MCID: ATS297
MIFTS: 35

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f

Categories: Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare 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 54 30 6
Limb-Girdle Muscular Dystrophy Due to Delta-Sarcoglycan Deficiency 12
Limb-Girdle Muscular Dystrophy Type 2f 74
Lgmd2f 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0110280
ICD10 34 G71.0
UMLS 74 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, autosomal recessive 6 and autosomal recessive limb-girdle muscular dystrophy, 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 facial palsy and scapular winging

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

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

(show all 27)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, limb-girdle, autosomal recessive 6 30.8 SGCG SGCD SGCB SGCA DYSF CAPN3
2 autosomal recessive limb-girdle muscular dystrophy 29.0 SGCG SGCD SGCA DYSF CAPN3
3 limb-girdle muscular dystrophy 28.3 SGCG SGCD SGCB SGCA MYOT DYSF
4 muscular dystrophy 28.3 SGCG SGCD SGCB SGCA MYOT DYSF
5 cardiomyopathy, dilated, 3b 10.0 SGCA SGCD
6 autosomal recessive limb-girdle muscular dystrophy type 2l 10.0 SGCB DYSF
7 muscular dystrophy, limb-girdle, autosomal dominant 1 9.9 MYOT SGCB
8 muscular dystrophy, becker type 9.8 DYSF SGCA
9 muscular dystrophy, limb-girdle, autosomal recessive 8 9.8 DYSF CAPN3
10 dysferlinopathy 9.7 CAPN3 DYSF
11 muscular dystrophy-dystroglycanopathy , type c, 5 9.7 CAPN3 DYSF
12 bethlem myopathy 1 9.6 CAPN3 DYSF
13 dilated cardiomyopathy 9.6 SGCG SGCD SGCB SGCA
14 autosomal recessive limb-girdle muscular dystrophy type 2j 9.5 SGCB MYOT CAPN3
15 myositis 9.5 CAPN3 DYSF
16 muscular dystrophy, limb-girdle, autosomal recessive 7 9.5 MYOT DYSF CAPN3
17 miyoshi muscular dystrophy 9.5 MYOT DYSF CAPN3
18 myopathy 9.4 CAPN3 DYSF MYOT
19 autosomal recessive limb-girdle muscular dystrophy type 2h 9.3 SGCG SGCB MYOT CAPN3
20 autosomal recessive limb-girdle muscular dystrophy type 2b 9.1 SGCG SGCB SGCA DYSF CAPN3
21 autosomal recessive limb-girdle muscular dystrophy type 2g 9.0 SGCG SGCB MYOT DYSF CAPN3
22 muscular dystrophy, limb-girdle, autosomal recessive 2 8.9 SGCB SGCA MYOT DYSF CAPN3
23 autosomal recessive limb-girdle muscular dystrophy type 2d 8.9 SGCG SGCD SGCB SGCA DYSF CAPN3
24 autosomal recessive limb-girdle muscular dystrophy type 2c 8.9 SGCG SGCD SGCB SGCA DYSF CAPN3
25 muscle tissue disease 8.7 SGCG SGCD SGCA MYOT DYSF CAPN3
26 autosomal recessive limb-girdle muscular dystrophy type 2a 8.7 SGCG SGCB SGCA MYOT DYSF CAPN3
27 muscular disease 8.5 SGCG SGCD SGCB SGCA MYOT DYSF

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

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

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 facial palsy 33 frequent (33%) HP:0010628
2 scapular winging 33 frequent (33%) HP:0003691
3 proximal upper limb amyotrophy 33 frequent (33%) HP:0008948
4 proximal lower limb amyotrophy 33 frequent (33%) HP:0008956
5 generalized limb muscle atrophy 33 frequent (33%) HP:0009055
6 shuffling gait 33 frequent (33%) HP:0002362

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:

47
# 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 30

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
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 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

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 9.91 CAPN3 DYSF MYOT SGCA SGCB SGCD
2 cytoskeleton GO:0005856 9.72 MYOT SGCA SGCB SGCD SGCG
3 sarcoglycan complex GO:0016012 9.46 SGCA SGCB SGCD SGCG
4 Z disc GO:0030018 9.43 CAPN3 MYOT
5 dystrophin-associated glycoprotein complex GO:0016010 9.43 SGCA SGCB SGCD
6 T-tubule GO:0030315 9.4 CAPN3 DYSF
7 dystroglycan complex GO:0016011 9.26 SGCA SGCB SGCD SGCG
8 sarcolemma GO:0042383 9.1 DYSF MYOT 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 skeletal muscle tissue regeneration GO:0043403 9.32 DYSF SGCA
2 heart contraction GO:0060047 9.26 SGCD SGCG
3 muscle fiber development GO:0048747 9.16 DYSF SGCB
4 muscle contraction GO:0006936 9.13 DYSF MYOT SGCA
5 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 9.13 CAPN3 DYSF SGCA
2 structural constituent of muscle GO:0008307 8.62 CAPN3 MYOT

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

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
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
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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