MCID: ATS297
MIFTS: 34

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

(show all 25)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, limb-girdle, autosomal recessive 6 31.2 CAPN3 DYSF SGCA SGCB SGCD SGCG
2 autosomal recessive limb-girdle muscular dystrophy 29.3 CAPN3 DYSF SGCA SGCD SGCG
3 muscular dystrophy 29.2 CAPN3 DYSF SGCA SGCB SGCD SGCG
4 limb-girdle muscular dystrophy 29.2 CAPN3 DYSF SGCA SGCB SGCD SGCG
5 autosomal recessive limb-girdle muscular dystrophy type 2l 10.0 DYSF SGCB
6 cardiomyopathy, dilated, 3b 10.0 SGCA SGCD
7 autosomal recessive limb-girdle muscular dystrophy type 2j 9.9 CAPN3 SGCB
8 muscular dystrophy, becker type 9.9 DYSF SGCA
9 muscular dystrophy, limb-girdle, autosomal recessive 8 9.9 CAPN3 DYSF
10 muscular dystrophy, limb-girdle, autosomal recessive 7 9.9 CAPN3 DYSF
11 dysferlinopathy 9.8 CAPN3 DYSF
12 muscular dystrophy-dystroglycanopathy , type c, 5 9.8 CAPN3 DYSF
13 miyoshi muscular dystrophy 9.8 CAPN3 DYSF
14 bethlem myopathy 1 9.8 CAPN3 DYSF
15 autosomal recessive limb-girdle muscular dystrophy type 2h 9.7 CAPN3 SGCB SGCG
16 myositis 9.7 CAPN3 DYSF
17 dilated cardiomyopathy 9.6 SGCA SGCB SGCD SGCG
18 autosomal recessive limb-girdle muscular dystrophy type 2g 9.5 CAPN3 DYSF SGCB SGCG
19 muscular dystrophy, limb-girdle, autosomal recessive 2 9.5 CAPN3 DYSF SGCA SGCB
20 muscle tissue disease 9.4 CAPN3 DYSF SGCA SGCD SGCG
21 autosomal recessive limb-girdle muscular dystrophy type 2a 9.3 CAPN3 DYSF SGCA SGCB SGCG
22 autosomal recessive limb-girdle muscular dystrophy type 2b 9.3 CAPN3 DYSF SGCA SGCB SGCG
23 autosomal recessive limb-girdle muscular dystrophy type 2c 9.2 CAPN3 DYSF SGCA SGCB SGCD SGCG
24 autosomal recessive limb-girdle muscular dystrophy type 2d 9.2 CAPN3 DYSF SGCA SGCB SGCD SGCG
25 muscular disease 9.2 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

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

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 facial palsy 32 frequent (33%) HP:0010628
2 scapular winging 32 frequent (33%) HP:0003691
3 proximal upper limb amyotrophy 32 frequent (33%) HP:0008948
4 proximal lower limb amyotrophy 32 frequent (33%) HP:0008956
5 generalized limb muscle atrophy 32 frequent (33%) HP:0009055
6 shuffling gait 32 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:

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

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 9.32 DYSF SGCA
2 skeletal muscle tissue regeneration GO:0043403 9.26 DYSF SGCA
3 heart contraction GO:0060047 9.16 SGCD SGCG
4 muscle organ development GO:0007517 9.02 CAPN3 SGCA SGCB SGCD SGCG
5 muscle fiber development GO:0048747 8.96 DYSF SGCB

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

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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