MCID: MSC063
MIFTS: 36

Muscular Dystrophy, Limb-Girdle, Type 2j

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases, Metabolic 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 57 12 53 13 73
Lgmd2j 57 12 53 59 75
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j 12 53 59 15
Limb-Girdle Muscular Dystrophy, Type 2j 29 6
Dystrophy, Muscular, Limb-Girdle, Type 2j 40
Limb-Girdle Muscular Dystrophy Type 2j 53
Limb-Girdle Muscular Dystrophy 2j 75

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive limb-girdle muscular dystrophy type 2j
Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood;

OMIM:

57
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:

32
muscular dystrophy, limb-girdle, type 2j:
Inheritance autosomal recessive inheritance
Onset and clinical course childhood onset


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 608807
Disease Ontology 12 DOID:0110283
ICD10 33 G71.0
Orphanet 59 ORPHA140922
UMLS via Orphanet 74 C1837342
ICD10 via Orphanet 34 G71.0
MedGen 42 C1837342
MeSH 44 D049288
UMLS 73 C1837342

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

UniProtKB/Swiss-Prot : 75 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 distal muscular dystrophy and limb-girdle muscular dystrophy. An important gene associated with Muscular Dystrophy, Limb-Girdle, Type 2j is TTN (Titin). Related phenotypes are distal muscle weakness and elevated serum creatine phosphokinase

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 36)
# Related Disease Score Top Affiliating Genes
1 distal muscular dystrophy 29.2 CAPN3 MYOT TTN
2 limb-girdle muscular dystrophy 29.1 CAPN3 FKRP MYOT TTN
3 muscular dystrophy 29.0 CAPN3 FKRP MYOT TTN
4 myopathy 27.5 CAPN3 FKRP LDB3 MYOT TTN
5 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.3 LDB3 TTN
6 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.3 LDB3 TTN
7 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.3 LDB3 TTN
8 isolated hyperckemia 10.1 CAPN3 FKRP
9 muscular dystrophy, congenital, 1b 10.1 FKRP LDB3
10 familial isolated dilated cardiomyopathy 10.1 LDB3 TTN
11 polyglucosan body myopathy 1 with or without immunodeficiency 10.1 CAPN3 FKRP
12 myopathy, myofibrillar, 4 10.0 LDB3 MYOT
13 muscular dystrophy, limb-girdle, type 2d 10.0 CAPN3 FKRP
14 muscular dystrophy, congenital, lmna-related 10.0 FKRP TTN
15 myopathy, myofibrillar, 1 10.0 LDB3 MYOT
16 autosomal dominant limb-girdle muscular dystrophy type 1c 9.9 FKRP MYOT
17 myopathy, myofibrillar, 2 9.9 LDB3 MYOT
18 autosomal recessive limb-girdle muscular dystrophy 9.9 CAPN3 FKRP
19 myofibrillar myopathy 9.9 LDB3 MYOT
20 muscular dystrophy, limb-girdle, type 1e 9.9 FKRP MYOT
21 myositis 9.8 CAPN3 TTN
22 left ventricular noncompaction 9.8 LDB3 TTN
23 neuromuscular disease 9.8 MYOT TTN
24 muscular dystrophy, limb-girdle, type 2h 9.7 CAPN3 FKRP TTN
25 muscular dystrophy, limb-girdle, type 2f 9.7 CAPN3 FKRP TTN
26 muscular dystrophy-dystroglycanopathy , type c, 5 9.7 CAPN3 FKRP TTN
27 myopathy, myofibrillar, 3 9.7 LDB3 MYOT TTN
28 myopathy, spheroid body 9.6 LDB3 MYOT TTN
29 arrhythmogenic right ventricular cardiomyopathy 9.6 LDB3 TTN
30 atrial standstill 1 9.5 FKRP MYOT TTN
31 autosomal recessive limb-girdle muscular dystrophy type 2h 9.5 CAPN3 FKRP MYOT
32 muscular dystrophy, limb-girdle, type 2g 9.4 CAPN3 FKRP MYOT
33 muscular dystrophy, limb-girdle, type 1a 9.4 CAPN3 FKRP MYOT
34 muscle tissue disease 9.4 CAPN3 FKRP MYOT
35 muscular dystrophy, limb-girdle, type 2b 9.0 CAPN3 FKRP MYOT TTN
36 dilated cardiomyopathy 8.7 FKRP LDB3 OBSCN 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:

57
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:

32
# Description HPO Frequency HPO Source Accession
1 distal muscle weakness 32 HP:0002460
2 elevated serum creatine phosphokinase 32 HP:0003236
3 emg 32 HP:0003458
4 muscular dystrophy 32 HP:0003560
5 proximal muscle weakness 32 HP:0003701

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.35 CAPN3 FKRP LDB3 OBSCN TTN
2 normal MP:0002873 8.92 CAPN3 FKRP MYOT 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 29 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

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

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

6
(show top 50) (show all 8385)
# 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_133378.4(TTN) indel Pathogenic rs281864927 GRCh38 Chromosome 2, 178527198: 178527208
3 TTN NM_001256850.1(TTN): c.102966delA (p.Lys34322Asnfs) deletion Pathogenic rs281864930 GRCh37 Chromosome 2, 179391826: 179391826
4 TTN NM_001256850.1(TTN): c.102966delA (p.Lys34322Asnfs) deletion Pathogenic rs281864930 GRCh38 Chromosome 2, 178527099: 178527099
5 TTN NM_001256850.1(TTN): c.54282delG (p.Glu18094Aspfs) deletion Pathogenic/Likely pathogenic rs397517643 GRCh37 Chromosome 2, 179457641: 179457641
6 TTN NM_001256850.1(TTN): c.54282delG (p.Glu18094Aspfs) deletion Pathogenic/Likely pathogenic rs397517643 GRCh38 Chromosome 2, 178592914: 178592914
7 TTN NM_001256850.1(TTN): c.56953C> T (p.Arg18985Ter) single nucleotide variant Pathogenic/Likely pathogenic rs72646846 GRCh37 Chromosome 2, 179454576: 179454576
8 TTN NM_001256850.1(TTN): c.56953C> T (p.Arg18985Ter) single nucleotide variant Pathogenic/Likely pathogenic rs72646846 GRCh38 Chromosome 2, 178589849: 178589849
9 TTN NM_001267550.2(TTN): c.86821+2T> A single nucleotide variant Pathogenic/Likely pathogenic rs397517735 GRCh37 Chromosome 2, 179424036: 179424036
10 TTN NM_001267550.2(TTN): c.86821+2T> A single nucleotide variant Pathogenic/Likely pathogenic rs397517735 GRCh38 Chromosome 2, 178559309: 178559309
11 TTN NM_001256850.1(TTN): c.90211T> C (p.Cys30071Arg) single nucleotide variant Pathogenic rs869320740 GRCh37 Chromosome 2, 179410829: 179410829
12 TTN NM_001256850.1(TTN): c.90211T> C (p.Cys30071Arg) single nucleotide variant Pathogenic rs869320740 GRCh38 Chromosome 2, 178546102: 178546102
13 TTN NM_133432.3(TTN): c.30547A> G (p.Thr10183Ala) single nucleotide variant Uncertain significance rs587782985 GRCh37 Chromosome 2, 179462442: 179462442
14 TTN NM_133432.3(TTN): c.30547A> G (p.Thr10183Ala) single nucleotide variant Uncertain significance rs587782985 GRCh38 Chromosome 2, 178597715: 178597715
15 TTN NM_001267550.2(TTN): c.50858-3C> T single nucleotide variant Conflicting interpretations of pathogenicity rs587782987 GRCh37 Chromosome 2, 179476001: 179476001
16 TTN NM_001267550.2(TTN): c.50858-3C> T single nucleotide variant Conflicting interpretations of pathogenicity rs587782987 GRCh38 Chromosome 2, 178611274: 178611274
17 TTN NM_001267550.2(TTN): c.57847+5_57847+8delGTAA deletion Uncertain significance rs587782988 GRCh37 Chromosome 2, 179460226: 179460229
18 TTN NM_001267550.2(TTN): c.57847+5_57847+8delGTAA deletion Uncertain significance rs587782988 GRCh38 Chromosome 2, 178595499: 178595502
19 TTN NM_133378.4(TTN): c.97070A> C (p.Glu32357Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs201218828 GRCh37 Chromosome 2, 179396568: 179396568
20 TTN NM_133378.4(TTN): c.97070A> C (p.Glu32357Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs201218828 GRCh38 Chromosome 2, 178531841: 178531841
21 TTN NM_001267550.2(TTN): c.104261C> T (p.Ala34754Val) single nucleotide variant Conflicting interpretations of pathogenicity rs727505020 GRCh37 Chromosome 2, 179397081: 179397081
22 TTN NM_001267550.2(TTN): c.104261C> T (p.Ala34754Val) single nucleotide variant Conflicting interpretations of pathogenicity rs727505020 GRCh38 Chromosome 2, 178532354: 178532354
23 TTN NM_001267550.2(TTN): c.104000T> C (p.Ile34667Thr) single nucleotide variant Uncertain significance rs727504476 GRCh37 Chromosome 2, 179397342: 179397342
24 TTN NM_001267550.2(TTN): c.104000T> C (p.Ile34667Thr) single nucleotide variant Uncertain significance rs727504476 GRCh38 Chromosome 2, 178532615: 178532615
25 TTN NM_001256850.1(TTN): c.97348C> T (p.Arg32450Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs140319117 GRCh37 Chromosome 2, 179399071: 179399071
26 TTN NM_001256850.1(TTN): c.97348C> T (p.Arg32450Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs140319117 GRCh38 Chromosome 2, 178534344: 178534344
27 TTN NM_001256850.1(TTN): c.96634A> G (p.Lys32212Glu) single nucleotide variant Uncertain significance rs727505163 GRCh37 Chromosome 2, 179399785: 179399785
28 TTN NM_001256850.1(TTN): c.96634A> G (p.Lys32212Glu) single nucleotide variant Uncertain significance rs727505163 GRCh38 Chromosome 2, 178535058: 178535058
29 TTN NM_001256850.1(TTN): c.95477T> G (p.Val31826Gly) single nucleotide variant Uncertain significance rs200166942 GRCh37 Chromosome 2, 179401074: 179401074
30 TTN NM_001256850.1(TTN): c.95477T> G (p.Val31826Gly) single nucleotide variant Uncertain significance rs200166942 GRCh38 Chromosome 2, 178536347: 178536347
31 TTN NM_001267550.2(TTN): c.100257T> C (p.Asp33419=) single nucleotide variant Likely benign rs727505046 GRCh37 Chromosome 2, 179401217: 179401217
32 TTN NM_001267550.2(TTN): c.100257T> C (p.Asp33419=) single nucleotide variant Likely benign rs727505046 GRCh38 Chromosome 2, 178536490: 178536490
33 TTN NM_001256850.1(TTN): c.94887C> T (p.Val31629=) single nucleotide variant Benign/Likely benign rs564536939 GRCh37 Chromosome 2, 179402124: 179402124
34 TTN NM_001256850.1(TTN): c.94887C> T (p.Val31629=) single nucleotide variant Benign/Likely benign rs564536939 GRCh38 Chromosome 2, 178537397: 178537397
35 TTN NM_001267550.2(TTN): c.98867T> C (p.Met32956Thr) single nucleotide variant Uncertain significance rs727504962 GRCh37 Chromosome 2, 179403795: 179403795
36 TTN NM_001267550.2(TTN): c.98867T> C (p.Met32956Thr) single nucleotide variant Uncertain significance rs727504962 GRCh38 Chromosome 2, 178539068: 178539068
37 TTN NM_001267550.2(TTN): c.98161G> A (p.Val32721Ile) single nucleotide variant Uncertain significance rs533651182 GRCh37 Chromosome 2, 179404631: 179404631
38 TTN NM_001267550.2(TTN): c.98161G> A (p.Val32721Ile) single nucleotide variant Uncertain significance rs533651182 GRCh38 Chromosome 2, 178539904: 178539904
39 TTN NM_001256850.1(TTN): c.92719C> T (p.Arg30907Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs377599569 GRCh37 Chromosome 2, 179406162: 179406162
40 TTN NM_001256850.1(TTN): c.92719C> T (p.Arg30907Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs377599569 GRCh38 Chromosome 2, 178541435: 178541435
41 TTN NM_001256850.1(TTN): c.92541T> C (p.Ser30847=) single nucleotide variant Benign/Likely benign rs571147766 GRCh37 Chromosome 2, 179407019: 179407019
42 TTN NM_001256850.1(TTN): c.92541T> C (p.Ser30847=) single nucleotide variant Benign/Likely benign rs571147766 GRCh38 Chromosome 2, 178542292: 178542292
43 TTN NM_001267550.2(TTN): c.95968G> A (p.Val31990Met) single nucleotide variant Uncertain significance rs727503541 GRCh37 Chromosome 2, 179408988: 179408988
44 TTN NM_001267550.2(TTN): c.95968G> A (p.Val31990Met) single nucleotide variant Uncertain significance rs727503541 GRCh38 Chromosome 2, 178544261: 178544261
45 TTN NM_133379.4(TTN): c.*265+198852C> T single nucleotide variant Conflicting interpretations of pathogenicity rs373871146 GRCh37 Chromosome 2, 179411195: 179411195
46 TTN NM_133379.4(TTN): c.*265+198852C> T single nucleotide variant Conflicting interpretations of pathogenicity rs373871146 GRCh38 Chromosome 2, 178546468: 178546468
47 TTN NM_001267550.2(TTN): c.94664G> A (p.Arg31555His) single nucleotide variant Uncertain significance rs727503545 GRCh37 Chromosome 2, 179411491: 179411491
48 TTN NM_001267550.2(TTN): c.94664G> A (p.Arg31555His) single nucleotide variant Uncertain significance rs727503545 GRCh38 Chromosome 2, 178546764: 178546764
49 TTN NM_001267550.2(TTN): c.93803A> C (p.Lys31268Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs200766837 GRCh37 Chromosome 2, 179412550: 179412550
50 TTN NM_001267550.2(TTN): c.93803A> C (p.Lys31268Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs200766837 GRCh38 Chromosome 2, 178547823: 178547823

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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