TMD
MCID: TBL022
MIFTS: 35

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 72
Udd Myopathy 57 59 74
Tmd 57 59 74
Tardive Tibial Muscular Dystrophy 57 74
Tibial Muscular Dystrophy 59 72
Finnish Tibial Muscular Dystrophy 59
Distal Myopathy, Udd Type 59
Distal Titinopathy 59

Characteristics:

Orphanet epidemiological data:

59
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
Miscellaneous:
incomplete penetrance
adult onset (after age 35 years)
slow progression without marked disability
cardiomyopathy is not a feature

Inheritance:
autosomal dominant


HPO:

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


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 600334
MESH via Orphanet 45 C536815
ICD10 via Orphanet 34 G71.0
UMLS via Orphanet 73 C1450052 C1838244
Orphanet 59 ORPHA609
MedGen 42 C1838244
UMLS 72 C1450052 C1838244

Summaries for Tibial Muscular Dystrophy, Tardive

UniProtKB/Swiss-Prot : 74 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, 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 whiplash 10.4
7 osteoarthritis 10.4
8 down syndrome 10.4
9 myeloproliferative neoplasm 10.4
10 greig cephalopolysyndactyly syndrome 10.3
11 fibromyalgia 10.3
12 temporomandibular joint anomaly 10.3
13 myeloid leukemia 10.2
14 autosomal dominant distal myopathy 10.2
15 migraine with or without aura 1 10.2
16 leukemia, acute myeloid 10.2
17 sleep apnea 10.2
18 muscular dystrophy, limb-girdle, autosomal recessive 10 10.2
19 foot drop 10.2
20 myelodysplastic syndrome 10.1
21 exostosis 10.1
22 megakaryocytic leukemia 10.1
23 chromosomal triplication 10.1
24 autosomal recessive limb-girdle muscular dystrophy type 2j 10.1
25 branchiootic syndrome 1 10.0
26 anxiety 10.0
27 alexithymia 10.0
28 pain agnosia 10.0
29 arthropathy 10.0
30 myopathy 10.0
31 stomatitis 10.0
32 hypermobile ehlers-danlos syndrome 10.0
33 back pain 10.0
34 muscular dystrophy, limb-girdle, autosomal recessive 1 10.0
35 myotonic dystrophy 2 10.0
36 welander distal myopathy 10.0
37 muscular disease 10.0
38 limb-girdle muscular dystrophy 10.0
39 gne-related myopathy 10.0
40 welander distal myopathy, swedish type 10.0
41 skeletal muscle disease 10.0
42 autoimmune disease 9.9
43 hair whorl 9.9
44 myositis 9.9
45 trigeminal neuralgia 9.9
46 body mass index quantitative trait locus 11 9.9
47 body mass index quantitative trait locus 9 9.9
48 body mass index quantitative trait locus 8 9.9
49 body mass index quantitative trait locus 1 9.9
50 body mass index quantitative trait locus 4 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:

59 32 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 emg: myopathic abnormalities 59 32 Frequent (79-30%) HP:0003458
2 rimmed vacuoles 59 32 Frequent (79-30%) HP:0003805
3 steppage gait 59 32 Frequent (79-30%) HP:0003376
4 myopathy 59 Frequent (79-30%)
5 cardiomyopathy 59 Excluded (0%)
6 proximal muscle weakness in lower limbs 59 Occasional (29-5%)
7 respiratory failure 59 Excluded (0%)
8 clumsiness 59 Occasional (29-5%)
9 difficulty walking 59 Frequent (79-30%)
10 mildly elevated creatine phosphokinase 59 Frequent (79-30%)
11 muscular dystrophy 32 HP:0003560
12 increased variability in muscle fiber diameter 59 Frequent (79-30%)
13 foot dorsiflexor weakness 59 Frequent (79-30%)
14 increased muscle lipid content 59 Frequent (79-30%)
15 peroneal muscle atrophy 59 Frequent (79-30%)
16 centrally nucleated skeletal muscle fibers 59 Frequent (79-30%)
17 quadriceps muscle weakness 59 Occasional (29-5%)
18 distal upper limb muscle weakness 59 Very rare (<4-1%)
19 weakness of long finger extensor muscles 59 Excluded (0%)
20 ankle weakness 59 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

57
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:

41
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. 8 71
12891679 2003
2
Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. 8 71
12145747 2002
3
Interactions with M-band titin and calpain 3 link myospryn (CMYA5) to tibial and limb-girdle muscular dystrophies. 71
20634290 2010
4
Udd Distal Myopathy 71
20301498 2005
5
Autosomal dominant distal myopathy not linked to the known distal myopathy loci. 8
10220859 1999
6
The first European family with tibial muscular dystrophy outside the Finnish population. 8
9855539 1998
7
Assignment of the tibial muscular dystrophy locus to chromosome 2q31. 8
9497249 1998
8
Late onset foot-drop muscular dystrophy with rimmed vacuoles. 8
7807161 1994
9
Tibial muscular dystrophy. Late adult-onset distal myopathy in 66 Finnish patients. 8
8503797 1993
10
Vacuolar myopathy sparing the quadriceps. 8
8453459 1993
11
Nonvacuolar myopathy in a large family with both late adult onset distal myopathy and severe proximal muscular dystrophy. 8
1487757 1992
12
Limb-girdle type muscular dystrophy in a large family with distal myopathy: homozygous manifestation of a dominant gene? 8
1619633 1992
13
Muscular dystrophy with separate clinical phenotypes in a large family. 8
1745277 1991
14
Distal myopathy with rimmed vacuole formation. A follow-up study. 8
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. 8
3942856 1986
16
A new type of hereditary distal myopathy with characteristic sarcoplasmic bodies and intermediate (skeletin) filaments. 8
6251174 1980
17
Distal myopathy: electron microscopic and histochemical studies. 8
196233 1977
18
Histochemical and histopathological changes in skeletal muscle in late-onset hereditary distal myopathy (Welander). 8
126303 1975
19
Late onset hereditary distal myopathy. 8
4855680 1974
20
The first Italian family with tibial muscular dystrophy caused by a novel titin mutation. 38
19911250 2010
21
Distal myopathies. 38
16155432 2005
22
Distal myopathies. 38
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 Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TTN NM_001267550.2(TTN): c.82657G> T (p.Gly27553Ter) single nucleotide variant Pathogenic rs869178171 2:179428202-179428202 2:178563475-178563475
2 TTN NM_001267550.2(TTN): c.107837A> C (p.His35946Pro) single nucleotide variant Pathogenic rs281864931 2:179391878-179391878 2:178527151-178527151
3 TTN NM_001267550.2(TTN): c.107889del (p.Lys35963fs) deletion Pathogenic rs281864930 2:179391826-179391826 2:178527099-178527099
4 TTN NM_001267550.2(TTN): c.107890C> T (p.Gln35964Ter) single nucleotide variant Pathogenic rs281864929 2:179391825-179391825 2:178527098-178527098
5 TTN NM_001267550.2(TTN): c.107892_107897del (p.Gln35964_Gly35966delinsHis) deletion Pathogenic rs281864933 2:179391818-179391823 2:178527091-178527096
6 TTN NM_001267550.2(TTN): c.107647del (p.Ser35883fs) deletion Pathogenic rs281864932 2:179392206-179392206 2:178527479-178527479
7 TTN NM_001267550.2(TTN): c.107840T> A (p.Ile35947Asn) single nucleotide variant Pathogenic rs281864928 2:179391875-179391875 2:178527148-178527148
8 TTN NM_001267550.2(TTN): c.107867T> C (p.Leu35956Pro) single nucleotide variant Pathogenic rs267607156 2:179391848-179391848 2:178527121-178527121
9 TTN NM_001267550.2(TTN): c.107780_107790delinsTGAAAGAAAAA (p.Glu35927_Trp35930delinsValLysGluLys) indel Pathogenic rs281864927 2:179391925-179391935 2:178527198-178527208
10 TTN NM_133379.5(TTN): c.5047C> T (p.Arg1683Ter) single nucleotide variant Pathogenic rs587780490 2:179641544-179641544 2:178776817-178776817
11 TTN NM_001267550.2(TTN): c.75134_75137AGAA[1] (p.Lys25046fs) short repeat Pathogenic/Likely pathogenic rs794729340 2:179435718-179435721 2:178570991-178570994
12 TTN NM_001267550.2(TTN): c.67495C> T (p.Arg22499Ter) single nucleotide variant Pathogenic/Likely pathogenic rs574660186 2:179444429-179444429 2:178579702-178579702
13 TTN NM_001267550.2(TTN): c.98606G> C (p.Arg32869Pro) single nucleotide variant Likely pathogenic rs587780495 2:179404186-179404186 2:178539459-178539459
14 TTN NM_001267550.2(TTN): c.107840T> C (p.Ile35947Thr) single nucleotide variant Likely pathogenic rs281864928 2:179391875-179391875 2:178527148-178527148
15 TTN NM_001267550.2(TTN): c.89221dup (p.Ile29741fs) duplication Likely pathogenic rs1553543413 2:179418511-179418511 2:178553784-178553784
16 TTN NM_001267550.2(TTN): c.15178G> C (p.Val5060Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs72648929 2:179599473-179599473 2:178734746-178734746
17 TTN NM_001267550.2(TTN): c.17048A> G (p.Tyr5683Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs72648942 2:179596554-179596554 2:178731827-178731827
18 TTN NM_001267550.2(TTN): c.17183-7C> T single nucleotide variant Conflicting interpretations of pathogenicity rs371785683 2:179596317-179596317 2:178731590-178731590
19 TTN NM_133379.5(TTN): c.1365G> A (p.Thr455=) single nucleotide variant Conflicting interpretations of pathogenicity rs145211131 2:179659159-179659159 2:178794432-178794432
20 TTN NM_001267550.2(TTN): c.18745G> A (p.Asp6249Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs201263441 2:179594138-179594138 2:178729411-178729411
21 TTN NM_001267550.2(TTN): c.18776C> G (p.Thr6259Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs72648949 2:179594107-179594107 2:178729380-178729380
22 TTN NM_001267550.2(TTN): c.18816T> C (p.Ile6272=) single nucleotide variant Conflicting interpretations of pathogenicity rs146219199 2:179594067-179594067 2:178729340-178729340
23 TTN NM_001267550.2(TTN): c.18824A> G (p.Asn6275Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs184412722 2:179594059-179594059 2:178729332-178729332
24 TTN NM_001267550.2(TTN): c.18856G> A (p.Val6286Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs149131555 2:179594027-179594027 2:178729300-178729300
25 TTN NM_001267550.2(TTN): c.16113T> C (p.Asn5371=) single nucleotide variant Conflicting interpretations of pathogenicity rs143845692 2:179597790-179597790 2:178733063-178733063
26 TTN NM_001267550.2(TTN): c.16303G> A (p.Val5435Met) single nucleotide variant Conflicting interpretations of pathogenicity rs72648937 2:179597600-179597600 2:178732873-178732873
27 TTN NM_001267550.2(TTN): c.19356C> T (p.Ser6452=) single nucleotide variant Conflicting interpretations of pathogenicity rs369275615 2:179593297-179593297 2:178728570-178728570
28 TTN NM_001267550.2(TTN): c.19383T> C (p.Asn6461=) single nucleotide variant Conflicting interpretations of pathogenicity rs76771282 2:179593270-179593270 2:178728543-178728543
29 TTN NM_001267550.2(TTN): c.22634G> A (p.Arg7545Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs72648969 2:179586756-179586756 2:178722029-178722029
30 TTN NM_001267550.2(TTN): c.22968C> T (p.Asn7656=) single nucleotide variant Conflicting interpretations of pathogenicity rs201904848 2:179585778-179585778 2:178721051-178721051
31 TTN NM_133379.5(TTN): c.1938+10G> C single nucleotide variant Conflicting interpretations of pathogenicity rs190935632 2:179654695-179654695 2:178789968-178789968
32 TTN NM_001267550.2(TTN): c.24579A> G (p.Thr8193=) single nucleotide variant Conflicting interpretations of pathogenicity rs72648979 2:179583254-179583254 2:178718527-178718527
33 TTN NM_001267550.2(TTN): c.24471C> T (p.Gly8157=) single nucleotide variant Conflicting interpretations of pathogenicity rs113391261 2:179583456-179583456 2:178718729-178718729
34 TTN NM_001267550.2(TTN): c.25490G> A (p.Arg8497His) single nucleotide variant Conflicting interpretations of pathogenicity rs149855485 2:179581971-179581971 2:178717244-178717244
35 TTN NM_001267550.2(TTN): c.25704G> A (p.Arg8568=) single nucleotide variant Conflicting interpretations of pathogenicity rs150544093 2:179580437-179580437 2:178715710-178715710
36 TTN NM_001267550.2(TTN): c.25758C> T (p.Asp8586=) single nucleotide variant Conflicting interpretations of pathogenicity rs372802604 2:179580383-179580383 2:178715656-178715656
37 TTN NM_001267550.2(TTN): c.25936C> T (p.Arg8646Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs72648987 2:179579977-179579977 2:178715250-178715250
38 TTN NM_001267550.2(TTN): c.25978G> A (p.Val8660Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs141856116 2:179579935-179579935 2:178715208-178715208
39 TTN NM_001267550.2(TTN): c.26682G> A (p.Pro8894=) single nucleotide variant Conflicting interpretations of pathogenicity rs142812510 2:179578703-179578703 2:178713976-178713976
40 TTN NM_001267550.2(TTN): c.27498G> A (p.Ser9166=) single nucleotide variant Conflicting interpretations of pathogenicity rs372528823 2:179577151-179577151 2:178712424-178712424
41 TTN NM_001267550.2(TTN): c.28070C> T (p.Thr9357Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs144930507 2:179575893-179575893 2:178711166-178711166
42 TTN NM_001267550.2(TTN): c.29963-13A> G single nucleotide variant Conflicting interpretations of pathogenicity rs72650008 2:179569147-179569147 2:178704420-178704420
43 TTN NM_001267550.2(TTN): c.30224-8T> G single nucleotide variant Conflicting interpretations of pathogenicity rs72650010 2:179567398-179567398 2:178702671-178702671
44 TTN NM_001267550.2(TTN): c.30384T> C (p.Asp10128=) single nucleotide variant Conflicting interpretations of pathogenicity rs188584219 2:179567230-179567230 2:178702503-178702503
45 TTN NM_001267550.2(TTN): c.30485C> T (p.Thr10162Met) single nucleotide variant Conflicting interpretations of pathogenicity rs200593368 2:179566921-179566921 2:178702194-178702194
46 TTN NM_001267550.2(TTN): c.30718G> T (p.Val10240Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs111671438 2:179563606-179563606 2:178698879-178698879
47 TTN NM_001267550.2(TTN): c.31806C> T (p.Pro10602=) single nucleotide variant Conflicting interpretations of pathogenicity rs370080995 2:179554580-179554580 2:178689853-178689853
48 TTN NM_001267550.2(TTN): c.32350C> G (p.Leu10784Val) single nucleotide variant Conflicting interpretations of pathogenicity rs72650029 2:179550287-179550287 2:178685560-178685560
49 TTN NM_001267550.2(TTN): c.26466C> G (p.Ala8822=) single nucleotide variant Conflicting interpretations of pathogenicity rs140003804 2:179579035-179579035 2:178714308-178714308
50 TTN NM_133379.5(TTN): c.2270C> T (p.Pro757Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs116307796 2:179650675-179650675 2:178785948-178785948

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

74
# 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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7 CNVD
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36 IUPHAR
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73 UMLS via Orphanet
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