MCID: ATS207
MIFTS: 25

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:



External Ids:

Disease Ontology 12 DOID:0110283
ICD10 33 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). Related phenotypes are muscle and normal

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

(show all 36)
# Related Disease Score Top Affiliating Genes
1 miyoshi muscular dystrophy 29.9 CAPN3 MYOT TTN
2 myopathy 29.9 CAPN3 MYOT TTN
3 muscular dystrophy, limb-girdle, autosomal recessive 10 11.8
4 autosomal recessive limb-girdle muscular dystrophy 10.1 CAPN3 FKRP
5 tibial muscular dystrophy 10.1 CAPN3 TTN
6 paresthesia 10.1 CAPN3 FKRP
7 autosomal recessive limb-girdle muscular dystrophy type 2f 10.0 CAPN3 SGCB
8 polyglucosan body myopathy 1 with or without immunodeficiency 10.0 CAPN3 FKRP
9 isolated hyperckemia 10.0 CAPN3 FKRP
10 autosomal recessive limb-girdle muscular dystrophy type 2c 10.0 CAPN3 SGCB
11 autosomal recessive limb-girdle muscular dystrophy type 2l 10.0 FKRP SGCB
12 autosomal recessive limb-girdle muscular dystrophy type 2b 10.0 CAPN3 SGCB
13 myopathy, myofibrillar, 3 10.0 MYOT TTN
14 autosomal dominant limb-girdle muscular dystrophy type 1f 10.0 MYOT SGCB
15 muscular dystrophy, congenital, lmna-related 10.0 FKRP TTN
16 myopathy, spheroid body 9.9 MYOT TTN
17 muscular dystrophy, limb-girdle, autosomal dominant 1 9.9 MYOT SGCB
18 muscular dystrophy, limb-girdle, autosomal recessive 8 9.9 CAPN3 FKRP TTN
19 myofibrillar myopathy 9.9 MYOT TTN
20 muscular dystrophy-dystroglycanopathy , type c, 5 9.9 CAPN3 FKRP TTN
21 autosomal recessive limb-girdle muscular dystrophy type 2d 9.9 CAPN3 FKRP SGCB
22 neuromuscular disease 9.9 MYOT TTN
23 myositis 9.9 CAPN3 TTN
24 autosomal recessive limb-girdle muscular dystrophy type 2g 9.8 CAPN3 MYOT SGCB
25 atrial standstill 1 9.8 FKRP MYOT TTN
26 autosomal dominant limb-girdle muscular dystrophy type 1a 9.8 CAPN3 FKRP MYOT
27 muscle tissue disease 9.8 CAPN3 FKRP MYOT
28 muscular dystrophy, limb-girdle, autosomal recessive 6 9.7 CAPN3 FKRP SGCB TTN
29 muscular dystrophy, limb-girdle, autosomal recessive 7 9.7 CAPN3 FKRP MYOT TTN
30 autosomal recessive limb-girdle muscular dystrophy type 2h 9.6 CAPN3 FKRP MYOT SGCB
31 dilated cardiomyopathy 9.5 FKRP OBSCN SGCB TTN
32 limb-girdle muscular dystrophy 9.5 CAPN3 FKRP MYOT SGCB TTN
33 muscular dystrophy 9.5 CAPN3 FKRP MYOT SGCB TTN
34 autosomal recessive limb-girdle muscular dystrophy type 2a 9.5 CAPN3 FKRP MYOT SGCB TTN
35 muscular dystrophy, limb-girdle, autosomal recessive 2 9.5 CAPN3 FKRP MYOT SGCB TTN
36 muscular disease 9.5 CAPN3 FKRP MYOT SGCB 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.35 CAPN3 FKRP OBSCN SGCB TTN
2 normal MP:0002873 8.92 CAPN3 FKRP MYOT 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

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 sarcomere GO:0030017 9.37 OBSCN TTN
2 myofibril GO:0030016 9.32 CAPN3 OBSCN
3 M band GO:0031430 9.26 OBSCN TTN
4 Z disc GO:0030018 9.26 CAPN3 MYOT OBSCN TTN
5 dystrophin-associated glycoprotein complex GO:0016010 9.16 FKRP SGCB
6 sarcolemma GO:0042383 8.92 FKRP MYOT OBSCN SGCB

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 muscle organ development GO:0007517 9.26 CAPN3 SGCB
3 regulation of catalytic activity GO:0050790 9.16 CAPN3 TTN
4 response to calcium ion GO:0051592 8.96 CAPN3 TTN
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 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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