TMD
MCID: TBL022
MIFTS: 33

Tibial Muscular Dystrophy, Tardive (TMD)

Categories: Genetic diseases, Muscle diseases
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Aliases & Classifications for Tibial Muscular Dystrophy, Tardive

MalaCards integrated aliases for Tibial Muscular Dystrophy, Tardive:

Name: Tibial Muscular Dystrophy, Tardive 57 12 71
Udd Myopathy 57 73 5
Tardive Tibial Muscular Dystrophy 57 73
Tmd 57 73
Tibial Muscular Dystrophy 71

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
incomplete penetrance
adult onset (after age 35 years)
slow progression without marked disability
cardiomyopathy is not a feature


HPO:

30
tibial muscular dystrophy, tardive:
Onset and clinical course slowly progressive


Classifications:



External Ids:

OMIM® 57 600334
MedGen 40 C1838244
SNOMED-CT via HPO 69 193225000 27253007 73297009
UMLS 71 C1450052 C1838244

Summaries for Tibial Muscular Dystrophy, Tardive

UniProtKB/Swiss-Prot: 73 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 myopathy. 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 135)
# Related Disease Score Top Affiliating Genes
1 tibial muscular dystrophy 31.9 TTN-AS1 TTN
2 myopathy 29.6 TTN-AS1 TTN
3 muscular dystrophy 29.4 TTN-AS1 TTN
4 muscular dystrophy, limb-girdle, autosomal recessive 10 29.4 TTN-AS1 TTN
5 autosomal recessive limb-girdle muscular dystrophy type 2j 29.4 TTN-AS1 TTN
6 cardiomyopathy, dilated, 1g 29.4 TTN-AS1 TTN
7 neuromuscular disease 29.2 TTN-AS1 TTN
8 dilated cardiomyopathy 28.9 TTN-AS1 TTN
9 myeloproliferative syndrome, transient 11.5
10 temporomandibular joint anomaly 11.2
11 chronic pain 10.6
12 bruxism 10.6
13 headache 10.5
14 greig cephalopolysyndactyly syndrome 10.4
15 osteoarthritis 10.4
16 whiplash 10.3
17 ceroid lipofuscinosis, neuronal, 5 10.3
18 anxiety 10.3
19 down syndrome 10.3
20 myeloproliferative neoplasm 10.2
21 migraine with or without aura 1 10.2
22 arthropathy 10.2
23 fibromyalgia 10.2
24 acute megakaryocytic leukemia 10.2
25 generalized anxiety disorder 10.1
26 exostosis 10.1
27 sleep disorder 10.1
28 apnea, obstructive sleep 10.0
29 autoimmune disease 9.9
30 paine syndrome 9.9
31 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 9.9
32 tatton-brown-rahman syndrome 9.9
33 alexithymia 9.9
34 pain agnosia 9.9
35 body dysmorphic disorder 9.9
36 chromosome 15q24 deletion syndrome 9.9
37 leukemia 9.9
38 chronic fatigue syndrome 9.9
39 hypermobile ehlers-danlos syndrome 9.9
40 left ventricular noncompaction 2 9.8 TTN-AS1 TTN
41 left ventricular noncompaction 9.8 TTN-AS1 TTN
42 salih myopathy 9.8 TTN-AS1 TTN
43 cardiomyopathy, familial hypertrophic, 9 9.8 TTN-AS1 TTN
44 limb-girdle muscular dystrophy 9.8 TTN-AS1 TTN
45 arrhythmogenic right ventricular dysplasia, familial, 1 9.8 TTN-AS1 TTN
46 cardiomyopathy, dilated, 1b 9.8 TTN-AS1 TTN
47 myopathy, myofibrillar, 9, with early respiratory failure 9.8 TTN-AS1 TTN
48 multiminicore disease 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:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 emg: myopathic abnormalities 30 HP:0003458
2 rimmed vacuoles 30 HP:0003805
3 steppage gait 30 HP:0003376
4 muscular dystrophy 30 HP:0003560

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

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

Organs/tissues related to Tibial Muscular Dystrophy, Tardive:

MalaCards : Skeletal Muscle

Publications for Tibial Muscular Dystrophy, Tardive

Articles related to Tibial Muscular Dystrophy, Tardive:

(show all 22)
# Title Authors PMID Year
1
Tibial muscular dystrophy in a Belgian family. 57 5
12891679 2003
2
Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. 57 5
12145747 2002
3
Truncations of titin causing dilated cardiomyopathy. 5
22335739 2012
4
Interactions with M-band titin and calpain 3 link myospryn (CMYA5) to tibial and limb-girdle muscular dystrophies. 5
20634290 2010
5
Autosomal dominant distal myopathy not linked to the known distal myopathy loci. 57
10220859 1999
6
The first European family with tibial muscular dystrophy outside the Finnish population. 57
9855539 1998
7
Assignment of the tibial muscular dystrophy locus to chromosome 2q31. 57
9497249 1998
8
Late onset foot-drop muscular dystrophy with rimmed vacuoles. 57
7807161 1994
9
Tibial muscular dystrophy. Late adult-onset distal myopathy in 66 Finnish patients. 57
8503797 1993
10
Vacuolar myopathy sparing the quadriceps. 57
8453459 1993
11
Nonvacuolar myopathy in a large family with both late adult onset distal myopathy and severe proximal muscular dystrophy. 57
1487757 1992
12
Limb-girdle type muscular dystrophy in a large family with distal myopathy: homozygous manifestation of a dominant gene? 57
1619633 1992
13
Muscular dystrophy with separate clinical phenotypes in a large family. 57
1745277 1991
14
Distal myopathy with rimmed vacuole formation. A follow-up study. 57
2645018 1989
15
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
16
A new type of hereditary distal myopathy with characteristic sarcoplasmic bodies and intermediate (skeletin) filaments. 57
6251174 1980
17
Distal myopathy: electron microscopic and histochemical studies. 57
196233 1977
18
Histochemical and histopathological changes in skeletal muscle in late-onset hereditary distal myopathy (Welander). 57
126303 1975
19
Late onset hereditary distal myopathy. 57
4855680 1974
20
The first Italian family with tibial muscular dystrophy caused by a novel titin mutation. 62
19911250 2010
21
Distal myopathies. 62
16155432 2005
22
Distal myopathies. 62
10787109 2000

Variations for Tibial Muscular Dystrophy, Tardive

ClinVar genetic disease variations for Tibial Muscular Dystrophy, Tardive:

5 (show top 50) (show all 2302)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TTN-AS1, TTN NM_001267550.2(TTN):c.107780_107790delinsTGAAAGAAAAA (p.Glu35927_Trp35930delinsValLysGluLys) INDEL Pathogenic
12652 rs281864927 GRCh37: 2:179391925-179391935
GRCh38: 2:178527198-178527208
2 TTN-AS1, TTN NM_001267550.2(TTN):c.107867T>C (p.Leu35956Pro) SNV Pathogenic
12653 rs267607156 GRCh37: 2:179391848-179391848
GRCh38: 2:178527121-178527121
3 TTN-AS1, TTN NM_001267550.2(TTN):c.107840T>A (p.Ile35947Asn) SNV Pathogenic
12654 rs281864928 GRCh37: 2:179391875-179391875
GRCh38: 2:178527148-178527148
4 TTN-AS1, TTN NM_001267550.2(TTN):c.107890C>T (p.Gln35964Ter) SNV Pathogenic
38440 rs281864929 GRCh37: 2:179391825-179391825
GRCh38: 2:178527098-178527098
5 TTN-AS1, TTN NM_001267550.2(TTN):c.107892_107897del (p.Gln35964_Gly35966delinsHis) DEL Pathogenic
38441 rs281864933 GRCh37: 2:179391818-179391823
GRCh38: 2:178527091-178527096
6 TTN-AS1, TTN NM_001267550.2(TTN):c.107647del (p.Ser35883fs) DEL Pathogenic
38442 rs281864932 GRCh37: 2:179392206-179392206
GRCh38: 2:178527479-178527479
7 TTN NM_001267550.2(TTN):c.15796C>T (p.Arg5266Ter) SNV Pathogenic
130662 rs372277017 GRCh37: 2:179598224-179598224
GRCh38: 2:178733497-178733497
8 TTN NM_001267550.2(TTN):c.16288C>T (p.Arg5430Ter) SNV Pathogenic
282527 rs772235481 GRCh37: 2:179597615-179597615
GRCh38: 2:178732888-178732888
9 TTN-AS1, TTN NM_001267550.2(TTN):c.50083C>T (p.Arg16695Ter) SNV Pathogenic
202377 rs751502842 GRCh37: 2:179477169-179477169
GRCh38: 2:178612442-178612442
10 TTN-AS1, TTN NM_001267550.2(TTN):c.82657G>T (p.Gly27553Ter) SNV Pathogenic
488810 rs869178171 GRCh37: 2:179428202-179428202
GRCh38: 2:178563475-178563475
11 TTN-AS1, TTN NM_001267550.2(TTN):c.65863+1G>A SNV Pathogenic
1686283 GRCh37: 2:179447666-179447666
GRCh38: 2:178582939-178582939
12 TTN NM_001267550.2(TTN):c.35154dup (p.Val11719fs) DUP Pathogenic
843125 rs2067087661 GRCh37: 2:179536770-179536771
GRCh38: 2:178672043-178672044
13 TTN-AS1, TTN NM_001267550.2(TTN):c.107889del (p.Lys35963fs) DEL Pathogenic
38439 rs281864930 GRCh37: 2:179391826-179391826
GRCh38: 2:178527099-178527099
14 TTN NM_001267550.2(TTN):c.5047C>T (p.Arg1683Ter) SNV Pathogenic
130673 rs587780490 GRCh37: 2:179641544-179641544
GRCh38: 2:178776817-178776817
15 TTN NM_001267550.2(TTN):c.6555_6556insTGTAAGGAAACAGACA (p.Lys2186fs) INSERT Pathogenic
130679 rs587780494 GRCh37: 2:179639882-179639883
GRCh38: 2:178775155-178775156
16 TTN-AS1, TTN NM_001267550.2(TTN):c.47961del (p.Gly15988fs) DEL Pathogenic
523430 rs1553707780 GRCh37: 2:179481655-179481655
GRCh38: 2:178616928-178616928
17 TTN-AS1, TTN NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter) SNV Pathogenic
180573 rs574660186 GRCh37: 2:179444429-179444429
GRCh38: 2:178579702-178579702
18 TTN-AS1, TTN NM_001267550.2(TTN):c.75138_75141del (p.Lys25046fs) MICROSAT Pathogenic
202467 rs794729340 GRCh37: 2:179435718-179435721
GRCh38: 2:178570991-178570994
19 TTN NM_001267550.2(TTN):c.14093-1G>A SNV Pathogenic
223347 rs869312099 GRCh37: 2:179603088-179603088
GRCh38: 2:178738361-178738361
20 TTN-AS1, TTN NM_001267550.2(TTN):c.103360del (p.Glu34454fs) DEL Pathogenic
374145 rs760768093 GRCh37: 2:179397982-179397982
GRCh38: 2:178533255-178533255
21 TTN-AS1, TTN NM_001267550.2(TTN):c.58368dup (p.Tyr19457fs) DUP Likely Pathogenic
931526 rs2050860445 GRCh37: 2:179458751-179458752
GRCh38: 2:178594024-178594025
22 TTN-AS1, TTN NM_001267550.2(TTN):c.79599_79621del (p.Glu26533fs) DEL Likely Pathogenic
932043 rs1312613088 GRCh37: 2:179431238-179431260
GRCh38: 2:178566511-178566533
23 TTN-AS1, TTN NM_001267550.2(TTN):c.104092_104103delinsGAAGCTTT (p.Arg34698fs) INDEL Likely Pathogenic
932091 rs1689596670 GRCh37: 2:179397239-179397250
GRCh38: 2:178532512-178532523
24 TTN-AS1, TTN NM_001267550.2(TTN):c.89221dup (p.Ile29741fs) DUP Likely Pathogenic
417932 rs1553543413 GRCh37: 2:179418510-179418511
GRCh38: 2:178553783-178553784
25 TTN NM_001267550.2(TTN):c.32471-1G>A SNV Likely Pathogenic
194146 rs371725574 GRCh37: 2:179549717-179549717
GRCh38: 2:178684990-178684990
26 TTN-AS1, TTN NM_001267550.2(TTN):c.98606G>C (p.Arg32869Pro) SNV Likely Pathogenic
130686 rs587780495 GRCh37: 2:179404186-179404186
GRCh38: 2:178539459-178539459
27 TTN-AS1, TTN NM_001267550.2(TTN):c.107840T>C (p.Ile35947Thr) SNV Likely Pathogenic
56386 rs281864928 GRCh37: 2:179391875-179391875
GRCh38: 2:178527148-178527148
28 TTN-AS1, TTN NM_001267550.2(TTN):c.105383C>T (p.Ala35128Val) SNV Conflicting Interpretations Of Pathogenicity
332687 rs758458467 GRCh37: 2:179395959-179395959
GRCh38: 2:178531232-178531232
29 TTN NM_001267550.2(TTN):c.31456A>T (p.Ile10486Phe) SNV Conflicting Interpretations Of Pathogenicity
332894 rs772882862 GRCh37: 2:179558706-179558706
GRCh38: 2:178693979-178693979
30 TTN NM_001267550.2(TTN):c.3241G>A (p.Ala1081Thr) SNV Conflicting Interpretations Of Pathogenicity
46931 rs55914517 GRCh37: 2:179647078-179647078
GRCh38: 2:178782351-178782351
31 TTN NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe) SNV Conflicting Interpretations Of Pathogenicity
46841 rs111671438 GRCh37: 2:179563606-179563606
GRCh38: 2:178698879-178698879
32 TTN NM_001267550.2(TTN):c.266C>G (p.Ala89Gly) SNV Conflicting Interpretations Of Pathogenicity
192099 rs200165636 GRCh37: 2:179666894-179666894
GRCh38: 2:178802167-178802167
33 TTN-AS1, TTN NM_001267550.2(TTN):c.100400T>G (p.Val33467Gly) SNV Conflicting Interpretations Of Pathogenicity
Uncertain Significance
165664 rs200166942 GRCh37: 2:179401074-179401074
GRCh38: 2:178536347-178536347
34 TTN-AS1, TTN NM_001267550.2(TTN):c.75378T>A (p.Gly25126=) SNV Uncertain Significance
332779 rs886055246 GRCh37: 2:179435481-179435481
GRCh38: 2:178570754-178570754
35 TTN-AS1, TTN NM_001267550.2(TTN):c.97247C>T (p.Ser32416Leu) SNV Uncertain Significance
203026 rs377412567 GRCh37: 2:179407236-179407236
GRCh38: 2:178542509-178542509
36 TTN-AS1, TTN NM_001267550.2(TTN):c.58037T>C (p.Val19346Ala) SNV Uncertain Significance
332827 rs754793079 GRCh37: 2:179459184-179459184
GRCh38: 2:178594457-178594457
37 TTN-AS1, TTN NM_001267550.2(TTN):c.64687C>G (p.Pro21563Ala) SNV Uncertain Significance
332810 rs72646860 GRCh37: 2:179449681-179449681
GRCh38: 2:178584954-178584954
38 TTN NM_001267550.2(TTN):c.43316G>A (p.Arg14439His) SNV Uncertain Significance
332871 rs764117439 GRCh37: 2:179497417-179497417
GRCh38: 2:178632690-178632690
39 TTN-AS1, TTN NM_001267550.2(TTN):c.99830G>A (p.Gly33277Glu) SNV Uncertain Significance
47620 rs397517781 GRCh37: 2:179402104-179402104
GRCh38: 2:178537377-178537377
40 TTN-AS1, TTN NM_001267550.2(TTN):c.84405T>C (p.Tyr28135=) SNV Uncertain Significance
332749 rs756176112 GRCh37: 2:179426454-179426454
GRCh38: 2:178561727-178561727
41 TTN NM_001267550.2(TTN):c.45054G>A (p.Ala15018=) SNV Uncertain Significance
332863 rs781392140 GRCh37: 2:179486595-179486595
GRCh38: 2:178621868-178621868
42 TTN-AS1, TTN NM_001267550.2(TTN):c.82220T>C (p.Ile27407Thr) SNV Uncertain Significance
47409 rs376037252 GRCh37: 2:179428639-179428639
GRCh38: 2:178563912-178563912
43 TTN-AS1, TTN NM_001267550.2(TTN):c.48671G>C (p.Trp16224Ser) SNV Uncertain Significance
332849 rs886055270 GRCh37: 2:179479663-179479663
GRCh38: 2:178614936-178614936
44 TTN-AS1, TTN NM_001267550.2(TTN):c.73563C>G (p.Gly24521=) SNV Uncertain Significance
332785 rs756809007 GRCh37: 2:179437296-179437296
GRCh38: 2:178572569-178572569
45 TTN-AS1, TTN NM_001267550.2(TTN):c.58371C>T (p.Tyr19457=) SNV Uncertain Significance
332826 rs749167827 GRCh37: 2:179458749-179458749
GRCh38: 2:178594022-178594022
46 TTN-AS1, TTN NM_001267550.2(TTN):c.92699A>G (p.Asn30900Ser) SNV Uncertain Significance
202990 rs186234393 GRCh37: 2:179413654-179413654
GRCh38: 2:178548927-178548927
47 TTN NM_001267550.2(TTN):c.583+4C>T SNV Uncertain Significance
332972 rs764670848 GRCh37: 2:179665118-179665118
GRCh38: 2:178800391-178800391
48 TTN NM_001267550.2(TTN):c.40408+8del DEL Uncertain Significance
179522 rs727504922 GRCh37: 2:179510639-179510639
GRCh38: 2:178645912-178645912
49 TTN-AS1, TTN NM_001267550.2(TTN):c.78654T>C (p.His26218=) SNV Uncertain Significance
332772 rs886055244 GRCh37: 2:179432205-179432205
GRCh38: 2:178567478-178567478
50 TTN-AS1, TTN NM_001267550.2(TTN):c.82133A>C (p.Lys27378Thr) SNV Uncertain Significance
332760 rs886055240 GRCh37: 2:179428726-179428726
GRCh38: 2:178563999-178563999

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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