MCID: TBL022
MIFTS: 21

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 54 13 69
Tibial Muscular Dystrophy 12 23 24 25 56 69
Udd Myopathy 12 23 24 25 56 71
Tmd 12 25 56 71
Tardive Tibial Muscular Dystrophy 12 25 71
Udd Distal Myopathy 23 24 25
Finnish Tibial Muscular Dystrophy 12 56
Distal Titinopathy 12 56
Udd-Markesbery Muscular Dystrophy 25
Distal Myopathy, Udd Type 56
Udd Type Distal Myopathy 12

Characteristics:

Orphanet epidemiological data:

56
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:

54
Miscellaneous:
cardiomyopathy is not a feature
incomplete penetrance
slow progression without marked disability
adult onset (after age 35 years)

Inheritance:
autosomal dominant


HPO:

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


GeneReviews:

23
Penetrance Penetrance is close to 100% at age 65 years...

Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 600334
Disease Ontology 12 DOID:0111078
ICD10 33 G71.0
MeSH 42 C536815
Orphanet 56 ORPHA609
UMLS via Orphanet 70 C1838244 C1450052
MESH via Orphanet 43 C536815
ICD10 via Orphanet 34 G71.0
MedGen 40 C1838244
UMLS 69 C1838244

Summaries for Tibial Muscular Dystrophy, Tardive

Genetics Home Reference : 25 Tibial muscular dystrophy is a condition that affects the muscles at the front of the lower leg. The signs and symptoms of this condition typically appear after age 35. The first sign is usually weakness and wasting (atrophy) of a muscle in the lower leg called the tibialis anterior. This muscle helps control up-and-down movement of the foot. Weakness in the tibialis anterior muscle makes it difficult or impossible to walk on the heels, but it usually does not interfere significantly with regular walking.

MalaCards based summary : Tibial Muscular Dystrophy, Tardive, also known as tibial muscular dystrophy, is related to myeloproliferative syndrome, transient and bruxism, and has symptoms including muscular dystrophy, steppage gait and rimmed vacuoles. An important gene associated with Tibial Muscular Dystrophy, Tardive is TTN (Titin).

Disease Ontology : 12 A distal muscular dystrophy characterized by autosomal dominant inheritance of late-onset muscular dystrophy beginning in the anterior comparment of the legs that has material basis in heterozygous mutation in the TTN gene on chromosome 2q31.

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.

Description from OMIM: 600334
GeneReviews: NBK1323

Related Diseases for Tibial Muscular Dystrophy, Tardive

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

id Related Disease Score Top Affiliating Genes
1 myeloproliferative syndrome, transient 11.0
2 bruxism 10.2
3 muscular dystrophy 10.1
4 myopathy 10.0
5 down syndrome 10.0
6 trigeminal neuralgia 9.7

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

Symptoms via clinical synopsis from OMIM:

54

Muscle Soft Tissue:
myopathy seen on emg
biopsy shows rimmed vacuoles, central nuclei, and variation in fiber size
replacement of affected muscle tissue with fatty tissue
reduced ankle dorsiflexion
'steppage' gait
more

Clinical features from OMIM:

600334

Human phenotypes related to Tibial Muscular Dystrophy, Tardive:

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

Genetic tests related to Tibial Muscular Dystrophy, Tardive:

id Genetic test Affiliating Genes
1 Udd Distal Myopathy 24 TTN

Anatomical Context for Tibial Muscular Dystrophy, Tardive

Publications for Tibial Muscular Dystrophy, Tardive

Variations for Tibial Muscular Dystrophy, Tardive

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

71
id 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)
id 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 Pathogenic/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 GRCh37 Chromosome 2, 179429822: 179429822
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 GRCh37 Chromosome 2, 179464334: 179464334
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 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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