MCID: MSC063
MIFTS: 36

Muscular Dystrophy, Limb-Girdle, Type 2j

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

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

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

Name: Muscular Dystrophy, Limb-Girdle, Type 2j 53 12 49 13 69
Lgmd2j 53 12 49 55 71
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j 12 49 55 14
Limb-Girdle Muscular Dystrophy, Type 2j 28
Limb-Girdle Muscular Dystrophy Type 2j 49
Limb-Girdle Muscular Dystrophy 2j 71

Characteristics:

Orphanet epidemiological data:

55
autosomal recessive limb-girdle muscular dystrophy type 2j
Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
childhood-onset
heterozygous titin mutation causes the less-severe tardive tibial muscular dystrophy
allelic disorder to a form of dilated cardiomyopathy (cmd1g, )


HPO:

31
muscular dystrophy, limb-girdle, type 2j:
Inheritance autosomal recessive inheritance
Onset and clinical course childhood onset


Classifications:

Orphanet: 55  
Rare neurological diseases


External Ids:

OMIM 53 608807
Disease Ontology 12 DOID:0110283
ICD10 32 G71.0
Orphanet 55 ORPHA140922
UMLS via Orphanet 70 C1837342
ICD10 via Orphanet 33 G71.0
MedGen 39 C1837342
MeSH 41 D049288
UMLS 69 C1837342

Summaries for Muscular Dystrophy, Limb-Girdle, Type 2j

UniProtKB/Swiss-Prot : 71 Limb-girdle muscular dystrophy 2J: An autosomal recessive degenerative myopathy characterized by progressive weakness of the pelvic and shoulder girdle muscles. Severe disability is observed within 20 years of onset.

MalaCards based summary : Muscular Dystrophy, Limb-Girdle, Type 2j, also known as lgmd2j, is related to limb-girdle muscular dystrophy and muscular dystrophy, and has symptoms including elevated serum creatine phosphokinase, muscular dystrophy and distal muscle weakness. An important gene associated with Muscular Dystrophy, Limb-Girdle, Type 2j is TTN (Titin). Related phenotype is muscle.

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

Description from OMIM: 608807

Related Diseases for Muscular Dystrophy, Limb-Girdle, Type 2j

Diseases in the Limb-Girdle Muscular Dystrophy family:

Muscular Dystrophy, Limb-Girdle, Type 1a Muscular Dystrophy, Limb-Girdle, Type 1b
Muscular Dystrophy, Limb-Girdle, Type 2a Muscular Dystrophy, Limb-Girdle, Type 2b
Muscular Dystrophy, Limb-Girdle, Type 2c Muscular Dystrophy, Limb-Girdle, Type 2h
Muscular Dystrophy, Limb-Girdle, Type 2f Muscular Dystrophy, Limb-Girdle, Type 2g
Muscular Dystrophy, Limb-Girdle, Type 1e Muscular Dystrophy, Limb-Girdle, Type 1c
Muscular Dystrophy, Limb-Girdle, Type 2d Muscular Dystrophy, Limb-Girdle, Type 1f
Muscular Dystrophy, Limb-Girdle, Type 2j Limb-Girdle Muscular Dystrophy, Type 1g
Muscular Dystrophy, Limb-Girdle, Type 2l Muscular Dystrophy, Limb-Girdle, Type 1h
Muscular Dystrophy, Limb-Girdle, Type 2q Muscular Dystrophy, Limb-Girdle, Type 2r
Muscular Dystrophy, Limb-Girdle, Type 2x Muscular Dystrophy, Limb-Girdle, Type 2w
Muscular Dystrophy, Limb-Girdle, Type 2z Autosomal Dominant Limb-Girdle Muscular Dystrophy
Autosomal Recessive Limb-Girdle Muscular Dystrophy Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g

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

(show all 33)
# Related Disease Score Top Affiliating Genes
1 limb-girdle muscular dystrophy 29.4 CAPN3 FKRP MYOT TTN
2 muscular dystrophy 29.3 CAPN3 FKRP MYOT TTN
3 myopathy 28.1 CAPN3 FKRP LDB3 MYOT TTN
4 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.2 LDB3 TTN
5 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.2 LDB3 TTN
6 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.1 LDB3 TTN
7 isolated hyperckemia 10.0 CAPN3 FKRP
8 muscular dystrophy, congenital, 1b 10.0 FKRP LDB3
9 muscular dystrophy, limb-girdle, type 2d 10.0 CAPN3 FKRP
10 familial isolated dilated cardiomyopathy 9.9 LDB3 TTN
11 autosomal recessive limb-girdle muscular dystrophy 9.9 CAPN3 FKRP
12 myopathy, myofibrillar, 4 9.8 LDB3 MYOT
13 myositis 9.8 CAPN3 TTN
14 muscular dystrophy, limb-girdle, type 2h 9.8 CAPN3 FKRP TTN
15 muscular dystrophy, limb-girdle, type 2f 9.8 CAPN3 FKRP TTN
16 muscular dystrophy-dystroglycanopathy , type c, 5 9.8 CAPN3 FKRP TTN
17 myopathy, myofibrillar, 1 9.8 LDB3 MYOT
18 autosomal dominant limb-girdle muscular dystrophy type 1c 9.8 FKRP MYOT
19 myopathy, myofibrillar, 2 9.7 LDB3 MYOT
20 arrhythmogenic right ventricular cardiomyopathy 9.7 LDB3 TTN
21 left ventricular noncompaction 9.7 LDB3 OBSCN TTN
22 muscular dystrophy, limb-girdle, type 1e 9.7 FKRP MYOT
23 myopathy, myofibrillar, 3 9.6 LDB3 MYOT TTN
24 myopathy, spheroid body 9.6 LDB3 MYOT TTN
25 myofibrillar myopathy 9.6 LDB3 MYOT TTN
26 distal muscular dystrophy 9.5 CAPN3 MYOT TTN
27 autosomal recessive limb-girdle muscular dystrophy type 2h 9.5 CAPN3 FKRP MYOT
28 muscular dystrophy, limb-girdle, type 2g 9.5 CAPN3 FKRP MYOT
29 muscular dystrophy, limb-girdle, type 1a 9.5 CAPN3 FKRP MYOT
30 muscle tissue disease 9.4 CAPN3 FKRP MYOT
31 dilated cardiomyopathy 9.3 FKRP LDB3 OBSCN TTN
32 muscular dystrophy, limb-girdle, type 2b 9.2 CAPN3 FKRP MYOT TTN
33 muscular dystrophy, limb-girdle, type 2a 9.2 CAPN3 FKRP MYOT TTN

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



Diseases related to Muscular Dystrophy, Limb-Girdle, Type 2j

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

Symptoms via clinical synopsis from OMIM:

53
Cardiovascular Heart:
no cardiomyopathy

Laboratory Abnormalities:
normal or increased serum creatine kinase

Muscle Soft Tissue:
proximal muscle weakness
distal muscle weakness, mild
severe disability within 20 years of onset
loss of ambulation between third and sixth decade
no facial muscle involvement
more

Clinical features from OMIM:

608807

Human phenotypes related to Muscular Dystrophy, Limb-Girdle, Type 2j:

31
# Description HPO Frequency HPO Source Accession
1 elevated serum creatine phosphokinase 31 HP:0003236
2 muscular dystrophy 31 HP:0003560
3 distal muscle weakness 31 HP:0002460
4 proximal muscle weakness 31 HP:0003701
5 emg 31 HP:0003458

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

43
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.02 CAPN3 FKRP LDB3 OBSCN TTN

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

Genetic Tests for Muscular Dystrophy, Limb-Girdle, Type 2j

Genetic tests related to Muscular Dystrophy, Limb-Girdle, Type 2j:

# Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy, Type 2j 28 TTN

Anatomical Context for Muscular Dystrophy, Limb-Girdle, Type 2j

Publications for Muscular Dystrophy, Limb-Girdle, Type 2j

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

# Title Authors Year
1
Identification of a Novel Mutation in the Titin Gene in a Chinese Family with Limb-Girdle Muscular Dystrophy 2J. ( 26392295 )
2015
2
Myopathies caused by homozygous titin mutations: limb-girdle muscular dystrophy 2J and variations of phenotype. ( 20571043 )
2010
3
Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J. ( 15728284 )
2005

Variations for Muscular Dystrophy, Limb-Girdle, Type 2j

ClinVar genetic disease variations for Muscular Dystrophy, Limb-Girdle, Type 2j:

6 (show all 46)
# Gene Variation Type Significance SNP ID Assembly Location
1 TTN NM_133378.4(TTN) indel Pathogenic rs281864927 GRCh37 Chromosome 2, 179391925: 179391935
2 TTN NM_001256850.1(TTN): c.102966delA (p.Lys34322Asnfs) deletion Pathogenic rs281864930 GRCh37 Chromosome 2, 179391826: 179391826
3 TTN NM_001256850.1(TTN): c.56953C> T (p.Arg18985Ter) single nucleotide variant Likely pathogenic rs72646846 GRCh37 Chromosome 2, 179454576: 179454576
4 TTN NM_001256850.1(TTN): c.90211T> C (p.Cys30071Arg) single nucleotide variant Pathogenic rs869320740 GRCh37 Chromosome 2, 179410829: 179410829
5 TTN NM_001267550.2(TTN): c.67495C> T (p.Arg22499Ter) single nucleotide variant Pathogenic/Likely pathogenic rs574660186 GRCh37 Chromosome 2, 179444429: 179444429
6 TTN NM_001267550.2(TTN): c.49336dupT (p.Tyr16446Leufs) duplication Likely pathogenic rs797044683 GRCh37 Chromosome 2, 179478788: 179478788
7 TTN NM_001267550.2(TTN): c.53995G> T (p.Glu17999Ter) single nucleotide variant Likely pathogenic rs794727387 GRCh37 Chromosome 2, 179469909: 179469909
8 TTN NM_001267550.2(TTN): c.60681dupT (p.Lys20228Terfs) duplication Likely pathogenic rs797044692 GRCh37 Chromosome 2, 179455771: 179455771
9 TTN NM_001267550.2(TTN): c.79162G> T (p.Gly26388Ter) single nucleotide variant Likely pathogenic rs763822931 GRCh37 Chromosome 2, 179431697: 179431697
10 TTN NM_001267550.2(TTN): c.82544_82545insTTAG (p.Arg27515Serfs) insertion Likely pathogenic rs797044697 GRCh37 Chromosome 2, 179428314: 179428315
11 TTN NM_001267550.2(TTN): c.88594+1G> T single nucleotide variant Likely pathogenic rs794727467 GRCh37 Chromosome 2, 179419591: 179419591
12 TTN NM_001267550.2(TTN): c.88979_88985delATGGCGG (p.Asp29660Valfs) deletion Likely pathogenic rs794727468 GRCh37 Chromosome 2, 179418853: 179418859
13 TTN NM_001267550.2(TTN): c.99719C> G (p.Ser33240Ter) single nucleotide variant Likely pathogenic rs794727539 GRCh37 Chromosome 2, 179402215: 179402215
14 TTN NM_001267550.2(TTN): c.107163_107167delTACTT (p.Phe35721Leufs) deletion Likely pathogenic rs794727544 GRCh37 Chromosome 2, 179393311: 179393315
15 TTN NM_001256850.1(TTN): c.87394C> T (p.Arg29132Ter) single nucleotide variant Pathogenic/Likely pathogenic rs794729301 GRCh37 Chromosome 2, 179414036: 179414036
16 TTN NM_001256850.1(TTN): c.75927C> G (p.Tyr25309Ter) single nucleotide variant Likely pathogenic rs794729291 GRCh37 Chromosome 2, 179430009: 179430009
17 TTN NM_001256850.1(TTN): c.73255G> T (p.Glu24419Ter) single nucleotide variant Pathogenic/Likely pathogenic rs794729289 GRCh37 Chromosome 2, 179432681: 179432681
18 TTN NM_001256850.1(TTN): c.59757dupC (p.Gly19920Argfs) duplication Pathogenic/Likely pathogenic rs794729330 GRCh37 Chromosome 2, 179449688: 179449688
19 TTN NM_001267550.2(TTN): c.101098_101099insT (p.Asp33700Valfs) insertion Likely pathogenic rs869312122 GRCh37 Chromosome 2, 179400243: 179400244
20 TTN NM_001256850.1(TTN): c.76114C> T (p.Arg25372Ter) single nucleotide variant Pathogenic/Likely pathogenic rs869038795 GRCh38 Chromosome 2, 178565095: 178565095
21 TTN NM_001256850.1(TTN): c.62425+1G> A single nucleotide variant Likely pathogenic rs758279518 GRCh37 Chromosome 2, 179444665: 179444665
22 TTN NM_001267550.2(TTN): c.66160+2T> C single nucleotide variant Likely pathogenic rs753146898 GRCh37 Chromosome 2, 179447021: 179447021
23 TTN NM_001256850.1(TTN): c.77113C> T (p.Gln25705Ter) single nucleotide variant Pathogenic/Likely pathogenic rs886042331 GRCh37 Chromosome 2, 179428823: 179428823
24 TTN NM_001267550.2(TTN): c.51883_51892delAAGCGTGCAG (p.Lys17295Hisfs) deletion Likely pathogenic rs886042414 GRCh37 Chromosome 2, 179474145: 179474154
25 TTN NM_001267550.2(TTN): c.70754delT (p.Val23585Glyfs) deletion Likely pathogenic rs886042441 GRCh37 Chromosome 2, 179440105: 179440105
26 TTN NM_001267550.2(TTN): c.91798_91799insT (p.Glu30600Valfs) insertion Likely pathogenic rs886042502 GRCh37 Chromosome 2, 179414766: 179414767
27 TTN indel Likely pathogenic GRCh37 Chromosome 2, 179433196: 179433213
28 TTN NM_001267550.2(TTN): c.54190+1G> A single nucleotide variant Likely pathogenic rs756339648 GRCh37 Chromosome 2, 179469713: 179469713
29 TTN NM_001267550.2(TTN): c.51459_51462delTGTA (p.Asp17153Glufs) deletion Likely pathogenic rs886043718 GRCh37 Chromosome 2, 179474688: 179474691
30 TTN NM_001267550.2(TTN): c.104399delG (p.Arg34800Lysfs) deletion Likely pathogenic rs747662439 GRCh37 Chromosome 2, 179396943: 179396943
31 TTN NM_001267550.2(TTN): c.99920_99921insTC (p.Ala33308Profs) insertion Likely pathogenic rs886043854 GRCh37 Chromosome 2, 179401915: 179401916
32 TTN NM_001256850.1(TTN): c.100831C> T (p.Arg33611Ter) single nucleotide variant Pathogenic/Likely pathogenic rs886043924 GRCh37 Chromosome 2, 179395588: 179395588
33 TTN NM_001267550.2(TTN): c.47629C> T (p.Gln15877Ter) single nucleotide variant Likely pathogenic rs886044009 GRCh37 Chromosome 2, 179482183: 179482183
34 TTN NM_001267550.2(TTN): c.78197dupA (p.Tyr26066Terfs) duplication Likely pathogenic GRCh37 Chromosome 2, 179432662: 179432662
35 TTN NM_001267550.2(TTN): c.56294delC (p.Thr18765Lysfs) deletion Likely pathogenic rs886044096 GRCh38 Chromosome 2, 178599607: 178599607
36 TTN NM_001267550.2(TTN): c.90561delT (p.Thr30188Leufs) deletion Likely pathogenic rs886044318 GRCh37 Chromosome 2, 179417066: 179417066
37 TTN NM_001267550.2(TTN): c.106137dupT (p.Lys35380Terfs) duplication Likely pathogenic rs886044460 GRCh37 Chromosome 2, 179395205: 179395205
38 TTN NM_001267550.2(TTN): c.90255_90256delAT (p.Cys30086Terfs) deletion Likely pathogenic rs773840992 GRCh37 Chromosome 2, 179417371: 179417372
39 TTN NM_001267550.2(TTN): c.104413C> T (p.Arg34805Ter) single nucleotide variant Likely pathogenic rs750519430 GRCh37 Chromosome 2, 179396929: 179396929
40 TTN NM_133437.4(TTN): c.76741delG (p.Glu25581Asnfs) deletion Likely pathogenic rs760768093 GRCh37 Chromosome 2, 179397982: 179397982
41 TTN NM_001267550.2(TTN): c.102796_102798delAATinsTATA (p.Asn34266Tyrfs) indel Likely pathogenic rs1060500589 GRCh38 Chromosome 2, 178533817: 178533819
42 TTN NM_001267550.2(TTN): c.103374C> A (p.Tyr34458Ter) single nucleotide variant Likely pathogenic rs1060500505 GRCh38 Chromosome 2, 178533241: 178533241
43 TTN NM_001267550.2(TTN): c.102061C> T (p.Gln34021Ter) single nucleotide variant Likely pathogenic rs1060500471 GRCh38 Chromosome 2, 178534554: 178534554
44 TTN NM_001267550.2(TTN): c.68885_68888dupATAC (p.Ile22964Tyrfs) duplication Pathogenic/Likely pathogenic rs757603460 GRCh38 Chromosome 2, 178577447: 178577450
45 TTN NM_001267550.2(TTN): c.89221dupA (p.Ile29741Asnfs) duplication Likely pathogenic GRCh37 Chromosome 2, 179418511: 179418511
46 TTN NM_001267550.2(TTN): c.102523C> T (p.Arg34175Ter) single nucleotide variant Pathogenic rs752697861 GRCh37 Chromosome 2, 179398819: 179398819

Expression for Muscular Dystrophy, Limb-Girdle, Type 2j

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

Pathways for Muscular Dystrophy, Limb-Girdle, Type 2j

GO Terms for Muscular Dystrophy, Limb-Girdle, Type 2j

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

# Name GO ID Score Top Affiliating Genes
1 myofibril GO:0030016 9.26 CAPN3 OBSCN
2 M band GO:0031430 9.16 OBSCN TTN
3 sarcolemma GO:0042383 9.13 FKRP MYOT OBSCN
4 Z disc GO:0030018 9.02 CAPN3 LDB3 MYOT OBSCN TTN

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

# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.26 MYOT TTN
2 regulation of catalytic activity GO:0050790 9.16 CAPN3 TTN
3 response to calcium ion GO:0051592 8.96 CAPN3 TTN
4 sarcomere organization GO:0045214 8.92 CAPN3 LDB3 OBSCN TTN

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

# Name GO ID Score Top Affiliating Genes
1 muscle alpha-actinin binding GO:0051371 9.16 LDB3 TTN
2 titin binding GO:0031432 8.96 CAPN3 OBSCN
3 structural constituent of muscle GO:0008307 8.92 CAPN3 MYOT OBSCN TTN

Sources for Muscular Dystrophy, Limb-Girdle, Type 2j

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16 ExPASy
18 FMA
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