LGMDR6
MCID: MSC173
MIFTS: 44

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

Categories: Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare 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 58 76
Lgmd2f 58 54 60 76 56
Muscular Dystrophy, Limb-Girdle, Type 2f 58 76 13
Limb-Girdle Muscular Dystrophy, Type 2f 30 6
Lgmdr6 58 76
Limb-Girdle Muscular Dystrophy Due to Delta-Sarcoglycan Deficiency 60
Muscular Dystrophy Limb-Girdle with Delta-Sarcoglyan Deficiency 54
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f 60
Muscular Dystrophy, Limb-Girdle, Type 2f; Lgmd2f 58
Dystrophy, Muscular, Limb-Girdle, Type 2f 41
Limb-Girdle Muscular Dystrophy Type 2f 54
Limb-Girdle Muscular Dystrophy 2f 76
Delta-Sarcoglycanopathy 60

Characteristics:

Orphanet epidemiological data:

60
autosomal recessive limb-girdle muscular dystrophy type 2f
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Childhood; Age of death: adolescent,late childhood,young Adult;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
muscular dystrophy, limb-girdle, autosomal recessive 6:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

OMIM 58 601287
MeSH 45 D049288
ICD10 via Orphanet 35 G71.0
UMLS via Orphanet 75 C1832525
Orphanet 60 ORPHA219
MedGen 43 C1832525

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

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 219Disease definitionAutosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F) is 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.Visit the Orphanet disease page for more resources.

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 autosomal recessive limb-girdle muscular dystrophy, 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 scapular winging and facial palsy

UniProtKB/Swiss-Prot : 76 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.

Description from OMIM: 601287

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

(show top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive limb-girdle muscular dystrophy type 2f 31.0 CAPN3 DYSF SGCA SGCB SGCD SGCG
2 autosomal recessive limb-girdle muscular dystrophy 28.1 CAPN3 DMD DYSF FKRP SGCA SGCD
3 muscular dystrophy 27.3 CAPN3 DMD DYSF FKRP SGCA SGCB
4 limb-girdle muscular dystrophy 27.3 CAPN3 DMD DYSF FKRP SGCA SGCB
5 paresthesia 10.2 CAPN3 FKRP
6 dysferlinopathy 10.1 CAPN3 DYSF
7 tibial muscular dystrophy 10.1 CAPN3 TTN
8 localized lipodystrophy 10.0 DMD DYSF
9 creatine phosphokinase, elevated serum 10.0 DMD TCAP
10 muscular dystrophy, congenital, 1b 9.9 DMD FKRP
11 hypertrophic cardiomyopathy 9.9 SGCD TCAP TTN
12 muscle eye brain disease 9.9 FKRP SGCA
13 myopathy 9.9 CAPN3 DYSF TTN
14 stormorken syndrome 9.9 DMD DYSF
15 cardioneuromyopathy with hyaline masses and nemaline rods 9.9 DMD TTN
16 muscular dystrophy-dystroglycanopathy , type a, 1 9.9 DMD FKRP
17 autosomal recessive limb-girdle muscular dystrophy type 2l 9.9 DYSF FKRP SGCB
18 reducing body myopathy 9.9 DMD TTN
19 muscular dystrophy-dystroglycanopathy , type a, 4 9.9 DMD FKRP
20 muscular dystrophy, congenital merosin-deficient, 1a 9.8 DMD SGCA
21 mcleod syndrome 9.8 DMD SGCA
22 muscular dystrophy-dystroglycanopathy , type b, 6 9.8 DMD FKRP
23 muscular dystrophy-dystroglycanopathy , type b, 5 9.8 DMD FKRP
24 cardiomyopathy, dilated, 3b 9.7 DMD SGCA SGCD
25 centronuclear myopathy 9.7 DMD TTN
26 bethlem myopathy 1 9.7 CAPN3 DMD DYSF
27 polyglucosan body myopathy 1 with or without immunodeficiency 9.7 CAPN3 DMD FKRP
28 intrinsic cardiomyopathy 9.7 DMD TTN
29 myopathy, congenital 9.7 DMD DYSF
30 muscular dystrophy, becker type 9.7 DMD DYSF SGCA
31 myofibrillar myopathy 9.7 DMD TCAP TTN
32 rigid spine muscular dystrophy 1 9.7 DMD DYSF TTN
33 left ventricular noncompaction 9.7 DMD TCAP TTN
34 muscular dystrophy, congenital, lmna-related 9.7 DMD FKRP TTN
35 atrial standstill 1 9.6 DMD FKRP TTN
36 walker-warburg syndrome 9.6 DMD FKRP SGCA
37 congenital fiber-type disproportion 9.6 DMD DYSF
38 familial isolated dilated cardiomyopathy 9.5 DMD SGCD TCAP TTN
39 autosomal recessive limb-girdle muscular dystrophy type 2j 9.5 CAPN3 FKRP SGCB TTN
40 arrhythmogenic right ventricular cardiomyopathy 9.5 DMD SGCA TTN
41 isolated hyperckemia 9.5 CAPN3 DMD FKRP TCAP
42 autosomal recessive limb-girdle muscular dystrophy type 2g 9.5 CAPN3 DYSF SGCB SGCG TCAP
43 autosomal recessive limb-girdle muscular dystrophy type 2h 9.5 CAPN3 FKRP SGCB SGCG TRIM32
44 miyoshi muscular dystrophy 9.4 CAPN3 DMD DYSF TTN
45 myositis 9.4 CAPN3 DMD DYSF TTN
46 muscular dystrophy, limb-girdle, autosomal recessive 8 9.3 CAPN3 DYSF FKRP TCAP TRIM32 TTN
47 muscular dystrophy-dystroglycanopathy , type c, 5 9.3 CAPN3 DYSF FKRP TCAP TRIM32 TTN
48 autosomal recessive limb-girdle muscular dystrophy type 2d 9.0 CAPN3 DYSF FKRP SGCA SGCB SGCD
49 autosomal recessive limb-girdle muscular dystrophy type 2b 8.9 CAPN3 DMD DYSF SGCA SGCB SGCG
50 muscle tissue disease 8.9 CAPN3 DMD DYSF FKRP SGCA SGCD

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:

60 33 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scapular winging 60 33 Frequent (79-30%) HP:0003691
2 facial palsy 60 Frequent (79-30%)
3 proximal upper limb amyotrophy 60 Frequent (79-30%)
4 proximal lower limb amyotrophy 60 Frequent (79-30%)
5 difficulty walking 33 HP:0002355
6 muscular dystrophy 33 HP:0003560
7 generalized limb muscle atrophy 60 Frequent (79-30%)
8 shuffling gait 60 Frequent (79-30%)
9 proximal amyotrophy 33 HP:0007126
10 gowers sign 33 HP:0003391
11 calf muscle hypertrophy 33 HP:0008981
12 ventricular hypertrophy 33 HP:0001714
13 elevated serum creatine kinase 33 HP:0003236

Symptoms via clinical synopsis from OMIM:

58
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

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:

47
# 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

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

# Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy, Type 2f 30 SGCD

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

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

42
Skeletal Muscle

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

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

# Title Authors Year
1
SGCD Homozygous Nonsense Mutation (p.Arg97∗) Causing Limb-Girdle Muscular Dystrophy Type 2F (LGMD2F) in a Consanguineous Family, a Case Report. ( 30733730 )
2018
2
Alpha7beta1 integrin does not alleviate disease in a mouse model of limb girdle muscular dystrophy type 2F. ( 17255329 )
2007
3
A homozygous nonsense mutation in delta-sarcoglycan exon 3 in a case of LGMD2F. ( 10838250 )
2000
4
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. ( 9832045 )
1998

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

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

76
# Symbol AA change Variation ID SNP ID
1 SGCD p.Glu261Lys VAR_010396 rs121909297

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

6 (show top 50) (show all 455)
# Gene Variation Type Significance SNP ID Assembly Location
1 SGCD NM_000337.5(SGCD): c.226G> T (p.Gly76Cys) single nucleotide variant Likely benign rs376659221 GRCh37 Chromosome 5, 155935644: 155935644
2 SGCD NM_000337.5(SGCD): c.226G> T (p.Gly76Cys) single nucleotide variant Likely benign rs376659221 GRCh38 Chromosome 5, 156508634: 156508634
3 SGCD NM_000337.5(SGCD): c.-378G> T single nucleotide variant Uncertain significance rs531296131 GRCh37 Chromosome 5, 155753908: 155753908
4 SGCD NM_000337.5(SGCD): c.-378G> T single nucleotide variant Uncertain significance rs531296131 GRCh38 Chromosome 5, 156326898: 156326898
5 SGCD NM_000337.5(SGCD): c.-44G> T single nucleotide variant Uncertain significance rs727503420 GRCh37 Chromosome 5, 155754242: 155754242
6 SGCD NM_000337.5(SGCD): c.-44G> T single nucleotide variant Uncertain significance rs727503420 GRCh38 Chromosome 5, 156327232: 156327232
7 SGCD NM_000337.5(SGCD): c.193-12G> T single nucleotide variant Conflicting interpretations of pathogenicity rs727503421 GRCh37 Chromosome 5, 155935599: 155935599
8 SGCD NM_000337.5(SGCD): c.193-12G> T single nucleotide variant Conflicting interpretations of pathogenicity rs727503421 GRCh38 Chromosome 5, 156508589: 156508589
9 SGCD NM_000337.5(SGCD): c.383-17_383-10delCTCTCTAT deletion Conflicting interpretations of pathogenicity rs727504998 GRCh38 Chromosome 5, 156594915: 156594922
10 SGCD NM_000337.5(SGCD): c.383-17_383-10delCTCTCTAT deletion Conflicting interpretations of pathogenicity rs727504998 GRCh37 Chromosome 5, 156021925: 156021932
11 SGCD NM_000337.5(SGCD): c.394G> A (p.Val132Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs367819390 GRCh37 Chromosome 5, 156021953: 156021953
12 SGCD NM_000337.5(SGCD): c.394G> A (p.Val132Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs367819390 GRCh38 Chromosome 5, 156594943: 156594943
13 SGCD NM_000337.5(SGCD): c.699+72A> C single nucleotide variant Uncertain significance rs376317697 GRCh37 Chromosome 5, 156184787: 156184787
14 SGCD NM_000337.5(SGCD): c.699+72A> C single nucleotide variant Uncertain significance rs376317697 GRCh38 Chromosome 5, 156757776: 156757776
15 SGCD NM_000337.5(SGCD): c.-404G> A single nucleotide variant Likely benign rs192662989 GRCh37 Chromosome 5, 155753882: 155753882
16 SGCD NM_000337.5(SGCD): c.-404G> A single nucleotide variant Likely benign rs192662989 GRCh38 Chromosome 5, 156326872: 156326872
17 SGCD NM_000337.5(SGCD): c.-352T> C single nucleotide variant Uncertain significance rs727503419 GRCh37 Chromosome 5, 155753934: 155753934
18 SGCD NM_000337.5(SGCD): c.-352T> C single nucleotide variant Uncertain significance rs727503419 GRCh38 Chromosome 5, 156326924: 156326924
19 SGCD NM_000337.5(SGCD): c.-59G> A single nucleotide variant Uncertain significance rs375477247 GRCh37 Chromosome 5, 155754227: 155754227
20 SGCD NM_000337.5(SGCD): c.-59G> A single nucleotide variant Uncertain significance rs375477247 GRCh38 Chromosome 5, 156327217: 156327217
21 SGCD NM_000337.5(SGCD): c.-44+11G> A single nucleotide variant Conflicting interpretations of pathogenicity rs184722381 GRCh37 Chromosome 5, 155754253: 155754253
22 SGCD NM_000337.5(SGCD): c.-44+11G> A single nucleotide variant Conflicting interpretations of pathogenicity rs184722381 GRCh38 Chromosome 5, 156327243: 156327243
23 SGCD NM_000337.5(SGCD): c.4-12C> T single nucleotide variant Uncertain significance rs727504580 GRCh38 Chromosome 5, 156344477: 156344477
24 SGCD NM_000337.5(SGCD): c.4-12C> T single nucleotide variant Uncertain significance rs727504580 GRCh37 Chromosome 5, 155771487: 155771487
25 SGCD NM_000337.5(SGCD): c.177C> T (p.Val59=) single nucleotide variant Likely benign rs727505265 GRCh37 Chromosome 5, 155771672: 155771672
26 SGCD NM_000337.5(SGCD): c.177C> T (p.Val59=) single nucleotide variant Likely benign rs727505265 GRCh38 Chromosome 5, 156344662: 156344662
27 SGCD NM_000337.5(SGCD): c.294+1G> A single nucleotide variant Likely pathogenic rs727503422 GRCh37 Chromosome 5, 155935713: 155935713
28 SGCD NM_000337.5(SGCD): c.294+1G> A single nucleotide variant Likely pathogenic rs727503422 GRCh38 Chromosome 5, 156508703: 156508703
29 SGCD NM_000337.5(SGCD): c.494G> A (p.Arg165Gln) single nucleotide variant Uncertain significance rs727503423 GRCh37 Chromosome 5, 156022053: 156022053
30 SGCD NM_000337.5(SGCD): c.494G> A (p.Arg165Gln) single nucleotide variant Uncertain significance rs727503423 GRCh38 Chromosome 5, 156595043: 156595043
31 SGCD NM_000337.5(SGCD): c.-43-1G> A single nucleotide variant Uncertain significance rs767016855 GRCh38 Chromosome 5, 156329533: 156329533
32 SGCD NM_000337.5(SGCD): c.-43-1G> A single nucleotide variant Uncertain significance rs767016855 GRCh37 Chromosome 5, 155756543: 155756543
33 SGCD NM_000337.5(SGCD): c.268T> A (p.Tyr90Asn) single nucleotide variant Uncertain significance rs786205286 GRCh37 Chromosome 5, 155935686: 155935686
34 SGCD NM_000337.5(SGCD): c.268T> A (p.Tyr90Asn) single nucleotide variant Uncertain significance rs786205286 GRCh38 Chromosome 5, 156508676: 156508676
35 SGCD NM_000337.5(SGCD): c.92G> A (p.Arg31Gln) single nucleotide variant Uncertain significance rs200476861 GRCh37 Chromosome 5, 155771587: 155771587
36 SGCD NM_000337.5(SGCD): c.92G> A (p.Arg31Gln) single nucleotide variant Uncertain significance rs200476861 GRCh38 Chromosome 5, 156344577: 156344577
37 SGCD NM_000337.5(SGCD): c.32G> A (p.Arg11Gln) single nucleotide variant Uncertain significance rs752548592 GRCh37 Chromosome 5, 155771527: 155771527
38 SGCD NM_000337.5(SGCD): c.32G> A (p.Arg11Gln) single nucleotide variant Uncertain significance rs752548592 GRCh38 Chromosome 5, 156344517: 156344517
39 SGCD NM_000337.5(SGCD): c.15G> C (p.Glu5Asp) single nucleotide variant Benign/Likely benign rs549319429 GRCh38 Chromosome 5, 156344500: 156344500
40 SGCD NM_000337.5(SGCD): c.15G> C (p.Glu5Asp) single nucleotide variant Benign/Likely benign rs549319429 GRCh37 Chromosome 5, 155771510: 155771510
41 SGCD NM_000337.5(SGCD): c.160A> G (p.Ile54Val) single nucleotide variant Uncertain significance rs200671745 GRCh37 Chromosome 5, 155771655: 155771655
42 SGCD NM_000337.5(SGCD): c.160A> G (p.Ile54Val) single nucleotide variant Uncertain significance rs200671745 GRCh38 Chromosome 5, 156344645: 156344645
43 SGCD NM_000337.5(SGCD): c.191T> C (p.Ile64Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs376780156 GRCh38 Chromosome 5, 156344676: 156344676
44 SGCD NM_000337.5(SGCD): c.191T> C (p.Ile64Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs376780156 GRCh37 Chromosome 5, 155771686: 155771686
45 SGCD NM_000337.5(SGCD): c.402T> C (p.Ala134=) single nucleotide variant Conflicting interpretations of pathogenicity rs190935424 GRCh38 Chromosome 5, 156594951: 156594951
46 SGCD NM_000337.5(SGCD): c.402T> C (p.Ala134=) single nucleotide variant Conflicting interpretations of pathogenicity rs190935424 GRCh37 Chromosome 5, 156021961: 156021961
47 SGCD SGCD, 1-BP DEL, 656C deletion Pathogenic
48 SGCD NM_000337.5(SGCD): c.493C> T (p.Arg165Ter) single nucleotide variant Pathogenic rs121909295 GRCh37 Chromosome 5, 156022052: 156022052
49 SGCD NM_000337.5(SGCD): c.493C> T (p.Arg165Ter) single nucleotide variant Pathogenic rs121909295 GRCh38 Chromosome 5, 156595042: 156595042
50 SGCD NM_000337.5(SGCD): c.89G> A (p.Trp30Ter) single nucleotide variant Pathogenic rs121909296 GRCh37 Chromosome 5, 155771584: 155771584

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.35 DMD DYSF TCAP TTN
2
Show member pathways
12.29 DMD SGCA SGCB SGCD SGCG
3
Show member pathways
11.84 CAPN3 DMD SGCA SGCB SGCD SGCG
4
Show member pathways
11.35 DMD SGCA SGCB SGCD SGCG TTN
5 11.29 DMD TCAP TTN

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 cytoskeleton GO:0005856 9.8 DMD SGCA SGCB SGCD SGCG
2 Z disc GO:0030018 9.62 CAPN3 DMD TCAP TTN
3 sarcoglycan complex GO:0016012 9.56 SGCA SGCB SGCD SGCG
4 myofibril GO:0030016 9.48 CAPN3 DMD
5 T-tubule GO:0030315 9.46 CAPN3 DYSF
6 dystroglycan complex GO:0016011 9.46 SGCA SGCB SGCD SGCG
7 I band GO:0031674 9.37 TCAP TTN
8 dystrophin-associated glycoprotein complex GO:0016010 9.26 DMD SGCA SGCB SGCD
9 sarcolemma GO:0042383 9.17 DMD DYSF FKRP SGCA SGCB SGCD
10 plasma membrane GO:0005886 10.1 CAPN3 DMD DYSF FKRP SGCA SGCB
11 cytoplasm GO:0005737 10.09 CAPN3 DMD SGCA SGCB SGCD SGCG

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.7 DYSF SGCA TTN
2 cardiac muscle contraction GO:0060048 9.61 DMD TCAP TTN
3 cardiac muscle tissue morphogenesis GO:0055008 9.59 TCAP TTN
4 cardiac myofibril assembly GO:0055003 9.58 TCAP TTN
5 positive regulation of proteolysis GO:0045862 9.58 CAPN3 TRIM32
6 cardiac muscle fiber development GO:0048739 9.57 TCAP TTN
7 response to muscle stretch GO:0035994 9.56 DMD TCAP
8 heart contraction GO:0060047 9.55 SGCD SGCG
9 skeletal muscle thin filament assembly GO:0030240 9.54 TCAP TTN
10 sarcomere organization GO:0045214 9.54 CAPN3 TCAP TTN
11 cardiac muscle hypertrophy GO:0003300 9.51 TCAP TTN
12 muscle filament sliding GO:0030049 9.5 DMD TCAP TTN
13 response to denervation involved in regulation of muscle adaptation GO:0014894 9.49 DMD SGCA
14 skeletal muscle myosin thick filament assembly GO:0030241 9.48 TCAP TTN
15 detection of muscle stretch GO:0035995 9.46 TCAP TTN
16 skeletal muscle tissue regeneration GO:0043403 9.43 DMD DYSF SGCA
17 sarcomerogenesis GO:0048769 9.4 TCAP TTN
18 muscle cell cellular homeostasis GO:0046716 9.33 CAPN3 DMD TRIM32
19 muscle fiber development GO:0048747 9.13 DMD DYSF SGCB
20 muscle organ development GO:0007517 9.1 CAPN3 DMD SGCA SGCB SGCD SGCG

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 CAPN3 DYSF SGCA TTN
2 protein self-association GO:0043621 9.37 TRIM32 TTN
3 myosin binding GO:0017022 9.26 DMD TRIM32
4 titin binding GO:0031432 9.16 CAPN3 TCAP
5 dystroglycan binding GO:0002162 8.96 DMD FKRP
6 structural constituent of muscle GO:0008307 8.92 CAPN3 DMD TCAP TTN

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
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41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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