MCID: ATS297
MIFTS: 31

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f

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

Aliases & Classifications for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f

MalaCards integrated aliases for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f:

Name: Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f 12 15
Delta-Sarcoglycanopathy 12 53 29 6
Limb-Girdle Muscular Dystrophy Due to Delta-Sarcoglycan Deficiency 12
Limb-Girdle Muscular Dystrophy Type 2f 73
Lgmd2f 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0110280
ICD10 33 G71.0
UMLS 73 C1832525

Summaries for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f

Disease Ontology : 12 An autosomal recessive limb-girdle muscular dystrophy that has material basis in mutation in the sarcoglycan-delta gene (SGCD).

MalaCards based summary : Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f, also known as delta-sarcoglycanopathy, is related to muscular dystrophy, limb-girdle, type 2f and muscular dystrophy, limb-girdle, type 2h, and has symptoms including muscle weakness An important gene associated with Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f is SGCD (Sarcoglycan Delta), and among its related pathways/superpathways are Allograft rejection and Dilated cardiomyopathy (DCM). Related phenotypes are cardiovascular system and muscle

Related Diseases for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f

Diseases in the Limb-Girdle Muscular Dystrophy family:

Muscular Dystrophy, Limb-Girdle, Type 1a Muscular Dystrophy, Limb-Girdle, Type 1b
Muscular Dystrophy, Limb-Girdle, Type 2a Muscular Dystrophy, Limb-Girdle, Type 2b
Muscular Dystrophy, Limb-Girdle, Type 2c Muscular Dystrophy, Limb-Girdle, Type 2h
Muscular Dystrophy, Limb-Girdle, Type 2f Muscular Dystrophy, Limb-Girdle, Type 2g
Muscular Dystrophy, Limb-Girdle, Type 1e Muscular Dystrophy, Limb-Girdle, Type 1c
Muscular Dystrophy, Limb-Girdle, Type 2d Muscular Dystrophy, Limb-Girdle, Type 1f
Muscular Dystrophy, Limb-Girdle, Type 2j Limb-Girdle Muscular Dystrophy, Type 1g
Muscular Dystrophy, Limb-Girdle, Type 2l Muscular Dystrophy, Limb-Girdle, Type 1h
Muscular Dystrophy, Limb-Girdle, Type 2q Muscular Dystrophy, Limb-Girdle, Type 2r
Muscular Dystrophy, Limb-Girdle, Type 2x Muscular Dystrophy, Limb-Girdle, Type 2w
Muscular Dystrophy, Limb-Girdle, Type 2z Autosomal Dominant Limb-Girdle Muscular Dystrophy
Autosomal Recessive Limb-Girdle Muscular Dystrophy Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g

Diseases related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 22)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, limb-girdle, type 2f 28.3 CAPN3 DYSF SGCA SGCB SGCD SGCG
2 muscular dystrophy, limb-girdle, type 2h 9.8 CAPN3 DYSF
3 muscular dystrophy, becker type 9.8 DYSF SGCA
4 muscular dystrophy, limb-girdle, type 2g 9.8 CAPN3 DYSF
5 dysferlinopathy 9.8 CAPN3 DYSF
6 muscular dystrophy-dystroglycanopathy , type c, 5 9.8 CAPN3 DYSF
7 distal muscular dystrophy 9.7 CAPN3 DYSF
8 bethlem myopathy 1 9.5 CAPN3 DYSF
9 autosomal recessive limb-girdle muscular dystrophy type 2h 9.4 CAPN3 DYSF SGCG
10 muscular dystrophy, limb-girdle, type 2a 9.2 CAPN3 SGCB
11 myositis 9.2 CAPN3 DYSF
12 autosomal recessive limb-girdle muscular dystrophy type 2b 8.8 CAPN3 DYSF SGCA SGCG
13 dilated cardiomyopathy 8.6 SGCA SGCB SGCD SGCG
14 autosomal recessive limb-girdle muscular dystrophy type 2e 8.6 CAPN3 SGCB SGCD SGCG
15 muscular dystrophy, limb-girdle, type 2c 8.3 CAPN3 DYSF SGCA SGCD SGCG
16 autosomal recessive limb-girdle muscular dystrophy 8.3 CAPN3 DYSF SGCA SGCD SGCG
17 muscular dystrophy, limb-girdle, type 2b 8.3 CAPN3 DYSF SGCA SGCB
18 muscle tissue disease 8.3 CAPN3 DYSF SGCA SGCD SGCG
19 myopathy 7.7 CAPN3 DYSF SGCA SGCB SGCG
20 muscular dystrophy, limb-girdle, type 2d 7.4 CAPN3 DYSF SGCA SGCB SGCD SGCG
21 limb-girdle muscular dystrophy 7.4 CAPN3 DYSF SGCA SGCB SGCD SGCG
22 muscular dystrophy 7.3 CAPN3 DYSF SGCA SGCB SGCD SGCG

Graphical network of the top 20 diseases related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f:



Diseases related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f

Symptoms & Phenotypes for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f

UMLS symptoms related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f:


muscle weakness

MGI Mouse Phenotypes related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.35 CAPN3 SGCA SGCB SGCD SGCG
2 muscle MP:0005369 9.1 CAPN3 DYSF SGCA SGCB SGCD SGCG

Drugs & Therapeutics for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f

Search Clinical Trials , NIH Clinical Center for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f

Genetic Tests for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f

Genetic tests related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f:

# Genetic test Affiliating Genes
1 Delta-Sarcoglycanopathy 29

Anatomical Context for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f

Publications for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f

Articles related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f:

# 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 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 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f

ClinVar genetic disease variations for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f:

6
(show top 50) (show all 256)
# Gene Variation Type Significance SNP ID Assembly Location
1 SGCD NM_000337.5(SGCD): c.-404G> A single nucleotide variant Likely benign rs192662989 GRCh37 Chromosome 5, 155753882: 155753882
2 SGCD NM_000337.5(SGCD): c.-404G> A single nucleotide variant Likely benign rs192662989 GRCh38 Chromosome 5, 156326872: 156326872
3 SGCD NM_000337.5(SGCD): c.-352T> C single nucleotide variant Uncertain significance rs727503419 GRCh37 Chromosome 5, 155753934: 155753934
4 SGCD NM_000337.5(SGCD): c.-352T> C single nucleotide variant Uncertain significance rs727503419 GRCh38 Chromosome 5, 156326924: 156326924
5 SGCD NM_000337.5(SGCD): c.15G> C (p.Glu5Asp) single nucleotide variant Benign/Likely benign rs549319429 GRCh38 Chromosome 5, 156344500: 156344500
6 SGCD NM_000337.5(SGCD): c.15G> C (p.Glu5Asp) single nucleotide variant Benign/Likely benign rs549319429 GRCh37 Chromosome 5, 155771510: 155771510
7 SGCD NM_000337.5(SGCD): c.716C> T (p.Ala239Val) single nucleotide variant Uncertain significance rs377153196 GRCh38 Chromosome 5, 156759233: 156759233
8 SGCD NM_000337.5(SGCD): c.716C> T (p.Ala239Val) single nucleotide variant Uncertain significance rs377153196 GRCh37 Chromosome 5, 156186244: 156186244
9 SGCD NM_000337.5(SGCD): c.*557A> C single nucleotide variant Uncertain significance rs886060289 GRCh38 Chromosome 5, 156759947: 156759947
10 SGCD NM_000337.5(SGCD): c.*557A> C single nucleotide variant Uncertain significance rs886060289 GRCh37 Chromosome 5, 156186958: 156186958
11 SGCD NM_000337.5(SGCD): c.*753C> T single nucleotide variant Uncertain significance rs543082767 GRCh38 Chromosome 5, 156760143: 156760143
12 SGCD NM_000337.5(SGCD): c.*753C> T single nucleotide variant Uncertain significance rs543082767 GRCh37 Chromosome 5, 156187154: 156187154
13 SGCD NM_000337.5(SGCD): c.*1719G> A single nucleotide variant Uncertain significance rs886060293 GRCh37 Chromosome 5, 156188120: 156188120
14 SGCD NM_000337.5(SGCD): c.*1719G> A single nucleotide variant Uncertain significance rs886060293 GRCh38 Chromosome 5, 156761109: 156761109
15 SGCD NM_000337.5(SGCD): c.*2316G> A single nucleotide variant Uncertain significance rs886060296 GRCh37 Chromosome 5, 156188717: 156188717
16 SGCD NM_000337.5(SGCD): c.*2316G> A single nucleotide variant Uncertain significance rs886060296 GRCh38 Chromosome 5, 156761706: 156761706
17 SGCD NM_000337.5(SGCD): c.*2365T> C single nucleotide variant Likely benign rs72803042 GRCh37 Chromosome 5, 156188766: 156188766
18 SGCD NM_000337.5(SGCD): c.*2365T> C single nucleotide variant Likely benign rs72803042 GRCh38 Chromosome 5, 156761755: 156761755
19 SGCD NM_000337.5(SGCD): c.*2712T> C single nucleotide variant Likely benign rs56293630 GRCh37 Chromosome 5, 156189113: 156189113
20 SGCD NM_000337.5(SGCD): c.*2712T> C single nucleotide variant Likely benign rs56293630 GRCh38 Chromosome 5, 156762102: 156762102
21 SGCD NM_000337.5(SGCD): c.*2813C> A single nucleotide variant Uncertain significance rs886060297 GRCh37 Chromosome 5, 156189214: 156189214
22 SGCD NM_000337.5(SGCD): c.*2813C> A single nucleotide variant Uncertain significance rs886060297 GRCh38 Chromosome 5, 156762203: 156762203
23 SGCD NM_000337.5(SGCD): c.*3292A> G single nucleotide variant Likely benign rs148505840 GRCh37 Chromosome 5, 156189693: 156189693
24 SGCD NM_000337.5(SGCD): c.*3292A> G single nucleotide variant Likely benign rs148505840 GRCh38 Chromosome 5, 156762682: 156762682
25 SGCD NM_000337.5(SGCD): c.*3650G> T single nucleotide variant Likely benign rs72803044 GRCh38 Chromosome 5, 156763040: 156763040
26 SGCD NM_000337.5(SGCD): c.*3650G> T single nucleotide variant Likely benign rs72803044 GRCh37 Chromosome 5, 156190051: 156190051
27 SGCD NM_000337.5(SGCD): c.*3772dupA duplication Benign rs397841758 GRCh38 Chromosome 5, 156763162: 156763162
28 SGCD NM_000337.5(SGCD): c.*3772dupA duplication Benign rs397841758 GRCh37 Chromosome 5, 156190173: 156190173
29 SGCD NM_000337.5(SGCD): c.*3898C> T single nucleotide variant Likely benign rs74717343 GRCh38 Chromosome 5, 156763288: 156763288
30 SGCD NM_000337.5(SGCD): c.*3898C> T single nucleotide variant Likely benign rs74717343 GRCh37 Chromosome 5, 156190299: 156190299
31 SGCD NM_000337.5(SGCD): c.*4166T> C single nucleotide variant Likely benign rs55653598 GRCh38 Chromosome 5, 156763556: 156763556
32 SGCD NM_000337.5(SGCD): c.*4166T> C single nucleotide variant Likely benign rs55653598 GRCh37 Chromosome 5, 156190567: 156190567
33 SGCD NM_000337.5(SGCD): c.*4389G> A single nucleotide variant Uncertain significance rs751053103 GRCh38 Chromosome 5, 156763779: 156763779
34 SGCD NM_000337.5(SGCD): c.*4389G> A single nucleotide variant Uncertain significance rs751053103 GRCh37 Chromosome 5, 156190790: 156190790
35 SGCD NM_000337.5(SGCD): c.*4498G> A single nucleotide variant Likely benign rs73304958 GRCh37 Chromosome 5, 156190899: 156190899
36 SGCD NM_000337.5(SGCD): c.*4498G> A single nucleotide variant Likely benign rs73304958 GRCh38 Chromosome 5, 156763888: 156763888
37 SGCD NM_000337.5(SGCD): c.*5054G> A single nucleotide variant Uncertain significance rs886060307 GRCh37 Chromosome 5, 156191455: 156191455
38 SGCD NM_000337.5(SGCD): c.*5054G> A single nucleotide variant Uncertain significance rs886060307 GRCh38 Chromosome 5, 156764444: 156764444
39 SGCD NM_000337.5(SGCD): c.*5337G> A single nucleotide variant Uncertain significance rs144968734 GRCh37 Chromosome 5, 156191738: 156191738
40 SGCD NM_000337.5(SGCD): c.*5337G> A single nucleotide variant Uncertain significance rs144968734 GRCh38 Chromosome 5, 156764727: 156764727
41 SGCD NM_000337.5(SGCD): c.*5467G> C single nucleotide variant Uncertain significance rs749139391 GRCh37 Chromosome 5, 156191868: 156191868
42 SGCD NM_000337.5(SGCD): c.*5467G> C single nucleotide variant Uncertain significance rs749139391 GRCh38 Chromosome 5, 156764857: 156764857
43 SGCD NM_000337.5(SGCD): c.*5591G> A single nucleotide variant Uncertain significance rs746078886 GRCh38 Chromosome 5, 156764981: 156764981
44 SGCD NM_000337.5(SGCD): c.*5591G> A single nucleotide variant Uncertain significance rs746078886 GRCh37 Chromosome 5, 156191992: 156191992
45 SGCD NM_000337.5(SGCD): c.*5723delA deletion Likely benign rs886060309 GRCh37 Chromosome 5, 156192124: 156192124
46 SGCD NM_000337.5(SGCD): c.*5723delA deletion Likely benign rs886060309 GRCh38 Chromosome 5, 156765113: 156765113
47 SGCD NM_000337.5(SGCD): c.*5877C> A single nucleotide variant Likely benign rs117879283 GRCh37 Chromosome 5, 156192278: 156192278
48 SGCD NM_000337.5(SGCD): c.*5877C> A single nucleotide variant Likely benign rs117879283 GRCh38 Chromosome 5, 156765267: 156765267
49 SGCD NM_000337.5(SGCD): c.*5907T> C single nucleotide variant Uncertain significance rs766068819 GRCh37 Chromosome 5, 156192308: 156192308
50 SGCD NM_000337.5(SGCD): c.*5907T> C single nucleotide variant Uncertain significance rs766068819 GRCh38 Chromosome 5, 156765297: 156765297

Expression for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f

Search GEO for disease gene expression data for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f.

Pathways for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f

GO Terms for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f

Cellular components related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.85 CAPN3 DYSF SGCA SGCB SGCD SGCG
2 cytoskeleton GO:0005856 9.71 SGCA SGCB SGCD SGCG
3 sarcolemma GO:0042383 9.55 DYSF SGCA SGCB SGCD SGCG
4 dystrophin-associated glycoprotein complex GO:0016010 9.43 SGCA SGCB SGCD
5 T-tubule GO:0030315 9.32 CAPN3 DYSF
6 sarcoglycan complex GO:0016012 9.26 SGCA SGCB SGCD SGCG
7 dystroglycan complex GO:0016011 8.92 SGCA SGCB SGCD SGCG

Biological processes related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.37 DYSF SGCA
2 cardiac muscle tissue development GO:0048738 9.32 SGCD SGCG
3 heart contraction GO:0060047 9.26 SGCD SGCG
4 membrane organization GO:0061024 9.26 SGCA SGCB SGCD SGCG
5 muscle cell development GO:0055001 9.16 SGCD SGCG
6 muscle organ development GO:0007517 9.02 CAPN3 SGCA SGCB SGCD SGCG

Molecular functions related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 8.8 CAPN3 DYSF SGCA

Sources for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f

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