA): c.421C> A (p.Arg141Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs35130237 GRCh37 Chromosome 17, 48245770: 48245770
37 SGCA NM_000023.3(SGCA): c.421C> A (p.Arg141Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs35130237 GRCh38 Chromosome 17, 50168409: 50168409
38 SGCA NM_000023.2(SGCA): c.700G> A (p.Asp234Asn) single nucleotide variant Uncertain significance rs760608643 GRCh37 Chromosome 17, 48246568: 48246568
39 SGCA NM_000023.2(SGCA): c.700G> A (p.Asp234Asn) single nucleotide variant Uncertain significance rs760608643 GRCh38 Chromosome 17, 50169207: 50169207
40 SGCA NM_000023.3(SGCA): c.690G> C (p.Leu230=) single nucleotide variant Conflicting interpretations of pathogenicity rs139454982 GRCh37 Chromosome 17, 48246558: 48246558
41 SGCA NM_000023.3(SGCA): c.690G> C (p.Leu230=) single nucleotide variant Conflicting interpretations of pathogenicity rs139454982 GRCh38 Chromosome 17, 50169197: 50169197
42 SGCA NM_000023.3(SGCA): c.680C> G (p.Pro227Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs201131924 GRCh37 Chromosome 17, 48246548: 48246548
43 SGCA NM_000023.3(SGCA): c.680C> G (p.Pro227Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs201131924 GRCh38 Chromosome 17, 50169187: 50169187
44 SGCA NM_000023.2(SGCA): c.100C> T (p.Arg34Cys) single nucleotide variant Pathogenic/Likely pathogenic rs758647756 GRCh38 Chromosome 17, 50167430: 50167430
45 SGCA NM_000023.2(SGCA): c.100C> T (p.Arg34Cys) single nucleotide variant Pathogenic/Likely pathogenic rs758647756 GRCh37 Chromosome 17, 48244791: 48244791
46 SGCA NM_000023.3(SGCA): c.662G> A (p.Arg221His) single nucleotide variant Conflicting interpretations of pathogenicity rs138254713 GRCh37 Chromosome 17, 48246530: 48246530
47 SGCA NM_000023.3(SGCA): c.662G> A (p.Arg221His) single nucleotide variant Conflicting interpretations of pathogenicity rs138254713 GRCh38 Chromosome 17, 50169169: 50169169
48 SGCA NM_000023.3(SGCA): c.37+6T> C single nucleotide variant Uncertain significance rs751466815 GRCh37 Chromosome 17, 48243444: 48243444
49 SGCA NM_000023.3(SGCA): c.37+6T> C single nucleotide variant Uncertain significance rs751466815 GRCh38 Chromosome 17, 50166083: 50166083
50 SGCA NM_000023.3(SGCA): c.155T> G (p.Val52Gly) single nucleotide variant Uncertain significance rs148132791 GRCh37 Chromosome 17, 48244846: 48244846

Expression for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3

Search GEO for disease gene expression data for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3.

Pathways for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3

GO Terms for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3

Cellular components related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 8.96 SGCA TUBA1A
2 membrane raft GO:0045121 8.62 SGCA TUBA1A

Sources for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3

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