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 56 13 71
Udd Myopathy 56 58 73
Tmd 56 58 73
Tardive Tibial Muscular Dystrophy 56 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:

56
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 56 600334
MESH via Orphanet 44 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 myeloproliferative syndrome, transient and tibial muscular dystrophy. An important gene associated with Tibial Muscular Dystrophy, Tardive is TTN (Titin). Affiliated tissues include skeletal muscle, myeloid and lung, 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 102)
# Related Disease Score Top Affiliating Genes
1 myeloproliferative syndrome, transient 12.1
2 tibial muscular dystrophy 11.8
3 chronic pain 10.7
4 bruxism 10.7
5 headache 10.6
6 osteoarthritis 10.4
7 whiplash 10.4
8 down syndrome 10.4
9 myeloproliferative neoplasm 10.3
10 greig cephalopolysyndactyly syndrome 10.3
11 fibromyalgia 10.3
12 temporomandibular joint anomaly 10.3
13 myeloid leukemia 10.2
14 foot drop 10.2
15 autosomal dominant distal myopathy 10.2
16 migraine with or without aura 1 10.2
17 leukemia, acute myeloid 10.2
18 sleep apnea 10.2
19 muscular dystrophy, limb-girdle, autosomal recessive 10 10.2
20 limb-girdle muscular dystrophy 10.2
21 myelodysplastic syndrome 10.1
22 exostosis 10.1
23 megakaryocytic leukemia 10.1
24 chromosomal triplication 10.1
25 autosomal recessive limb-girdle muscular dystrophy type 2j 10.1
26 branchiootic syndrome 1 10.0
27 anxiety 10.0
28 alexithymia 10.0
29 pain agnosia 10.0
30 arthropathy 10.0
31 myopathy 10.0
32 sleep disorder 10.0
33 chronic fatigue syndrome 10.0
34 stomatitis 10.0
35 hypermobile ehlers-danlos syndrome 10.0
36 back pain 10.0
37 muscular dystrophy, limb-girdle, autosomal recessive 1 10.0
38 myotonic dystrophy 2 10.0
39 welander distal myopathy 10.0
40 muscular disease 10.0
41 gne-related myopathy 10.0
42 skeletal muscle disease 10.0
43 autoimmune disease 9.9
44 hair whorl 9.9
45 myositis 9.9
46 trigeminal neuralgia 9.9
47 hydrops fetalis, nonimmune 9.9
48 body mass index quantitative trait locus 11 9.9
49 body mass index quantitative trait locus 9 9.9
50 body mass index quantitative trait locus 8 9.9

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 cardiomyopathy 58 Excluded (0%)
6 proximal muscle weakness in lower limbs 58 Occasional (29-5%)
7 respiratory failure 58 Excluded (0%)
8 clumsiness 58 Occasional (29-5%)
9 difficulty walking 58 Frequent (79-30%)
10 mildly elevated creatine phosphokinase 58 Frequent (79-30%)
11 muscular dystrophy 31 HP:0003560
12 increased variability in muscle fiber diameter 58 Frequent (79-30%)
13 foot dorsiflexor weakness 58 Frequent (79-30%)
14 increased muscle lipid content 58 Frequent (79-30%)
15 peroneal muscle atrophy 58 Frequent (79-30%)
16 centrally nucleated skeletal muscle fibers 58 Frequent (79-30%)
17 quadriceps muscle weakness 58 Occasional (29-5%)
18 distal upper limb muscle weakness 58 Very rare (<4-1%)
19 weakness of long finger extensor muscles 58 Excluded (0%)
20 ankle weakness 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

56
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:

40
Skeletal Muscle, Myeloid, Lung, T Cells, B Cells, Pituitary

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. 56 6
12891679 2003
2
Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. 56 6
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
Udd Distal Myopathy – Tibial Muscular Dystrophy 6
20301498 2005
5
Autosomal dominant distal myopathy not linked to the known distal myopathy loci. 56
10220859 1999
6
The first European family with tibial muscular dystrophy outside the Finnish population. 56
9855539 1998
7
Assignment of the tibial muscular dystrophy locus to chromosome 2q31. 56
9497249 1998
8
Late onset foot-drop muscular dystrophy with rimmed vacuoles. 56
7807161 1994
9
Tibial muscular dystrophy. Late adult-onset distal myopathy in 66 Finnish patients. 56
8503797 1993
10
Vacuolar myopathy sparing the quadriceps. 56
8453459 1993
11
Nonvacuolar myopathy in a large family with both late adult onset distal myopathy and severe proximal muscular dystrophy. 56
1487757 1992
12
Limb-girdle type muscular dystrophy in a large family with distal myopathy: homozygous manifestation of a dominant gene? 56
1619633 1992
13
Muscular dystrophy with separate clinical phenotypes in a large family. 56
1745277 1991
14
Distal myopathy with rimmed vacuole formation. A follow-up study. 56
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. 56
3942856 1986
16
A new type of hereditary distal myopathy with characteristic sarcoplasmic bodies and intermediate (skeletin) filaments. 56
6251174 1980
17
Distal myopathy: electron microscopic and histochemical studies. 56
196233 1977
18
Histochemical and histopathological changes in skeletal muscle in late-onset hereditary distal myopathy (Welander). 56
126303 1975
19
Late onset hereditary distal myopathy. 56
4855680 1974
20
The first Italian family with tibial muscular dystrophy caused by a novel titin mutation. 61
19911250 2010
21
Distal myopathies. 61
16155432 2005
22
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 1106) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TTN NM_003319.4(TTN):c.80585_80595delinsTGAAAGAAAAA (p.Glu26862_Trp26865delinsValLysGluLys)indel Pathogenic 12652 rs281864927 2:179391925-179391935 2:178527198-178527208
2 TTN NM_001267550.2(TTN):c.107867T>C (p.Leu35956Pro)SNV Pathogenic 12653 rs267607156 2:179391848-179391848 2:178527121-178527121
3 TTN NM_001267550.2(TTN):c.107840T>A (p.Ile35947Asn)SNV Pathogenic 12654 rs281864928 2:179391875-179391875 2:178527148-178527148
4 TTN NM_001267550.2(TTN):c.107837A>C (p.His35946Pro)SNV Pathogenic 38438 rs281864931 2:179391878-179391878 2:178527151-178527151
5 TTN NM_001267550.2(TTN):c.107889del (p.Lys35963fs)deletion Pathogenic 38439 rs281864930 2:179391826-179391826 2:178527099-178527099
6 TTN NM_001267550.2(TTN):c.107890C>T (p.Gln35964Ter)SNV Pathogenic 38440 rs281864929 2:179391825-179391825 2:178527098-178527098
7 TTN NM_001267550.2(TTN):c.107892_107897del (p.Gln35964_Gly35966delinsHis)deletion Pathogenic 38441 rs281864933 2:179391818-179391823 2:178527091-178527096
8 TTN NM_001267550.2(TTN):c.107647del (p.Ser35883fs)deletion Pathogenic 38442 rs281864932 2:179392206-179392206 2:178527479-178527479
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.82657G>T (p.Gly27553Ter)SNV Pathogenic 488810 rs869178171 2:179428202-179428202 2:178563475-178563475
11 TTN NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter)SNV Pathogenic/Likely pathogenic 180573 rs574660186 2:179444429-179444429 2:178579702-178579702
12 TTN NM_001267550.2(TTN):c.75134_75137AGAA[1] (p.Lys25046fs)short repeat Pathogenic/Likely pathogenic 202467 rs794729340 2:179435718-179435721 2:178570991-178570994
13 TTN NM_001267550.2(TTN):c.89221dup (p.Ile29741fs)duplication Likely pathogenic 417932 rs1553543413 2:179418510-179418511 2:178553783-178553784
14 TTN NM_001267550.2(TTN):c.98606G>C (p.Arg32869Pro)SNV Likely pathogenic 130686 rs587780495 2:179404186-179404186 2:178539459-178539459
15 TTN NM_001267550.2(TTN):c.107840T>C (p.Ile35947Thr)SNV Likely pathogenic 56386 rs281864928 2:179391875-179391875 2:178527148-178527148
16 TTN NM_001267550.2(TTN):c.26762-39TTTGT[11]short repeat Conflicting interpretations of pathogenicity 96274 rs71393436 2:179578108-179578109 2:178713381-178713382
17 TTN NM_001267550.2(TTN):c.27702T>C (p.Ile9234=)SNV Conflicting interpretations of pathogenicity 96275 rs143368674 2:179576855-179576855 2:178712128-178712128
18 TTN NM_001267550.2(TTN):c.47077G>A (p.Val15693Ile)SNV Conflicting interpretations of pathogenicity 96291 rs201717871 2:179483108-179483108 2:178618381-178618381
19 TTN NM_001267550.2(TTN):c.64762G>A (p.Gly21588Arg)SNV Conflicting interpretations of pathogenicity 96296 rs181717727 2:179449606-179449606 2:178584879-178584879
20 TTN NM_001267550.2(TTN):c.106578T>A (p.Ser35526=)SNV Conflicting interpretations of pathogenicity 47708 rs55838839 2:179393900-179393900 2:178529173-178529173
21 TTN NM_001267550.2(TTN):c.106580A>T (p.Glu35527Val)SNV Conflicting interpretations of pathogenicity 47709 rs55725279 2:179393898-179393898 2:178529171-178529171
22 TTN NM_001267550.2(TTN):c.106619T>C (p.Ile35540Thr)SNV Conflicting interpretations of pathogenicity 47710 rs55880440 2:179393859-179393859 2:178529132-178529132
23 TTN NM_001267550.2(TTN):c.106638G>A (p.Arg35546=)SNV Conflicting interpretations of pathogenicity 47711 rs56324602 2:179393840-179393840 2:178529113-178529113
24 TTN NM_001267550.2(TTN):c.106920G>A (p.Leu35640=)SNV Conflicting interpretations of pathogenicity 47716 rs183923129 2:179393558-179393558 2:178528831-178528831
25 TTN NM_001267550.2(TTN):c.11311+1799G>CSNV Conflicting interpretations of pathogenicity 47732 rs147314430 2:179616052-179616052 2:178751325-178751325
26 TTN NM_001267550.2(TTN):c.11311+4672C>TSNV Conflicting interpretations of pathogenicity 47765 rs149748934 2:179613179-179613179 2:178748452-178748452
27 TTN NM_001267550.2(TTN):c.11312-4478C>TSNV Conflicting interpretations of pathogenicity 47792 rs151253841 2:179611126-179611126 2:178746399-178746399
28 TTN NM_001267550.2(TTN):c.103974C>T (p.Ile34658=)SNV Conflicting interpretations of pathogenicity 47665 rs199714102 2:179397368-179397368 2:178532641-178532641
29 TTN NM_001267550.2(TTN):c.104365G>A (p.Glu34789Lys)SNV Conflicting interpretations of pathogenicity 47669 rs190565627 2:179396977-179396977 2:178532250-178532250
30 TTN NM_001267550.2(TTN):c.105127C>T (p.Arg35043Cys)SNV Conflicting interpretations of pathogenicity 47683 rs200378865 2:179396215-179396215 2:178531488-178531488
31 TTN NM_001267550.2(TTN):c.105183G>A (p.Ala35061=)SNV Conflicting interpretations of pathogenicity 47685 rs371075036 2:179396159-179396159 2:178531432-178531432
32 TTN NM_001267550.2(TTN):c.105228G>A (p.Ser35076=)SNV Conflicting interpretations of pathogenicity 47687 rs55938627 2:179396114-179396114 2:178531387-178531387
33 TTN NM_001267550.2(TTN):c.105468G>A (p.Pro35156=)SNV Conflicting interpretations of pathogenicity 47691 rs55806007 2:179395874-179395874 2:178531147-178531147
34 TTN NM_001267550.2(TTN):c.6555_6556insTGTAAGGAAACAGACA (p.Lys2186fs)insertion Conflicting interpretations of pathogenicity 130679 rs587780494 2:179639882-179639883 2:178775155-178775156
35 TTN NM_001267550.2(TTN):c.77716G>A (p.Glu25906Lys)SNV Conflicting interpretations of pathogenicity 130680 rs56341835 2:179433143-179433143 2:178568416-178568416
36 TTN NM_001267550.2(TTN):c.9338G>A (p.Arg3113His)SNV Conflicting interpretations of pathogenicity 130688 rs141258018 2:179632619-179632619 2:178767892-178767892
37 TTN NM_001267550.2(TTN):c.83080C>T (p.Arg27694Cys)SNV Conflicting interpretations of pathogenicity 238851 rs192360370 2:179427779-179427779 2:178563052-178563052
38 TTN NM_001267550.2(TTN):c.51065C>T (p.Ala17022Val)SNV Conflicting interpretations of pathogenicity 238795 rs372419267 2:179475791-179475791 2:178611064-178611064
39 TTN NM_001267550.2(TTN):c.18549C>T (p.Asp6183=)SNV Conflicting interpretations of pathogenicity 238713 rs200549353 2:179594431-179594431 2:178729704-178729704
40 TTN NM_001267550.2(TTN):c.10128G>A (p.Ser3376=)SNV Conflicting interpretations of pathogenicity 238692 rs755262343 2:179623886-179623886 2:178759159-178759159
41 TTN NM_133379.5(TTN):c.10115-4G>ASNV Conflicting interpretations of pathogenicity 238691 rs367648529 2:179623903-179623903 2:178759176-178759176
42 TTN NM_001267550.2(TTN):c.66430G>A (p.Ala22144Thr)SNV Conflicting interpretations of pathogenicity 238827 rs183276016 2:179446666-179446666 2:178581939-178581939
43 TTN NM_001267550.2(TTN):c.70907G>A (p.Arg23636His)SNV Conflicting interpretations of pathogenicity 96301 rs56071233 2:179439952-179439952 2:178575225-178575225
44 TTN NM_133378.4(TTN):c.80003-4G>TSNV Conflicting interpretations of pathogenicity 96312 rs201770959 2:179422286-179422286 2:178557559-178557559
45 TTN NM_001267550.2(TTN):c.89386G>A (p.Val29796Met)SNV Conflicting interpretations of pathogenicity 96314 rs72648237 2:179418346-179418346 2:178553619-178553619
46 TTN NM_001267550.2(TTN):c.97386C>T (p.Thr32462=)SNV Conflicting interpretations of pathogenicity 96320 rs376810671 2:179407097-179407097 2:178542370-178542370
47 TTN NM_001267550.2(TTN):c.103417G>A (p.Val34473Ile)SNV Conflicting interpretations of pathogenicity 96327 rs188917199 2:179397925-179397925 2:178533198-178533198
48 TTN NM_001267550.2(TTN):c.15796C>T (p.Arg5266Ter)SNV Conflicting interpretations of pathogenicity 130662 rs372277017 2:179598224-179598224 2:178733497-178733497
49 TTN NM_001267550.2(TTN):c.59165T>C (p.Val19722Ala)SNV Conflicting interpretations of pathogenicity 137798 rs116592778 2:179457681-179457681 2:178592954-178592954
50 TTN NM_133378.4(TTN):c.51640+3G>ASNV Conflicting interpretations of pathogenicity 137799 rs142095604 2:179457499-179457499 2:178592772-178592772

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

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