LGMDR10
MCID: MSC179
MIFTS: 26

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 (LGMDR10)

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 58 76
Muscular Dystrophy, Limb-Girdle, Type 2j 58 54 76 13
Lgmd2j 58 54 60 76
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j 54 60
Limb-Girdle Muscular Dystrophy, Type 2j 30 6
Lgmdr10 58 76
Muscular Dystrophy, Limb-Girdle, Type 2j; Lgmd2j 58
Dystrophy, Muscular, Limb-Girdle, Type 2j 41
Limb-Girdle Muscular Dystrophy Type 2j 54
Limb-Girdle Muscular Dystrophy 2j 76

Characteristics:

Orphanet epidemiological data:

60
autosomal recessive limb-girdle muscular dystrophy type 2j
Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood;

OMIM:

58
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:

33
muscular dystrophy, limb-girdle, autosomal recessive 10:
Onset and clinical course childhood onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

OMIM 58 608807
MeSH 45 D049288
ICD10 via Orphanet 35 G71.0
UMLS via Orphanet 75 C1837342
Orphanet 60 ORPHA140922
MedGen 43 C1837342

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

UniProtKB/Swiss-Prot : 76 Muscular dystrophy, limb-girdle, autosomal recessive 10: 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 muscular dystrophy, limb-girdle, type 2j, 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 emg: myopathic abnormalities 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 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

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

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

33
# Description HPO Frequency HPO Source Accession
1 emg: myopathic abnormalities 33 HP:0003458
2 proximal muscle weakness 33 HP:0003701
3 muscular dystrophy 33 HP:0003560
4 distal muscle weakness 33 HP:0002460
5 elevated serum creatine kinase 33 HP:0003236

Symptoms via clinical synopsis from OMIM:

58
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

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

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, 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 30 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): c.97070A> C (p.Glu32357Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs201218828 GRCh38 Chromosome 2, 178531841: 178531841
2 TTN NM_133378.4(TTN): c.97070A> C (p.Glu32357Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs201218828 GRCh37 Chromosome 2, 179396568: 179396568
3 TTN NM_001267550.2(TTN): c.104261C> T (p.Ala34754Val) single nucleotide variant Conflicting interpretations of pathogenicity rs727505020 GRCh38 Chromosome 2, 178532354: 178532354
4 TTN NM_001267550.2(TTN): c.104261C> T (p.Ala34754Val) single nucleotide variant Conflicting interpretations of pathogenicity rs727505020 GRCh37 Chromosome 2, 179397081: 179397081
5 TTN NM_001267550.2(TTN): c.104000T> C (p.Ile34667Thr) single nucleotide variant Uncertain significance rs727504476 GRCh38 Chromosome 2, 178532615: 178532615
6 TTN NM_001267550.2(TTN): c.104000T> C (p.Ile34667Thr) single nucleotide variant Uncertain significance rs727504476 GRCh37 Chromosome 2, 179397342: 179397342
7 TTN NM_001256850.1(TTN): c.97348C> T (p.Arg32450Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs140319117 GRCh38 Chromosome 2, 178534344: 178534344
8 TTN NM_001256850.1(TTN): c.97348C> T (p.Arg32450Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs140319117 GRCh37 Chromosome 2, 179399071: 179399071
9 TTN NM_001267550.2(TTN): c.102011T> A (p.Leu34004Gln) single nucleotide variant Uncertain significance rs727504897 GRCh38 Chromosome 2, 178534604: 178534604
10 TTN NM_001267550.2(TTN): c.102011T> A (p.Leu34004Gln) single nucleotide variant Uncertain significance rs727504897 GRCh37 Chromosome 2, 179399331: 179399331
11 TTN NM_001256850.1(TTN): c.96634A> G (p.Lys32212Glu) single nucleotide variant Uncertain significance rs727505163 GRCh37 Chromosome 2, 179399785: 179399785
12 TTN NM_001256850.1(TTN): c.96634A> G (p.Lys32212Glu) single nucleotide variant Uncertain significance rs727505163 GRCh38 Chromosome 2, 178535058: 178535058
13 TTN NM_001256850.1(TTN): c.95477T> G (p.Val31826Gly) single nucleotide variant Uncertain significance rs200166942 GRCh37 Chromosome 2, 179401074: 179401074
14 TTN NM_001256850.1(TTN): c.92541T> C (p.Ser30847=) single nucleotide variant Benign/Likely benign rs571147766 GRCh37 Chromosome 2, 179407019: 179407019
15 TTN NM_001256850.1(TTN): c.95477T> G (p.Val31826Gly) single nucleotide variant Uncertain significance rs200166942 GRCh38 Chromosome 2, 178536347: 178536347
16 TTN NM_001267550.2(TTN): c.100257T> C (p.Asp33419=) single nucleotide variant Likely benign rs727505046 GRCh38 Chromosome 2, 178536490: 178536490
17 TTN NM_001267550.2(TTN): c.100257T> C (p.Asp33419=) single nucleotide variant Likely benign rs727505046 GRCh37 Chromosome 2, 179401217: 179401217
18 TTN NM_001256850.1(TTN): c.94887C> T (p.Val31629=) single nucleotide variant Benign/Likely benign rs564536939 GRCh38 Chromosome 2, 178537397: 178537397
19 TTN NM_001256850.1(TTN): c.94887C> T (p.Val31629=) single nucleotide variant Benign/Likely benign rs564536939 GRCh37 Chromosome 2, 179402124: 179402124
20 TTN NM_001256850.1(TTN): c.94071delA (p.Lys31357Asnfs) deletion Pathogenic/Likely pathogenic rs727504535 GRCh38 Chromosome 2, 178538835: 178538835
21 TTN NM_001256850.1(TTN): c.94071delA (p.Lys31357Asnfs) deletion Pathogenic/Likely pathogenic rs727504535 GRCh37 Chromosome 2, 179403562: 179403562
22 TTN NM_001267550.2(TTN): c.98867T> C (p.Met32956Thr) single nucleotide variant Uncertain significance rs727504962 GRCh38 Chromosome 2, 178539068: 178539068
23 TTN NM_001267550.2(TTN): c.98867T> C (p.Met32956Thr) single nucleotide variant Uncertain significance rs727504962 GRCh37 Chromosome 2, 179403795: 179403795
24 TTN NM_001267550.2(TTN): c.98161G> A (p.Val32721Ile) single nucleotide variant Uncertain significance rs533651182 GRCh38 Chromosome 2, 178539904: 178539904
25 TTN NM_001267550.2(TTN): c.98161G> A (p.Val32721Ile) single nucleotide variant Uncertain significance rs533651182 GRCh37 Chromosome 2, 179404631: 179404631
26 TTN NM_001256850.1(TTN): c.92719C> T (p.Arg30907Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs377599569 GRCh38 Chromosome 2, 178541435: 178541435
27 TTN NM_001256850.1(TTN): c.92719C> T (p.Arg30907Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs377599569 GRCh37 Chromosome 2, 179406162: 179406162
28 TTN NM_001256850.1(TTN): c.92541T> C (p.Ser30847=) single nucleotide variant Benign/Likely benign rs571147766 GRCh38 Chromosome 2, 178542292: 178542292
29 TTN NM_001267550.2(TTN): c.95968G> A (p.Val31990Met) single nucleotide variant Uncertain significance rs727503541 GRCh37 Chromosome 2, 179408988: 179408988
30 TTN NM_001267550.2(TTN): c.95968G> A (p.Val31990Met) single nucleotide variant Uncertain significance rs727503541 GRCh38 Chromosome 2, 178544261: 178544261
31 TTN NM_133379.4(TTN): c.*265+198852C> T single nucleotide variant Conflicting interpretations of pathogenicity rs373871146 GRCh37 Chromosome 2, 179411195: 179411195
32 TTN NM_133379.4(TTN): c.*265+198852C> T single nucleotide variant Conflicting interpretations of pathogenicity rs373871146 GRCh38 Chromosome 2, 178546468: 178546468
33 TTN NM_001267550.2(TTN): c.94664G> A (p.Arg31555His) single nucleotide variant Uncertain significance rs727503545 GRCh37 Chromosome 2, 179411491: 179411491
34 TTN NM_001267550.2(TTN): c.94664G> A (p.Arg31555His) single nucleotide variant Uncertain significance rs727503545 GRCh38 Chromosome 2, 178546764: 178546764
35 TTN NM_001267550.2(TTN): c.93803A> C (p.Lys31268Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs200766837 GRCh38 Chromosome 2, 178547823: 178547823
36 TTN NM_001267550.2(TTN): c.93803A> C (p.Lys31268Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs200766837 GRCh37 Chromosome 2, 179412550: 179412550
37 TTN NM_133378.4(TTN): c.85970T> C (p.Ile28657Thr) single nucleotide variant Uncertain significance rs727505175 GRCh37 Chromosome 2, 179412679: 179412679
38 TTN NM_133378.4(TTN): c.85970T> C (p.Ile28657Thr) single nucleotide variant Uncertain significance rs727505175 GRCh38 Chromosome 2, 178547952: 178547952
39 TTN NM_001256850.1(TTN): c.87857T> A (p.Ile29286Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs531432790 GRCh37 Chromosome 2, 179413573: 179413573
40 TTN NM_001256850.1(TTN): c.87857T> A (p.Ile29286Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs531432790 GRCh38 Chromosome 2, 178548846: 178548846
41 TTN NM_133378.4(TTN): c.84980G> A (p.Arg28327Gln) single nucleotide variant Uncertain significance rs200141081 GRCh37 Chromosome 2, 179413669: 179413669
42 TTN NM_133378.4(TTN): c.84980G> A (p.Arg28327Gln) single nucleotide variant Uncertain significance rs200141081 GRCh38 Chromosome 2, 178548942: 178548942
43 TTN NM_001267550.2(TTN): c.92666G> A (p.Gly30889Asp) single nucleotide variant Uncertain significance rs727505280 GRCh37 Chromosome 2, 179413687: 179413687
44 TTN NM_001267550.2(TTN): c.92666G> A (p.Gly30889Asp) single nucleotide variant Uncertain significance rs727505280 GRCh38 Chromosome 2, 178548960: 178548960
45 TTN NM_001267550.2(TTN): c.92294G> C (p.Arg30765Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs373099440 GRCh38 Chromosome 2, 178549332: 178549332
46 TTN NM_001267550.2(TTN): c.92294G> C (p.Arg30765Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs373099440 GRCh37 Chromosome 2, 179414059: 179414059
47 TTN NM_133378.4(TTN): c.83469A> C (p.Glu27823Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs199505541 GRCh37 Chromosome 2, 179416454: 179416454
48 TTN NM_133378.4(TTN): c.83469A> C (p.Glu27823Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs199505541 GRCh38 Chromosome 2, 178551727: 178551727
49 TTN NM_001267550.2(TTN): c.90742G> A (p.Val30248Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs727505024 GRCh38 Chromosome 2, 178552158: 178552158
50 TTN NM_001267550.2(TTN): c.90742G> A (p.Val30248Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs727505024 GRCh37 Chromosome 2, 179416885: 179416885

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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