LGMDR6
MCID: MSC173
MIFTS: 46

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 (LGMDR6)

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

Aliases & Classifications for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6

MalaCards integrated aliases for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6:

Name: Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 57 72
Lgmd2f 57 20 58 72 54
Muscular Dystrophy, Limb-Girdle, Type 2f 57 72 13
Limb-Girdle Muscular Dystrophy Type 2f 20 58 70
Lgmdr6 57 72
Limb-Girdle Muscular Dystrophy Due to Delta-Sarcoglycan Deficiency 58
Muscular Dystrophy Limb-Girdle with Delta-Sarcoglyan Deficiency 20
Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6 58
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f 58
Muscular Dystrophy, Limb-Girdle, Type 2f; Lgmd2f 57
Dystrophy, Muscular, Limb-Girdle, Type 2f 39
Lgmd Due to Delta-Sarcoglycan Deficiency 58
Limb-Girdle Muscular Dystrophy, Type 2f 6
Delta-Sarcoglycan-Related Lgmd R6 58
Limb-Girdle Muscular Dystrophy 2f 72
Delta-Sarcoglycanopathy 58
Lgmd Type 2f 58

Characteristics:

Orphanet epidemiological data:

58
delta-sarcoglycan-related limb-girdle muscular dystrophy r6
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Childhood; Age of death: adolescent,late childhood,young Adult;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood (2 to 7 years)
most patients are wheelchair bound sometime in their second decade


HPO:

31
muscular dystrophy, limb-girdle, autosomal recessive 6:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM® 57 601287
OMIM Phenotypic Series 57 PS253600
MeSH 44 D049288
ICD10 via Orphanet 33 G71.0
UMLS via Orphanet 71 C1832525
Orphanet 58 ORPHA219
MedGen 41 C1832525
UMLS 70 C1832525

Summaries for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 219 Definition A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable age of onset of progressive weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated with progressive respiratory muscle impairment and cardiomyopathy. Calf hypertrophy, muscle cramps and elevated serum creatine kinase levels are also observed. Neuropsychomotor development is usually normal.

MalaCards based summary : Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6, also known as lgmd2f, is related to autosomal recessive limb-girdle muscular dystrophy type 2f and limb-girdle muscular dystrophy type 1a, and has symptoms including muscle weakness An important gene associated with Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 is SGCD (Sarcoglycan Delta), and among its related pathways/superpathways are Cardiac conduction and Allograft rejection. Affiliated tissues include skeletal muscle, and related phenotypes are facial palsy and scapular winging

UniProtKB/Swiss-Prot : 72 Muscular dystrophy, limb-girdle, autosomal recessive 6: An autosomal recessive degenerative myopathy initially affecting the proximal limb girdle musculature. Muscle from patients shows a complete loss of delta-sarcoglycan as well as of the others components of the sarcoglycan complex.

More information from OMIM: 601287 PS253600

Related Diseases for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6

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 6 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 91)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive limb-girdle muscular dystrophy type 2f 29.1 TCAP SGCG SGCD SGCB SGCA FKRP
2 limb-girdle muscular dystrophy type 1a 29.0 TTN TRIM32 TCAP FKRP DYSF CAPN3
3 muscular dystrophy, limb-girdle, autosomal recessive 4 28.2 TTN TRIM32 TCAP SGCB SGCA FKRP
4 muscular dystrophy, duchenne type 28.2 TTN TCAP SGCD SGCB SGCA DMD
5 limb-girdle muscular dystrophy 27.9 TTN TRIM32 TCAP SGCG SGCD SGCB
6 muscular dystrophy 27.2 TTN TRIM32 TCAP SGCG SGCD SGCB
7 autosomal recessive limb-girdle muscular dystrophy 27.0 TTN TRIM32 TCAP SGCG SGCD SGCB
8 muscular dystrophy, limb-girdle, autosomal recessive 2 26.9 TTN TRIM32 TCAP SGCG SGCD SGCB
9 myopathy 26.9 TTN TRIM32 TCAP SGCG SGCD SGCB
10 muscular dystrophy, limb-girdle, autosomal recessive 5 10.2
11 muscular dystrophy, limb-girdle, autosomal recessive 3 10.1
12 limb-girdle muscular dystrophy type 1c 10.1 FKRP DYSF
13 paresthesia 10.1 FKRP CAPN3
14 miyoshi muscular dystrophy 3 10.1 DYSF CAPN3
15 foot drop 10.1 TTN DYSF
16 autosomal recessive limb-girdle muscular dystrophy type 2q 10.1 TCAP SGCA
17 muscular dystrophy, limb-girdle, autosomal dominant 1 10.1 DYSF CAPN3
18 muscular dystrophy-dystroglycanopathy , type c, 2 10.1 FKRP CAPN3
19 myopathy, myofibrillar, 4 10.0 TTN TCAP
20 autosomal dominant limb-girdle muscular dystrophy 10.0 TCAP CAPN3
21 cardiomyopathy, dilated, 1l 10.0 SGCD SGCB
22 localized lipodystrophy 9.9 DYSF DMD
23 muscular dystrophy-dystroglycanopathy , type c, 4 9.9 FKRP DYSF CAPN3
24 epidermolysis bullosa simplex with muscular dystrophy 9.9 TTN TRIM32 FKRP
25 qualitative or quantitative defects of sarcoglycan 9.9
26 dysferlinopathy 9.9 SGCA DYSF CAPN3
27 myopathy, myofibrillar, 9, with early respiratory failure 9.9 TTN TCAP CAPN3
28 cardioneuromyopathy with hyaline masses and nemaline rods 9.8 TTN DMD
29 muscular dystrophy, limb-girdle, autosomal recessive 1 9.8 SGCB CAPN3
30 cobblestone lissencephaly 9.8 FKRP DMD
31 progressive muscular dystrophy 9.8 SGCA DMD
32 autosomal dominant distal myopathy 9.8 TTN DMD
33 muscular dystrophy-dystroglycanopathy , type c, 3 9.8 SGCG FKRP
34 reducing body myopathy 9.8 TTN DMD
35 mcleod syndrome 9.8 SGCA DMD
36 cardiomyopathy, familial hypertrophic, 4 9.7 TTN DMD
37 muscular dystrophy-dystroglycanopathy , type c, 1 9.7 SGCG SGCD SGCB FKRP
38 polyglucosan body myopathy 1 with or without immunodeficiency 9.7 FKRP DMD CAPN3
39 glycogen storage disease ii 9.7 FKRP DMD CAPN3
40 congenital muscular dystrophy-dystroglycanopathy type a 9.6 SGCA FKRP DMD
41 batten-turner congenital myopathy 9.6 TTN DYSF DMD
42 respiratory failure 9.6 TTN FKRP DMD
43 centronuclear myopathy 9.6 TTN DYSF DMD
44 muscular dystrophy-dystroglycanopathy , type a, 4 9.6 SGCA FKRP DMD
45 congenital fiber-type disproportion 9.6 TTN DYSF DMD
46 muscle hypertrophy 9.6 TTN FKRP DMD
47 myopathy, myofibrillar, 1 9.6 TTN DMD CAPN3
48 creatine phosphokinase, elevated serum 9.5 TRIM32 TCAP DMD CAPN3
49 atrial standstill 1 9.5 TTN FKRP DMD
50 intrinsic cardiomyopathy 9.5 TTN TCAP SGCD DMD

Graphical network of the top 20 diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6:



Diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6

Symptoms & Phenotypes for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6

Human phenotypes related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6:

58 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 facial palsy 58 31 frequent (33%) Frequent (79-30%) HP:0010628
2 scapular winging 58 31 frequent (33%) Frequent (79-30%) HP:0003691
3 proximal upper limb amyotrophy 58 31 frequent (33%) Frequent (79-30%) HP:0008948
4 proximal lower limb amyotrophy 58 31 frequent (33%) Frequent (79-30%) HP:0008956
5 generalized limb muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0009055
6 shuffling gait 58 31 frequent (33%) Frequent (79-30%) HP:0002362
7 elevated serum creatine kinase 31 HP:0003236
8 muscular dystrophy 31 HP:0003560
9 proximal amyotrophy 31 HP:0007126
10 calf muscle hypertrophy 31 HP:0008981
11 difficulty walking 31 HP:0002355
12 gowers sign 31 HP:0003391
13 ventricular hypertrophy 31 HP:0001714

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Muscle Soft Tissue:
muscle weakness
difficulty walking
gowers sign
calf hypertrophy
typical myopathic pattern seen on biopsy
more
Laboratory Abnormalities:
increased serum creatine kinase

Cardiovascular Heart:
ventricular hypertrophy

Clinical features from OMIM®:

601287 (Updated 20-May-2021)

UMLS symptoms related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6:


muscle weakness

MGI Mouse Phenotypes related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.86 DMD DYSF FKRP SGCD SGCG TCAP
2 cardiovascular system MP:0005385 9.81 CAPN3 DMD FKRP SGCA SGCB SGCD
3 homeostasis/metabolism MP:0005376 9.65 CAPN3 DMD DYSF FKRP SGCA SGCD
4 muscle MP:0005369 9.36 CAPN3 DMD DYSF FKRP SGCA SGCB

Drugs & Therapeutics for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6

Genetic Tests for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6

Anatomical Context for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6

MalaCards organs/tissues related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6:

40
Skeletal Muscle

Publications for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6

Articles related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6:

(show all 41)
# Title Authors PMID Year
1
A first missense mutation in the delta sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies. 61 57 6
9832045 1998
2
Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene. 61 6 57
8841194 1996
3
Mutations in the delta-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2). 6 57
10735275 1997
4
Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: from LGMD2A to LGMD2G. 61 54 57
10069710 1999
5
Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients. 61 6
17994539 2008
6
A homozygous nonsense mutation in delta-sarcoglycan exon 3 in a case of LGMD2F. 61 6
10838250 2000
7
Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD. 61 57
8776597 1996
8
229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. 57
30055862 2018
9
LGMD2E is the most common type of sarcoglycanopathies in the Iranian population. 6
28687063 2017
10
Clinical application of whole-exome sequencing across clinical indications. 6
26633542 2016
11
High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders. 6
26077850 2015
12
Does delta-sarcoglycan-associated autosomal-dominant cardiomyopathy exist? 6
19259135 2009
13
Spectrum of mutations in sarcoglycan genes in the Mumbai region of western India: high prevalence of 525del T. 6
19770540 2009
14
Revised spectrum of mutations in sarcoglycanopathies. 57
18285821 2008
15
Identification of functional domains in sarcoglycans essential for their interaction and plasma membrane targeting. 6
16524571 2006
16
Functional rescue of the sarcoglycan complex in the BIO 14.6 hamster using delta-sarcoglycan gene transfer. 57
9660967 1998
17
A new evidence for the maintenance of the sarcoglycan complex in muscle sarcolemma in spite of the primary absence of delta-SG protein. 61 54
17265058 2007
18
[Limb girdle muscular dystrophies]. 54 61
15316618 2004
19
Molecular bases of autosomal recessive limb-girdle muscular dystrophies. 54 61
14959561 2003
20
Further evidence for the organisation of the four sarcoglycans proteins within the dystrophin-glycoprotein complex. 54 61
10196712 1999
21
A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey. 61 54
9266733 1997
22
Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D). 61 54
9192266 1997
23
The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies. 54 61
8968750 1996
24
Clinical and genetic spectrum of sarcoglycanopathies in a large cohort of Chinese patients. 61
30764848 2019
25
Childhood onset limb-girdle muscular dystrophies in the Aegean part of Turkey. 61
30838351 2018
26
MRI in sarcoglycanopathies: a large international cohort study. 61
28889091 2018
27
SGCD Homozygous Nonsense Mutation (p.Arg97∗) Causing Limb-Girdle Muscular Dystrophy Type 2F (LGMD2F) in a Consanguineous Family, a Case Report. 61
30733730 2018
28
Exome sequencing reveals independent SGCD deletions causing limb girdle muscular dystrophy in Boston terriers. 61
28697784 2017
29
Natural disease history of mouse models for limb girdle muscular dystrophy types 2D and 2F. 61
28797108 2017
30
Chronic oral administration of Ang-(1-7) improves skeletal muscle, autonomic and locomotor phenotypes in muscular dystrophy. 61
24502705 2014
31
Genetic basis of limb-girdle muscular dystrophies: the 2014 update. 61
24843229 2014
32
δ-Sarcoglycan-deficient muscular dystrophy: from discovery to therapeutic approaches. 61
21798091 2011
33
Sarcoglycanopathies: can muscle immunoanalysis predict the genotype? 61
18996010 2008
34
Steroid treatment causes deterioration of myocardial function in the {delta}-sarcoglycan-deficient mouse model for dilated cardiomyopathy. 61
18495669 2008
35
Myostatin blockade improves function but not histopathology in a murine model of limb-girdle muscular dystrophy 2C. 61
18041051 2008
36
[Limb-girdle muscular dystrophy; update]. 61
15651352 2004
37
Disruption of dystroglycan axis by beta-dystroglycan processing in cardiomyopathic hamster muscle. 61
14678802 2003
38
[LGMD2C, LGMD2D, LGMD2E, LGMD2F]. 61
11555999 2001
39
A diagnostic fluorescent marker kit for six limb girdle muscular dystrophies. 61
10619713 1999
40
The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12. 61
9245996 1997
41
Characterization of delta-sarcoglycan, a novel component of the oligomeric sarcoglycan complex involved in limb-girdle muscular dystrophy. 61
8943294 1996

Variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6

ClinVar genetic disease variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6:

6 (show top 50) (show all 158)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SGCD NM_000337.5(SGCD):c.657del (p.Thr220fs) Deletion Pathogenic 8171 rs1369919728 GRCh37: 5:156184672-156184672
GRCh38: 5:156757661-156757661
2 SGCD NM_000337.5(SGCD):c.493C>T (p.Arg165Ter) SNV Pathogenic 8172 rs121909295 GRCh37: 5:156022052-156022052
GRCh38: 5:156595042-156595042
3 SGCD NM_000337.5(SGCD):c.89G>A (p.Trp30Ter) SNV Pathogenic 8173 rs121909296 GRCh37: 5:155771584-155771584
GRCh38: 5:156344574-156344574
4 SGCD NM_000337.5(SGCD):c.784G>A (p.Glu262Lys) SNV Pathogenic 8174 rs121909297 GRCh37: 5:156186312-156186312
GRCh38: 5:156759301-156759301
5 SGCD NM_000337.5(SGCD):c.391G>C (p.Ala131Pro) SNV Pathogenic 8177 rs267607045 GRCh37: 5:156021950-156021950
GRCh38: 5:156594940-156594940
6 SGCD NM_000337.5(SGCD):c.74_77dup (p.Ile27fs) Duplication Pathogenic 411697 rs1554094947 GRCh37: 5:155771566-155771567
GRCh38: 5:156344556-156344557
7 SGCD NM_000337.5(SGCD):c.493C>T (p.Arg165Ter) SNV Pathogenic 8172 rs121909295 GRCh37: 5:156022052-156022052
GRCh38: 5:156595042-156595042
8 SGCD NM_172244.3(SGCD):c.354_358del (p.Thr119fs) Deletion Pathogenic 946381 GRCh37: 5:156016299-156016303
GRCh38: 5:156589289-156589293
9 SGCD NC_000005.10:g.(?_156757561)_(156759410_?)del Deletion Pathogenic 584277 GRCh37: 5:156184572-156186421
GRCh38: 5:156757561-156759410
10 SGCD NC_000005.10:g.(?_156329567)_(156344687_?)del Deletion Pathogenic 831480 GRCh37: 5:155756577-155771697
GRCh38:
11 SGCD NC_000005.9:g.(?_155338082)_(156186411_?)del Deletion Pathogenic 832673 GRCh37: 5:155338082-156186411
GRCh38:
12 SGCD NM_000337.5(SGCD):c.4-1G>T SNV Likely pathogenic 583211 rs1554094927 GRCh37: 5:155771498-155771498
GRCh38: 5:156344488-156344488
13 SGCD NM_000337.5(SGCD):c.192+1G>A SNV Likely pathogenic 551052 rs1267810339 GRCh37: 5:155771688-155771688
GRCh38: 5:156344678-156344678
14 SGCD NM_000337.5(SGCD):c.69C>A (p.Tyr23Ter) SNV Likely pathogenic 553642 rs397517923 GRCh37: 5:155771564-155771564
GRCh38: 5:156344554-156344554
15 SGCD NM_000337.5(SGCD):c.663C>A (p.Cys221Ter) SNV Likely pathogenic 557026 rs1175344271 GRCh37: 5:156184679-156184679
GRCh38: 5:156757668-156757668
16 SGCD NM_000337.5(SGCD):c.618del (p.Gly207fs) Deletion Likely pathogenic 557061 rs1554137109 GRCh37: 5:156184631-156184631
GRCh38: 5:156757620-156757620
17 SGCD NM_000337.5(SGCD):c.294+1G>A SNV Likely pathogenic 165232 rs727503422 GRCh37: 5:155935713-155935713
GRCh38: 5:156508703-156508703
18 SGCD NM_000337.5(SGCD):c.699+1G>T SNV Likely pathogenic 558197 rs1554137130 GRCh37: 5:156184716-156184716
GRCh38: 5:156757705-156757705
19 SGCD NM_000337.5(SGCD):c.4-1G>A SNV Likely pathogenic 532691 rs1554094927 GRCh37: 5:155771498-155771498
GRCh38: 5:156344488-156344488
20 SGCD NM_000337.5(SGCD):c.98G>A (p.Arg33Gln) SNV Uncertain significance 532692 rs1488623227 GRCh37: 5:155771593-155771593
GRCh38: 5:156344583-156344583
21 SGCD NM_000337.5(SGCD):c.461A>G (p.Asn154Ser) SNV Uncertain significance 532693 rs759767804 GRCh37: 5:156022020-156022020
GRCh38: 5:156595010-156595010
22 SGCD NM_000337.5(SGCD):c.437G>T (p.Gly146Val) SNV Uncertain significance 532694 rs1438925313 GRCh37: 5:156021996-156021996
GRCh38: 5:156594986-156594986
23 SGCD NM_000337.5(SGCD):c.744T>G (p.His248Gln) SNV Uncertain significance 464020 rs1160680799 GRCh37: 5:156186272-156186272
GRCh38: 5:156759261-156759261
24 SGCD NM_000337.5(SGCD):c.434C>G (p.Ser145Cys) SNV Uncertain significance 464019 rs1324593212 GRCh37: 5:156021993-156021993
GRCh38: 5:156594983-156594983
25 SGCD NM_000337.5(SGCD):c.354G>T (p.Gln118His) SNV Uncertain significance 464018 rs770930747 GRCh37: 5:156016300-156016300
GRCh38: 5:156589290-156589290
26 SGCD NM_172244.3(SGCD):c.160A>G (p.Ile54Val) SNV Uncertain significance 202087 rs200671745 GRCh37: 5:155771655-155771655
GRCh38: 5:156344645-156344645
27 SGCD NM_000337.5(SGCD):c.451T>G (p.Ser151Ala) SNV Uncertain significance 8176 rs121909298 GRCh37: 5:156022010-156022010
GRCh38: 5:156595000-156595000
28 SGCD NM_000337.5(SGCD):c.92G>A (p.Arg31Gln) SNV Uncertain significance 196255 rs200476861 GRCh37: 5:155771587-155771587
GRCh38: 5:156344577-156344577
29 SGCD NM_000337.5(SGCD):c.394G>A (p.Val132Ile) SNV Uncertain significance 177914 rs367819390 GRCh37: 5:156021953-156021953
GRCh38: 5:156594943-156594943
30 SGCD NM_000337.5(SGCD):c.175G>T (p.Val59Phe) SNV Uncertain significance 464016 rs1274415049 GRCh37: 5:155771670-155771670
GRCh38: 5:156344660-156344660
31 SGCD NM_000337.5(SGCD):c.285G>C (p.Gln95His) SNV Uncertain significance 532690 rs1421460814 GRCh37: 5:155935703-155935703
GRCh38: 5:156508693-156508693
32 SGCD NM_000337.5(SGCD):c.494G>A (p.Arg165Gln) SNV Uncertain significance 165234 rs727503423 GRCh37: 5:156022053-156022053
GRCh38: 5:156595043-156595043
33 SGCD NM_000337.5(SGCD):c.767C>T (p.Thr256Met) SNV Uncertain significance 464021 rs578056399 GRCh37: 5:156186295-156186295
GRCh38: 5:156759284-156759284
34 SGCD NM_000337.5(SGCD):c.566A>G (p.Lys189Arg) SNV Uncertain significance 411709 rs538002169 GRCh37: 5:156074537-156074537
GRCh38: 5:156647527-156647527
35 SGCD NM_000337.5(SGCD):c.458A>G (p.Asp153Gly) SNV Uncertain significance 411706 rs752000538 GRCh37: 5:156022017-156022017
GRCh38: 5:156595007-156595007
36 SGCD NM_000337.5(SGCD):c.761C>T (p.Thr254Ile) SNV Uncertain significance 411707 rs372607729 GRCh37: 5:156186289-156186289
GRCh38: 5:156759278-156759278
37 SGCD NM_000337.5(SGCD):c.559C>T (p.Pro187Ser) SNV Uncertain significance 411708 rs769250018 GRCh37: 5:156074530-156074530
GRCh38: 5:156647520-156647520
38 SGCD NM_000337.5(SGCD):c.3+2T>A SNV Uncertain significance 556722 rs753979573 GRCh37: 5:155756591-155756591
GRCh38: 5:156329581-156329581
39 SGCD NM_000337.5(SGCD):c.-44+2T>G SNV Uncertain significance 556922 rs1300537737 GRCh37: 5:155754244-155754244
GRCh38: 5:156327234-156327234
40 SGCD NM_000337.5(SGCD):c.731C>T (p.Pro244Leu) SNV Uncertain significance 43356 rs375159661 GRCh37: 5:156186259-156186259
GRCh38: 5:156759248-156759248
41 SGCD NM_000337.5(SGCD):c.-43-1G>A SNV Uncertain significance 191774 rs767016855 GRCh37: 5:155756543-155756543
GRCh38: 5:156329533-156329533
42 SGCD NM_000337.5(SGCD):c.394G>A (p.Val132Ile) SNV Uncertain significance 177914 rs367819390 GRCh37: 5:156021953-156021953
GRCh38: 5:156594943-156594943
43 SGCD NM_000337.5(SGCD):c.-44+1G>C SNV Uncertain significance 557336 rs959438136 GRCh37: 5:155754243-155754243
GRCh38: 5:156327233-156327233
44 SGCD NM_000337.5(SGCD):c.268T>A (p.Tyr90Asn) SNV Uncertain significance 191775 rs786205286 GRCh37: 5:155935686-155935686
GRCh38: 5:156508676-156508676
45 SGCD NM_000337.5(SGCD):c.3+1G>A SNV Uncertain significance 557704 rs777787493 GRCh37: 5:155756590-155756590
GRCh38: 5:156329580-156329580
46 SGCD NM_000337.5(SGCD):c.775_777del (p.Lys259del) Deletion Uncertain significance 557718 rs1207864818 GRCh37: 5:156186301-156186303
GRCh38: 5:156759290-156759292
47 SGCD NM_000337.5(SGCD):c.383-33_383-13del Deletion Uncertain significance 557858 rs1554119747 GRCh37: 5:156021903-156021923
GRCh38: 5:156594893-156594913
48 SGCD NM_000337.5(SGCD):c.-139dup Duplication Uncertain significance 558030 rs1554093270 GRCh37: 5:155754146-155754147
GRCh38: 5:156327136-156327137
49 SGCD NM_000337.5(SGCD):c.-59G>A SNV Uncertain significance 177991 rs375477247 GRCh37: 5:155754227-155754227
GRCh38: 5:156327217-156327217
50 SGCD NM_000337.5(SGCD):c.559C>T (p.Pro187Ser) SNV Uncertain significance 411708 rs769250018 GRCh37: 5:156074530-156074530
GRCh38: 5:156647520-156647520

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6:

72
# Symbol AA change Variation ID SNP ID
1 SGCD p.Glu261Lys VAR_010396 rs121909297

Expression for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6

Search GEO for disease gene expression data for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6.

Pathways for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6

GO Terms for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6

Cellular components related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.07 TTN TRIM32 TCAP SGCG SGCD SGCB
2 plasma membrane GO:0005886 10.06 TTN SGCG SGCD SGCB SGCA FKRP
3 cytoskeleton GO:0005856 9.85 SGCG SGCD SGCB SGCA DMD
4 Z disc GO:0030018 9.56 TTN TCAP DMD CAPN3
5 T-tubule GO:0030315 9.49 DYSF CAPN3
6 myofibril GO:0030016 9.48 DMD CAPN3
7 dystrophin-associated glycoprotein complex GO:0016010 9.46 SGCD SGCB SGCA DMD
8 I band GO:0031674 9.43 TTN TCAP
9 dystroglycan complex GO:0016011 9.32 SGCB SGCA
10 sarcoglycan complex GO:0016012 9.26 SGCG SGCD SGCB SGCA
11 sarcolemma GO:0042383 9.17 SGCG SGCD SGCB SGCA FKRP DYSF

Biological processes related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.72 TTN SGCA DYSF
2 skeletal muscle tissue regeneration GO:0043403 9.6 SGCA DMD
3 cardiac muscle tissue development GO:0048738 9.59 SGCG SGCD
4 positive regulation of proteolysis GO:0045862 9.58 TRIM32 CAPN3
5 response to muscle stretch GO:0035994 9.58 TCAP DMD
6 heart contraction GO:0060047 9.57 SGCG SGCD
7 muscle fiber development GO:0048747 9.56 SGCB DMD
8 cardiac muscle tissue morphogenesis GO:0055008 9.54 TTN TCAP
9 cardiac myofibril assembly GO:0055003 9.52 TTN TCAP
10 response to denervation involved in regulation of muscle adaptation GO:0014894 9.51 SGCA DMD
11 cardiac muscle contraction GO:0060048 9.5 TTN TCAP DMD
12 cardiac muscle hypertrophy GO:0003300 9.49 TTN TCAP
13 cardiac muscle fiber development GO:0048739 9.48 TTN TCAP
14 detection of muscle stretch GO:0035995 9.46 TTN TCAP
15 skeletal muscle thin filament assembly GO:0030240 9.43 TTN TCAP
16 muscle filament sliding GO:0030049 9.43 TTN TCAP DMD
17 sarcomerogenesis GO:0048769 9.4 TTN TCAP
18 skeletal muscle myosin thick filament assembly GO:0030241 9.37 TTN TCAP
19 sarcomere organization GO:0045214 9.33 TTN TCAP CAPN3
20 muscle cell cellular homeostasis GO:0046716 9.13 TRIM32 DMD CAPN3
21 muscle organ development GO:0007517 9.1 SGCG SGCD SGCB SGCA DMD CAPN3

Molecular functions related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.62 TTN SGCA DYSF CAPN3
2 myosin binding GO:0017022 9.26 TRIM32 DMD
3 titin binding GO:0031432 9.16 TCAP CAPN3
4 dystroglycan binding GO:0002162 8.96 FKRP DMD
5 structural constituent of muscle GO:0008307 8.92 TTN TCAP DMD CAPN3

Sources for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6

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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