LGMDR3
MCID: MSC177
MIFTS: 42

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

Categories: Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory 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 57 72
Lgmd2d 57 20 58 72
Muscular Dystrophy, Limb-Girdle, Type 2d 57 72 13
Dmda2 57 20 72
Duchenne-Like Autosomal Recessive Muscular Dystrophy, Type 2 57 20
Severe Childhood Autosomal Recessive Muscular Dystrophy 72 70
Alpha-Sarcoglycanopathy 20 58
Adhalinopathy, Primary 57 6
Lgmdr3 57 72
Severe Autosomal Recessive Muscular Dystrophy of Childhood - North African Type 70
Duchenne-Like Autosomal Recessive Muscular Dystrophy, Type 2; Dmda2 57
Limb-Girdle Muscular Dystrophy Due to Alpha-Sarcoglycan Deficiency 58
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3 58
Duchenne-Like Muscular Dystrophy Autosomal Recessive Type 2 72
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d 58
Muscular Dystrophy Limb-Girdle with Alpha-Sarcoglycan 20
Muscular Dystrophy, Limb-Girdle, Type 2d; Lgmd2d 57
Dystrophy, Muscular, Limb-Girdle, Type 2d 39
Lgmd Due to Alpha-Sarcoglycan Deficiency 58
Limb-Girdle Muscular Dystrophy, Type 2d 20
Limb-Girdle Muscular Dystrophy Type 2d 58
Alpha-Sarcoglycan-Related Lgmd R3 58
Limb-Girdle Muscular Dystrophy 2d 72
Alpha-Sarcoglycanopathies 70
Adhalinopathy Primary 72
Lgmd Type 2d 58
Scarmd 72

Characteristics:

Orphanet epidemiological data:

58
alpha-sarcoglycan-related limb-girdle muscular dystrophy r3
Inheritance: Autosomal recessive; Age of onset: Adolescent,Childhood;

OMIM®:

57 (Updated 20-May-2021)
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, autosomal recessive 3:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity juvenile onset progressive


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM® 57 608099
OMIM Phenotypic Series 57 PS253600
MeSH 44 D049288
ICD10 via Orphanet 33 G71.0
UMLS via Orphanet 71 C1842550 C2936332
Orphanet 58 ORPHA62
UMLS 70 C0410173 C0456702 C2936332

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

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 62 Definition 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.

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 autosomal recessive limb-girdle muscular dystrophy. An important gene associated with Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 is SGCA (Sarcoglycan Alpha). Affiliated tissues include skeletal muscle, and related phenotypes are hyperlordosis and elevated serum creatine kinase

OMIM® : 57 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) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 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
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z
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 Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24

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

(show all 31)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive limb-girdle muscular dystrophy type 2d 31.6 TUBA1A SGCA
2 autosomal recessive limb-girdle muscular dystrophy 29.6 TUBA1A SGCA
3 muscular dystrophy, limb-girdle, autosomal recessive 5 11.2
4 autosomal recessive limb-girdle muscular dystrophy type 2c 11.0
5 sgce myoclonus-dystonia 10.4
6 chorea, childhood-onset, with psychomotor retardation 10.3
7 choreatic disease 10.3
8 myopathy 10.3
9 autosomal recessive disease 10.2
10 dysphagia 10.2
11 muscular dystrophy, becker type 10.2
12 muscular dystrophy, duchenne type 10.1
13 myoglobinuria 10.1
14 muscular dystrophy 10.1
15 muscular dystrophy, limb-girdle, autosomal recessive 6 10.0
16 muscular dystrophy, limb-girdle, autosomal recessive 4 10.0
17 dystrophinopathies 10.0
18 bethlem myopathy 1 10.0
19 muscular dystrophy, limb-girdle, autosomal recessive 1 10.0
20 metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 10.0
21 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.0
22 limb-girdle muscular dystrophy 9.9
23 qualitative or quantitative defects of sarcoglycan 9.9
24 cleft palate, isolated 9.9
25 macroglossia 9.9
26 muscular dystrophy, congenital, lmna-related 9.9
27 muscular atrophy 9.9
28 cleft lip 9.9
29 hypotonia 9.9
30 qualitative or quantitative defects of dystrophin 9.9
31 walker-warburg syndrome 9.5 TUBA1A SGCA

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:

58 31 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperlordosis 58 31 frequent (33%) Frequent (79-30%) HP:0003307
2 elevated serum creatine kinase 58 31 frequent (33%) Frequent (79-30%) HP:0003236
3 achilles tendon contracture 58 31 frequent (33%) Frequent (79-30%) HP:0001771
4 waddling gait 58 31 frequent (33%) Frequent (79-30%) HP:0002515
5 scapular winging 58 31 frequent (33%) Frequent (79-30%) HP:0003691
6 toe walking 58 31 frequent (33%) Frequent (79-30%) HP:0040083
7 muscular dystrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003560
8 frequent falls 58 31 frequent (33%) Frequent (79-30%) HP:0002359
9 gowers sign 58 31 frequent (33%) Frequent (79-30%) HP:0003391
10 difficulty climbing stairs 58 31 frequent (33%) Frequent (79-30%) HP:0003551
11 limited shoulder movement 58 31 frequent (33%) Frequent (79-30%) HP:0006467
12 calf muscle pseudohypertrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003707
13 thoracic scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002943
14 scoliosis 31 occasional (7.5%) HP:0002650
15 cardiomyopathy 31 occasional (7.5%) HP:0001638
16 flexion contracture 31 HP:0001371
17 limb-girdle muscular dystrophy 31 HP:0006785
18 emg: myopathic abnormalities 31 HP:0003458
19 calf muscle hypertrophy 31 HP:0008981
20 unsteady gait 31 HP:0002317
21 proximal muscle weakness 58 Frequent (79-30%)
22 limb-girdle muscle weakness 31 HP:0003325
23 limb-girdle muscle atrophy 31 HP:0003797

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Muscle Soft Tissue:
calf muscle hypertrophy
unsteady gait
limb-girdle muscle weakness
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 (Updated 20-May-2021)

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

26
# 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 Phase I/IIa Gene Transfer Clinical Trial for LGMD2D (Alpha-sarcoglycan Deficiency) Using scAAVrh74.tMCK.hSGCA Completed NCT01976091 Phase 1, Phase 2 scAAVrh74.tMCK.hSGCA
2 Phase I Gene Transfer of rAAV1.tMCK.Human-alpha-sarcoglycan for Limb Girdle Muscular Dystrophy Type 2D (LGMD2D) Completed NCT00494195 Phase 1
3 Journey: A Global, Multicenter, Longitudinal Study of the Natural History of Subjects With Limb Girdle Muscular Dystrophy (LGMD) Type 2E (LGMD2E/R4), Type 2D (LGMD2D/R3), and Type 2C (LGMD2C/R5) Recruiting NCT04475926

Search NIH Clinical Center for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3

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

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

MalaCards organs/tissues related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3:

40
Skeletal Muscle

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

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

(show top 50) (show all 113)
# Title Authors PMID Year
1
The first case of primary alpha-sarcoglycanopathy identified in Albania, in two siblings with homozygous alpha-sarcoglycan mutation. 6 57 61
22303798 2011
2
Limb-girdle muscular dystrophy type 2D gene therapy restores alpha-sarcoglycan and associated proteins. 61 57 6
19798725 2009
3
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. 61 6 57
8528203 1995
4
Revised spectrum of mutations in sarcoglycanopathies. 57 6
18285821 2008
5
Homozygous alpha-sarcoglycan mutation in two siblings: one asymptomatic and one steroid-responsive mild limb-girdle muscular dystrophy patient. 6 57
9585331 1998
6
Mutations in the sarcoglycan genes in patients with myopathy. 6 57
9032047 1997
7
Primary adhalin deficiency as a cause of muscular dystrophy in patients with normal dystrophin. 57 6
7668821 1995
8
Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity. 57 6
7663524 1995
9
Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy. 6 57
8069911 1994
10
Clinical and genetic spectrum of sarcoglycanopathies in a large cohort of Chinese patients. 61 6
30764848 2019
11
Repairing folding-defective α-sarcoglycan mutants by CFTR correctors, a potential therapy for limb-girdle muscular dystrophy 2D. 6 61
29351619 2018
12
Precise Correction of Disease Mutations in Induced Pluripotent Stem Cells Derived From Patients With Limb Girdle Muscular Dystrophy. 6 61
26916285 2016
13
Probable high prevalence of limb-girdle muscular dystrophy type 2D in Taiwan. 61 6
26944168 2016
14
Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic. 61 6
25135358 2014
15
Founder mutation for α-sarcoglycan-LGMD2D in a Magdalen Islands Acadian cluster. 6 61
21856579 2011
16
Sustained alpha-sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D. 57 61
21031578 2010
17
Sarcoglycanopathies: can muscle immunoanalysis predict the genotype? 6 61
18996010 2008
18
Lack of toxicity of alpha-sarcoglycan overexpression supports clinical gene transfer trial in LGMD2D. 61 57
18525034 2008
19
Mannosidase I inhibition rescues the human alpha-sarcoglycan R77C recurrent mutation. 6 61
18252745 2008
20
Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients. 6 61
17994539 2008
21
Enrichment of the R77C alpha-sarcoglycan gene mutation in Finnish LGMD2D patients. 6 61
15736300 2005
22
Respiratory insufficiency as a presenting symptom of LGMD2D in adulthood. 6 61
15298081 2004
23
Partial alpha-sarcoglycan deficiency with retention of the dystrophin-glycoprotein complex in a LGMD2D family. 61 6
10842281 2000
24
Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: from LGMD2A to LGMD2G. 61 57
10069710 1999
25
Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D). 61 6
9192266 1997
26
Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients. 6
30919934 2019
27
[Variant analysis for a pedigree affected with limb-girdle muscular dystrophy type 2D]. 6
30703231 2019
28
Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan. 6
30345904 2018
29
The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients. 6
30107846 2018
30
229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. 57
30055862 2018
31
Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing. 6
28403181 2017
32
Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt. 6
26934379 2016
33
Natural History of Cardiac and Respiratory Involvement, Prognosis and Predictive Factors for Long-Term Survival in Adult Patients with Limb Girdle Muscular Dystrophies Type 2C and 2D. 6
27120200 2016
34
Alpha-sarcoglycanopathy presenting as exercise intolerance and rhabdomyolysis in two adults. 6
26453141 2015
35
ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases. 6
26404900 2015
36
Exome sequencing as a second-tier diagnostic approach for clinically suspected dysferlinopathy patients. 6
25046369 2014
37
Left ventricular function in alpha-sarcoglycanopathy and gamma-sarcoglycanopathy. 6
24464767 2014
38
MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples. 6
25214167 2014
39
Unveiling the degradative route of the V247M α-sarcoglycan mutant responsible for LGMD-2D. 6
24565866 2014
40
Sarcolemmal alpha and gamma sarcoglycan protein deficiencies in Turkish siblings with a novel missense mutation in the alpha sarcoglycan gene. 6
24742800 2014
41
Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications. 6
22095924 2012
42
PlGF-MMP-9-expressing cells restore microcirculation and efficacy of cell therapy in aged dystrophic muscle. 57
18660817 2008
43
Inhibition of proteasome activity promotes the correct localization of disease-causing alpha-sarcoglycan mutants in HEK-293 cells constitutively expressing beta-, gamma-, and delta-sarcoglycan. 6
18535179 2008
44
Alpha vs. gamma sarcoglycanopathy: DNA tests solve a case from Argentina. 6
18421900 2007
45
Limb-girdle muscular dystrophy in the Netherlands: gene defect identified in half the families. 6
17562833 2007
46
Alpha-sarcoglycan is recycled from the plasma membrane in the absence of sarcoglycan complex assembly. 6
16787395 2006
47
Sarcoglycanopathies: a multiplex molecular analysis for the most common mutations. 6
16778590 2006
48
Genetic heterogeneity within a consanguineous family involving the LGMD 2D and the LGMD 2C genes. 6
16616845 2006
49
Splicing in action: assessing disease causing sequence changes. 6
16199547 2005
50
Proteolysis of beta-dystroglycan in muscular diseases. 6
15833425 2005

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

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

6 (show top 50) (show all 193)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SGCA NM_000023.4(SGCA):c.524T>C (p.Val175Ala) SNV Pathogenic 9436 rs137852622 GRCh37: 17:48245873-48245873
GRCh38: 17:50168512-50168512
2 SGCA NM_000023.4(SGCA):c.410A>G (p.Glu137Gly) SNV Pathogenic 9438 rs397514451 GRCh37: 17:48245759-48245759
GRCh38: 17:50168398-50168398
3 SGCA SGCA, TYR134TER Variation Pathogenic 9440 GRCh37:
GRCh38:
4 SGCA NM_000023.4(SGCA):c.100C>T (p.Arg34Cys) SNV Pathogenic 217250 rs758647756 GRCh37: 17:48244791-48244791
GRCh38: 17:50167430-50167430
5 SGCA NM_000023.4(SGCA):c.402C>G (p.Tyr134Ter) SNV Pathogenic 284945 rs780264754 GRCh37: 17:48245751-48245751
GRCh38: 17:50168390-50168390
6 SGCA NM_000023.4(SGCA):c.292C>T (p.Arg98Cys) SNV Pathogenic 284708 rs138945081 GRCh37: 17:48245077-48245077
GRCh38: 17:50167716-50167716
7 SGCA NM_000023.4(SGCA):c.348_352dup (p.Gln118fs) Duplication Pathogenic 471332 rs752640127 GRCh37: 17:48245341-48245342
GRCh38: 17:50167980-50167981
8 SGCA NM_000023.4(SGCA):c.391del (p.Leu131fs) Deletion Pathogenic 418990 rs144356125 GRCh37: 17:48245736-48245736
GRCh38: 17:50168375-50168375
9 SGCA NM_000023.4(SGCA):c.157G>A (p.Ala53Thr) SNV Pathogenic 281859 rs60407644 GRCh37: 17:48244848-48244848
GRCh38: 17:50167487-50167487
10 SGCA NM_000023.4(SGCA):c.724G>T (p.Val242Phe) SNV Pathogenic 471337 rs200166783 GRCh37: 17:48246592-48246592
GRCh38: 17:50169231-50169231
11 SGCA NM_000023.4(SGCA):c.322_325dup (p.Asn109fs) Duplication Pathogenic 497103 rs1555568518 GRCh37: 17:48245316-48245317
GRCh38: 17:50167955-50167956
12 SGCA NM_000023.4(SGCA):c.585-2A>C SNV Pathogenic 573660 rs1555568965 GRCh37: 17:48246451-48246451
GRCh38: 17:50169090-50169090
13 SGCA NM_000023.4(SGCA):c.236_237insA (p.Gln80fs) Insertion Pathogenic 581361 rs1567739339 GRCh37: 17:48245021-48245022
GRCh38: 17:50167660-50167661
14 SGCA NM_000023.4(SGCA):c.233_234delinsGA (p.Tyr78Ter) Indel Pathogenic 639468 rs1598265248 GRCh37: 17:48245018-48245019
GRCh38: 17:50167657-50167658
15 SGCA NM_000023.4(SGCA):c.186C>G (p.Tyr62Ter) SNV Pathogenic 582221 rs766400853 GRCh37: 17:48244971-48244971
GRCh38: 17:50167610-50167610
16 SGCA NM_000023.4(SGCA):c.658_659del (p.Ala220fs) Deletion Pathogenic 836857 GRCh37: 17:48246525-48246526
GRCh38: 17:50169164-50169165
17 SGCA NM_000023.4(SGCA):c.26dup (p.Leu10fs) Duplication Pathogenic 843937 GRCh37: 17:48243425-48243426
GRCh38: 17:50166064-50166065
18 SGCA NM_000023.4(SGCA):c.157+1G>A SNV Pathogenic 847344 GRCh37: 17:48244849-48244849
GRCh38: 17:50167488-50167488
19 SGCA NM_000023.4(SGCA):c.790_791dup (p.Gly265fs) Duplication Pathogenic 847583 GRCh37: 17:48247543-48247544
GRCh38: 17:50170182-50170183
20 SGCA NM_000023.4(SGCA):c.801dup (p.Ile268fs) Duplication Pathogenic 852690 GRCh37: 17:48247554-48247555
GRCh38: 17:50170193-50170194
21 SGCA NM_000023.4(SGCA):c.905T>G (p.Leu302Arg) SNV Pathogenic 857216 GRCh37: 17:48247661-48247661
GRCh38: 17:50170300-50170300
22 SGCA NM_000023.4(SGCA):c.408del (p.Glu137fs) Deletion Pathogenic 858005 GRCh37: 17:48245756-48245756
GRCh38: 17:50168395-50168395
23 SGCA NM_000023.4(SGCA):c.86dup (p.His29fs) Duplication Pathogenic 861179 GRCh37: 17:48244776-48244777
GRCh38: 17:50167415-50167416
24 SGCA NM_000023.4(SGCA):c.229C>T (p.Arg77Cys) SNV Pathogenic 9437 rs28933693 GRCh37: 17:48245014-48245014
GRCh38: 17:50167653-50167653
25 SGCA NM_000023.4(SGCA):c.574C>T (p.Arg192Ter) SNV Pathogenic 37202 rs387907298 GRCh37: 17:48245923-48245923
GRCh38: 17:50168562-50168562
26 SGCA NM_000023.4(SGCA):c.101G>A (p.Arg34His) SNV Pathogenic 92301 rs371675217 GRCh37: 17:48244792-48244792
GRCh38: 17:50167431-50167431
27 TUBA1A NM_006009.4(TUBA1A):c.1204C>T (p.Arg402Cys) SNV Pathogenic 160146 rs587784483 GRCh37: 12:49578945-49578945
GRCh38: 12:49185162-49185162
28 SGCA NM_000023.4(SGCA):c.409G>A (p.Glu137Lys) SNV Pathogenic/Likely pathogenic 286049 rs372210292 GRCh37: 17:48245758-48245758
GRCh38: 17:50168397-50168397
29 SGCA NM_000023.4(SGCA):c.293G>A (p.Arg98His) SNV Pathogenic/Likely pathogenic 9435 rs137852621 GRCh37: 17:48245078-48245078
GRCh38: 17:50167717-50167717
30 SGCA NM_000023.4(SGCA):c.739G>A (p.Val247Met) SNV Pathogenic/Likely pathogenic 167677 rs143570936 GRCh37: 17:48246607-48246607
GRCh38: 17:50169246-50169246
31 SGCA NM_000023.4(SGCA):c.850C>T (p.Arg284Cys) SNV Pathogenic/Likely pathogenic 9439 rs137852623 GRCh37: 17:48247606-48247606
GRCh38: 17:50170245-50170245
32 SGCA NM_000023.4(SGCA):c.92T>C (p.Leu31Pro) SNV Pathogenic/Likely pathogenic 550333 rs903823830 GRCh37: 17:48244783-48244783
GRCh38: 17:50167422-50167422
33 SGCA NM_000023.4(SGCA):c.371T>C (p.Ile124Thr) SNV Pathogenic/Likely pathogenic 188733 rs768814872 GRCh37: 17:48245366-48245366
GRCh38: 17:50168005-50168005
34 SGCA NM_000023.4(SGCA):c.220C>T (p.Arg74Trp) SNV Pathogenic/Likely pathogenic 188811 rs757888349 GRCh37: 17:48245005-48245005
GRCh38: 17:50167644-50167644
35 SGCA NM_000023.4(SGCA):c.403C>T (p.Gln135Ter) SNV Likely pathogenic 285818 rs886043221 GRCh37: 17:48245752-48245752
GRCh38: 17:50168391-50168391
36 SGCA NM_000023.4(SGCA):c.559del (p.Leu187fs) Deletion Likely pathogenic 370946 rs1057516888 GRCh37: 17:48245904-48245904
GRCh38: 17:50168543-50168543
37 SGCA NM_000023.4(SGCA):c.754_755del (p.Lys252fs) Deletion Likely pathogenic 371575 rs1057517377 GRCh37: 17:48247510-48247511
GRCh38: 17:50170149-50170150
38 SGCA NM_000023.4(SGCA):c.158-2A>G SNV Likely pathogenic 370189 rs1057516300 GRCh37: 17:48244941-48244941
GRCh38: 17:50167580-50167580
39 SGCA NM_000023.4(SGCA):c.488dup (p.Leu164fs) Duplication Likely pathogenic 370116 rs763986788 GRCh37: 17:48245831-48245832
GRCh38: 17:50168470-50168471
40 SGCA NM_000023.4(SGCA):c.313-2A>G SNV Likely pathogenic 370642 rs1057516650 GRCh37: 17:48245306-48245306
GRCh38: 17:50167945-50167945
41 SGCA NM_000023.4(SGCA):c.511C>T (p.Gln171Ter) SNV Likely pathogenic 370112 rs1057516242 GRCh37: 17:48245860-48245860
GRCh38: 17:50168499-50168499
42 SGCA NM_000023.4(SGCA):c.755del (p.Lys252fs) Deletion Likely pathogenic 370513 rs1057516548 GRCh37: 17:48247510-48247510
GRCh38: 17:50170149-50170149
43 SGCA NM_000023.4(SGCA):c.-1_9del (p.Met1fs) Deletion Likely pathogenic 371228 rs1057517107 GRCh37: 17:48243401-48243410
GRCh38: 17:50166040-50166049
44 SGCA NM_000023.4(SGCA):c.489del (p.Leu164fs) Deletion Likely pathogenic 290625 rs753650776 GRCh37: 17:48245838-48245838
GRCh38: 17:50168477-50168477
45 SGCA NM_000023.4(SGCA):c.580G>T (p.Glu194Ter) SNV Likely pathogenic 370656 rs1057516664 GRCh37: 17:48245929-48245929
GRCh38: 17:50168568-50168568
46 SGCA NM_000023.4(SGCA):c.846_847delinsT (p.Asp283fs) Indel Likely pathogenic 370737 rs1057516729 GRCh37: 17:48247602-48247603
GRCh38: 17:50170241-50170242
47 SGCA NM_000023.4(SGCA):c.480_481del (p.Leu161fs) Deletion Likely pathogenic 371273 rs1057517142 GRCh37: 17:48245829-48245830
GRCh38: 17:50168468-50168469
48 SGCA NM_000023.4(SGCA):c.209C>G (p.Pro70Arg) SNV Likely pathogenic 436698 rs1555568318 GRCh37: 17:48244994-48244994
GRCh38: 17:50167633-50167633
49 SGCA NM_000023.4(SGCA):c.584+1del Deletion Likely pathogenic 550424 rs1555568876 GRCh37: 17:48245932-48245932
GRCh38: 17:50168571-50168571
50 SGCA NM_000023.4(SGCA):c.1054G>T (p.Glu352Ter) SNV Likely pathogenic 550601 rs763372958 GRCh37: 17:48252688-48252688
GRCh38: 17:50175327-50175327

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

72 (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 rs155556839
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 rs155556833
29 SGCA p.Arg81Cys VAR_081099 rs398123098

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 TUBA1A SGCA
2 membrane raft GO:0045121 8.62 TUBA1A SGCA

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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