MCID: ATS207
MIFTS: 29

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j

Categories: Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory 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 32 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 autosomal dominant distal myopathy and tibial muscular dystrophy. An important gene associated with Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j is TTN (Titin), and among its related pathways/superpathways are Cardiac conduction and Allograft rejection. Affiliated tissues include heart, and related phenotypes are cardiovascular system and homeostasis/metabolism

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 25 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z
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 Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24

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

(show top 50) (show all 104)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant distal myopathy 30.3 TTN MYOT
2 tibial muscular dystrophy 28.2 TTN TCAP SGCG OBSCN MYOT FKRP
3 miyoshi muscular dystrophy 27.4 TTN TCAP SGCG SGCD SGCB SGCA
4 limb-girdle muscular dystrophy 27.0 TTN TCAP SGCG SGCD SGCB SGCA
5 myopathy 27.0 TTN TCAP SGCG SGCD SGCB SGCA
6 muscular dystrophy 26.1 TTN TCAP SGCG SGCD SGCB SGCA
7 muscular dystrophy, limb-girdle, autosomal recessive 10 11.7
8 paresthesia 10.3 FKRP CAPN3
9 myopathy, spheroid body 10.2 TCAP MYOT
10 hyaline body myopathy 10.2 TTN MYOT
11 miyoshi muscular dystrophy 3 10.2 DYSF CAPN3
12 autosomal recessive limb-girdle muscular dystrophy type 2w 10.2 SGCB MYOT
13 muscular dystrophy-dystroglycanopathy , type c, 9 10.2 SGCB MYOT
14 myopathy, myofibrillar, 1 10.2 TTN MYOT CAPN3
15 myopathy, myofibrillar, 4 10.2 TTN TCAP MYOT
16 foot drop 10.2 TTN MYOT DYSF
17 mitochondrial dna depletion syndrome 12b 10.1 TTN OBSCN
18 polyglucosan body myopathy 1 with or without immunodeficiency 10.1 FKRP CAPN3
19 muscular dystrophy, limb-girdle, type 1h 10.1 MYOT CAV3
20 batten-turner congenital myopathy 10.1 TTN MYOT DYSF
21 congenital muscular dystrophy without intellectual disability 10.1 POMT1 FKRP
22 congenital muscular dystrophy with intellectual disability 10.1 POMT1 FKRP
23 congenital muscular dystrophy with cerebellar involvement 10.1 POMT1 FKRP
24 autosomal recessive limb-girdle muscular dystrophy type 2q 10.1 TCAP SGCA MYOT
25 congenital fiber-type disproportion 10.1 TTN MYOT DYSF
26 dysferlinopathy 10.1 SGCA DYSF CAPN3
27 congenital muscular dystrophy-dystroglycanopathy type a1 10.1 POMT1 FKRP
28 muscular dystrophy, limb-girdle, autosomal dominant 3 10.1 MYOT CAV3
29 congenital structural myopathy 10.1 TTN MYOT
30 myositis 10.1 TTN DYSF CAPN3
31 muscular dystrophy-dystroglycanopathy , type b, 6 10.1 POMT1 FKRP
32 cardiomyopathy, dilated, 1d 10.1 POMT1 FKRP
33 ablepharon-macrostomia syndrome 10.1 POMT1 FKRP
34 rippling muscle disease 2 10.1 DYSF CAV3
35 progressive muscular atrophy 10.1 CAV3 CAPN3
36 epidermolysis bullosa simplex with muscular dystrophy 10.1 TTN FKRP
37 cobblestone lissencephaly 10.0 POMT1 FKRP
38 muscular dystrophy-dystroglycanopathy , type b, 5 10.0 POMT1 FKRP
39 creatine phosphokinase, elevated serum 10.0 TCAP CAV3 CAPN3
40 muscular dystrophy-dystroglycanopathy , type c, 2 10.0 POMT1 FKRP CAPN3
41 autosomal recessive limb-girdle muscular dystrophy type 2x 10.0 MYOT DYSF CAV3
42 emery-dreifuss muscular dystrophy 2, autosomal dominant 10.0 TTN FKRP DYSF CAPN3
43 glycogen storage disease ii 10.0 FKRP CAV3 CAPN3
44 centronuclear myopathy 10.0 TTN DYSF CAV3
45 x-linked recessive disease 10.0 SGCG SGCA DYSF
46 limb-girdle muscular dystrophy type 1c 10.0 FKRP DYSF CAV3
47 atrial standstill 1 10.0 TTN MYOT FKRP
48 congenital muscular dystrophy-dystroglycanopathy type a 10.0 SGCA POMT1 FKRP
49 muscular dystrophy-dystroglycanopathy , type a, 4 9.9 SGCA POMT1 FKRP
50 muscular dystrophy-dystroglycanopathy , type c, 3 9.9 SGCG POMT1 FKRP

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 cardiovascular system MP:0005385 9.85 CAPN3 CAV3 FKRP POMT1 SGCA SGCB
2 homeostasis/metabolism MP:0005376 9.65 CAPN3 CAV3 DYSF FKRP OBSCN SGCA
3 muscle MP:0005369 9.4 CAPN3 CAV3 DYSF FKRP OBSCN POMT1

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

Search Clinical Trials , 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

MalaCards organs/tissues related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j:

40
Heart

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

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

(show all 12)
# Title Authors PMID Year
1
Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy. 61
27796757 2017
2
Identification of a Novel Mutation in the Titin Gene in a Chinese Family with Limb-Girdle Muscular Dystrophy 2J. 61
26392295 2016
3
CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy. 61
25877298 2015
4
Biophysical characterization of naturally occurring titin M10 mutations. 61
25739468 2015
5
Genetic basis of limb-girdle muscular dystrophies: the 2014 update. 61
24843229 2014
6
Atypical phenotypes in titinopathies explained by second titin mutations. 61
24395473 2014
7
Interactions with M-band titin and calpain 3 link myospryn (CMYA5) to tibial and limb-girdle muscular dystrophies. 61
20634290 2010
8
Interactions with titin and myomesin target obscurin and obscurin-like 1 to the M-band: implications for hereditary myopathies. 61
18477606 2008
9
Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J. 61
15728284 2005
10
[Limb girdle muscular dystrophies]. 61
15316618 2004
11
Molecular bases of autosomal recessive limb-girdle muscular dystrophies. 61
14959561 2003
12
The role of titin in muscular disorders. 61
14572168 2003

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 cytoplasm GO:0005737 10.23 TTN TCAP SGCG SGCD SGCB SGCA
2 plasma membrane GO:0005886 10.1 TTN SGCG SGCD SGCB SGCA OBSCN
3 Z disc GO:0030018 9.63 TTN TCAP OBSCN MYOT CAV3 CAPN3
4 T-tubule GO:0030315 9.61 DYSF CAV3 CAPN3
5 dystrophin-associated glycoprotein complex GO:0016010 9.56 SGCD SGCB SGCA CAV3
6 M band GO:0031430 9.54 TTN OBSCN CMYA5
7 I band GO:0031674 9.48 TTN TCAP
8 dystroglycan complex GO:0016011 9.4 SGCB SGCA
9 sarcolemma GO:0042383 9.28 SGCG SGCD SGCB SGCA OBSCN MYOT
10 sarcoglycan complex GO:0016012 9.26 SGCG SGCD SGCB SGCA

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 muscle filament sliding GO:0030049 9.59 TTN TCAP
2 plasma membrane organization GO:0007009 9.58 DYSF CAV3
3 cardiac muscle tissue development GO:0048738 9.58 SGCG SGCD
4 muscle cell cellular homeostasis GO:0046716 9.57 CAV3 CAPN3
5 protein O-linked mannosylation GO:0035269 9.56 POMT1 FKRP
6 heart contraction GO:0060047 9.55 SGCG SGCD
7 plasma membrane repair GO:0001778 9.54 DYSF CAV3
8 cardiac muscle tissue morphogenesis GO:0055008 9.52 TTN TCAP
9 cardiac myofibril assembly GO:0055003 9.51 TTN TCAP
10 cardiac muscle hypertrophy GO:0003300 9.49 TTN TCAP
11 cardiac muscle cell development GO:0055013 9.48 SGCB CAV3
12 T-tubule organization GO:0033292 9.46 DYSF CAV3
13 sarcomere organization GO:0045214 9.46 TTN TCAP OBSCN CAPN3
14 cardiac muscle fiber development GO:0048739 9.43 TTN TCAP
15 detection of muscle stretch GO:0035995 9.43 TTN TCAP CAV3
16 skeletal muscle thin filament assembly GO:0030240 9.4 TTN TCAP
17 sarcomerogenesis GO:0048769 9.37 TTN TCAP
18 muscle contraction GO:0006936 9.35 TTN SGCA MYOT DYSF CAV3
19 skeletal muscle myosin thick filament assembly GO:0030241 9.32 TTN TCAP
20 muscle organ development GO:0007517 9.1 SGCG SGCD SGCB SGCA CAV3 CAPN3

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 9.13 TCAP OBSCN CAPN3
2 structural constituent of muscle GO:0008307 9.02 TTN TCAP OBSCN MYOT CAPN3

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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