MCID: TBL022
MIFTS: 22

Tibial Muscular Dystrophy, Tardive

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

Aliases & Classifications for Tibial Muscular Dystrophy, Tardive

MalaCards integrated aliases for Tibial Muscular Dystrophy, Tardive:

Name: Tibial Muscular Dystrophy, Tardive 57 13 73
Udd Myopathy 57 59 75
Tmd 57 59 75
Tardive Tibial Muscular Dystrophy 57 75
Tibial Muscular Dystrophy 59 73
Finnish Tibial Muscular Dystrophy 59
Distal Myopathy, Udd Type 59
Distal Titinopathy 59

Characteristics:

Orphanet epidemiological data:

59
tibial muscular dystrophy
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/100000 (Europe),1-5/10000 (Finland); Age of onset: Adult; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
adult onset (after age 35 years)
slow progression without marked disability
incomplete penetrance
cardiomyopathy is not a feature


HPO:

32
tibial muscular dystrophy, tardive:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset slow progression incomplete penetrance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 600334
Orphanet 59 ORPHA609
UMLS via Orphanet 74 C1838244 C1450052
ICD10 via Orphanet 34 G71.0
MESH via Orphanet 45 C536815
MedGen 42 C1838244
UMLS 73 C1450052

Summaries for Tibial Muscular Dystrophy, Tardive

UniProtKB/Swiss-Prot : 75 Tardive tibial muscular dystrophy: Autosomal dominant, late-onset distal myopathy. Muscle weakness and atrophy are usually confined to the anterior compartment of the lower leg, in particular the tibialis anterior muscle. Clinical symptoms usually occur at age 35-45 years or much later.

MalaCards based summary : Tibial Muscular Dystrophy, Tardive, also known as udd myopathy, is related to tibial muscular dystrophy. An important gene associated with Tibial Muscular Dystrophy, Tardive is TTN (Titin). Affiliated tissues include skeletal muscle, and related phenotypes are steppage gait and emg

Description from OMIM: 600334

Related Diseases for Tibial Muscular Dystrophy, Tardive

Diseases related to Tibial Muscular Dystrophy, Tardive via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 tibial muscular dystrophy 11.6

Symptoms & Phenotypes for Tibial Muscular Dystrophy, Tardive

Symptoms via clinical synopsis from OMIM:

57
Muscle Soft Tissue:
weakness of the muscles in the anterior compartment of the lower leg (particularly the tibialis anterior muscle)
atrophy of the muscles in the anterior compartment of the lower leg
'steppage' gait
reduced ankle dorsiflexion
replacement of affected muscle tissue with fatty tissue
more

Clinical features from OMIM:

600334

Human phenotypes related to Tibial Muscular Dystrophy, Tardive:

32
# Description HPO Frequency HPO Source Accession
1 steppage gait 32 HP:0003376
2 emg 32 HP:0003458
3 muscular dystrophy 32 HP:0003560
4 rimmed vacuoles 32 HP:0003805

Drugs & Therapeutics for Tibial Muscular Dystrophy, Tardive

Search Clinical Trials , NIH Clinical Center for Tibial Muscular Dystrophy, Tardive

Genetic Tests for Tibial Muscular Dystrophy, Tardive

Anatomical Context for Tibial Muscular Dystrophy, Tardive

MalaCards organs/tissues related to Tibial Muscular Dystrophy, Tardive:

41
Skeletal Muscle

Publications for Tibial Muscular Dystrophy, Tardive

Articles related to Tibial Muscular Dystrophy, Tardive:

(show all 12)
# Title Authors Year
1
Gene expression profiling in tibial muscular dystrophy reveals unfolded protein response and altered autophagy. ( 24618559 )
2014
2
The first Italian family with tibial muscular dystrophy caused by a novel titin mutation. ( 19911250 )
2010
3
Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD). ( 18948003 )
2008
4
Tibial muscular dystrophy with late adult onset in a Spanish family. ( 16218196 )
2005
5
Muscle magnetic resonance imaging shows distinct diagnostic patterns in Welander and tibial muscular dystrophy. ( 15242415 )
2004
6
Tibial muscular dystrophy in a Belgian family. ( 12891679 )
2003
7
Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. ( 12145747 )
2002
8
The first European family with tibial muscular dystrophy outside the Finnish population. ( 9855539 )
1998
9
Assignment of the tibial muscular dystrophy locus to chromosome 2q31. ( 9497249 )
1998
10
Tibial muscular dystrophy--from clinical description to linkage on chromosome 2q31. ( 9673987 )
1998
11
Linkage analyses in tibial muscular dystrophy. ( 8666419 )
1996
12
Tibial muscular dystrophy. Late adult-onset distal myopathy in 66 Finnish patients. ( 8503797 )
1993

Variations for Tibial Muscular Dystrophy, Tardive

UniProtKB/Swiss-Prot genetic disease variations for Tibial Muscular Dystrophy, Tardive:

75
# Symbol AA change Variation ID SNP ID
1 TTN p.Ile34306Asn VAR_026694 rs281864928
2 TTN p.Leu34315Pro VAR_026695 rs267607156

ClinVar genetic disease variations for Tibial Muscular Dystrophy, Tardive:

6
(show top 50) (show all 1121)
# 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_133378.4(TTN): c.100163T> C (p.Leu33388Pro) single nucleotide variant Pathogenic rs267607156 GRCh37 Chromosome 2, 179391848: 179391848
4 TTN NM_133378.4(TTN): c.100163T> C (p.Leu33388Pro) single nucleotide variant Pathogenic rs267607156 GRCh38 Chromosome 2, 178527121: 178527121
5 TTN NM_133378.4(TTN): c.100136T> A (p.Ile33379Asn) single nucleotide variant Pathogenic rs281864928 GRCh37 Chromosome 2, 179391875: 179391875
6 TTN NM_133378.4(TTN): c.100136T> A (p.Ile33379Asn) single nucleotide variant Pathogenic rs281864928 GRCh38 Chromosome 2, 178527148: 178527148
7 TTN NM_133378.4(TTN): c.100133A> C (p.His33378Pro) single nucleotide variant Pathogenic rs281864931 GRCh37 Chromosome 2, 179391878: 179391878
8 TTN NM_133378.4(TTN): c.100133A> C (p.His33378Pro) single nucleotide variant Pathogenic rs281864931 GRCh38 Chromosome 2, 178527151: 178527151
9 TTN NM_001256850.1(TTN): c.102966delA (p.Lys34322Asnfs) deletion Pathogenic rs281864930 GRCh37 Chromosome 2, 179391826: 179391826
10 TTN NM_001256850.1(TTN): c.102966delA (p.Lys34322Asnfs) deletion Pathogenic rs281864930 GRCh38 Chromosome 2, 178527099: 178527099
11 TTN NM_133378.4(TTN): c.100186C> T (p.Gln33396Ter) single nucleotide variant Pathogenic rs281864929 GRCh37 Chromosome 2, 179391825: 179391825
12 TTN NM_133378.4(TTN): c.100186C> T (p.Gln33396Ter) single nucleotide variant Pathogenic rs281864929 GRCh38 Chromosome 2, 178527098: 178527098
13 TTN NM_133378.4(TTN): c.100188_100193delAGATGG (p.Gln33396_Gly33398delinsHis) deletion Pathogenic rs281864933 GRCh37 Chromosome 2, 179391818: 179391823
14 TTN NM_133378.4(TTN): c.100188_100193delAGATGG (p.Gln33396_Gly33398delinsHis) deletion Pathogenic rs281864933 GRCh38 Chromosome 2, 178527091: 178527096
15 TTN NM_133378.4(TTN): c.99943delT (p.Ser33315Glnfs) deletion Pathogenic rs281864932 GRCh37 Chromosome 2, 179392206: 179392206
16 TTN NM_133378.4(TTN): c.99943delT (p.Ser33315Glnfs) deletion Pathogenic rs281864932 GRCh38 Chromosome 2, 178527479: 178527479
17 TTN NM_001256850.1(TTN): c.56953C> T (p.Arg18985Ter) single nucleotide variant Pathogenic/Likely pathogenic rs72646846 GRCh37 Chromosome 2, 179454576: 179454576
18 TTN NM_001256850.1(TTN): c.56953C> T (p.Arg18985Ter) single nucleotide variant Pathogenic/Likely pathogenic rs72646846 GRCh38 Chromosome 2, 178589849: 178589849
19 TTN NM_001267550.2(TTN): c.107840T> C (p.Ile35947Thr) single nucleotide variant Likely pathogenic rs281864928 GRCh37 Chromosome 2, 179391875: 179391875
20 TTN NM_001267550.2(TTN): c.107840T> C (p.Ile35947Thr) single nucleotide variant Likely pathogenic rs281864928 GRCh38 Chromosome 2, 178527148: 178527148
21 TTN NM_133378.4(TTN): c.12064C> T (p.Arg4022Ter) single nucleotide variant Pathogenic rs372277017 GRCh37 Chromosome 2, 179598224: 179598224
22 TTN NM_133378.4(TTN): c.12064C> T (p.Arg4022Ter) single nucleotide variant Pathogenic rs372277017 GRCh38 Chromosome 2, 178733497: 178733497
23 TTN NM_133378.4(TTN): c.5047C> T (p.Arg1683Ter) single nucleotide variant Pathogenic rs587780490 GRCh37 Chromosome 2, 179641544: 179641544
24 TTN NM_133378.4(TTN): c.5047C> T (p.Arg1683Ter) single nucleotide variant Pathogenic rs587780490 GRCh38 Chromosome 2, 178776817: 178776817
25 TTN NM_133378.4(TTN): c.90902G> C (p.Arg30301Pro) single nucleotide variant Likely pathogenic rs587780495 GRCh37 Chromosome 2, 179404186: 179404186
26 TTN NM_133378.4(TTN): c.90902G> C (p.Arg30301Pro) single nucleotide variant Likely pathogenic rs587780495 GRCh38 Chromosome 2, 178539459: 178539459
27 TTN NM_001256850.1(TTN): c.90211T> C (p.Cys30071Arg) single nucleotide variant Pathogenic rs869320740 GRCh37 Chromosome 2, 179410829: 179410829
28 TTN NM_001256850.1(TTN): c.90211T> C (p.Cys30071Arg) single nucleotide variant Pathogenic rs869320740 GRCh38 Chromosome 2, 178546102: 178546102
29 TTN NM_001256850.1(TTN): c.97348C> T (p.Arg32450Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs140319117 GRCh37 Chromosome 2, 179399071: 179399071
30 TTN NM_001256850.1(TTN): c.97348C> T (p.Arg32450Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs140319117 GRCh38 Chromosome 2, 178534344: 178534344
31 TTN NM_001256850.1(TTN): c.95477T> G (p.Val31826Gly) single nucleotide variant Uncertain significance rs200166942 GRCh37 Chromosome 2, 179401074: 179401074
32 TTN NM_001256850.1(TTN): c.95477T> G (p.Val31826Gly) single nucleotide variant Uncertain significance rs200166942 GRCh38 Chromosome 2, 178536347: 178536347
33 TTN NM_133378.4(TTN): c.89227A> G (p.Met29743Val) single nucleotide variant Uncertain significance rs727504981 GRCh37 Chromosome 2, 179407650: 179407650
34 TTN NM_133378.4(TTN): c.89227A> G (p.Met29743Val) single nucleotide variant Uncertain significance rs727504981 GRCh38 Chromosome 2, 178542923: 178542923
35 TTN NM_133379.4(TTN): c.*265+198852C> T single nucleotide variant Conflicting interpretations of pathogenicity rs373871146 GRCh37 Chromosome 2, 179411195: 179411195
36 TTN NM_133379.4(TTN): c.*265+198852C> T single nucleotide variant Conflicting interpretations of pathogenicity rs373871146 GRCh38 Chromosome 2, 178546468: 178546468
37 TTN NM_133378.4(TTN): c.84980G> A (p.Arg28327Gln) single nucleotide variant Uncertain significance rs200141081 GRCh37 Chromosome 2, 179413669: 179413669
38 TTN NM_133378.4(TTN): c.84980G> A (p.Arg28327Gln) single nucleotide variant Uncertain significance rs200141081 GRCh38 Chromosome 2, 178548942: 178548942
39 TTN NM_001256850.1(TTN): c.85066T> A (p.Leu28356Met) single nucleotide variant Conflicting interpretations of pathogenicity rs369855092 GRCh37 Chromosome 2, 179417638: 179417638
40 TTN NM_001256850.1(TTN): c.85066T> A (p.Leu28356Met) single nucleotide variant Conflicting interpretations of pathogenicity rs369855092 GRCh38 Chromosome 2, 178552911: 178552911
41 TTN NM_133378.4(TTN): c.79433T> G (p.Met26478Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs143975327 GRCh37 Chromosome 2, 179422944: 179422944
42 TTN NM_133378.4(TTN): c.79433T> G (p.Met26478Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs143975327 GRCh38 Chromosome 2, 178558217: 178558217
43 TTN NM_001256850.1(TTN): c.77015G> A (p.Gly25672Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs199670463 GRCh37 Chromosome 2, 179428921: 179428921
44 TTN NM_001256850.1(TTN): c.77015G> A (p.Gly25672Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs199670463 GRCh38 Chromosome 2, 178564194: 178564194
45 TTN NM_133378.4(TTN): c.73154C> T (p.Thr24385Met) single nucleotide variant Conflicting interpretations of pathogenicity rs377506142 GRCh37 Chromosome 2, 179430001: 179430001
46 TTN NM_133378.4(TTN): c.73154C> T (p.Thr24385Met) single nucleotide variant Conflicting interpretations of pathogenicity rs377506142 GRCh38 Chromosome 2, 178565274: 178565274
47 TTN NM_133378.4(TTN): c.72997A> G (p.Ile24333Val) single nucleotide variant Conflicting interpretations of pathogenicity rs201562505 GRCh37 Chromosome 2, 179430158: 179430158
48 TTN NM_133378.4(TTN): c.72997A> G (p.Ile24333Val) single nucleotide variant Conflicting interpretations of pathogenicity rs201562505 GRCh38 Chromosome 2, 178565431: 178565431
49 TTN NM_001267550.2(TTN): c.80115G> T (p.Glu26705Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs558830502 GRCh37 Chromosome 2, 179430744: 179430744
50 TTN NM_001267550.2(TTN): c.80115G> T (p.Glu26705Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs558830502 GRCh38 Chromosome 2, 178566017: 178566017

Expression for Tibial Muscular Dystrophy, Tardive

Search GEO for disease gene expression data for Tibial Muscular Dystrophy, Tardive.

Pathways for Tibial Muscular Dystrophy, Tardive

GO Terms for Tibial Muscular Dystrophy, Tardive

Sources for Tibial Muscular Dystrophy, Tardive

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