LGMD2F
MCID: MSC173
MIFTS: 46

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 (LGMD2F)

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 57
Lgmd2f 57 53 59 75 55
Muscular Dystrophy, Limb-Girdle, Type 2f 57 13
Limb-Girdle Muscular Dystrophy, Type 2f 29 6
Limb-Girdle Muscular Dystrophy Due to Delta-Sarcoglycan Deficiency 59
Muscular Dystrophy Limb-Girdle with Delta-Sarcoglyan Deficiency 53
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f 59
Muscular Dystrophy, Limb-Girdle, Type 2f; Lgmd2f 57
Dystrophy, Muscular, Limb-Girdle, Type 2f 40
Limb-Girdle Muscular Dystrophy Type 2f 53
Limb-Girdle Muscular Dystrophy 2f 75
Delta-Sarcoglycanopathy 59
Lgmdr6 57

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
autosomal recessive

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


HPO:

32
muscular dystrophy, limb-girdle, autosomal recessive 6:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 601287
Orphanet 59 ORPHA219
UMLS via Orphanet 74 C1832525
ICD10 via Orphanet 34 G71.0
MedGen 42 C1832525
MeSH 44 D049288

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

NIH Rare Diseases : 53 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, brain and eye, and related phenotypes are scapular winging and facial palsy

UniProtKB/Swiss-Prot : 75 Limb-girdle muscular dystrophy 2F: 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 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 6 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 58)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive limb-girdle muscular dystrophy type 2f 31.4 CAPN3 DYSF SGCA SGCB SGCD SGCG
2 autosomal recessive limb-girdle muscular dystrophy 28.8 CAPN3 DMD DYSF FKRP SGCA SGCD
3 muscular dystrophy 28.3 CAPN3 DMD DYSF FKRP SGCA SGCB
4 limb-girdle muscular dystrophy 28.3 CAPN3 DMD DYSF FKRP SGCA SGCB
5 autosomal dominant limb-girdle muscular dystrophy type 1c 10.1 DYSF FKRP
6 paresthesia 10.1 CAPN3 FKRP
7 dysferlinopathy 10.1 CAPN3 DYSF
8 tibial muscular dystrophy 10.1 CAPN3 TTN
9 autosomal dominant limb-girdle muscular dystrophy type 1a 10.0 CAPN3 FKRP TRIM32
10 localized lipodystrophy 10.0 DMD DYSF
11 creatine phosphokinase, elevated serum 10.0 DMD TCAP
12 muscular dystrophy, congenital, 1b 10.0 DMD FKRP
13 hypertrophic cardiomyopathy 10.0 SGCD TCAP TTN
14 myopathy 9.9 CAPN3 DYSF TTN
15 muscle eye brain disease 9.9 FKRP SGCA
16 stormorken syndrome 9.9 DMD DYSF
17 cardioneuromyopathy with hyaline masses and nemaline rods 9.9 DMD TTN
18 autosomal recessive limb-girdle muscular dystrophy type 2l 9.9 DYSF FKRP SGCB
19 muscular dystrophy-dystroglycanopathy , type a, 1 9.9 DMD FKRP
20 reducing body myopathy 9.9 DMD TTN
21 muscular dystrophy-dystroglycanopathy , type a, 4 9.9 DMD FKRP
22 muscular dystrophy, congenital merosin-deficient, 1a 9.9 DMD SGCA
23 mcleod syndrome 9.9 DMD SGCA
24 muscular dystrophy-dystroglycanopathy , type b, 6 9.9 DMD FKRP
25 muscular dystrophy-dystroglycanopathy , type b, 5 9.9 DMD FKRP
26 cardiomyopathy, dilated, 3b 9.8 DMD SGCA SGCD
27 centronuclear myopathy 9.8 DMD TTN
28 bethlem myopathy 1 9.8 CAPN3 DMD DYSF
29 polyglucosan body myopathy 1 with or without immunodeficiency 9.8 CAPN3 DMD FKRP
30 intrinsic cardiomyopathy 9.8 DMD TTN
31 myopathy, congenital 9.8 DMD DYSF
32 myofibrillar myopathy 9.8 DMD TCAP TTN
33 muscular dystrophy, becker type 9.8 DMD DYSF SGCA
34 rigid spine muscular dystrophy 1 9.8 DMD DYSF TTN
35 left ventricular noncompaction 9.8 DMD TCAP TTN
36 muscular dystrophy, congenital, lmna-related 9.8 DMD FKRP TTN
37 atrial standstill 1 9.8 DMD FKRP TTN
38 walker-warburg syndrome 9.8 DMD FKRP SGCA
39 congenital fiber-type disproportion 9.7 DMD DYSF
40 familial isolated dilated cardiomyopathy 9.7 DMD SGCD TCAP TTN
41 autosomal recessive limb-girdle muscular dystrophy type 2j 9.7 CAPN3 FKRP SGCB TTN
42 arrhythmogenic right ventricular cardiomyopathy 9.7 DMD SGCA TTN
43 isolated hyperckemia 9.7 CAPN3 DMD FKRP TCAP
44 autosomal recessive limb-girdle muscular dystrophy type 2g 9.7 CAPN3 DYSF SGCB SGCG TCAP
45 autosomal recessive limb-girdle muscular dystrophy type 2h 9.7 CAPN3 FKRP SGCB SGCG TRIM32
46 miyoshi muscular dystrophy 9.6 CAPN3 DMD DYSF TTN
47 myositis 9.6 CAPN3 DMD DYSF TTN
48 muscular dystrophy, limb-girdle, autosomal recessive 8 9.6 CAPN3 DYSF FKRP TCAP TRIM32 TTN
49 muscular dystrophy-dystroglycanopathy , type c, 5 9.6 CAPN3 DYSF FKRP TCAP TRIM32 TTN
50 autosomal recessive limb-girdle muscular dystrophy type 2d 9.4 CAPN3 DYSF FKRP SGCA SGCB 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

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scapular winging 59 32 Frequent (79-30%) HP:0003691
2 facial palsy 59 Frequent (79-30%)
3 elevated serum creatine phosphokinase 32 HP:0003236
4 proximal upper limb amyotrophy 59 Frequent (79-30%)
5 proximal lower limb amyotrophy 59 Frequent (79-30%)
6 difficulty walking 32 HP:0002355
7 muscular dystrophy 32 HP:0003560
8 generalized limb muscle atrophy 59 Frequent (79-30%)
9 shuffling gait 59 Frequent (79-30%)
10 proximal amyotrophy 32 HP:0007126
11 gowers sign 32 HP:0003391
12 calf muscle hypertrophy 32 HP:0008981
13 ventricular hypertrophy 32 HP:0001714

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

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

# Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy, Type 2f 29 SGCD

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

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

41
Skeletal Muscle, Brain, Eye

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

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

# Title Authors Year
1
Alpha7beta1 integrin does not alleviate disease in a mouse model of limb girdle muscular dystrophy type 2F. ( 17255329 )
2007
2
A homozygous nonsense mutation in delta-sarcoglycan exon 3 in a case of LGMD2F. ( 10838250 )
2000
3
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:

75
# 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 457)
# Gene Variation Type Significance SNP ID Assembly Location
1 SGCD SGCD, 1-BP DEL, 656C deletion Pathogenic
2 SGCD NM_000337.5(SGCD): c.493C> T (p.Arg165Ter) single nucleotide variant Pathogenic rs121909295 GRCh37 Chromosome 5, 156022052: 156022052
3 SGCD NM_000337.5(SGCD): c.493C> T (p.Arg165Ter) single nucleotide variant Pathogenic rs121909295 GRCh38 Chromosome 5, 156595042: 156595042
4 SGCD NM_000337.5(SGCD): c.89G> A (p.Trp30Ter) single nucleotide variant Pathogenic rs121909296 GRCh37 Chromosome 5, 155771584: 155771584
5 SGCD NM_000337.5(SGCD): c.89G> A (p.Trp30Ter) single nucleotide variant Pathogenic rs121909296 GRCh38 Chromosome 5, 156344574: 156344574
6 SGCD NM_000337.5(SGCD): c.784G> A (p.Glu262Lys) single nucleotide variant Pathogenic rs121909297 GRCh37 Chromosome 5, 156186312: 156186312
7 SGCD NM_000337.5(SGCD): c.784G> A (p.Glu262Lys) single nucleotide variant Pathogenic rs121909297 GRCh38 Chromosome 5, 156759301: 156759301
8 SGCD NM_000337.5(SGCD): c.451T> G (p.Ser151Ala) single nucleotide variant Uncertain significance rs121909298 GRCh37 Chromosome 5, 156022010: 156022010
9 SGCD NM_000337.5(SGCD): c.451T> G (p.Ser151Ala) single nucleotide variant Uncertain significance rs121909298 GRCh38 Chromosome 5, 156595000: 156595000
10 SGCD NM_000337.5(SGCD): c.391G> C (p.Ala131Pro) single nucleotide variant Pathogenic rs267607045 GRCh37 Chromosome 5, 156021950: 156021950
11 SGCD NM_000337.5(SGCD): c.391G> C (p.Ala131Pro) single nucleotide variant Pathogenic rs267607045 GRCh38 Chromosome 5, 156594940: 156594940
12 SGCD NM_000337.5(SGCD): c.105G> C (p.Leu35=) single nucleotide variant Benign/Likely benign rs193922392 GRCh37 Chromosome 5, 155771600: 155771600
13 SGCD NM_000337.5(SGCD): c.105G> C (p.Leu35=) single nucleotide variant Benign/Likely benign rs193922392 GRCh38 Chromosome 5, 156344590: 156344590
14 SGCD NM_000337.5(SGCD): c.294+8T> C single nucleotide variant Benign/Likely benign rs11748588 GRCh37 Chromosome 5, 155935720: 155935720
15 SGCD NM_000337.5(SGCD): c.294+8T> C single nucleotide variant Benign/Likely benign rs11748588 GRCh38 Chromosome 5, 156508710: 156508710
16 SGCD NM_000337.5(SGCD): c.731C> T (p.Pro244Leu) single nucleotide variant Uncertain significance rs375159661 GRCh37 Chromosome 5, 156186259: 156186259
17 SGCD NM_000337.5(SGCD): c.731C> T (p.Pro244Leu) single nucleotide variant Uncertain significance rs375159661 GRCh38 Chromosome 5, 156759248: 156759248
18 SGCD NM_000337.5(SGCD): c.848A> G (p.Gln283Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs397516338 GRCh37 Chromosome 5, 156186376: 156186376
19 SGCD NM_000337.5(SGCD): c.848A> G (p.Gln283Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs397516338 GRCh38 Chromosome 5, 156759365: 156759365
20 SGCD NM_000337.5(SGCD): c.-94C> G single nucleotide variant Benign rs13170573 GRCh37 Chromosome 5, 155754192: 155754192
21 SGCD NM_000337.5(SGCD): c.-179A> G single nucleotide variant Benign/Likely benign rs77808502 GRCh37 Chromosome 5, 155754107: 155754107
22 SGCD NM_000337.5(SGCD): c.-179A> G single nucleotide variant Benign/Likely benign rs77808502 GRCh38 Chromosome 5, 156327097: 156327097
23 SGCD NM_000337.5(SGCD): c.-303A> T single nucleotide variant Benign/Likely benign rs7725121 GRCh37 Chromosome 5, 155753983: 155753983
24 SGCD NM_000337.5(SGCD): c.-303A> T single nucleotide variant Benign/Likely benign rs7725121 GRCh38 Chromosome 5, 156326973: 156326973
25 SGCD NM_000337.5(SGCD): c.-94C> G single nucleotide variant Benign rs13170573 GRCh38 Chromosome 5, 156327182: 156327182
26 SGCD NM_000337.5(SGCD): c.123C> G (p.Leu41=) single nucleotide variant Conflicting interpretations of pathogenicity rs200670993 GRCh37 Chromosome 5, 155771618: 155771618
27 SGCD NM_000337.5(SGCD): c.123C> G (p.Leu41=) single nucleotide variant Conflicting interpretations of pathogenicity rs200670993 GRCh38 Chromosome 5, 156344608: 156344608
28 SGCD NM_000337.5(SGCD): c.213G> A (p.Arg71=) single nucleotide variant Conflicting interpretations of pathogenicity rs74846539 GRCh37 Chromosome 5, 155935631: 155935631
29 SGCD NM_000337.5(SGCD): c.213G> A (p.Arg71=) single nucleotide variant Conflicting interpretations of pathogenicity rs74846539 GRCh38 Chromosome 5, 156508621: 156508621
30 SGCD NM_000337.5(SGCD): c.290G> A (p.Arg97Gln) single nucleotide variant Benign/Likely benign rs45559835 GRCh37 Chromosome 5, 155935708: 155935708
31 SGCD NM_000337.5(SGCD): c.290G> A (p.Arg97Gln) single nucleotide variant Benign/Likely benign rs45559835 GRCh38 Chromosome 5, 156508698: 156508698
32 SGCD NM_000337.5(SGCD): c.393C> T (p.Ala131=) single nucleotide variant Likely benign rs397517922 GRCh37 Chromosome 5, 156021952: 156021952
33 SGCD NM_000337.5(SGCD): c.393C> T (p.Ala131=) single nucleotide variant Likely benign rs397517922 GRCh38 Chromosome 5, 156594942: 156594942
34 SGCD NM_000337.5(SGCD): c.507G> A (p.Ala169=) single nucleotide variant Benign/Likely benign rs10071079 GRCh37 Chromosome 5, 156074478: 156074478
35 SGCD NM_000337.5(SGCD): c.507G> A (p.Ala169=) single nucleotide variant Benign/Likely benign rs10071079 GRCh38 Chromosome 5, 156647468: 156647468
36 SGCD NM_000337.5(SGCD): c.69C> T (p.Tyr23=) single nucleotide variant Conflicting interpretations of pathogenicity rs397517923 GRCh37 Chromosome 5, 155771564: 155771564
37 SGCD NM_000337.5(SGCD): c.69C> T (p.Tyr23=) single nucleotide variant Conflicting interpretations of pathogenicity rs397517923 GRCh38 Chromosome 5, 156344554: 156344554
38 SGCD NM_172244.2(SGCD): c.712_714delAAG (p.Lys238del) deletion Benign/Likely benign rs397517924 GRCh37 Chromosome 5, 156184728: 156184730
39 SGCD NM_172244.2(SGCD): c.712_714delAAG (p.Lys238del) deletion Benign/Likely benign rs397517924 GRCh38 Chromosome 5, 156757717: 156757719
40 SGCD NM_000337.5(SGCD): c.699+18C> G single nucleotide variant Conflicting interpretations of pathogenicity rs180898690 GRCh37 Chromosome 5, 156184733: 156184733
41 SGCD NM_000337.5(SGCD): c.699+18C> G single nucleotide variant Conflicting interpretations of pathogenicity rs180898690 GRCh38 Chromosome 5, 156757722: 156757722
42 SGCD NM_000337.5(SGCD): c.84T> C (p.Tyr28=) single nucleotide variant Benign rs1801193 GRCh37 Chromosome 5, 155771579: 155771579
43 SGCD NM_000337.5(SGCD): c.84T> C (p.Tyr28=) single nucleotide variant Benign rs1801193 GRCh38 Chromosome 5, 156344569: 156344569
44 SGCD NM_000337.5(SGCD): c.144G> C (p.Val48=) single nucleotide variant Benign/Likely benign rs372152495 GRCh38 Chromosome 5, 156344629: 156344629
45 SGCD NM_000337.5(SGCD): c.144G> C (p.Val48=) single nucleotide variant Benign/Likely benign rs372152495 GRCh37 Chromosome 5, 155771639: 155771639
46 SGCD NM_000337.5(SGCD): c.226G> T (p.Gly76Cys) single nucleotide variant Likely benign rs376659221 GRCh37 Chromosome 5, 155935644: 155935644
47 SGCD NM_000337.5(SGCD): c.226G> T (p.Gly76Cys) single nucleotide variant Likely benign rs376659221 GRCh38 Chromosome 5, 156508634: 156508634
48 SGCD NM_000337.5(SGCD): c.-378G> T single nucleotide variant Uncertain significance rs531296131 GRCh38 Chromosome 5, 156326898: 156326898
49 SGCD NM_000337.5(SGCD): c.-378G> T single nucleotide variant Uncertain significance rs531296131 GRCh37 Chromosome 5, 155753908: 155753908
50 SGCD NM_000337.5(SGCD): c.-44G> T single nucleotide variant Uncertain significance rs727503420 GRCh37 Chromosome 5, 155754242: 155754242

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
11.34 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 9.35 DMD FKRP 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....