TMD
MCID: TBL022
MIFTS: 28

Tibial Muscular Dystrophy, Tardive (TMD)

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

Aliases & Classifications for Tibial Muscular Dystrophy, Tardive

MalaCards integrated aliases for Tibial Muscular Dystrophy, Tardive:

Name: Tibial Muscular Dystrophy, Tardive 58 13 74
Udd Myopathy 58 60 76
Tmd 58 60 76
Tardive Tibial Muscular Dystrophy 58 76
Tibial Muscular Dystrophy 60 74
Finnish Tibial Muscular Dystrophy 60
Distal Myopathy, Udd Type 60
Distal Titinopathy 60

Characteristics:

Orphanet epidemiological data:

60
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:

58
Inheritance:
autosomal dominant

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


HPO:

33
tibial muscular dystrophy, tardive:
Onset and clinical course adult onset incomplete penetrance slow progression
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

OMIM 58 600334
MESH via Orphanet 46 C536815
ICD10 via Orphanet 35 G71.0
UMLS via Orphanet 75 C1450052 C1838244
Orphanet 60 ORPHA609
MedGen 43 C1838244

Summaries for Tibial Muscular Dystrophy, Tardive

UniProtKB/Swiss-Prot : 76 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 myeloproliferative syndrome, transient and tibial muscular dystrophy. An important gene associated with Tibial Muscular Dystrophy, Tardive is TTN (Titin). Affiliated tissues include skeletal muscle, and related phenotypes are emg: myopathic abnormalities and rimmed vacuoles

Description from OMIM: 600334

Related Diseases for Tibial Muscular Dystrophy, Tardive

Graphical network of the top 20 diseases related to Tibial Muscular Dystrophy, Tardive:



Diseases related to Tibial Muscular Dystrophy, Tardive

Symptoms & Phenotypes for Tibial Muscular Dystrophy, Tardive

Human phenotypes related to Tibial Muscular Dystrophy, Tardive:

60 33 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 emg: myopathic abnormalities 60 33 Frequent (79-30%) HP:0003458
2 rimmed vacuoles 60 33 Frequent (79-30%) HP:0003805
3 steppage gait 60 33 Frequent (79-30%) HP:0003376
4 myopathy 60 Frequent (79-30%)
5 cardiomyopathy 60 Excluded (0%)
6 proximal muscle weakness in lower limbs 60 Occasional (29-5%)
7 respiratory failure 60 Excluded (0%)
8 clumsiness 60 Occasional (29-5%)
9 difficulty walking 60 Frequent (79-30%)
10 mildly elevated creatine phosphokinase 60 Frequent (79-30%)
11 muscular dystrophy 33 HP:0003560
12 increased variability in muscle fiber diameter 60 Frequent (79-30%)
13 foot dorsiflexor weakness 60 Frequent (79-30%)
14 increased muscle lipid content 60 Frequent (79-30%)
15 peroneal muscle atrophy 60 Frequent (79-30%)
16 centrally nucleated skeletal muscle fibers 60 Frequent (79-30%)
17 quadriceps muscle weakness 60 Occasional (29-5%)
18 distal upper limb muscle weakness 60 Very rare (<4-1%)
19 weakness of long finger extensor muscles 60 Excluded (0%)
20 ankle weakness 60 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

58
Muscle Soft Tissue:
'steppage' gait
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
reduced ankle dorsiflexion
replacement of affected muscle tissue with fatty tissue
more

Clinical features from OMIM:

600334

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:

42
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:

76
# 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 2046)
# Gene Variation Type Significance SNP ID Assembly Location
1 TTN NM_001256850.1(TTN): c.97348C> T (p.Arg32450Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs140319117 GRCh38 Chromosome 2, 178534344: 178534344
2 TTN NM_001256850.1(TTN): c.97348C> T (p.Arg32450Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs140319117 GRCh37 Chromosome 2, 179399071: 179399071
3 TTN NM_001256850.1(TTN): c.95477T> G (p.Val31826Gly) single nucleotide variant Uncertain significance rs200166942 GRCh37 Chromosome 2, 179401074: 179401074
4 TTN NM_001256850.1(TTN): c.95477T> G (p.Val31826Gly) single nucleotide variant Uncertain significance rs200166942 GRCh38 Chromosome 2, 178536347: 178536347
5 TTN NM_133378.4(TTN): c.89227A> G (p.Met29743Val) single nucleotide variant Uncertain significance rs727504981 GRCh38 Chromosome 2, 178542923: 178542923
6 TTN NM_133378.4(TTN): c.89227A> G (p.Met29743Val) single nucleotide variant Uncertain significance rs727504981 GRCh37 Chromosome 2, 179407650: 179407650
7 TTN NM_133379.4(TTN): c.*265+198852C> T single nucleotide variant Conflicting interpretations of pathogenicity rs373871146 GRCh37 Chromosome 2, 179411195: 179411195
8 TTN NM_133379.4(TTN): c.*265+198852C> T single nucleotide variant Conflicting interpretations of pathogenicity rs373871146 GRCh38 Chromosome 2, 178546468: 178546468
9 TTN NM_133378.4(TTN): c.84980G> A (p.Arg28327Gln) single nucleotide variant Uncertain significance rs200141081 GRCh37 Chromosome 2, 179413669: 179413669
10 TTN NM_133378.4(TTN): c.84980G> A (p.Arg28327Gln) single nucleotide variant Uncertain significance rs200141081 GRCh38 Chromosome 2, 178548942: 178548942
11 TTN NM_001256850.1(TTN): c.85066T> A (p.Leu28356Met) single nucleotide variant Conflicting interpretations of pathogenicity rs369855092 GRCh38 Chromosome 2, 178552911: 178552911
12 TTN NM_001256850.1(TTN): c.85066T> A (p.Leu28356Met) single nucleotide variant Conflicting interpretations of pathogenicity rs369855092 GRCh37 Chromosome 2, 179417638: 179417638
13 TTN NM_133378.4(TTN): c.79433T> G (p.Met26478Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs143975327 GRCh38 Chromosome 2, 178558217: 178558217
14 TTN NM_133378.4(TTN): c.79433T> G (p.Met26478Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs143975327 GRCh37 Chromosome 2, 179422944: 179422944
15 TTN NM_001256850.1(TTN): c.77015G> A (p.Gly25672Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs199670463 GRCh37 Chromosome 2, 179428921: 179428921
16 TTN NM_001256850.1(TTN): c.77015G> A (p.Gly25672Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs199670463 GRCh38 Chromosome 2, 178564194: 178564194
17 TTN NM_133378.4(TTN): c.73154C> T (p.Thr24385Met) single nucleotide variant Conflicting interpretations of pathogenicity rs377506142 GRCh38 Chromosome 2, 178565274: 178565274
18 TTN NM_133378.4(TTN): c.73154C> T (p.Thr24385Met) single nucleotide variant Conflicting interpretations of pathogenicity rs377506142 GRCh37 Chromosome 2, 179430001: 179430001
19 TTN NM_133378.4(TTN): c.72997A> G (p.Ile24333Val) single nucleotide variant Conflicting interpretations of pathogenicity rs201562505 GRCh37 Chromosome 2, 179430158: 179430158
20 TTN NM_133378.4(TTN): c.72997A> G (p.Ile24333Val) single nucleotide variant Conflicting interpretations of pathogenicity rs201562505 GRCh38 Chromosome 2, 178565431: 178565431
21 TTN NM_001267550.2(TTN): c.80115G> T (p.Glu26705Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs558830502 GRCh38 Chromosome 2, 178566017: 178566017
22 TTN NM_001267550.2(TTN): c.80115G> T (p.Glu26705Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs558830502 GRCh37 Chromosome 2, 179430744: 179430744
23 TTN NM_133378.4(TTN): c.43974C> T (p.Asn14658=) single nucleotide variant Conflicting interpretations of pathogenicity rs372635204 GRCh37 Chromosome 2, 179474472: 179474472
24 TTN NM_133378.4(TTN): c.43974C> T (p.Asn14658=) single nucleotide variant Conflicting interpretations of pathogenicity rs372635204 GRCh38 Chromosome 2, 178609745: 178609745
25 TTN NM_001256850.1(TTN): c.43055C> A (p.Thr14352Asn) single nucleotide variant Uncertain significance rs727503622 GRCh37 Chromosome 2, 179481638: 179481638
26 TTN NM_001256850.1(TTN): c.43055C> A (p.Thr14352Asn) single nucleotide variant Uncertain significance rs727503622 GRCh38 Chromosome 2, 178616911: 178616911
27 TTN NM_133378.4(TTN): c.39143C> T (p.Thr13048Met) single nucleotide variant Conflicting interpretations of pathogenicity rs368057764 GRCh37 Chromosome 2, 179483430: 179483430
28 TTN NM_133378.4(TTN): c.39143C> T (p.Thr13048Met) single nucleotide variant Conflicting interpretations of pathogenicity rs368057764 GRCh38 Chromosome 2, 178618703: 178618703
29 TTN NM_001267550.2(TTN): c.107961T> C (p.His35987=) single nucleotide variant Conflicting interpretations of pathogenicity rs377439315 GRCh38 Chromosome 2, 178527027: 178527027
30 TTN NM_001267550.2(TTN): c.107961T> C (p.His35987=) single nucleotide variant Conflicting interpretations of pathogenicity rs377439315 GRCh37 Chromosome 2, 179391754: 179391754
31 TTN NM_133378.4(TTN): c.65900C> A (p.Ser21967Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs201804005 GRCh37 Chromosome 2, 179437255: 179437255
32 TTN NM_133378.4(TTN): c.65900C> A (p.Ser21967Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs201804005 GRCh38 Chromosome 2, 178572528: 178572528
33 TTN NM_133378.4(TTN): c.62427A> G (p.Thr20809=) single nucleotide variant Conflicting interpretations of pathogenicity rs369503828 GRCh37 Chromosome 2, 179440728: 179440728
34 TTN NM_133378.4(TTN): c.62427A> G (p.Thr20809=) single nucleotide variant Conflicting interpretations of pathogenicity rs369503828 GRCh38 Chromosome 2, 178576001: 178576001
35 TTN NM_133378.4(TTN): c.60733G> A (p.Glu20245Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs200797552 GRCh38 Chromosome 2, 178578078: 178578078
36 TTN NM_133378.4(TTN): c.60733G> A (p.Glu20245Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs200797552 GRCh37 Chromosome 2, 179442805: 179442805
37 TTN NM_133378.4(TTN): c.58456+15C> T single nucleotide variant Conflicting interpretations of pathogenicity rs377288086 GRCh38 Chromosome 2, 178582281: 178582281
38 TTN NM_133378.4(TTN): c.58456+15C> T single nucleotide variant Conflicting interpretations of pathogenicity rs377288086 GRCh37 Chromosome 2, 179447008: 179447008
39 TTN NM_133378.4(TTN): c.58042C> T (p.Arg19348Trp) single nucleotide variant Uncertain significance rs200155485 GRCh37 Chromosome 2, 179447784: 179447784
40 TTN NM_133378.4(TTN): c.58042C> T (p.Arg19348Trp) single nucleotide variant Uncertain significance rs200155485 GRCh38 Chromosome 2, 178583057: 178583057
41 TTN NM_001256850.1(TTN): c.57352G> A (p.Glu19118Lys) single nucleotide variant Uncertain significance rs562680371 GRCh37 Chromosome 2, 179454177: 179454177
42 TTN NM_001256850.1(TTN): c.57352G> A (p.Glu19118Lys) single nucleotide variant Uncertain significance rs562680371 GRCh38 Chromosome 2, 178589450: 178589450
43 TTN NM_133378.4(TTN): c.48699A> G (p.Gln16233=) single nucleotide variant Conflicting interpretations of pathogenicity rs553313488 GRCh37 Chromosome 2, 179464117: 179464117
44 TTN NM_133378.4(TTN): c.48699A> G (p.Gln16233=) single nucleotide variant Conflicting interpretations of pathogenicity rs553313488 GRCh38 Chromosome 2, 178599390: 178599390
45 TTN NM_133378.4(TTN): c.48221T> A (p.Leu16074Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs140714512 GRCh38 Chromosome 2, 178600979: 178600979
46 TTN NM_133378.4(TTN): c.48221T> A (p.Leu16074Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs140714512 GRCh37 Chromosome 2, 179465706: 179465706
47 TTN NM_133378.4(TTN): c.99673+14C> T single nucleotide variant Conflicting interpretations of pathogenicity rs367908657 GRCh38 Chromosome 2, 178528260: 178528260
48 TTN NM_133378.4(TTN): c.99673+14C> T single nucleotide variant Conflicting interpretations of pathogenicity rs367908657 GRCh37 Chromosome 2, 179392987: 179392987
49 TTN NM_001256850.1(TTN): c.101897C> T (p.Ala33966Val) single nucleotide variant Conflicting interpretations of pathogenicity rs377337528 GRCh38 Chromosome 2, 178528931: 178528931
50 TTN NM_001256850.1(TTN): c.101897C> T (p.Ala33966Val) single nucleotide variant Conflicting interpretations of pathogenicity rs377337528 GRCh37 Chromosome 2, 179393658: 179393658

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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