LGMD2D
MCID: MSC177
MIFTS: 37

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 (LGMD2D)

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 57
Lgmd2d 57 53 59 75
Limb-Girdle Muscular Dystrophy, Type 2d 53 29 6
Dmda2 57 53 75
Duchenne-Like Autosomal Recessive Muscular Dystrophy, Type 2 57 53
Muscular Dystrophy, Limb-Girdle, Type 2d 57 13
Alpha-Sarcoglycanopathy 53 59
Adhalinopathy, Primary 57 13
Duchenne-Like Autosomal Recessive Muscular Dystrophy, Type 2; Dmda2 57
Limb-Girdle Muscular Dystrophy Due to Alpha-Sarcoglycan Deficiency 59
Duchenne-Like Muscular Dystrophy Autosomal Recessive Type 2 75
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d 59
Severe Childhood Autosomal Recessive Muscular Dystrophy 75
Muscular Dystrophy Limb-Girdle with Alpha-Sarcoglycan 53
Muscular Dystrophy, Limb-Girdle, Type 2d; Lgmd2d 57
Dystrophy, Muscular, Limb-Girdle, Type 2d 40
Limb-Girdle Muscular Dystrophy 2d 75
Adhalinopathy Primary 75
Scarmd 75
Lgmdr3 57

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, autosomal recessive 3:
Onset and clinical course variable expressivity juvenile onset progressive
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 608099
Orphanet 59 ORPHA62
ICD10 via Orphanet 34 G71.0
UMLS via Orphanet 74 C1842550 C2936332
MeSH 44 D049288

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

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, 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 elevated serum creatine phosphokinase and scoliosis

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)

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, 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 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 2r
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1f
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g

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

(show all 11)
# 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 11.3
3 autosomal recessive limb-girdle muscular dystrophy type 2c 11.1
4 muscular dystrophy 10.1
5 bethlem myopathy 1 10.1
6 muscular dystrophy, duchenne type 10.1
7 myoglobinuria 10.1
8 myopathy 10.1
9 muscular dystrophy, congenital, lmna-related 10.0
10 autosomal recessive limb-girdle muscular dystrophy 10.0
11 limb-girdle muscular dystrophy 10.0

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

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 elevated serum creatine phosphokinase 59 32 Frequent (79-30%) HP:0003236
2 scoliosis 32 occasional (7.5%) HP:0002650
3 hyperlordosis 59 Frequent (79-30%)
4 flexion contracture 32 HP:0001371
5 cardiomyopathy 32 occasional (7.5%) HP:0001638
6 limb-girdle muscular dystrophy 32 HP:0006785
7 achilles tendon contracture 59 Frequent (79-30%)
8 waddling gait 59 Frequent (79-30%)
9 scapular winging 59 Frequent (79-30%)
10 toe walking 59 Frequent (79-30%)
11 proximal muscle weakness 59 Frequent (79-30%)
12 muscular dystrophy 59 Frequent (79-30%)
13 limb-girdle muscle weakness 32 HP:0003325
14 frequent falls 59 Frequent (79-30%)
15 gowers sign 59 Frequent (79-30%)
16 difficulty climbing stairs 59 Frequent (79-30%)
17 calf muscle hypertrophy 32 HP:0008981
18 calf muscle pseudohypertrophy 59 Frequent (79-30%)
19 limited shoulder movement 59 Frequent (79-30%)
20 thoracic scoliosis 59 Occasional (29-5%)
21 unsteady gait 32 HP:0002317
22 limb-girdle muscle atrophy 32 HP:0003797
23 emg 32 HP:0003458

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

Search Clinical Trials , 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 29 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:

# Title Authors Year
1
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
2
Probable high prevalence of limb-girdle muscular dystrophy type 2D in Taiwan. ( 26944168 )
2016
3
LGMD2D syndrome: the importance of clinical and molecular genetics in patient and family management. Case Report. ( 27857043 )
2016
4
Sustained alpha-sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D. ( 21031578 )
2010
5
Limb-girdle muscular dystrophy type 2D gene therapy restores alpha-sarcoglycan and associated proteins. ( 19798725 )
2009

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

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

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 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

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

6 (show top 50) (show all 251)
# 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.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_000023.3(SGCA): c.700G> A (p.Asp234Asn) single nucleotide variant Uncertain significance rs760608643 GRCh37 Chromosome 17, 48246568: 48246568
39 SGCA NM_000023.3(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_000023.3(SGCA): c.100C> T (p.Arg34Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs758647756 GRCh38 Chromosome 17, 50167430: 50167430
45 SGCA NM_000023.3(SGCA): c.100C> T (p.Arg34Cys) single nucleotide variant Conflicting interpretations of pathogenicity 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.530delC (p.Ser177Leufs) deletion Pathogenic rs886041387 GRCh37 Chromosome 17, 48245879: 48245879
49 SGCA NM_000023.3(SGCA): c.530delC (p.Ser177Leufs) deletion Pathogenic rs886041387 GRCh38 Chromosome 17, 50168518: 50168518
50 SGCA NM_000023.3(SGCA): c.518T> C (p.Leu173Pro) single nucleotide variant Pathogenic rs143962150 GRCh37 Chromosome 17, 48245867: 48245867

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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