TMD
MCID: TBL009
MIFTS: 50

Tibial Muscular Dystrophy (TMD)

Categories: Genetic diseases, Muscle diseases

Aliases & Classifications for Tibial Muscular Dystrophy

MalaCards integrated aliases for Tibial Muscular Dystrophy:

Name: Tibial Muscular Dystrophy 12 25 36 29 6 15 71
Tardive Tibial Muscular Dystrophy 12 25
Udd Myopathy 12 25
Tmd 12 25
Tibial Muscular Dystrophy, Tardive 71
Finnish Tibial Muscular Dystrophy 12
Udd-Markesbery Muscular Dystrophy 25
Dystrophy, Muscular, Tibial 39
Udd Type Distal Myopathy 12
Udd Distal Myopathy 25
Distal Titinopathy 12
Distal Myopathies 43

Classifications:



External Ids:

Disease Ontology 12 DOID:0111078
KEGG 36 H01976
MeSH 43 D049310
UMLS 71 C1450052 C1838244

Summaries for Tibial Muscular Dystrophy

Genetics Home Reference : 25 Tibial muscular dystrophy is a condition that affects the muscles at the front of the lower leg. The signs and symptoms of this condition typically appear after age 35. The first sign is usually weakness and wasting (atrophy) of a muscle in the lower leg called the tibialis anterior. This muscle helps control up-and-down movement of the foot. Weakness in the tibialis anterior muscle makes it difficult or impossible to walk on the heels, but it usually does not interfere significantly with regular walking. Muscle weakness worsens very slowly in people with tibial muscular dystrophy. Ten to 20 years after the onset of symptoms, weakness may develop in muscles that help extend the toes (long-toe extensors). Weakness in these muscles makes it difficult to lift the toes while walking, a condition known as foot drop. Later in life, about one third of people with tibial muscular dystrophy experience mild to moderate difficulty with walking because of weakness in other leg muscles. However, most affected individuals remain able to walk throughout their lives. A small percentage of people with tibial muscular dystrophy have a somewhat different pattern of signs and symptoms than those described above. Starting in childhood, these individuals may have generalized muscle weakness, weakness and atrophy of the thigh muscles (quadriceps) or other muscles in the legs, and weakness affecting muscles in the arms.

MalaCards based summary : Tibial Muscular Dystrophy, also known as tardive tibial muscular dystrophy, is related to dysferlinopathy and myopathy, myofibrillar, 4. An important gene associated with Tibial Muscular Dystrophy is TTN (Titin), and among its related pathways/superpathways are Cardiac conduction and Striated Muscle Contraction. The drugs Glucosamine and Azacitidine have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, and related phenotypes are emg: myopathic abnormalities and rimmed vacuoles

Disease Ontology : 12 A distal muscular dystrophy characterized by autosomal dominant inheritance of late-onset muscular dystrophy beginning in the anterior comparment of the legs that has material basis in heterozygous mutation in the TTN gene on chromosome 2q31.

KEGG : 36 Tibial muscular dystrophy (TMD) is a rare autosomal dominant distal myopathy with late onset. The clinical phenotype is relatively mild. Muscle weakness manifests in the patient's early 40s and remains confined to the tibial anterior muscles. TMD is caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin.

Related Diseases for Tibial Muscular Dystrophy

Diseases related to Tibial Muscular Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 272)
# Related Disease Score Top Affiliating Genes
1 dysferlinopathy 33.0 DYSF CAPN3
2 myopathy, myofibrillar, 4 31.9 TCAP NEB MYOT LDB3
3 myopathy, myofibrillar, 2 31.7 MYOT LDB3 DMD
4 foot drop 31.1 TTN NEB
5 myopathy, myofibrillar, 9, with early respiratory failure 30.8 TTN-AS1 TTN TCAP OBSCN NEB MYOT
6 autosomal dominant distal myopathy 30.7 MYOT DMD
7 hyaline body myopathy 30.6 TTN NEB MYOT
8 atrial standstill 1 30.3 TTN TCAP MYOT DMD
9 central core disease of muscle 30.2 NEB MYOT
10 reducing body myopathy 30.1 TTN NEB DMD
11 muscular dystrophy, limb-girdle, autosomal dominant 1 30.1 TCAP MYOT DYSF
12 scapuloperoneal myopathy 30.1 MYOT MYOM3
13 respiratory failure 30.0 TTN-AS1 TTN LOC101927055 DMD
14 limb-girdle muscular dystrophy 29.8 TTN TCAP MYOT DYSF DMD CAPN3
15 creatine phosphokinase, elevated serum 29.8 TCAP DMD CAPN3
16 autosomal recessive limb-girdle muscular dystrophy type 2j 29.8 TTN TCAP OBSCN MYOT DYSF CMYA5
17 restrictive cardiomyopathy 29.7 TTN-AS1 TTN DMD
18 miyoshi muscular dystrophy 29.6 TTN TCAP NEB MYOT GNE DYSF
19 muscular dystrophy, becker type 29.6 MYOT DYSF DMD CAPN3
20 myopathy, congenital 29.6 TTN NEB DYSF DMD
21 muscular dystrophy, limb-girdle, autosomal recessive 2 29.5 TTN TCAP MYOT DYSF DMD CAPN3
22 facioscapulohumeral muscular dystrophy 1 29.5 MYOT DYSF DMD CAPN3
23 myopathy, myofibrillar, 1 29.5 TTN NEB MYOT LDB3 DMD CAPN3
24 rigid spine muscular dystrophy 1 29.4 TTN MYOT DYSF DMD CAPN3
25 centronuclear myopathy 29.4 TTN-AS1 TTN NEB DYSF DMD
26 hypertrophic cardiomyopathy 29.2 TTN TCAP OBSCN MYOM1 LDB3 DMD
27 myopathy 29.2 TTN TCAP NEB MYOT LDB3 GNE
28 arrhythmogenic right ventricular cardiomyopathy 29.1 TTN MYOM1 LDB3 DMD
29 reducing body myopathy 1a 29.1 TTN TCAP NEB MYOT MYOM3 MYOM1
30 myositis 29.1 TTN NEB GNE DYSF DMD CAPN3
31 muscular disease 29.0 TTN NEB MYOT GNE DYSF DMD
32 myopathy, myofibrillar, 3 29.0 TTN TCAP MYOT LDB3 DYSF DMD
33 muscular dystrophy, congenital, lmna-related 28.9 TTN MYOT LDB3 DYSF DMD CAPN3
34 myofibrillar myopathy 28.7 TTN TCAP NEB MYOT LDB3 GNE
35 muscular dystrophy 28.7 TTN TCAP OBSCN NEB MYOT LDB3
36 neuromuscular disease 28.3 TTN TCAP NEB MYOT LDB3 GNE
37 dilated cardiomyopathy 28.3 TTN TCAP OBSCN MYOT MYOM3 MYOM1
38 tibial muscular dystrophy, tardive 12.9
39 distal myopathy with vocal cord weakness 12.7
40 udd distal myopathy - tibial muscular dystrophy 12.5
41 cav3-related distal myopathy 12.5
42 myopathy, distal, 1 12.5
43 autosomal recessive distal myopathy 12.3
44 nonaka myopathy 12.3
45 inclusion body myositis 12.2
46 late-onset distal myopathy, markesbery-griggs type 12.2
47 adult-onset distal myopathy due to vcp mutation 12.2
48 klhl9-related early-onset distal myopathy 12.2
49 myopathy, distal, tateyama type 12.2
50 myopathy, distal, 4 12.2

Graphical network of the top 20 diseases related to Tibial Muscular Dystrophy:



Diseases related to Tibial Muscular Dystrophy

Symptoms & Phenotypes for Tibial Muscular Dystrophy

Human phenotypes related to Tibial Muscular Dystrophy:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 emg: myopathic abnormalities 31 frequent (33%) HP:0003458
2 rimmed vacuoles 31 frequent (33%) HP:0003805
3 steppage gait 31 frequent (33%) HP:0003376
4 increased muscle lipid content 31 frequent (33%) HP:0009058
5 difficulty walking 31 frequent (33%) HP:0002355
6 increased variability in muscle fiber diameter 31 frequent (33%) HP:0003557
7 centrally nucleated skeletal muscle fibers 31 frequent (33%) HP:0003687
8 foot dorsiflexor weakness 31 frequent (33%) HP:0009027
9 peroneal muscle atrophy 31 frequent (33%) HP:0009049
10 ankle weakness 31 frequent (33%) HP:0031374
11 mildly elevated creatine kinase 31 frequent (33%) HP:0008180
12 clumsiness 31 occasional (7.5%) HP:0002312
13 quadriceps muscle weakness 31 occasional (7.5%) HP:0003731
14 distal upper limb muscle weakness 31 very rare (1%) HP:0008959

MGI Mouse Phenotypes related to Tibial Muscular Dystrophy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.36 ANKRD2 ANKRD23 CAPN3 DMD DYSF GNE

Drugs & Therapeutics for Tibial Muscular Dystrophy

Drugs for Tibial Muscular Dystrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glucosamine Approved, Investigational Phase 3 3416-24-8 439213
2
Azacitidine Approved, Investigational Phase 2 320-67-2 9444
3 Antibodies Phase 1
4 Immunoglobulins, Intravenous Phase 1
5 Rho(D) Immune Globulin Phase 1
6 gamma-Globulins Phase 1
7 Immunologic Factors Phase 1
8 Immunoglobulins Phase 1

Interventional clinical trials:

(show all 16)
# Name Status NCT ID Phase Drugs
1 A Phase 3 Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of Sialic Acid Extended-Release Tablets in Patients With GNE Myopathy (GNEM) or Hereditary Inclusion Body Myopathy (HIBM) Completed NCT02377921 Phase 3 aceneuramic acid extended-release (Ace-ER);Placebo
2 Phase 3B Open-Label Extension Study to Evaluate the Safety and Efficacy of Aceneuramic Acid Extended-Release (Ace-ER) Tablets in Patients With GNE Myopathy (GNEM) or Hereditary Inclusion Body Myopathy (HIBM) Terminated NCT02736188 Phase 3 Aceneuramic Acid Extended-Release Tablets
3 An Open-label Phase 2 Extension Study to Evaluate the Long Term Safety and Efficacy of Sialic Acid-Extended Release (SA-ER) Tablets and Sialic Acid-Immediate Release (SA-IR) Capsules in Patients With GNE Myopathy or Hereditary Inclusion Body Myopathy Completed NCT01830972 Phase 2 SA-ER 500 mg;SA-IR 500 mg
4 A Phase 2 Randomized, Double-Blind, Placebo-Controlled, Parallel Group Study to Evaluate the Dose and Pharmacodynamic Efficacy of Sialic Acid-Extended Release (SA-ER) Tablets in Patients With GNE Myopathy or Hereditary Inclusion Body Myopathy Completed NCT01517880 Phase 2 Sialic Acid Extended Release (SA-ER);Placebo
5 An Open-Label Phase 2 Study of ManNAc in Subjects With GNE Myopathy Completed NCT02346461 Phase 2 ManNAc;ManNAc
6 A Randomized, Double-Blind, Placebo-Controlled, Multi-Center Study to Evaluate the Efficacy of ManNAc in Subjects With GNE Myopathy Not yet recruiting NCT04231266 Phase 2 ManNAc
7 A Phase 2 Open-label Study to Evaluate the Safety of Aceneuramic Acid Extended Release (Ace-ER) Tablets in GNE Myopathy (GNEM) (Also Known as Hereditary Inclusion Body Myopathy (HIBM)) Patients With Severe Ambulatory Impairment Terminated NCT02731690 Phase 2 Aceneuramic Acid Extended-Release
8 Phase 1 Study to Determine the Efficacy of Using Far Infrared Radiation to Manage or Treat Muscular Dystrophies. Unknown status NCT00674843 Phase 1
9 Pharmacokinetic Study on N-acetylneuraminic Acid in Patients With Distal Myopathy With Rimmed Vacuoles (DMRV) - Hereditary Inclusion Body Myopathy (hIBM) Completed NCT01236898 Phase 1 NPC-09
10 A Phase 1 Study to Evaluate the Safety and Pharmacokinetics of Single and Repeat Doses of Sialic Acid Extended Release (SA-ER) Tables in Patients With Hereditary Inclusion Body Myopathy (HIBM) Completed NCT01359319 Phase 1 Sialic Acid Extended Release (SA-ER) Tablets;Sialic Acid Extended Release (SA-ER) Tables;Sialic Acid Extended Release (SA-ER) Tablets;Sialic Acid Extended Release (SA-ER) Tablets;Sialic Acid Extended Release (SA-ER) Tablets
11 A Phase 1 Randomized, Placebo-Controlled, Double-Blind, Escalating Single-Dose Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of ManNAc in Subjects With GNE Myopathy or Hereditary Inclusion Body Myopathy (HIBM) Completed NCT01634750 Phase 1 ManNAc
12 Pilot Study of the Use of Intravenous Immune Globulin in Hereditary Inclusion Body Myopathy Completed NCT00195637 Phase 1 Immune Globulin
13 GNE-Myopathy Disease Monitoring Program (GNEM-DMP): A Registry and Prospective Observational Natural History Study to Assess GNE Myopathy or Hereditary Inclusion Body Myopathy (HIBM) Completed NCT01784679
14 International GNE Myopathy Patient Registry (GNE001) Recruiting NCT04009226
15 A Natural History Study of Patients With GNE Myopathy Recruiting NCT01417533
16 Family Studies in Neuromuscular Disorders Recruiting NCT01459302

Search NIH Clinical Center for Tibial Muscular Dystrophy

Cochrane evidence based reviews: distal myopathies

Genetic Tests for Tibial Muscular Dystrophy

Genetic tests related to Tibial Muscular Dystrophy:

# Genetic test Affiliating Genes
1 Tibial Muscular Dystrophy 29 TTN

Anatomical Context for Tibial Muscular Dystrophy

MalaCards organs/tissues related to Tibial Muscular Dystrophy:

40
Skeletal Muscle

Publications for Tibial Muscular Dystrophy

Articles related to Tibial Muscular Dystrophy:

(show all 42)
# Title Authors PMID Year
1
Titin in muscular dystrophy and cardiomyopathy: Urinary titin as a novel marker. 61
30959043 2019
2
A novel mitochondrial micropeptide MPM enhances mitochondrial respiratory activity and promotes myogenic differentiation. 61
31296841 2019
3
A novel mutation in TTN gene in a Saudi patient with bilateral facial weakness and scapular winging. 61
31218166 2019
4
Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy. 61
27796757 2017
5
Distal myopathies in Finnish patients. 61
29188941 2016
6
CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy. 61
25877298 2015
7
Biophysical characterization of naturally occurring titin M10 mutations. 61
25739468 2015
8
Most expression and splicing changes in myotonic dystrophy type 1 and type 2 skeletal muscle are shared with other muscular dystrophies. 61
24332166 2014
9
The titin A-band rod domain is dispensable for initial thick filament assembly in zebrafish. 61
24370452 2014
10
Atypical phenotypes in titinopathies explained by second titin mutations. 61
24395473 2014
11
Gene expression profiling in tibial muscular dystrophy reveals unfolded protein response and altered autophagy. 61
24618559 2014
12
Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland. 61
21364698 2011
13
Distal muscular dystrophies. 61
21496636 2011
14
Removal of the calpain 3 protease reverses the myopathology in a mouse model for titinopathies. 61
20855473 2010
15
Myopathies caused by homozygous titin mutations: limb-girdle muscular dystrophy 2J and variations of phenotype. 61
20571043 2010
16
Interactions with M-band titin and calpain 3 link myospryn (CMYA5) to tibial and limb-girdle muscular dystrophies. 61
20634290 2010
17
The first Italian family with tibial muscular dystrophy caused by a novel titin mutation. 61
19911250 2010
18
Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD). 61
18948003 2008
19
Dysferlinopathy: a clinical and histopathological study of 28 patients from India. 61
18974568 2008
20
Distal myopathies. 61
16155432 2005
21
Mdm muscular dystrophy: interactions with calpain 3 and a novel functional role for titin's N2A domain. 61
16115818 2005
22
Tibial muscular dystrophy with late adult onset in a Spanish family. 61
16218196 2005
23
Udd Distal Myopathy – Tibial Muscular Dystrophy 61
20301498 2005
24
Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J. 61
15728284 2005
25
Muscle magnetic resonance imaging shows distinct diagnostic patterns in Welander and tibial muscular dystrophy. 61
15242415 2004
26
Tibial muscular dystrophy in a Belgian family. 61
12891679 2003
27
A distinct phenotype of distal myopathy in a large Finnish family. 61
12847162 2003
28
The role of titin in muscular disorders. 61
14572168 2003
29
Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. 61
12145747 2002
30
The muscular dystrophy with myositis (mdm) mouse mutation disrupts a skeletal muscle-specific domain of titin. 61
11829483 2002
31
Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene. 61
11294923 2001
32
[Tibial muscular dystrophy]. 61
11555988 2001
33
Distal myopathies. 61
10787109 2000
34
Distal myopathies. 61
10590885 1999
35
[Tibial muscular dystrophy. A rare form of distal myopathy]. 61
10367327 1999
36
The first European family with tibial muscular dystrophy outside the Finnish population. 61
9855539 1998
37
Tibial muscular dystrophy--from clinical description to linkage on chromosome 2q31. 61
9673987 1998
38
Welander hereditary distal myopathy, a molecular genetic comparison to hereditary myopathies with inclusion bodies. 61
9608564 1998
39
Assignment of the tibial muscular dystrophy locus to chromosome 2q31. 61
9497249 1998
40
Linkage analyses in tibial muscular dystrophy. 61
8666419 1996
41
Early onset distal muscular dystrophy. 61
7573762 1995
42
Tibial muscular dystrophy. Late adult-onset distal myopathy in 66 Finnish patients. 61
8503797 1993

Variations for Tibial Muscular Dystrophy

ClinVar genetic disease variations for Tibial Muscular Dystrophy:

6 (show top 50) (show all 1957) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TTN NM_001267550.2(TTN):c.82657G>T (p.Gly27553Ter)SNV Pathogenic 488810 rs869178171 2:179428202-179428202 2:178563475-178563475
2 TTN NM_003319.4(TTN):c.80585_80595delinsTGAAAGAAAAA (p.Glu26862_Trp26865delinsValLysGluLys)indel Pathogenic 12652 rs281864927 2:179391925-179391935 2:178527198-178527208
3 TTN NM_001267550.2(TTN):c.107867T>C (p.Leu35956Pro)SNV Pathogenic 12653 rs267607156 2:179391848-179391848 2:178527121-178527121
4 TTN NM_001267550.2(TTN):c.107840T>A (p.Ile35947Asn)SNV Pathogenic 12654 rs281864928 2:179391875-179391875 2:178527148-178527148
5 TTN NM_001267550.2(TTN):c.107837A>C (p.His35946Pro)SNV Pathogenic 38438 rs281864931 2:179391878-179391878 2:178527151-178527151
6 TTN NM_001267550.2(TTN):c.107889del (p.Lys35963fs)deletion Pathogenic 38439 rs281864930 2:179391826-179391826 2:178527099-178527099
7 TTN NM_001267550.2(TTN):c.107890C>T (p.Gln35964Ter)SNV Pathogenic 38440 rs281864929 2:179391825-179391825 2:178527098-178527098
8 TTN NM_001267550.2(TTN):c.107892_107897del (p.Gln35964_Gly35966delinsHis)deletion Pathogenic 38441 rs281864933 2:179391818-179391823 2:178527091-178527096
9 TTN NM_001267550.2(TTN):c.107647del (p.Ser35883fs)deletion Pathogenic 38442 rs281864932 2:179392206-179392206 2:178527479-178527479
10 TTN NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter)SNV Pathogenic/Likely pathogenic 180573 rs574660186 2:179444429-179444429 2:178579702-178579702
11 TTN NM_001267550.2(TTN):c.75134_75137AGAA[1] (p.Lys25046fs)short repeat Pathogenic/Likely pathogenic 202467 rs794729340 2:179435718-179435721 2:178570991-178570994
12 TTN NM_001267550.2(TTN):c.89221dup (p.Ile29741fs)duplication Likely pathogenic 417932 rs1553543413 2:179418510-179418511 2:178553783-178553784
13 TTN NM_001267550.2(TTN):c.98606G>C (p.Arg32869Pro)SNV Likely pathogenic 130686 rs587780495 2:179404186-179404186 2:178539459-178539459
14 TTN NM_001267550.2(TTN):c.6517T>G (p.Leu2173Val)SNV Conflicting interpretations of pathogenicity 332951 rs760798049 2:179639921-179639921 2:178775194-178775194
15 TTN NM_001267550.2(TTN):c.3242C>T (p.Ala1081Val)SNV Conflicting interpretations of pathogenicity 332961 rs528216574 2:179647077-179647077 2:178782350-178782350
16 TTN NM_001267550.2(TTN):c.*280A>GSNV Conflicting interpretations of pathogenicity 332670 rs549242855 2:179391459-179391459 2:178526732-178526732
17 TTN NM_001267550.2(TTN):c.*130G>CSNV Conflicting interpretations of pathogenicity 332673 rs144026962 2:179391609-179391609 2:178526882-178526882
18 TTN NM_001267550.2(TTN):c.*25C>TSNV Conflicting interpretations of pathogenicity 332676 rs370597649 2:179391714-179391714 2:178526987-178526987
19 TTN NM_001267550.2(TTN):c.105383C>T (p.Ala35128Val)SNV Conflicting interpretations of pathogenicity 332687 rs758458467 2:179395959-179395959 2:178531232-178531232
20 TTN NM_001267550.2(TTN):c.104277G>A (p.Lys34759=)SNV Conflicting interpretations of pathogenicity 332692 rs377391143 2:179397065-179397065 2:178532338-178532338
21 TTN NM_001267550.2(TTN):c.99966G>T (p.Trp33322Cys)SNV Conflicting interpretations of pathogenicity 332704 rs775769503 2:179401870-179401870 2:178537143-178537143
22 TTN NM_001267550.2(TTN):c.99567C>T (p.Leu33189=)SNV Conflicting interpretations of pathogenicity 332706 rs745708104 2:179402367-179402367 2:178537640-178537640
23 TTN NM_001267550.2(TTN):c.99154C>T (p.Arg33052Cys)SNV Conflicting interpretations of pathogenicity 332710 rs758109676 2:179403402-179403402 2:178538675-178538675
24 TTN NM_001267550.2(TTN):c.97717C>T (p.Arg32573Cys)SNV Conflicting interpretations of pathogenicity 332714 rs569593251 2:179406087-179406087 2:178541360-178541360
25 TTN NM_001267550.2(TTN):c.97524A>G (p.Ile32508Met)SNV Conflicting interpretations of pathogenicity 332716 rs755848026 2:179406280-179406280 2:178541553-178541553
26 TTN NM_001267550.2(TTN):c.95016T>C (p.Thr31672=)SNV Conflicting interpretations of pathogenicity 332724 rs367549998 2:179411042-179411042 2:178546315-178546315
27 TTN NM_001267550.2(TTN):c.92058C>T (p.Asn30686=)SNV Conflicting interpretations of pathogenicity 332729 rs545632095 2:179414391-179414391 2:178549664-178549664
28 TTN NM_001267550.2(TTN):c.80904C>T (p.Ile26968=)SNV Conflicting interpretations of pathogenicity 332764 rs539234338 2:179429955-179429955 2:178565228-178565228
29 TTN NM_001267550.2(TTN):c.79155G>A (p.Val26385=)SNV Conflicting interpretations of pathogenicity 332770 rs377618488 2:179431704-179431704 2:178566977-178566977
30 TTN NM_001267550.2(TTN):c.77649C>T (p.Ile25883=)SNV Conflicting interpretations of pathogenicity 332774 rs747430905 2:179433210-179433210 2:178568483-178568483
31 TTN NM_001267550.2(TTN):c.74602A>G (p.Ile24868Val)SNV Conflicting interpretations of pathogenicity 332783 rs72646898 2:179436257-179436257 2:178571530-178571530
32 TTN NM_001267550.2(TTN):c.71883T>C (p.Val23961=)SNV Conflicting interpretations of pathogenicity 332788 rs368692510 2:179438976-179438976 2:178574249-178574249
33 TTN NM_001267550.2(TTN):c.71793A>G (p.Pro23931=)SNV Conflicting interpretations of pathogenicity 332790 rs780920316 2:179439066-179439066 2:178574339-178574339
34 TTN NM_001267550.2(TTN):c.71058G>A (p.Ala23686=)SNV Conflicting interpretations of pathogenicity 332791 rs375183437 2:179439801-179439801 2:178575074-178575074
35 TTN NM_001267550.2(TTN):c.65499A>G (p.Arg21833=)SNV Conflicting interpretations of pathogenicity 332804 rs369255906 2:179448410-179448410 2:178583683-178583683
36 TTN NM_001267550.2(TTN):c.62609A>C (p.Asn20870Thr)SNV Conflicting interpretations of pathogenicity 332815 rs376338324 2:179453843-179453843 2:178589116-178589116
37 TTN NM_001267550.2(TTN):c.46884G>A (p.Lys15628=)SNV Conflicting interpretations of pathogenicity 332856 rs760251812 2:179483393-179483393 2:178618666-178618666
38 TTN NM_001267550.2(TTN):c.45979C>T (p.Arg15327Cys)SNV Conflicting interpretations of pathogenicity 332861 rs367774903 2:179485269-179485269 2:178620542-178620542
39 TTN NM_001267550.2(TTN):c.44599G>A (p.Gly14867Arg)SNV Conflicting interpretations of pathogenicity 332867 rs144848584 2:179489408-179489408 2:178624681-178624681
40 TTN NM_001267550.2(TTN):c.39044-15C>TSNV Conflicting interpretations of pathogenicity 332879 rs749495580 2:179517283-179517283 2:178652556-178652556
41 TTN NM_001267550.2(TTN):c.32954G>C (p.Arg10985Pro)SNV Conflicting interpretations of pathogenicity 332887 rs181395238 2:179547564-179547564 2:178682837-178682837
42 TTN NM_001267550.2(TTN):c.30683-3deldeletion Conflicting interpretations of pathogenicity 332897 rs368277751 2:179563644-179563644 2:178698917-178698917
43 TTN NM_001267550.2(TTN):c.22473C>T (p.Cys7491=)SNV Conflicting interpretations of pathogenicity 332914 rs566454891 2:179587041-179587041 2:178722314-178722314
44 TTN NM_001267550.2(TTN):c.15408G>A (p.Ser5136=)SNV Conflicting interpretations of pathogenicity 332933 rs761269554 2:179599143-179599143 2:178734416-178734416
45 TTN NM_001267550.2(TTN):c.10191C>A (p.Asp3397Glu)SNV Conflicting interpretations of pathogenicity 332937 rs773862320 2:179623823-179623823 2:178759096-178759096
46 TTN NM_001267550.2(TTN):c.9348C>G (p.Ile3116Met)SNV Conflicting interpretations of pathogenicity 332942 rs760230943 2:179632609-179632609 2:178767882-178767882
47 TTN NM_001267550.2(TTN):c.6958C>T (p.Arg2320Cys)SNV Conflicting interpretations of pathogenicity 332949 rs776478343 2:179639033-179639033 2:178774306-178774306
48 TTN NM_001267550.2(TTN):c.5073A>T (p.Glu1691Asp)SNV Conflicting interpretations of pathogenicity 332953 rs770902874 2:179641518-179641518 2:178776791-178776791
49 TTN NM_133379.5(TTN):c.1398+9G>ASNV Conflicting interpretations of pathogenicity 332969 rs368350210 2:179659117-179659117 2:178794390-178794390
50 TTN NM_001267550.2(TTN):c.*1015A>GSNV Conflicting interpretations of pathogenicity 332662 rs72629798 2:179390724-179390724 2:178525997-178525997

Expression for Tibial Muscular Dystrophy

Search GEO for disease gene expression data for Tibial Muscular Dystrophy.

Pathways for Tibial Muscular Dystrophy

GO Terms for Tibial Muscular Dystrophy

Cellular components related to Tibial Muscular Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.28 TTN TCAP OBSL1 OBSCN NEB MYOT
2 myofibril GO:0030016 9.73 OBSCN NEB DMD CAPN3 ANKRD23 ANKRD2
3 sarcolemma GO:0042383 9.71 OBSCN MYOT DYSF DMD
4 sarcomere GO:0030017 9.7 TTN TCAP OBSCN NEB MYOM3 MYOM1
5 I band GO:0031674 9.54 TTN TCAP ANKRD2
6 striated muscle thin filament GO:0005865 9.5 TTN MYOM3 MYOM1
7 M band GO:0031430 9.43 TTN OBSL1 OBSCN MYOM3 MYOM1 CMYA5
8 Z disc GO:0030018 9.36 TTN TCAP OBSL1 OBSCN NEB MYOT

Biological processes related to Tibial Muscular Dystrophy according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.85 TTN MYOT MYOM3 MYOM1 DYSF ANKRD2
2 muscle organ development GO:0007517 9.81 NEB DMD CAPN3 ANKRD2
3 actin filament organization GO:0007015 9.77 TTN MYOM3 MYOM1
4 muscle filament sliding GO:0030049 9.76 TTN TCAP NEB DMD
5 cardiac muscle contraction GO:0060048 9.72 TTN TCAP DMD
6 cardiac muscle tissue morphogenesis GO:0055008 9.71 TTN TCAP MYOM3 MYOM1
7 striated muscle contraction GO:0006941 9.67 TTN MYOM3 MYOM1
8 muscle fiber development GO:0048747 9.65 NEB DYSF DMD
9 cardiac muscle fiber development GO:0048739 9.62 TTN TCAP MYOM3 MYOM1
10 skeletal muscle tissue regeneration GO:0043403 9.61 DYSF DMD
11 striated muscle myosin thick filament assembly GO:0071688 9.61 TTN MYOM3 MYOM1
12 muscle cell cellular homeostasis GO:0046716 9.59 DMD CAPN3
13 response to muscle stretch GO:0035994 9.58 TCAP DMD
14 protein kinase A signaling GO:0010737 9.58 TTN MYOM1
15 cardiac muscle hypertrophy GO:0003300 9.57 TTN TCAP
16 muscle structure development GO:0061061 9.56 LDB3 CAPN3
17 skeletal muscle thin filament assembly GO:0030240 9.56 TTN TCAP MYOM3 MYOM1
18 detection of muscle stretch GO:0035995 9.54 TTN TCAP
19 sarcomerogenesis GO:0048769 9.52 TTN TCAP
20 skeletal muscle myosin thick filament assembly GO:0030241 9.46 TTN TCAP MYOM3 MYOM1
21 cardiac myofibril assembly GO:0055003 9.35 TTN TCAP OBSL1 MYOM3 MYOM1
22 sarcomere organization GO:0045214 9.17 TTN TCAP OBSCN MYOM3 MYOM1 LDB3

Molecular functions related to Tibial Muscular Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.25 TTN TCAP STT3A OBSL1 OBSCN NEB
2 actin binding GO:0003779 9.67 NEB MYOT LDB3 DMD
3 actin filament binding GO:0051015 9.56 TTN NEB MYOM3 MYOM1
4 muscle alpha-actinin binding GO:0051371 9.46 TTN MYOM3 MYOM1 LDB3
5 titin binding GO:0031432 9.35 TCAP OBSCN CAPN3 ANKRD23 ANKRD2
6 structural constituent of muscle GO:0008307 9.32 TTN TCAP OBSCN NEB MYOT MYOM3

Sources for Tibial Muscular Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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