MCID: TBL022
MIFTS: 23

Tibial Muscular Dystrophy, Tardive

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 53 13 69
Udd Myopathy 53 55 71
Tmd 53 55 71
Tardive Tibial Muscular Dystrophy 53 71
Tibial Muscular Dystrophy 55 69
Finnish Tibial Muscular Dystrophy 55
Distal Myopathy, Udd Type 55
Distal Titinopathy 55

Characteristics:

Orphanet epidemiological data:

55
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:

53
Inheritance:
autosomal dominant

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


HPO:

31
tibial muscular dystrophy, tardive:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset slow progression incomplete penetrance


Classifications:

Orphanet: 55  
Rare neurological diseases


External Ids:

OMIM 53 600334
Orphanet 55 ORPHA609
UMLS via Orphanet 70 C1838244 C1450052
MESH via Orphanet 42 C536815
ICD10 via Orphanet 33 G71.0
MedGen 39 C1838244
UMLS 69 C1450052

Summaries for Tibial Muscular Dystrophy, Tardive

UniProtKB/Swiss-Prot : 71 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, and has symptoms including muscular dystrophy, steppage gait and rimmed vacuoles. An important gene associated with Tibial Muscular Dystrophy, Tardive is TTN (Titin).

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 11.5

Symptoms & Phenotypes for Tibial Muscular Dystrophy, Tardive

Symptoms via clinical synopsis from OMIM:

53
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:

31
# Description HPO Frequency HPO Source Accession
1 muscular dystrophy 31 HP:0003560
2 steppage gait 31 HP:0003376
3 rimmed vacuoles 31 HP:0003805
4 emg 31 HP:0003458

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

Publications for Tibial Muscular Dystrophy, Tardive

Articles related to Tibial Muscular Dystrophy, Tardive:

(show all 36)
# Title Authors Year
1
HER2 Transmembrane Domain (TMD) Mutations (V659/G660) That Stabilize Homo- and Heterodimerization Are Rare Oncogenic Drivers in Lung Adenocarcinoma That Respond to Afatinib. ( 27903463 )
2017
2
Cross-sectional study of anxiety symptoms and self-report of awake and sleep bruxism in female TMD patients. ( 27097685 )
2016
3
A survey on the potential relationships between TMD, possible sleep bruxism, unilateral chewing, and occlusal factors in Turkish university students. ( 27707365 )
2016
4
Gene expression profiling in tibial muscular dystrophy reveals unfolded protein response and altered autophagy. ( 24618559 )
2014
5
Bruxism and myofascial TMDs. ( 23449896 )
2013
6
Evidence Based Approach for the Diagnosis of Temporomandibular Joint Disorders (TMD). ( 24431765 )
2013
7
Headache and co-morbid pains associated with TMD pain in adolescents. ( 23813050 )
2013
8
Masticatory muscle disorders diagnostic criteria: the American Academy of Orofacial Pain versus the research diagnostic criteria/temporomandibular disorders (RDC/TMD). ( 22882635 )
2012
9
The relationship between malocclusion, benign joint hypermobility syndrome, condylar position and TMD symptoms. ( 22606856 )
2012
10
A 15q24 microdeletion in transient myeloproliferative disease (TMD) and acute megakaryoblastic leukaemia (AMKL) implicates PML and SUMO3 in the leukaemogenesis of TMD/AMKL. ( 22296450 )
2012
11
Differential diagnosis for orofacial pain, including sinusitis, TMD, trigeminal neuralgia. ( 21905353 )
2011
12
TMD, bruxism, and occlusion. ( 21457844 )
2011
13
Incidence of bruxism in TMD population. ( 22029117 )
2011
14
The first Italian family with tibial muscular dystrophy caused by a novel titin mutation. ( 19911250 )
2010
15
The NTI-tss device may be used successfully in the management of bruxism and TMD. ( 19322228 )
2009
16
Acute megakaryoblastic leukaemia (AMKL) and transient myeloproliferative disorder (TMD) in Down syndrome: a multi-step model of myeloid leukaemogenesis. ( 19594743 )
2009
17
Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD). ( 18948003 )
2008
18
Computer-based fabrication of occlusal splints for treatment of bruxism and TMD. ( 18477837 )
2008
19
Severe TMD/AMKL with GATA1 mutation in a stillborn fetus with Down syndrome. ( 17597708 )
2007
20
The use of splints for managing TMD and bruxism. ( 17715850 )
2007
21
Loss-of-function JAK3 mutations in TMD and AMKL of Down syndrome. ( 17456055 )
2007
22
Independent clones at separable stages of differentiation, bearing different GATA1 mutations, in the same TMD patient with Down syndrome. ( 16113234 )
2005
23
Tibial muscular dystrophy with late adult onset in a Spanish family. ( 16218196 )
2005
24
Muscle magnetic resonance imaging shows distinct diagnostic patterns in Welander and tibial muscular dystrophy. ( 15242415 )
2004
25
Tibial muscular dystrophy in a Belgian family. ( 12891679 )
2003
26
Terminal differentiation in vitro of patient-derived post-TMD megakaryoblastic AML cells. ( 12910377 )
2003
27
Prevalence of bruxism in patients with different research diagnostic criteria for temporomandibular disorders (RDC/TMD) diagnoses. ( 14620701 )
2003
28
Hostility in TMD/bruxism patients and controls: a clinical comparison study and preliminary results. ( 12403186 )
2002
29
Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. ( 12145747 )
2002
30
A new occlusal splint for treating bruxism and TMD during orthodontic therapy. ( 11314592 )
2001
31
Oral jaw behaviors in TMD and bruxism: a comparison study by severity of bruxism. ( 11842862 )
2001
32
Assignment of the tibial muscular dystrophy locus to chromosome 2q31. ( 9497249 )
1998
33
The first European family with tibial muscular dystrophy outside the Finnish population. ( 9855539 )
1998
34
Tibial muscular dystrophy--from clinical description to linkage on chromosome 2q31. ( 9673987 )
1998
35
Linkage analyses in tibial muscular dystrophy. ( 8666419 )
1996
36
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:

71
# 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 all 47)
# 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): c.100163T> C (p.Leu33388Pro) single nucleotide variant Pathogenic rs267607156 GRCh37 Chromosome 2, 179391848: 179391848
3 TTN NM_133378.4(TTN): c.100136T> A (p.Ile33379Asn) single nucleotide variant Pathogenic rs281864928 GRCh37 Chromosome 2, 179391875: 179391875
4 TTN NM_133378.4(TTN): c.100133A> C (p.His33378Pro) single nucleotide variant Pathogenic rs281864931 GRCh37 Chromosome 2, 179391878: 179391878
5 TTN NM_001256850.1(TTN): c.102966delA (p.Lys34322Asnfs) deletion Pathogenic rs281864930 GRCh37 Chromosome 2, 179391826: 179391826
6 TTN NM_133378.4(TTN): c.100186C> T (p.Gln33396Ter) single nucleotide variant Pathogenic rs281864929 GRCh37 Chromosome 2, 179391825: 179391825
7 TTN NM_133378.4(TTN): c.100188_100193delAGATGG (p.Gln33396_Gly33398delinsHis) deletion Pathogenic rs281864933 GRCh37 Chromosome 2, 179391818: 179391823
8 TTN NM_133378.4(TTN): c.99943delT (p.Ser33315Glnfs) deletion Pathogenic rs281864932 GRCh37 Chromosome 2, 179392206: 179392206
9 TTN NM_001256850.1(TTN): c.56953C> T (p.Arg18985Ter) single nucleotide variant Likely pathogenic rs72646846 GRCh37 Chromosome 2, 179454576: 179454576
10 TTN NM_001267550.2(TTN): c.107840T> C (p.Ile35947Thr) single nucleotide variant Likely pathogenic rs281864928 GRCh37 Chromosome 2, 179391875: 179391875
11 TTN NM_133378.4(TTN): c.12064C> T (p.Arg4022Ter) single nucleotide variant Pathogenic rs372277017 GRCh38 Chromosome 2, 178733497: 178733497
12 TTN NM_133378.4(TTN): c.5047C> T (p.Arg1683Ter) single nucleotide variant Pathogenic rs587780490 GRCh38 Chromosome 2, 178776817: 178776817
13 TTN NM_133378.4(TTN): c.90902G> C (p.Arg30301Pro) single nucleotide variant Likely pathogenic rs587780495 GRCh38 Chromosome 2, 178539459: 178539459
14 TTN NM_001256850.1(TTN): c.90211T> C (p.Cys30071Arg) single nucleotide variant Pathogenic rs869320740 GRCh37 Chromosome 2, 179410829: 179410829
15 TTN NM_001267550.2(TTN): c.67495C> T (p.Arg22499Ter) single nucleotide variant Pathogenic/Likely pathogenic rs574660186 GRCh37 Chromosome 2, 179444429: 179444429
16 TTN NM_001267550.2(TTN): c.49336dupT (p.Tyr16446Leufs) duplication Likely pathogenic rs797044683 GRCh37 Chromosome 2, 179478788: 179478788
17 TTN NM_001267550.2(TTN): c.53995G> T (p.Glu17999Ter) single nucleotide variant Likely pathogenic rs794727387 GRCh37 Chromosome 2, 179469909: 179469909
18 TTN NM_001267550.2(TTN): c.60681dupT (p.Lys20228Terfs) duplication Likely pathogenic rs797044692 GRCh37 Chromosome 2, 179455771: 179455771
19 TTN NM_001267550.2(TTN): c.79162G> T (p.Gly26388Ter) single nucleotide variant Likely pathogenic rs763822931 GRCh37 Chromosome 2, 179431697: 179431697
20 TTN NM_001267550.2(TTN): c.82544_82545insTTAG (p.Arg27515Serfs) insertion Likely pathogenic rs797044697 GRCh37 Chromosome 2, 179428314: 179428315
21 TTN NM_001267550.2(TTN): c.88594+1G> T single nucleotide variant Likely pathogenic rs794727467 GRCh37 Chromosome 2, 179419591: 179419591
22 TTN NM_001267550.2(TTN): c.88979_88985delATGGCGG (p.Asp29660Valfs) deletion Likely pathogenic rs794727468 GRCh37 Chromosome 2, 179418853: 179418859
23 TTN NM_001267550.2(TTN): c.99719C> G (p.Ser33240Ter) single nucleotide variant Likely pathogenic rs794727539 GRCh37 Chromosome 2, 179402215: 179402215
24 TTN NM_001267550.2(TTN): c.107163_107167delTACTT (p.Phe35721Leufs) deletion Likely pathogenic rs794727544 GRCh37 Chromosome 2, 179393311: 179393315
25 TTN NM_001256850.1(TTN): c.75927C> G (p.Tyr25309Ter) single nucleotide variant Likely pathogenic rs794729291 GRCh37 Chromosome 2, 179430009: 179430009
26 TTN NM_001256850.1(TTN): c.59757dupC (p.Gly19920Argfs) duplication Pathogenic/Likely pathogenic rs794729330 GRCh37 Chromosome 2, 179449688: 179449688
27 TTN NM_001256850.1(TTN): c.76114C> T (p.Arg25372Ter) single nucleotide variant Pathogenic/Likely pathogenic rs869038795 GRCh38 Chromosome 2, 178565095: 178565095
28 TTN NM_001256850.1(TTN): c.62425+1G> A single nucleotide variant Likely pathogenic rs758279518 GRCh37 Chromosome 2, 179444665: 179444665
29 TTN NM_001267550.2(TTN): c.66160+2T> C single nucleotide variant Likely pathogenic rs753146898 GRCh37 Chromosome 2, 179447021: 179447021
30 TTN NM_001256850.1(TTN): c.77113C> T (p.Gln25705Ter) single nucleotide variant Pathogenic/Likely pathogenic rs886042331 GRCh37 Chromosome 2, 179428823: 179428823
31 TTN NM_001267550.2(TTN): c.51883_51892delAAGCGTGCAG (p.Lys17295Hisfs) deletion Likely pathogenic rs886042414 GRCh37 Chromosome 2, 179474145: 179474154
32 TTN NM_001267550.2(TTN): c.70754delT (p.Val23585Glyfs) deletion Likely pathogenic rs886042441 GRCh37 Chromosome 2, 179440105: 179440105
33 TTN NM_001267550.2(TTN): c.91798_91799insT (p.Glu30600Valfs) insertion Likely pathogenic rs886042502 GRCh37 Chromosome 2, 179414766: 179414767
34 TTN indel Likely pathogenic GRCh37 Chromosome 2, 179433196: 179433213
35 TTN NM_001267550.2(TTN): c.54190+1G> A single nucleotide variant Likely pathogenic rs756339648 GRCh37 Chromosome 2, 179469713: 179469713
36 TTN NM_001267550.2(TTN): c.51459_51462delTGTA (p.Asp17153Glufs) deletion Likely pathogenic rs886043718 GRCh37 Chromosome 2, 179474688: 179474691
37 TTN NM_001267550.2(TTN): c.104399delG (p.Arg34800Lysfs) deletion Likely pathogenic rs747662439 GRCh37 Chromosome 2, 179396943: 179396943
38 TTN NM_001267550.2(TTN): c.99920_99921insTC (p.Ala33308Profs) insertion Likely pathogenic rs886043854 GRCh37 Chromosome 2, 179401915: 179401916
39 TTN NM_001256850.1(TTN): c.100831C> T (p.Arg33611Ter) single nucleotide variant Pathogenic/Likely pathogenic rs886043924 GRCh37 Chromosome 2, 179395588: 179395588
40 TTN NM_001267550.2(TTN): c.47629C> T (p.Gln15877Ter) single nucleotide variant Likely pathogenic rs886044009 GRCh37 Chromosome 2, 179482183: 179482183
41 TTN NM_001267550.2(TTN): c.78197dupA (p.Tyr26066Terfs) duplication Likely pathogenic GRCh37 Chromosome 2, 179432662: 179432662
42 TTN NM_001267550.2(TTN): c.56294delC (p.Thr18765Lysfs) deletion Likely pathogenic rs886044096 GRCh38 Chromosome 2, 178599607: 178599607
43 TTN NM_001267550.2(TTN): c.90561delT (p.Thr30188Leufs) deletion Likely pathogenic rs886044318 GRCh37 Chromosome 2, 179417066: 179417066
44 TTN NM_001267550.2(TTN): c.93396_93400delAGCTT (p.Trp31134Terfs) deletion Pathogenic/Likely pathogenic rs886044536 GRCh37 Chromosome 2, 179412953: 179412957
45 TTN NM_001267550.2(TTN): c.104413C> T (p.Arg34805Ter) single nucleotide variant Likely pathogenic rs750519430 GRCh37 Chromosome 2, 179396929: 179396929
46 TTN NM_001267550.2(TTN): c.68885_68888dupATAC (p.Ile22964Tyrfs) duplication Pathogenic/Likely pathogenic rs757603460 GRCh38 Chromosome 2, 178577447: 178577450
47 TTN NM_001267550.2(TTN): c.89221dupA (p.Ile29741Asnfs) duplication Likely pathogenic GRCh37 Chromosome 2, 179418511: 179418511

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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