MCID: MSC116
MIFTS: 43

Muscular Dystrophy, Limb-Girdle, Type 2f

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

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

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

Name: Muscular Dystrophy, Limb-Girdle, Type 2f 57 13
Lgmd2f 57 53 59 75 55
Limb-Girdle Muscular Dystrophy, Type 2f 29 6
Limb-Girdle Muscular Dystrophy Type 2f 53 73
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
Dystrophy, Muscular, Limb-Girdle, Type 2f 40
Limb-Girdle Muscular Dystrophy 2f 75
Delta-Sarcoglycanopathy 59

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, type 2f:
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
UMLS 73 C1832525

Summaries for Muscular Dystrophy, Limb-Girdle, Type 2f

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, Type 2f, 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, Type 2f is SGCD (Sarcoglycan Delta), and among its related pathways/superpathways are Allograft rejection and Cardiac conduction. Affiliated tissues include skeletal muscle, and related phenotypes are ventricular hypertrophy and difficulty walking

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, 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 Muscular Dystrophy, Limb-Girdle, Type 2f via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive limb-girdle muscular dystrophy type 2f 29.6 CAPN3 DYSF SGCA SGCB SGCD SGCG
2 autosomal recessive limb-girdle muscular dystrophy 25.4 CAPN3 DMD DYSF FKRP SGCA SGCD
3 muscular dystrophy 23.5 CAPN3 DMD DYSF FKRP SGCA SGCB
4 limb-girdle muscular dystrophy 23.5 CAPN3 DMD DYSF FKRP SGCA SGCB
5 muscular dystrophy, limb-girdle, type 1c 10.4 DYSF FKRP
6 autosomal dominant limb-girdle muscular dystrophy type 1c 10.4 DYSF FKRP
7 muscular dystrophy, limb-girdle, type 2l 10.4 DYSF FKRP
8 dysferlinopathy 10.2 CAPN3 DYSF
9 muscular dystrophy, limb-girdle, type 1a 10.0 CAPN3 FKRP TRIM32
10 localized lipodystrophy 10.0 DMD DYSF
11 muscular dystrophy, congenital, lmna-related 9.9 FKRP TTN
12 creatine phosphokinase, elevated serum 9.9 DMD TCAP
13 muscular dystrophy, congenital, 1b 9.9 DMD FKRP
14 cardioneuromyopathy with hyaline masses and nemaline rods 9.8 DMD TTN
15 muscular dystrophy, limb-girdle, type 2j 9.8 CAPN3 FKRP TTN
16 cardiomyopathy, dilated, 3b 9.8 DMD SGCA
17 stormorken syndrome 9.7 DMD DYSF
18 muscular dystrophy-dystroglycanopathy , type b, 6 9.7 DMD FKRP
19 reducing body myopathy 9.7 DMD TTN
20 muscular dystrophy, limb-girdle, type 2a 9.7 CAPN3 SGCB
21 muscular dystrophy-dystroglycanopathy , type a, 4 9.7 DMD FKRP
22 mcleod syndrome 9.6 DMD SGCA
23 muscular dystrophy, congenital merosin-deficient, 1a 9.6 DMD SGCA
24 muscular dystrophy-dystroglycanopathy , type b, 5 9.6 DMD FKRP
25 autosomal recessive limb-girdle muscular dystrophy type 2b 9.5 CAPN3 DYSF SGCA SGCG
26 autosomal recessive limb-girdle muscular dystrophy type 2e 9.5 CAPN3 SGCB SGCD SGCG
27 bethlem myopathy 1 9.4 CAPN3 DMD DYSF
28 polyglucosan body myopathy 1 with or without immunodeficiency 9.4 CAPN3 DMD FKRP
29 muscular dystrophy, becker type 9.4 DMD DYSF SGCA
30 rigid spine muscular dystrophy 1 9.3 DMD DYSF TTN
31 left ventricular noncompaction 9.3 DMD TCAP TTN
32 atrial standstill 1 9.3 DMD FKRP TTN
33 walker-warburg syndrome 9.3 DMD FKRP SGCA
34 autosomal recessive limb-girdle muscular dystrophy type 2h 9.2 CAPN3 DYSF FKRP SGCG TRIM32
35 intrinsic cardiomyopathy 9.2 DMD TTN
36 muscular dystrophy, limb-girdle, type 2g 9.2 CAPN3 DYSF FKRP TCAP TRIM32
37 muscle eye brain disease 9.1 DMD FKRP
38 familial isolated dilated cardiomyopathy 9.1 DMD SGCD TCAP TTN
39 arrhythmogenic right ventricular cardiomyopathy 9.1 DMD SGCA TTN
40 hypertrophic cardiomyopathy 9.0 DMD SGCD TCAP TTN
41 isolated hyperckemia 9.0 CAPN3 DMD FKRP TCAP
42 distal muscular dystrophy 8.8 CAPN3 DMD DYSF TTN
43 myositis 8.8 CAPN3 DMD DYSF TTN
44 muscular dystrophy, limb-girdle, type 2h 8.6 CAPN3 DYSF FKRP TCAP TRIM32 TTN
45 muscular dystrophy-dystroglycanopathy , type c, 5 8.6 CAPN3 DYSF FKRP TCAP TRIM32 TTN
46 muscular dystrophy, limb-girdle, type 2c 8.2 CAPN3 DMD DYSF SGCA SGCD SGCG
47 muscular dystrophy, limb-girdle, type 2d 7.9 CAPN3 DYSF FKRP SGCA SGCB SGCD
48 muscle tissue disease 7.7 CAPN3 DMD DYSF FKRP SGCA SGCD
49 dilated cardiomyopathy 6.9 DMD FKRP SGCA SGCB SGCD SGCG
50 muscular dystrophy, limb-girdle, type 2b 6.3 CAPN3 DMD DYSF FKRP SGCA SGCB

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



Diseases related to Muscular Dystrophy, Limb-Girdle, Type 2f

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

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
ventricular hypertrophy

Laboratory Abnormalities:
increased serum creatine kinase

Muscle Soft Tissue:
muscle weakness
difficulty walking
calf hypertrophy
gowers sign
typical myopathic pattern seen on biopsy
more

Clinical features from OMIM:

601287

Human phenotypes related to Muscular Dystrophy, Limb-Girdle, Type 2f:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 ventricular hypertrophy 32 HP:0001714
2 difficulty walking 32 HP:0002355
3 elevated serum creatine phosphokinase 32 HP:0003236
4 gowers sign 32 HP:0003391
5 muscular dystrophy 32 HP:0003560
6 scapular winging 32 HP:0003691
7 proximal amyotrophy 32 HP:0007126
8 calf muscle hypertrophy 32 HP:0008981

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


muscle weakness

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

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 SGCB SGCD SGCG TCAP TTN CAPN3
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, Type 2f

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

Genetic Tests for Muscular Dystrophy, Limb-Girdle, Type 2f

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

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

Anatomical Context for Muscular Dystrophy, Limb-Girdle, Type 2f

MalaCards organs/tissues related to Muscular Dystrophy, Limb-Girdle, Type 2f:

41
Skeletal Muscle

Publications for Muscular Dystrophy, Limb-Girdle, Type 2f

Articles related to Muscular Dystrophy, Limb-Girdle, 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 Muscular Dystrophy, Limb-Girdle, Type 2f

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy, Limb-Girdle, Type 2f:

75
# Symbol AA change Variation ID SNP ID
1 SGCD p.Glu261Lys VAR_010396 rs121909297

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

6
(show top 50) (show all 77)
# 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.391G> C (p.Ala131Pro) single nucleotide variant Pathogenic rs267607045 GRCh37 Chromosome 5, 156021950: 156021950
9 SGCD NM_000337.5(SGCD): c.391G> C (p.Ala131Pro) single nucleotide variant Pathogenic rs267607045 GRCh38 Chromosome 5, 156594940: 156594940
10 SGCD NM_000337.5(SGCD): c.226G> T (p.Gly76Cys) single nucleotide variant Likely benign rs376659221 GRCh37 Chromosome 5, 155935644: 155935644
11 SGCD NM_000337.5(SGCD): c.226G> T (p.Gly76Cys) single nucleotide variant Likely benign rs376659221 GRCh38 Chromosome 5, 156508634: 156508634
12 SGCD NM_000337.5(SGCD): c.394G> A (p.Val132Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs367819390 GRCh37 Chromosome 5, 156021953: 156021953
13 SGCD NM_000337.5(SGCD): c.394G> A (p.Val132Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs367819390 GRCh38 Chromosome 5, 156594943: 156594943
14 SGCD NM_000337.5(SGCD): c.494G> A (p.Arg165Gln) single nucleotide variant Uncertain significance rs727503423 GRCh37 Chromosome 5, 156022053: 156022053
15 SGCD NM_000337.5(SGCD): c.494G> A (p.Arg165Gln) single nucleotide variant Uncertain significance rs727503423 GRCh38 Chromosome 5, 156595043: 156595043
16 SGCD NM_000337.5(SGCD): c.92G> A (p.Arg31Gln) single nucleotide variant Uncertain significance rs200476861 GRCh37 Chromosome 5, 155771587: 155771587
17 SGCD NM_000337.5(SGCD): c.92G> A (p.Arg31Gln) single nucleotide variant Uncertain significance rs200476861 GRCh38 Chromosome 5, 156344577: 156344577
18 SGCD NM_000337.5(SGCD): c.15G> C (p.Glu5Asp) single nucleotide variant Benign/Likely benign rs549319429 GRCh38 Chromosome 5, 156344500: 156344500
19 SGCD NM_000337.5(SGCD): c.15G> C (p.Glu5Asp) single nucleotide variant Benign/Likely benign rs549319429 GRCh37 Chromosome 5, 155771510: 155771510
20 SGCD NM_000337.5(SGCD): c.160A> G (p.Ile54Val) single nucleotide variant Uncertain significance rs200671745 GRCh37 Chromosome 5, 155771655: 155771655
21 SGCD NM_000337.5(SGCD): c.160A> G (p.Ile54Val) single nucleotide variant Uncertain significance rs200671745 GRCh38 Chromosome 5, 156344645: 156344645
22 SGCD NM_000337.5(SGCD): c.402T> C (p.Ala134=) single nucleotide variant Conflicting interpretations of pathogenicity rs190935424 GRCh38 Chromosome 5, 156594951: 156594951
23 SGCD NM_000337.5(SGCD): c.402T> C (p.Ala134=) single nucleotide variant Conflicting interpretations of pathogenicity rs190935424 GRCh37 Chromosome 5, 156021961: 156021961
24 SGCD NM_000337.5(SGCD): c.756G> A (p.Thr252=) single nucleotide variant Conflicting interpretations of pathogenicity rs756467431 GRCh37 Chromosome 5, 156186284: 156186284
25 SGCD NM_000337.5(SGCD): c.756G> A (p.Thr252=) single nucleotide variant Conflicting interpretations of pathogenicity rs756467431 GRCh38 Chromosome 5, 156759273: 156759273
26 SGCD NM_000337.5(SGCD): c.65dupT (p.Tyr23Ilefs) duplication Pathogenic rs886043031 GRCh37 Chromosome 5, 155771560: 155771560
27 SGCD NM_000337.5(SGCD): c.65dupT (p.Tyr23Ilefs) duplication Pathogenic rs886043031 GRCh38 Chromosome 5, 156344550: 156344550
28 SGCD NM_000337.5(SGCD): c.768G> A (p.Thr256=) single nucleotide variant Conflicting interpretations of pathogenicity rs376141942 GRCh37 Chromosome 5, 156186296: 156186296
29 SGCD NM_000337.5(SGCD): c.768G> A (p.Thr256=) single nucleotide variant Conflicting interpretations of pathogenicity rs376141942 GRCh38 Chromosome 5, 156759285: 156759285
30 SGCD NM_000337.5(SGCD): c.543T> G (p.Pro181=) single nucleotide variant Conflicting interpretations of pathogenicity rs200451694 GRCh37 Chromosome 5, 156074514: 156074514
31 SGCD NM_000337.5(SGCD): c.543T> G (p.Pro181=) single nucleotide variant Conflicting interpretations of pathogenicity rs200451694 GRCh38 Chromosome 5, 156647504: 156647504
32 SGCD NM_000337.5(SGCD): c.443T> A (p.Leu148Ter) single nucleotide variant Pathogenic rs886043460 GRCh37 Chromosome 5, 156022002: 156022002
33 SGCD NM_000337.5(SGCD): c.443T> A (p.Leu148Ter) single nucleotide variant Pathogenic rs886043460 GRCh38 Chromosome 5, 156594992: 156594992
34 SGCD NM_000337.5(SGCD): c.357T> C (p.Thr119=) single nucleotide variant Conflicting interpretations of pathogenicity rs886044132 GRCh37 Chromosome 5, 156016303: 156016303
35 SGCD NM_000337.5(SGCD): c.357T> C (p.Thr119=) single nucleotide variant Conflicting interpretations of pathogenicity rs886044132 GRCh38 Chromosome 5, 156589293: 156589293
36 SGCD NM_000337.5(SGCD): c.510G> A (p.Glu170=) single nucleotide variant Benign/Likely benign rs368838376 GRCh38 Chromosome 5, 156647471: 156647471
37 SGCD NM_000337.5(SGCD): c.510G> A (p.Glu170=) single nucleotide variant Benign/Likely benign rs368838376 GRCh37 Chromosome 5, 156074481: 156074481
38 SGCD NM_000337.5(SGCD): c.74_77dupTGGG (p.Ile27Glyfs) duplication Pathogenic GRCh38 Chromosome 5, 156344559: 156344562
39 SGCD NM_000337.5(SGCD): c.74_77dupTGGG (p.Ile27Glyfs) duplication Pathogenic GRCh37 Chromosome 5, 155771569: 155771572
40 SGCD NM_000337.5(SGCD): c.559C> T (p.Pro187Ser) single nucleotide variant Uncertain significance rs769250018 GRCh38 Chromosome 5, 156647520: 156647520
41 SGCD NM_000337.5(SGCD): c.559C> T (p.Pro187Ser) single nucleotide variant Uncertain significance rs769250018 GRCh37 Chromosome 5, 156074530: 156074530
42 SGCD NM_000337.5(SGCD): c.761C> T (p.Thr254Ile) single nucleotide variant Uncertain significance rs372607729 GRCh37 Chromosome 5, 156186289: 156186289
43 SGCD NM_000337.5(SGCD): c.761C> T (p.Thr254Ile) single nucleotide variant Uncertain significance rs372607729 GRCh38 Chromosome 5, 156759278: 156759278
44 SGCD NM_000337.5(SGCD): c.458A> G (p.Asp153Gly) single nucleotide variant Uncertain significance rs752000538 GRCh37 Chromosome 5, 156022017: 156022017
45 SGCD NM_000337.5(SGCD): c.458A> G (p.Asp153Gly) single nucleotide variant Uncertain significance rs752000538 GRCh38 Chromosome 5, 156595007: 156595007
46 SGCD NM_000337.5(SGCD): c.566A> G (p.Lys189Arg) single nucleotide variant Uncertain significance rs538002169 GRCh37 Chromosome 5, 156074537: 156074537
47 SGCD NM_000337.5(SGCD): c.566A> G (p.Lys189Arg) single nucleotide variant Uncertain significance rs538002169 GRCh38 Chromosome 5, 156647527: 156647527
48 SGCD NM_000337.5(SGCD): c.175G> T (p.Val59Phe) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 155771670: 155771670
49 SGCD NM_000337.5(SGCD): c.175G> T (p.Val59Phe) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 156344660: 156344660
50 SGCD NM_000337.5(SGCD): c.434C> G (p.Ser145Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 156594983: 156594983

Expression for Muscular Dystrophy, Limb-Girdle, Type 2f

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

Pathways for Muscular Dystrophy, Limb-Girdle, Type 2f

Pathways related to Muscular Dystrophy, Limb-Girdle, Type 2f according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.4 DMD SGCA SGCB SGCD SGCG
2
Show member pathways
12.35 DMD DYSF TCAP TTN
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 11.19 DMD TCAP TTN

GO Terms for Muscular Dystrophy, Limb-Girdle, Type 2f

Cellular components related to Muscular Dystrophy, Limb-Girdle, Type 2f 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 9.46 CAPN3 DMD
5 dystroglycan complex GO:0016011 9.46 SGCA SGCB SGCD SGCG
6 T-tubule GO:0030315 9.43 CAPN3 DYSF
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 cytoplasm GO:0005737 10.13 CAPN3 DMD SGCA SGCB SGCD SGCG
11 plasma membrane GO:0005886 10.1 CAPN3 DMD DYSF FKRP SGCA SGCB

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.72 DYSF SGCA TTN
2 response to calcium ion GO:0051592 9.62 CAPN3 TTN
3 cardiac muscle tissue development GO:0048738 9.61 SGCD SGCG
4 skeletal muscle tissue regeneration GO:0043403 9.61 DMD SGCA
5 positive regulation of proteolysis GO:0045862 9.6 CAPN3 TRIM32
6 cardiac myofibril assembly GO:0055003 9.59 TCAP TTN
7 cardiac muscle tissue morphogenesis GO:0055008 9.58 TCAP TTN
8 response to muscle stretch GO:0035994 9.58 DMD TCAP
9 muscle fiber development GO:0048747 9.57 DMD SGCB
10 heart contraction GO:0060047 9.56 SGCD SGCG
11 cardiac muscle fiber development GO:0048739 9.54 TCAP TTN
12 cardiac muscle contraction GO:0060048 9.54 DMD TCAP TTN
13 cardiac muscle hypertrophy GO:0003300 9.52 TCAP TTN
14 response to denervation involved in regulation of muscle adaptation GO:0014894 9.51 DMD SGCA
15 sarcomere organization GO:0045214 9.5 CAPN3 TCAP TTN
16 skeletal muscle thin filament assembly GO:0030240 9.49 TCAP TTN
17 muscle cell development GO:0055001 9.48 SGCD SGCG
18 skeletal muscle myosin thick filament assembly GO:0030241 9.46 TCAP TTN
19 membrane organization GO:0061024 9.46 SGCA SGCB SGCD SGCG
20 detection of muscle stretch GO:0035995 9.43 TCAP TTN
21 muscle filament sliding GO:0030049 9.43 DMD TCAP TTN
22 sarcomerogenesis GO:0048769 9.4 TCAP TTN
23 muscle cell cellular homeostasis GO:0046716 9.13 CAPN3 DMD TRIM32
24 muscle organ development GO:0007517 9.1 CAPN3 DMD SGCA SGCB SGCD SGCG

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

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.56 CAPN3 DYSF SGCA TTN
2 protein self-association GO:0043621 9.32 TRIM32 TTN
3 myosin binding GO:0017022 9.16 DMD TRIM32
4 titin binding GO:0031432 8.96 CAPN3 TCAP
5 structural constituent of muscle GO:0008307 8.92 CAPN3 DMD TCAP TTN

Sources for Muscular Dystrophy, Limb-Girdle, Type 2f

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
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