TMD
MCID: TBL022
MIFTS: 36

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 57 13 71
Udd Myopathy 57 58 73 6
Tmd 57 58 73
Tardive Tibial Muscular Dystrophy 57 73
Tibial Muscular Dystrophy 58 71
Finnish Tibial Muscular Dystrophy 58
Distal Myopathy, Udd Type 58
Distal Titinopathy 58

Characteristics:

Orphanet epidemiological data:

58
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 (Updated 05-Mar-2021)
Miscellaneous:
incomplete penetrance
adult onset (after age 35 years)
slow progression without marked disability
cardiomyopathy is not a feature

Inheritance:
autosomal dominant


HPO:

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


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM® 57 600334
MESH via Orphanet 45 C536815
ICD10 via Orphanet 33 G71.0
UMLS via Orphanet 72 C1450052 C1838244
Orphanet 58 ORPHA609
MedGen 41 C1838244
UMLS 71 C1450052 C1838244

Summaries for Tibial Muscular Dystrophy, Tardive

UniProtKB/Swiss-Prot : 73 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 limb-girdle 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

More information 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:

(show top 50) (show all 124)
# Related Disease Score Top Affiliating Genes
1 tibial muscular dystrophy 31.8 TTN-AS1 TTN
2 limb-girdle muscular dystrophy 29.6 TTN-AS1 TTN
3 muscular dystrophy, limb-girdle, autosomal recessive 10 29.6 TTN-AS1 TTN
4 muscular dystrophy 29.4 TTN-AS1 TTN
5 neuromuscular disease 29.2 TTN-AS1 TTN
6 myeloproliferative syndrome, transient 11.1
7 chronic pain 10.6
8 bruxism 10.5
9 headache 10.4
10 whiplash 10.3
11 greig cephalopolysyndactyly syndrome 10.2
12 down syndrome 10.2
13 foot drop 10.2
14 autosomal dominant distal myopathy 10.2
15 myeloproliferative neoplasm 10.2
16 fibromyalgia 10.2
17 temporomandibular joint anomaly 10.2
18 migraine with or without aura 1 10.1
19 anxiety 10.1
20 sleep apnea 10.0
21 pain agnosia 10.0
22 exostosis 10.0
23 acute megakaryocytic leukemia 10.0
24 chromosomal triplication 10.0
25 back pain 10.0
26 muscular dystrophy, limb-girdle, autosomal recessive 1 10.0
27 welander distal myopathy 10.0
28 skeletal muscle disease 10.0
29 autosomal recessive limb-girdle muscular dystrophy type 2j 10.0
30 branchiootic syndrome 1 9.9
31 alexithymia 9.9
32 arthropathy 9.9
33 myopathy 9.9
34 sleep disorder 9.9
35 chronic fatigue syndrome 9.9
36 hypermobile ehlers-danlos syndrome 9.9
37 left ventricular noncompaction 2 9.8 TTN-AS1 TTN
38 left ventricular noncompaction 9.8 TTN-AS1 TTN
39 multiminicore disease 9.8 TTN-AS1 TTN
40 hereditary proximal myopathy with early respiratory failure 9.8 TTN-AS1 TTN
41 respiratory failure 9.8 TTN-AS1 TTN
42 salih myopathy 9.8 TTN-AS1 TTN
43 third-degree atrioventricular block 9.8 TTN-AS1 TTN
44 atrioventricular block 9.8 TTN-AS1 TTN
45 arrhythmogenic right ventricular dysplasia, familial, 1 9.8 TTN-AS1 TTN
46 lmna-related dilated cardiomyopathy 9.8 TTN-AS1 TTN
47 cardiomyopathy, familial hypertrophic, 9 9.8 TTN-AS1 TTN
48 myopathy, myofibrillar, 9, with early respiratory failure 9.8 TTN-AS1 TTN
49 cardiomyopathy, dilated, 1h 9.8 TTN-AS1 TTN
50 cardiomyopathy, dilated, 1a 9.8 TTN-AS1 TTN

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:

58 31 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 emg: myopathic abnormalities 58 31 Frequent (79-30%) HP:0003458
2 rimmed vacuoles 58 31 Frequent (79-30%) HP:0003805
3 steppage gait 58 31 Frequent (79-30%) HP:0003376
4 myopathy 58 Frequent (79-30%)
5 proximal muscle weakness in lower limbs 58 Occasional (29-5%)
6 respiratory failure 58 Excluded (0%)
7 muscular dystrophy 31 HP:0003560
8 clumsiness 58 Occasional (29-5%)
9 cardiomyopathy 58 Excluded (0%)
10 mildly elevated creatine kinase 58 Frequent (79-30%)
11 quadriceps muscle weakness 58 Occasional (29-5%)
12 increased muscle lipid content 58 Frequent (79-30%)
13 difficulty walking 58 Frequent (79-30%)
14 increased variability in muscle fiber diameter 58 Frequent (79-30%)
15 centrally nucleated skeletal muscle fibers 58 Frequent (79-30%)
16 distal upper limb muscle weakness 58 Very rare (<4-1%)
17 foot dorsiflexor weakness 58 Frequent (79-30%)
18 weakness of long finger extensor muscles 58 Excluded (0%)
19 peroneal muscle atrophy 58 Frequent (79-30%)
20 ankle weakness 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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:

40
Skeletal Muscle

Publications for Tibial Muscular Dystrophy, Tardive

Articles related to Tibial Muscular Dystrophy, Tardive:

(show all 21)
# Title Authors PMID Year
1
Tibial muscular dystrophy in a Belgian family. 6 57
12891679 2003
2
Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. 6 57
12145747 2002
3
Interactions with M-band titin and calpain 3 link myospryn (CMYA5) to tibial and limb-girdle muscular dystrophies. 6
20634290 2010
4
Autosomal dominant distal myopathy not linked to the known distal myopathy loci. 57
10220859 1999
5
The first European family with tibial muscular dystrophy outside the Finnish population. 57
9855539 1998
6
Assignment of the tibial muscular dystrophy locus to chromosome 2q31. 57
9497249 1998
7
Late onset foot-drop muscular dystrophy with rimmed vacuoles. 57
7807161 1994
8
Tibial muscular dystrophy. Late adult-onset distal myopathy in 66 Finnish patients. 57
8503797 1993
9
Vacuolar myopathy sparing the quadriceps. 57
8453459 1993
10
Nonvacuolar myopathy in a large family with both late adult onset distal myopathy and severe proximal muscular dystrophy. 57
1487757 1992
11
Limb-girdle type muscular dystrophy in a large family with distal myopathy: homozygous manifestation of a dominant gene? 57
1619633 1992
12
Muscular dystrophy with separate clinical phenotypes in a large family. 57
1745277 1991
13
Distal myopathy with rimmed vacuole formation. A follow-up study. 57
2645018 1989
14
Autosomal recessive distal muscular dystrophy as a new type of progressive muscular dystrophy. Seventeen cases in eight families including an autopsied case. 57
3942856 1986
15
A new type of hereditary distal myopathy with characteristic sarcoplasmic bodies and intermediate (skeletin) filaments. 57
6251174 1980
16
Distal myopathy: electron microscopic and histochemical studies. 57
196233 1977
17
Histochemical and histopathological changes in skeletal muscle in late-onset hereditary distal myopathy (Welander). 57
126303 1975
18
Late onset hereditary distal myopathy. 57
4855680 1974
19
The first Italian family with tibial muscular dystrophy caused by a novel titin mutation. 61
19911250 2010
20
Distal myopathies. 61
16155432 2005
21
Distal myopathies. 61
10787109 2000

Variations for Tibial Muscular Dystrophy, Tardive

ClinVar genetic disease variations for Tibial Muscular Dystrophy, Tardive:

6 (show top 50) (show all 2004)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TTN-AS1 NM_003319.4(TTN):c.80585_80595delinsTGAAAGAAAAA (p.Glu26862_Trp26865delinsValLysGluLys) Indel Pathogenic 12652 rs281864927 2:179391925-179391935 2:178527198-178527208
2 TTN-AS1 NM_001267550.2(TTN):c.107867T>C (p.Leu35956Pro) SNV Pathogenic 12653 rs267607156 2:179391848-179391848 2:178527121-178527121
3 TTN-AS1 NM_001267550.2(TTN):c.107840T>A (p.Ile35947Asn) SNV Pathogenic 12654 rs281864928 2:179391875-179391875 2:178527148-178527148
4 TTN-AS1 NM_001267550.2(TTN):c.107837A>C (p.His35946Pro) SNV Pathogenic 38438 rs281864931 2:179391878-179391878 2:178527151-178527151
5 TTN-AS1 NM_001267550.2(TTN):c.107890C>T (p.Gln35964Ter) SNV Pathogenic 38440 rs281864929 2:179391825-179391825 2:178527098-178527098
6 TTN-AS1 NM_001267550.2(TTN):c.107892_107897del (p.Gln35964_Gly35966delinsHis) Deletion Pathogenic 38441 rs281864933 2:179391818-179391823 2:178527091-178527096
7 TTN-AS1 NM_001267550.2(TTN):c.107647del (p.Ser35883fs) Deletion Pathogenic 38442 rs281864932 2:179392206-179392206 2:178527479-178527479
8 TTN NM_001267550.2(TTN):c.15796C>T (p.Arg5266Ter) SNV Pathogenic 130662 rs372277017 2:179598224-179598224 2:178733497-178733497
9 TTN NM_001267550.2(TTN):c.5047C>T (p.Arg1683Ter) SNV Pathogenic 130673 rs587780490 2:179641544-179641544 2:178776817-178776817
10 TTN NM_001267550.2(TTN):c.6555_6556insTGTAAGGAAACAGACA (p.Lys2186fs) Insertion Pathogenic 130679 rs587780494 2:179639882-179639883 2:178775155-178775156
11 TTN NM_001267550.2(TTN):c.16288C>T (p.Arg5430Ter) SNV Pathogenic 282527 rs772235481 2:179597615-179597615 2:178732888-178732888
12 TTN NM_133378.4(TTN):c.10361-1G>A SNV Pathogenic 223347 rs869312099 2:179603088-179603088 2:178738361-178738361
13 TTN-AS1 NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter) SNV Pathogenic 180573 rs574660186 2:179444429-179444429 2:178579702-178579702
14 TTN-AS1 NM_001267550.2(TTN):c.75134_75137AGAA[1] (p.Lys25046fs) Microsatellite Pathogenic 202467 rs794729340 2:179435718-179435721 2:178570991-178570994
15 TTN-AS1 NM_001267550.2(TTN):c.82657G>T (p.Gly27553Ter) SNV Pathogenic 488810 rs869178171 2:179428202-179428202 2:178563475-178563475
16 TTN-AS1 NM_001267550.2(TTN):c.50083C>T (p.Arg16695Ter) SNV Pathogenic 202377 rs751502842 2:179477169-179477169 2:178612442-178612442
17 TTN-AS1 NM_001267550.2(TTN):c.107889del (p.Lys35963fs) Deletion Pathogenic 38439 rs281864930 2:179391826-179391826 2:178527099-178527099
18 TTN-AS1 NM_001267550.2(TTN):c.47961del (p.Gly15988fs) Deletion Pathogenic 523430 rs1553707780 2:179481655-179481655 2:178616928-178616928
19 TTN-AS1 NM_001267550.2(TTN):c.103360del (p.Glu34454fs) Deletion Pathogenic 374145 rs760768093 2:179397982-179397982 2:178533255-178533255
20 TTN-AS1 NM_001267550.2(TTN):c.79599_79621del (p.Glu26533fs) Deletion Likely pathogenic 932043 2:179431238-179431260 2:178566511-178566533
21 TTN-AS1 NM_001267550.2(TTN):c.104092_104103delinsGAAGCTTT (p.Arg34698fs) Indel Likely pathogenic 932091 2:179397239-179397250 2:178532512-178532523
22 TTN-AS1 NM_001267550.2(TTN):c.58368dup (p.Tyr19457fs) Duplication Likely pathogenic 931526 2:179458751-179458752 2:178594024-178594025
23 TTN NM_001267550.2(TTN):c.32471-1G>A SNV Likely pathogenic 194146 rs371725574 2:179549717-179549717 2:178684990-178684990
24 TTN-AS1 NM_001267550.2(TTN):c.89221dup (p.Ile29741fs) Duplication Likely pathogenic 417932 rs1553543413 2:179418510-179418511 2:178553783-178553784
25 TTN-AS1 NM_001267550.2(TTN):c.98606G>C (p.Arg32869Pro) SNV Likely pathogenic 130686 rs587780495 2:179404186-179404186 2:178539459-178539459
26 TTN-AS1 NM_001267550.2(TTN):c.107840T>C (p.Ile35947Thr) SNV Likely pathogenic 56386 rs281864928 2:179391875-179391875 2:178527148-178527148
27 TTN-AS1 NM_001267550.2(TTN):c.105383C>T (p.Ala35128Val) SNV Conflicting interpretations of pathogenicity 332687 rs758458467 2:179395959-179395959 2:178531232-178531232
28 TTN NM_001267550.2(TTN):c.31456A>T (p.Ile10486Phe) SNV Conflicting interpretations of pathogenicity 332894 rs772882862 2:179558706-179558706 2:178693979-178693979
29 TTN NM_001267550.2(TTN):c.266C>G (p.Ala89Gly) SNV Conflicting interpretations of pathogenicity 192099 rs200165636 2:179666894-179666894 2:178802167-178802167
30 TTN NM_001267550.2(TTN):c.3241G>A (p.Ala1081Thr) SNV Conflicting interpretations of pathogenicity 46931 rs55914517 2:179647078-179647078 2:178782351-178782351
31 TTN NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe) SNV Conflicting interpretations of pathogenicity 46841 rs111671438 2:179563606-179563606 2:178698879-178698879
32 TTN NM_001267550.2(TTN):c.24891G>T (p.Trp8297Cys) SNV Uncertain significance 167799 rs727504205 2:179582842-179582842 2:178718115-178718115
33 TTN-AS1 NM_001267550.2(TTN):c.71723G>A (p.Gly23908Asp) SNV Uncertain significance 179862 rs540161344 2:179439136-179439136 2:178574409-178574409
34 TTN-AS1 NM_001267550.2(TTN):c.70570A>G (p.Thr23524Ala) SNV Uncertain significance 202827 rs369526268 2:179440289-179440289 2:178575562-178575562
35 TTN-AS1 NM_001267550.2(TTN):c.68824G>A (p.Glu22942Lys) SNV Uncertain significance 96298 rs199506676 2:179442329-179442329 2:178577602-178577602
36 TTN-AS1 NM_001267550.2(TTN):c.66391A>G (p.Thr22131Ala) SNV Uncertain significance 47234 rs140842479 2:179446705-179446705 2:178581978-178581978
37 TTN NM_001267550.2(TTN):c.37408G>T (p.Val12470Leu) SNV Uncertain significance 96282 rs398124448 2:179523777-179523777 2:178659050-178659050
38 TTN NM_001267550.2(TTN):c.32767A>C (p.Lys10923Gln) SNV Uncertain significance 179053 rs367720439 2:179548765-179548765 2:178684038-178684038
39 TTN-AS1 NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser) SNV Uncertain significance 47520 rs72648247 2:179414177-179414177 2:178549450-178549450
40 TTN NM_001267550.2(TTN):c.16212G>C (p.Arg5404Ser) SNV Uncertain significance 931527 2:179597691-179597691 2:178732964-178732964
41 TTN NM_001267550.2(TTN):c.11312-3963G>T SNV Uncertain significance 166247 rs148430495 2:179610611-179610611 2:178745884-178745884
42 TTN NM_001267550.2(TTN):c.17278del (p.Thr5760fs) Deletion Uncertain significance 931567 2:179596215-179596215 2:178731488-178731488
43 TTN NM_001267550.2(TTN):c.11311+4088A>G SNV Uncertain significance 47753 rs142304137 2:179613763-179613763 2:178749036-178749036
44 TTN NM_001267550.2(TTN):c.12614T>C (p.Leu4205Ser) SNV Uncertain significance 374150 rs1057518931 2:179605346-179605346 2:178740619-178740619
45 TTN NM_001267550.2(TTN):c.46172C>T (p.Thr15391Ile) SNV Uncertain significance 894792 2:179485076-179485076 2:178620349-178620349
46 TTN NM_001267550.2(TTN):c.36790+5G>T SNV Uncertain significance 894793 2:179527688-179527688 2:178662961-178662961
47 TTN NM_001267550.2(TTN):c.27328+19C>G SNV Uncertain significance 930383 2:179577405-179577405 2:178712678-178712678
48 TTN NM_001267550.2(TTN):c.27709T>C (p.Ser9237Pro) SNV Uncertain significance 932120 2:179576848-179576848 2:178712121-178712121
49 TTN-AS1 NM_001267550.2(TTN):c.76922G>A (p.Arg25641His) SNV Uncertain significance 202874 rs369707906 2:179433937-179433937 2:178569210-178569210
50 TTN-AS1 NM_001267550.2(TTN):c.99415A>G (p.Lys33139Glu) SNV Uncertain significance 332707 rs779723670 2:179402519-179402519 2:178537792-178537792

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

73
# Symbol AA change Variation ID SNP ID
1 TTN p.Ile34306Asn VAR_026694 rs281864928
2 TTN p.Leu34315Pro VAR_026695 rs267607156

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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