MCID: ATS207
MIFTS: 26

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j

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

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

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

Name: Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j 12 15
Muscular Dystrophy, Limb-Girdle, Type 2j 12
Lgmd2j 12

Classifications:



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Disease Ontology 12 DOID:0110283
ICD10 34 G71.0

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

Disease Ontology : 12 An autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous mutation in the titin gene (TTN).

MalaCards based summary : Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j, also known as muscular dystrophy, limb-girdle, type 2j, is related to miyoshi muscular dystrophy and myopathy. An important gene associated with Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j is TTN (Titin), and among its related pathways/superpathways are Arrhythmogenic right ventricular cardiomyopathy (ARVC) and Dilated cardiomyopathy (DCM). Related phenotype is muscle.

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

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 2j via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 29)
# Related Disease Score Top Affiliating Genes
1 miyoshi muscular dystrophy 29.5 CAPN3 MYOT TTN
2 myopathy 29.5 CAPN3 MYOT TTN
3 muscular dystrophy, limb-girdle, autosomal recessive 10 11.8
4 autosomal recessive limb-girdle muscular dystrophy 10.0 CAPN3 SGCG
5 tibial muscular dystrophy 10.0 CAPN3 TTN
6 muscular dystrophy, limb-girdle, autosomal recessive 8 10.0 CAPN3 TTN
7 muscular dystrophy-dystroglycanopathy , type c, 5 9.9 CAPN3 TTN
8 myopathy, myofibrillar, 3 9.9 MYOT TTN
9 muscular dystrophy, limb-girdle, autosomal dominant 1 9.8 MYOT SGCB
10 myopathy, spheroid body 9.8 MYOT TTN
11 myositis 9.8 CAPN3 TTN
12 myofibrillar myopathy 9.8 MYOT TTN
13 neuromuscular disease 9.7 MYOT TTN
14 autosomal recessive limb-girdle muscular dystrophy type 2f 9.7 CAPN3 SGCB SGCG
15 autosomal recessive limb-girdle muscular dystrophy type 2d 9.7 CAPN3 SGCB SGCG
16 autosomal recessive limb-girdle muscular dystrophy type 2c 9.7 CAPN3 SGCB SGCG
17 autosomal recessive limb-girdle muscular dystrophy type 2b 9.7 CAPN3 SGCB SGCG
18 atrial standstill 1 9.6 MYOT TTN
19 muscular dystrophy, limb-girdle, autosomal recessive 7 9.5 CAPN3 MYOT TTN
20 dilated cardiomyopathy 9.5 OBSCN SGCB SGCG TTN
21 muscular dystrophy, limb-girdle, autosomal recessive 6 9.5 CAPN3 SGCB SGCG TTN
22 muscle tissue disease 9.5 CAPN3 MYOT SGCG
23 muscular dystrophy, limb-girdle, autosomal recessive 2 9.3 CAPN3 MYOT SGCB TTN
24 autosomal recessive limb-girdle muscular dystrophy type 2g 9.3 CAPN3 MYOT SGCB SGCG
25 autosomal recessive limb-girdle muscular dystrophy type 2h 9.3 CAPN3 MYOT SGCB SGCG
26 limb-girdle muscular dystrophy 9.0 CAPN3 MYOT SGCB SGCG TTN
27 muscular dystrophy 9.0 CAPN3 MYOT SGCB SGCG TTN
28 autosomal recessive limb-girdle muscular dystrophy type 2a 9.0 CAPN3 MYOT SGCB SGCG TTN
29 muscular disease 9.0 CAPN3 MYOT SGCB SGCG TTN

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



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

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

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.02 CAPN3 OBSCN SGCB SGCG TTN

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402

Search NIH Clinical Center for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j

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

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

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

Variations for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j

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

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

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

Pathways related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.54 CAPN3 SGCB SGCG
2
Show member pathways
11.04 SGCB SGCG TTN

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

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

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.91 CAPN3 MYOT OBSCN SGCB SGCG TTN
2 sarcomere GO:0030017 9.4 OBSCN TTN
3 myofibril GO:0030016 9.37 CAPN3 OBSCN
4 M band GO:0031430 9.32 OBSCN TTN
5 sarcoglycan complex GO:0016012 9.26 SGCB SGCG
6 Z disc GO:0030018 9.26 CAPN3 MYOT OBSCN TTN
7 dystroglycan complex GO:0016011 9.16 SGCB SGCG
8 sarcolemma GO:0042383 8.92 MYOT OBSCN SGCB SGCG

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

# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.32 MYOT TTN
2 regulation of catalytic activity GO:0050790 9.26 CAPN3 TTN
3 response to calcium ion GO:0051592 9.16 CAPN3 TTN
4 muscle organ development GO:0007517 9.13 CAPN3 SGCB SGCG
5 sarcomere organization GO:0045214 8.8 CAPN3 OBSCN TTN

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

# Name GO ID Score Top Affiliating Genes
1 titin binding GO:0031432 8.96 CAPN3 OBSCN
2 structural constituent of muscle GO:0008307 8.92 CAPN3 MYOT OBSCN TTN

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

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
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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52 NDF-RT
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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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