TMD
MCID: TBL022
MIFTS: 30

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 73
Udd Myopathy 57 59 75
Tmd 57 59 75
Tardive Tibial Muscular Dystrophy 57 75
Tibial Muscular Dystrophy 59 73
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
Inheritance:
autosomal dominant

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


HPO:

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


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 600334
Orphanet 59 ORPHA609
UMLS via Orphanet 74 C1838244 C1450052
ICD10 via Orphanet 34 G71.0
MESH via Orphanet 45 C536815
MedGen 42 C1838244

Summaries for Tibial Muscular Dystrophy, Tardive

UniProtKB/Swiss-Prot : 75 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, bone and lung, and related phenotypes are rimmed vacuoles and steppage gait

Description 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 all 34)
# Related Disease Score Top Affiliating Genes
1 myeloproliferative syndrome, transient 11.9
2 tibial muscular dystrophy 11.6
3 ring dermoid of cornea 10.7
4 bruxism 10.4
5 joint disorders 10.3
6 down syndrome 10.2
7 anxiety 10.1
8 headache 10.1
9 alexithymia 10.0
10 whiplash 10.0
11 miyoshi muscular dystrophy 10.0
12 myopathy 10.0
13 hemifacial hyperplasia 9.9
14 platelet membrane fluidity 9.9
15 rheumatoid arthritis 9.9
16 trigeminal neuralgia 9.9
17 sjogren syndrome 9.9
18 lung cancer susceptibility 3 9.9
19 alacrima, achalasia, and mental retardation syndrome 9.9
20 tendinitis 9.9
21 muscle disorders 9.9
22 osteoarthritis 9.9
23 sinusitis 9.9
24 acoustic neuroma 9.9
25 hypermobility syndrome 9.9
26 neuroma 9.9
27 adenocarcinoma 9.9
28 myeloid leukemia 9.9
29 speech disorder 9.9
30 muscular dystrophy 9.9
31 hypermobile ehlers-danlos syndrome 9.9
32 depression 9.9
33 pain - chronic 9.9
34 primary sjögren syndrome 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

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

Human phenotypes related to Tibial Muscular Dystrophy, Tardive:

59 32 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 rimmed vacuoles 59 32 Frequent (79-30%) HP:0003805
2 steppage gait 59 32 Frequent (79-30%) HP:0003376
3 myopathy 59 Frequent (79-30%)
4 cardiomyopathy 59 Excluded (0%)
5 emg: myopathic abnormalities 59 Frequent (79-30%)
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%)
21 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

Anatomical Context for Tibial Muscular Dystrophy, Tardive

MalaCards organs/tissues related to Tibial Muscular Dystrophy, Tardive:

41
Skeletal Muscle, Bone, Lung, Myeloid, Bone Marrow

Publications for Tibial Muscular Dystrophy, Tardive

Articles related to Tibial Muscular Dystrophy, Tardive:

(show all 12)
# Title Authors Year
1
Gene expression profiling in tibial muscular dystrophy reveals unfolded protein response and altered autophagy. ( 24618559 )
2014
2
The first Italian family with tibial muscular dystrophy caused by a novel titin mutation. ( 19911250 )
2010
3
Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD). ( 18948003 )
2008
4
Tibial muscular dystrophy with late adult onset in a Spanish family. ( 16218196 )
2005
5
Muscle magnetic resonance imaging shows distinct diagnostic patterns in Welander and tibial muscular dystrophy. ( 15242415 )
2004
6
Tibial muscular dystrophy in a Belgian family. ( 12891679 )
2003
7
Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. ( 12145747 )
2002
8
The first European family with tibial muscular dystrophy outside the Finnish population. ( 9855539 )
1998
9
Assignment of the tibial muscular dystrophy locus to chromosome 2q31. ( 9497249 )
1998
10
Tibial muscular dystrophy--from clinical description to linkage on chromosome 2q31. ( 9673987 )
1998
11
Linkage analyses in tibial muscular dystrophy. ( 8666419 )
1996
12
Tibial muscular dystrophy. Late adult-onset distal myopathy in 66 Finnish patients. ( 8503797 )
1993

Variations for Tibial Muscular Dystrophy, Tardive

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

75
# 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 top 50) (show all 2051)
# 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) indel Pathogenic rs281864927 GRCh38 Chromosome 2, 178527198: 178527208
3 TTN NM_133378.4(TTN): c.100163T> C (p.Leu33388Pro) single nucleotide variant Pathogenic rs267607156 GRCh37 Chromosome 2, 179391848: 179391848
4 TTN NM_133378.4(TTN): c.100163T> C (p.Leu33388Pro) single nucleotide variant Pathogenic rs267607156 GRCh38 Chromosome 2, 178527121: 178527121
5 TTN NM_133378.4(TTN): c.100136T> A (p.Ile33379Asn) single nucleotide variant Pathogenic rs281864928 GRCh37 Chromosome 2, 179391875: 179391875
6 TTN NM_133378.4(TTN): c.100136T> A (p.Ile33379Asn) single nucleotide variant Pathogenic rs281864928 GRCh38 Chromosome 2, 178527148: 178527148
7 TTN NM_133378.4(TTN): c.100133A> C (p.His33378Pro) single nucleotide variant Pathogenic rs281864931 GRCh37 Chromosome 2, 179391878: 179391878
8 TTN NM_133378.4(TTN): c.100133A> C (p.His33378Pro) single nucleotide variant Pathogenic rs281864931 GRCh38 Chromosome 2, 178527151: 178527151
9 TTN NM_001256850.1(TTN): c.102966delA (p.Lys34322Asnfs) deletion Pathogenic rs281864930 GRCh37 Chromosome 2, 179391826: 179391826
10 TTN NM_001256850.1(TTN): c.102966delA (p.Lys34322Asnfs) deletion Pathogenic rs281864930 GRCh38 Chromosome 2, 178527099: 178527099
11 TTN NM_133378.4(TTN): c.100186C> T (p.Gln33396Ter) single nucleotide variant Pathogenic rs281864929 GRCh37 Chromosome 2, 179391825: 179391825
12 TTN NM_133378.4(TTN): c.100186C> T (p.Gln33396Ter) single nucleotide variant Pathogenic rs281864929 GRCh38 Chromosome 2, 178527098: 178527098
13 TTN NM_133378.4(TTN): c.100188_100193delAGATGG (p.Gln33396_Gly33398delinsHis) deletion Pathogenic rs281864933 GRCh37 Chromosome 2, 179391818: 179391823
14 TTN NM_133378.4(TTN): c.100188_100193delAGATGG (p.Gln33396_Gly33398delinsHis) deletion Pathogenic rs281864933 GRCh38 Chromosome 2, 178527091: 178527096
15 TTN NM_133378.4(TTN): c.99943delT (p.Ser33315Glnfs) deletion Pathogenic rs281864932 GRCh37 Chromosome 2, 179392206: 179392206
16 TTN NM_133378.4(TTN): c.99943delT (p.Ser33315Glnfs) deletion Pathogenic rs281864932 GRCh38 Chromosome 2, 178527479: 178527479
17 TTN TTN: c.1003G> A (p.Val335Met) single nucleotide variant Benign/Likely benign rs72647846 GRCh37 Chromosome 2, 179659891: 179659891
18 TTN TTN: c.1003G> A (p.Val335Met) single nucleotide variant Benign/Likely benign rs72647846 GRCh38 Chromosome 2, 178795164: 178795164
19 TTN NM_133378.4(TTN): c.10256G> A (p.Ser3419Asn) single nucleotide variant Benign/Likely benign rs2291310 GRCh37 Chromosome 2, 179623758: 179623758
20 TTN NM_133378.4(TTN): c.10256G> A (p.Ser3419Asn) single nucleotide variant Benign/Likely benign rs2291310 GRCh38 Chromosome 2, 178759031: 178759031
21 TTN NM_133378.4(TTN): c.10793G> A (p.Arg3598Lys) single nucleotide variant Benign/Likely benign rs2742347 GRCh37 Chromosome 2, 179600648: 179600648
22 TTN NM_133378.4(TTN): c.10793G> A (p.Arg3598Lys) single nucleotide variant Benign/Likely benign rs2742347 GRCh38 Chromosome 2, 178735921: 178735921
23 TTN NM_133378.4(TTN): c.1079G> C (p.Arg360Thr) single nucleotide variant Benign/Likely benign rs56128843 GRCh37 Chromosome 2, 179659815: 179659815
24 TTN NM_133378.4(TTN): c.1079G> C (p.Arg360Thr) single nucleotide variant Benign/Likely benign rs56128843 GRCh38 Chromosome 2, 178795088: 178795088
25 TTN NM_133378.4(TTN): c.10878C> T (p.Ser3626=) single nucleotide variant Benign/Likely benign rs2742348 GRCh37 Chromosome 2, 179600563: 179600563
26 TTN NM_133378.4(TTN): c.10878C> T (p.Ser3626=) single nucleotide variant Benign/Likely benign rs2742348 GRCh38 Chromosome 2, 178735836: 178735836
27 TTN NM_133378.4(TTN): c.11033G> A (p.Ser3678Asn) single nucleotide variant Benign/Likely benign rs184740744 GRCh37 Chromosome 2, 179600408: 179600408
28 TTN NM_133378.4(TTN): c.11033G> A (p.Ser3678Asn) single nucleotide variant Benign/Likely benign rs184740744 GRCh38 Chromosome 2, 178735681: 178735681
29 TTN NM_133378.4(TTN): c.11252C> G (p.Pro3751Arg) single nucleotide variant Benign/Likely benign rs72648927 GRCh37 Chromosome 2, 179599667: 179599667
30 TTN NM_133378.4(TTN): c.11252C> G (p.Pro3751Arg) single nucleotide variant Benign/Likely benign rs72648927 GRCh38 Chromosome 2, 178734940: 178734940
31 TTN NM_133378.4(TTN): c.11446G> A (p.Val3816Ile) single nucleotide variant Benign/Likely benign rs72648929 GRCh37 Chromosome 2, 179599473: 179599473
32 TTN NM_133378.4(TTN): c.11446G> A (p.Val3816Ile) single nucleotide variant Benign/Likely benign rs72648929 GRCh38 Chromosome 2, 178734746: 178734746
33 TTN NM_133378.4(TTN): c.11446G> C (p.Val3816Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs72648929 GRCh37 Chromosome 2, 179599473: 179599473
34 TTN NM_133378.4(TTN): c.11446G> C (p.Val3816Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs72648929 GRCh38 Chromosome 2, 178734746: 178734746
35 TTN NM_003319.4(TTN): c.13282+4410G> A single nucleotide variant Benign/Likely benign rs72648932 GRCh37 Chromosome 2, 179598399: 179598399
36 TTN NM_003319.4(TTN): c.13282+4410G> A single nucleotide variant Benign/Likely benign rs72648932 GRCh38 Chromosome 2, 178733672: 178733672
37 TTN TTN: c.15792T> C (p.Ile5264=) single nucleotide variant Benign/Likely benign rs12993099 GRCh37 Chromosome 2, 179598228: 179598228
38 TTN TTN: c.15792T> C (p.Ile5264=) single nucleotide variant Benign/Likely benign rs12993099 GRCh38 Chromosome 2, 178733501: 178733501
39 TTN NM_133378.4(TTN): c.12363C> T (p.Asn4121=) single nucleotide variant Benign/Likely benign rs72648935 GRCh37 Chromosome 2, 179597808: 179597808
40 TTN NM_133378.4(TTN): c.12363C> T (p.Asn4121=) single nucleotide variant Benign/Likely benign rs72648935 GRCh38 Chromosome 2, 178733081: 178733081
41 TTN NM_133378.4(TTN): c.12381T> C (p.Asn4127=) single nucleotide variant Conflicting interpretations of pathogenicity rs143845692 GRCh37 Chromosome 2, 179597790: 179597790
42 TTN NM_133378.4(TTN): c.12381T> C (p.Asn4127=) single nucleotide variant Conflicting interpretations of pathogenicity rs143845692 GRCh38 Chromosome 2, 178733063: 178733063
43 TTN NM_133378.4(TTN): c.12571G> A (p.Val4191Met) single nucleotide variant Conflicting interpretations of pathogenicity rs72648937 GRCh37 Chromosome 2, 179597600: 179597600
44 TTN NM_133378.4(TTN): c.12571G> A (p.Val4191Met) single nucleotide variant Conflicting interpretations of pathogenicity rs72648937 GRCh38 Chromosome 2, 178732873: 178732873
45 TTN NM_133378.4(TTN): c.12797A> G (p.Tyr4266Cys) single nucleotide variant Benign/Likely benign rs72648939 GRCh37 Chromosome 2, 179597259: 179597259
46 TTN NM_133378.4(TTN): c.12797A> G (p.Tyr4266Cys) single nucleotide variant Benign/Likely benign rs72648939 GRCh38 Chromosome 2, 178732532: 178732532
47 TTN NM_133378.4(TTN): c.13316A> G (p.Tyr4439Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs72648942 GRCh37 Chromosome 2, 179596554: 179596554
48 TTN NM_133378.4(TTN): c.13316A> G (p.Tyr4439Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs72648942 GRCh38 Chromosome 2, 178731827: 178731827
49 TTN NM_133378.4(TTN): c.13451-7C> T single nucleotide variant Conflicting interpretations of pathogenicity rs371785683 GRCh37 Chromosome 2, 179596317: 179596317
50 TTN NM_133378.4(TTN): c.13451-7C> T single nucleotide variant Conflicting interpretations of pathogenicity rs371785683 GRCh38 Chromosome 2, 178731590: 178731590

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....