LGMD2J
MCID: MSC179
MIFTS: 26

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 (LGMD2J)

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

Aliases & Classifications for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10

MalaCards integrated aliases for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10:

Name: Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 57
Lgmd2j 57 53 59 75
Muscular Dystrophy, Limb-Girdle, Type 2j 57 53 13
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j 53 59
Limb-Girdle Muscular Dystrophy, Type 2j 29 6
Muscular Dystrophy, Limb-Girdle, Type 2j; Lgmd2j 57
Dystrophy, Muscular, Limb-Girdle, Type 2j 40
Limb-Girdle Muscular Dystrophy Type 2j 53
Limb-Girdle Muscular Dystrophy 2j 75
Lgmdr10 57

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, autosomal recessive 10:
Onset and clinical course childhood onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 608807
Orphanet 59 ORPHA140922
UMLS via Orphanet 74 C1837342
ICD10 via Orphanet 34 G71.0
MedGen 42 C1837342
MeSH 44 D049288

Summaries for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10

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, Autosomal Recessive 10, also known as lgmd2j, is related to autosomal recessive limb-girdle muscular dystrophy type 2j and muscular dystrophy. An important gene associated with Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 is TTN (Titin). Related phenotypes are elevated serum creatine phosphokinase and proximal muscle weakness

Description from OMIM: 608807

Related Diseases for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10

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 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 autosomal recessive limb-girdle muscular dystrophy type 2j 11.7
2 muscular dystrophy 10.6
3 limb-girdle muscular dystrophy 10.6
4 miyoshi muscular dystrophy 10.1
5 myopathy 10.1

Graphical network of the top 20 diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10:



Diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10

Symptoms & Phenotypes for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10

Symptoms via clinical synopsis from OMIM:

57
Muscle Soft Tissue:
proximal muscle weakness
emg shows myopathic changes
muscle biopsy shows dystrophic changes
distal muscle weakness, mild
severe disability within 20 years of onset
more
Cardiovascular Heart:
no cardiomyopathy

Laboratory Abnormalities:
normal or increased serum creatine kinase


Clinical features from OMIM:

608807

Human phenotypes related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10:

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

Drugs & Therapeutics for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10

Genetic Tests for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10

Genetic tests related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10:

# Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy, Type 2j 29 TTN

Anatomical Context for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10

Publications for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10

Articles related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10:

# 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, Autosomal Recessive 10

ClinVar genetic disease variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10:

6 (show top 50) (show all 10599)
# 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.835C> T (p.Arg279Trp) single nucleotide variant Uncertain significance rs138060032 GRCh37 Chromosome 2, 179664293: 179664293
4 TTN NM_001256850.1(TTN): c.835C> T (p.Arg279Trp) single nucleotide variant Uncertain significance rs138060032 GRCh38 Chromosome 2, 178799566: 178799566
5 TTN NM_001256850.1(TTN): c.102966delA (p.Lys34322Asnfs) deletion Pathogenic rs281864930 GRCh37 Chromosome 2, 179391826: 179391826
6 TTN NM_001256850.1(TTN): c.102966delA (p.Lys34322Asnfs) deletion Pathogenic rs281864930 GRCh38 Chromosome 2, 178527099: 178527099
7 TTN NM_001267550.2(TTN): c.54208A> C (p.Arg18070=) single nucleotide variant Benign rs138240658 GRCh37 Chromosome 2, 179469608: 179469608
8 TTN NM_001256850.1(TTN): c.102830G> A (p.Cys34277Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs193212275 GRCh37 Chromosome 2, 179391962: 179391962
9 TTN NM_001256850.1(TTN): c.102830G> A (p.Cys34277Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs193212275 GRCh38 Chromosome 2, 178527235: 178527235
10 TTN NM_133378.4(TTN): c.100062T> C (p.Gly33354=) single nucleotide variant Benign/Likely benign rs147293964 GRCh37 Chromosome 2, 179391949: 179391949
11 TTN NM_133378.4(TTN): c.100062T> C (p.Gly33354=) single nucleotide variant Benign/Likely benign rs147293964 GRCh38 Chromosome 2, 178527222: 178527222
12 TTN TTN: c.1003G> A (p.Val335Met) single nucleotide variant Benign/Likely benign rs72647846 GRCh37 Chromosome 2, 179659891: 179659891
13 TTN TTN: c.1003G> A (p.Val335Met) single nucleotide variant Benign/Likely benign rs72647846 GRCh38 Chromosome 2, 178795164: 178795164
14 TTN NM_133378.4(TTN): c.10088G> A (p.Arg3363His) single nucleotide variant Conflicting interpretations of pathogenicity rs148169214 GRCh37 Chromosome 2, 179628930: 179628930
15 TTN NM_133378.4(TTN): c.10088G> A (p.Arg3363His) single nucleotide variant Conflicting interpretations of pathogenicity rs148169214 GRCh38 Chromosome 2, 178764203: 178764203
16 TTN TTN: c.10100G> A (p.Arg3367Gln) single nucleotide variant Benign rs34819099 GRCh37 Chromosome 2, 179628918: 179628918
17 TTN TTN: c.10100G> A (p.Arg3367Gln) single nucleotide variant Benign rs34819099 GRCh38 Chromosome 2, 178764191: 178764191
18 TTN NM_133378.4(TTN): c.10114+5G> A single nucleotide variant Benign/Likely benign rs115985443 GRCh37 Chromosome 2, 179628899: 179628899
19 TTN NM_133378.4(TTN): c.10114+5G> A single nucleotide variant Benign/Likely benign rs115985443 GRCh38 Chromosome 2, 178764172: 178764172
20 TTN NM_001256850.1(TTN): c.10188A> G (p.Glu3396=) single nucleotide variant Conflicting interpretations of pathogenicity rs183336802 GRCh37 Chromosome 2, 179623826: 179623826
21 TTN NM_001256850.1(TTN): c.10188A> G (p.Glu3396=) single nucleotide variant Conflicting interpretations of pathogenicity rs183336802 GRCh38 Chromosome 2, 178759099: 178759099
22 TTN NM_133378.4(TTN): c.10242C> T (p.Tyr3414=) single nucleotide variant Benign/Likely benign rs45447891 GRCh37 Chromosome 2, 179623772: 179623772
23 TTN NM_133378.4(TTN): c.10242C> T (p.Tyr3414=) single nucleotide variant Benign/Likely benign rs45447891 GRCh38 Chromosome 2, 178759045: 178759045
24 TTN NM_133378.4(TTN): c.10457G> A (p.Arg3486Gln) single nucleotide variant Uncertain significance rs202017278 GRCh37 Chromosome 2, 179602991: 179602991
25 TTN NM_133378.4(TTN): c.10457G> A (p.Arg3486Gln) single nucleotide variant Uncertain significance rs202017278 GRCh38 Chromosome 2, 178738264: 178738264
26 TTN NM_001256850.1(TTN): c.13281C> A (p.Asp4427Glu) single nucleotide variant Uncertain significance rs55906845 GRCh37 Chromosome 2, 179602948: 179602948
27 TTN NM_001256850.1(TTN): c.13281C> A (p.Asp4427Glu) single nucleotide variant Uncertain significance rs55906845 GRCh38 Chromosome 2, 178738221: 178738221
28 TTN NM_133378.4(TTN): c.1079G> C (p.Arg360Thr) single nucleotide variant Benign/Likely benign rs56128843 GRCh37 Chromosome 2, 179659815: 179659815
29 TTN NM_133378.4(TTN): c.1079G> C (p.Arg360Thr) single nucleotide variant Benign/Likely benign rs56128843 GRCh38 Chromosome 2, 178795088: 178795088
30 TTN NM_001267550.2(TTN): c.14533G> A (p.Asp4845Asn) single nucleotide variant Uncertain significance rs373378672 GRCh37 Chromosome 2, 179600640: 179600640
31 TTN NM_001267550.2(TTN): c.14533G> A (p.Asp4845Asn) single nucleotide variant Uncertain significance rs373378672 GRCh38 Chromosome 2, 178735913: 178735913
32 TTN NM_001256850.1(TTN): c.13584C> T (p.Asp4528=) single nucleotide variant Likely benign rs184307461 GRCh37 Chromosome 2, 179600638: 179600638
33 TTN NM_001256850.1(TTN): c.13584C> T (p.Asp4528=) single nucleotide variant Likely benign rs184307461 GRCh38 Chromosome 2, 178735911: 178735911
34 TTN NM_133378.4(TTN): c.10966G> A (p.Ala3656Thr) single nucleotide variant Benign/Likely benign rs72648923 GRCh37 Chromosome 2, 179600475: 179600475
35 TTN NM_133378.4(TTN): c.10966G> A (p.Ala3656Thr) single nucleotide variant Benign/Likely benign rs72648923 GRCh38 Chromosome 2, 178735748: 178735748
36 TTN NM_133378.4(TTN): c.11033G> A (p.Ser3678Asn) single nucleotide variant Benign/Likely benign rs184740744 GRCh37 Chromosome 2, 179600408: 179600408
37 TTN NM_133378.4(TTN): c.11033G> A (p.Ser3678Asn) single nucleotide variant Benign/Likely benign rs184740744 GRCh38 Chromosome 2, 178735681: 178735681
38 TTN NM_001256850.1(TTN): c.13833C> A (p.Leu4611=) single nucleotide variant Benign/Likely benign rs373875040 GRCh37 Chromosome 2, 179600389: 179600389
39 TTN NM_001256850.1(TTN): c.13833C> A (p.Leu4611=) single nucleotide variant Benign/Likely benign rs373875040 GRCh38 Chromosome 2, 178735662: 178735662
40 TTN NM_133378.4(TTN): c.11138C> G (p.Thr3713Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs72648925 GRCh37 Chromosome 2, 179600303: 179600303
41 TTN NM_133378.4(TTN): c.11138C> G (p.Thr3713Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs72648925 GRCh38 Chromosome 2, 178735576: 178735576
42 TTN NM_133378.4(TTN): c.11252C> G (p.Pro3751Arg) single nucleotide variant Benign/Likely benign rs72648927 GRCh37 Chromosome 2, 179599667: 179599667
43 TTN NM_133378.4(TTN): c.11252C> G (p.Pro3751Arg) single nucleotide variant Benign/Likely benign rs72648927 GRCh38 Chromosome 2, 178734940: 178734940
44 TTN NM_001256850.1(TTN): c.14047C> T (p.Arg4683Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs369933152 GRCh37 Chromosome 2, 179599653: 179599653
45 TTN NM_001256850.1(TTN): c.14047C> T (p.Arg4683Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs369933152 GRCh38 Chromosome 2, 178734926: 178734926
46 TTN NM_001256850.1(TTN): c.1137A> G (p.Arg379=) single nucleotide variant Conflicting interpretations of pathogenicity rs55972547 GRCh37 Chromosome 2, 179659757: 179659757
47 TTN NM_001256850.1(TTN): c.1137A> G (p.Arg379=) single nucleotide variant Conflicting interpretations of pathogenicity rs55972547 GRCh38 Chromosome 2, 178795030: 178795030
48 TTN NM_133378.4(TTN): c.11446G> A (p.Val3816Ile) single nucleotide variant Benign/Likely benign rs72648929 GRCh37 Chromosome 2, 179599473: 179599473
49 TTN NM_133378.4(TTN): c.11446G> A (p.Val3816Ile) single nucleotide variant Benign/Likely benign rs72648929 GRCh38 Chromosome 2, 178734746: 178734746
50 TTN NM_133378.4(TTN): c.11446G> C (p.Val3816Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs72648929 GRCh37 Chromosome 2, 179599473: 179599473

Expression for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10

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Pathways for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10

GO Terms for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10

Sources for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10

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