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 43 36 29 6 15 71
Tardive Tibial Muscular Dystrophy 12 43
Udd Myopathy 12 43
Tmd 12 43
Tibial Muscular Dystrophy, Tardive 71
Finnish Tibial Muscular Dystrophy 12
Udd-Markesbery Muscular Dystrophy 43
Dystrophy, Muscular, Tibial 39
Udd Type Distal Myopathy 12
Udd Distal Myopathy 43
Distal Titinopathy 12
Distal Myopathies 44

Classifications:



External Ids:

Disease Ontology 12 DOID:0111078
KEGG 36 H01976
MeSH 44 D049310
SNOMED-CT 67 698846009
UMLS 71 C1450052 C1838244

Summaries for Tibial Muscular Dystrophy

MedlinePlus Genetics : 43 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 autosomal dominant distal myopathy and foot drop. 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 195)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant distal myopathy 30.9 MYOT DMD
2 foot drop 30.8 TTN NEB MYOT DYSF
3 miyoshi muscular dystrophy 30.8 TTN TCAP MYOT FLNC DYSF DMD
4 myopathy 30.4 TTN-AS1 TTN TCAP NEB MYOT LDB3
5 dysferlinopathy 30.3 DYSF CAPN3
6 nonaka myopathy 30.3 TTN MYOT LDB3 FLNC DYSF DMD
7 limb-girdle muscular dystrophy 30.2 TTN-AS1 TTN TCAP MYOT DYSF CAPN3
8 muscular dystrophy 30.1 TTN-AS1 TTN TCAP OBSCN NEB MYOT
9 autosomal recessive limb-girdle muscular dystrophy type 2j 30.0 TTN TCAP OBSCN MYOT DYSF CMYA5
10 facioscapulohumeral muscular dystrophy 1 29.9 MYOT LDB3 DYSF DMD CAPN3
11 myositis 29.8 TTN NEB DYSF DMD CAPN3
12 neuromuscular disease 29.8 TTN-AS1 TTN TCAP MYOT LDB3 DYSF
13 myofibrillar myopathy 29.7 TTN TCAP NEB MYOT LDB3 FLNC
14 myopathy, myofibrillar, 3 29.6 TTN TCAP MYOT LDB3 FLNC DYSF
15 myopathy, myofibrillar, 1 29.6 TTN NEB MYOT LDB3 FLNC DYSF
16 myopathy, myofibrillar, 9, with early respiratory failure 29.1 TTN-AS1 TTN TCAP OBSCN NEB MYOT
17 tibial muscular dystrophy, tardive 11.8
18 udd distal myopathy - tibial muscular dystrophy 11.3
19 myeloproliferative syndrome, transient 11.1
20 chronic pain 10.6
21 bruxism 10.5
22 headache 10.4
23 left ventricular noncompaction 2 10.4 TTN-AS1 TTN
24 multiminicore disease 10.4 TTN-AS1 TTN
25 autosomal recessive limb-girdle muscular dystrophy type 2q 10.4 TCAP MYOT
26 hereditary proximal myopathy with early respiratory failure 10.4 TTN-AS1 TTN
27 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.4 TTN LDB3
28 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.4 TTN LDB3
29 scapuloperoneal syndrome, neurogenic, kaeser type 10.4 MYOT LDB3
30 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.4 TTN LDB3
31 cardiomyopathy, dilated, 1a 10.4 TTN-AS1 TTN MYOT
32 localized lipodystrophy 10.3 DYSF DMD
33 autosomal recessive limb-girdle muscular dystrophy type 2x 10.3 MYOT DYSF
34 autosomal recessive limb-girdle muscular dystrophy type 2l 10.3 MYOT DYSF CAPN3
35 mitochondrial dna depletion syndrome 12b 10.3 TTN OBSCN FLNC
36 muscular dystrophy-dystroglycanopathy , type c, 4 10.3 MYOT DYSF CAPN3
37 central core disease of muscle 10.3 NEB MYOT
38 muscular dystrophy, limb-girdle, autosomal dominant 1 10.3 MYOT DYSF CAPN3
39 salih myopathy 10.3 TTN-AS1 TTN
40 muscular dystrophy-dystroglycanopathy , type c, 9 10.3 MYOT DYSF
41 myopathy, myofibrillar, 2 10.3 MYOT LDB3 FLNC
42 cardiomyopathy, dilated, 1dd 10.3 TTN LDB3
43 cardioneuromyopathy with hyaline masses and nemaline rods 10.3 TTN NEB DMD
44 third-degree atrioventricular block 10.3 TTN-AS1 TTN
45 reducing body myopathy 10.3 TTN NEB DMD
46 muscular dystrophy, limb-girdle, autosomal recessive 4 10.3 TTN TCAP DYSF CAPN3
47 muscular dystrophy, limb-girdle, autosomal recessive 8 10.3 TTN TCAP DYSF CAPN3
48 whiplash 10.3
49 muscular dystrophy-dystroglycanopathy , type c, 5 10.3 TTN TCAP DYSF CAPN3
50 autosomal recessive limb-girdle muscular dystrophy type 2h 10.3 TCAP MYOT DYSF CAPN3

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 mildly elevated creatine kinase 31 frequent (33%) HP:0008180
5 increased muscle lipid content 31 frequent (33%) HP:0009058
6 difficulty walking 31 frequent (33%) HP:0002355
7 increased variability in muscle fiber diameter 31 frequent (33%) HP:0003557
8 centrally nucleated skeletal muscle fibers 31 frequent (33%) HP:0003687
9 foot dorsiflexor weakness 31 frequent (33%) HP:0009027
10 peroneal muscle atrophy 31 frequent (33%) HP:0009049
11 ankle weakness 31 frequent (33%) HP:0031374
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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.36 ANKRD2 ANKRD23 CAPN3 DMD DYSF FLNC

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 Immunologic Factors Phase 1
4 Immunoglobulins Phase 1
5 gamma-Globulins Phase 1
6 Antibodies Phase 1
7 Immunoglobulins, Intravenous Phase 1
8 Rho(D) Immune Globulin 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 Efficacy Confirmation Study of NPC-09 Not yet recruiting NCT04671472 Phase 3 NPC-09;NPC-09 placebo
3 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
4 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
5 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
6 An Open-Label Phase 2 Study of ManNAc in Subjects With GNE Myopathy Completed NCT02346461 Phase 2 ManNAc;ManNAc
7 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
8 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
9 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
10 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
11 Pilot Study of the Use of Intravenous Immune Globulin in Hereditary Inclusion Body Myopathy Completed NCT00195637 Phase 1 Immune Globulin
12 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
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 A Natural History Study of Patients With GNE Myopathy and GNE-Related Diseases Recruiting NCT01417533
15 Family Studies in Neuromuscular Disorders Recruiting NCT01459302
16 International GNE Myopathy Patient Registry (GNE001) Recruiting NCT04009226

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 41)
# Title Authors PMID Year
1
Interactions with M-band titin and calpain 3 link myospryn (CMYA5) to tibial and limb-girdle muscular dystrophies. 61 6
20634290 2010
2
Tibial muscular dystrophy in a Belgian family. 6 61
12891679 2003
3
Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. 6 61
12145747 2002
4
Titin in muscular dystrophy and cardiomyopathy: Urinary titin as a novel marker. 61
30959043 2019
5
A novel mitochondrial micropeptide MPM enhances mitochondrial respiratory activity and promotes myogenic differentiation. 61
31296841 2019
6
A novel mutation in TTN gene in a Saudi patient with bilateral facial weakness and scapular winging. 61
31218166 2019
7
Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy. 61
27796757 2017
8
Distal myopathies in Finnish patients. 61
29188941 2016
9
CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy. 61
25877298 2015
10
Biophysical characterization of naturally occurring titin M10 mutations. 61
25739468 2015
11
Most expression and splicing changes in myotonic dystrophy type 1 and type 2 skeletal muscle are shared with other muscular dystrophies. 61
24332166 2014
12
The titin A-band rod domain is dispensable for initial thick filament assembly in zebrafish. 61
24370452 2014
13
Atypical phenotypes in titinopathies explained by second titin mutations. 61
24395473 2014
14
Gene expression profiling in tibial muscular dystrophy reveals unfolded protein response and altered autophagy. 61
24618559 2014
15
Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland. 61
21364698 2011
16
Distal muscular dystrophies. 61
21496636 2011
17
Removal of the calpain 3 protease reverses the myopathology in a mouse model for titinopathies. 61
20855473 2010
18
Myopathies caused by homozygous titin mutations: limb-girdle muscular dystrophy 2J and variations of phenotype. 61
20571043 2010
19
The first Italian family with tibial muscular dystrophy caused by a novel titin mutation. 61
19911250 2010
20
Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD). 61
18948003 2008
21
Dysferlinopathy: a clinical and histopathological study of 28 patients from India. 61
18974568 2008
22
Mdm muscular dystrophy: interactions with calpain 3 and a novel functional role for titin's N2A domain. 61
16115818 2005
23
Distal myopathies. 61
16155432 2005
24
Tibial muscular dystrophy with late adult onset in a Spanish family. 61
16218196 2005
25
Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J. 61
15728284 2005
26
Udd Distal Myopathy – Tibial Muscular Dystrophy 61
20301498 2005
27
Muscle magnetic resonance imaging shows distinct diagnostic patterns in Welander and tibial muscular dystrophy. 61
15242415 2004
28
A distinct phenotype of distal myopathy in a large Finnish family. 61
12847162 2003
29
The role of titin in muscular disorders. 61
14572168 2003
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
Early onset distal muscular dystrophy. 61
7573762 1995
41
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 2004)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TTN-AS1 NM_003319.4(TTN):c.80585_80595delinsTGAAAGAAAAA (p.Glu26862_Trp26865delinsValLysGluLys) Indel Pathogenic 12652 rs281864927 2:179391925-179391935 2:178527198-178527208
2 TTN-AS1 NM_001267550.2(TTN):c.107867T>C (p.Leu35956Pro) SNV Pathogenic 12653 rs267607156 2:179391848-179391848 2:178527121-178527121
3 TTN-AS1 NM_001267550.2(TTN):c.107840T>A (p.Ile35947Asn) SNV Pathogenic 12654 rs281864928 2:179391875-179391875 2:178527148-178527148
4 TTN-AS1 NM_001267550.2(TTN):c.107837A>C (p.His35946Pro) SNV Pathogenic 38438 rs281864931 2:179391878-179391878 2:178527151-178527151
5 TTN-AS1 NM_001267550.2(TTN):c.107890C>T (p.Gln35964Ter) SNV Pathogenic 38440 rs281864929 2:179391825-179391825 2:178527098-178527098
6 TTN-AS1 NM_001267550.2(TTN):c.107892_107897del (p.Gln35964_Gly35966delinsHis) Deletion Pathogenic 38441 rs281864933 2:179391818-179391823 2:178527091-178527096
7 TTN-AS1 NM_001267550.2(TTN):c.107647del (p.Ser35883fs) Deletion Pathogenic 38442 rs281864932 2:179392206-179392206 2:178527479-178527479
8 TTN NM_001267550.2(TTN):c.15796C>T (p.Arg5266Ter) SNV Pathogenic 130662 rs372277017 2:179598224-179598224 2:178733497-178733497
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.6555_6556insTGTAAGGAAACAGACA (p.Lys2186fs) Insertion Pathogenic 130679 rs587780494 2:179639882-179639883 2:178775155-178775156
11 TTN NM_001267550.2(TTN):c.16288C>T (p.Arg5430Ter) SNV Pathogenic 282527 rs772235481 2:179597615-179597615 2:178732888-178732888
12 TTN NM_133378.4(TTN):c.10361-1G>A SNV Pathogenic 223347 rs869312099 2:179603088-179603088 2:178738361-178738361
13 TTN-AS1 NM_001267550.2(TTN):c.82657G>T (p.Gly27553Ter) SNV Pathogenic 488810 rs869178171 2:179428202-179428202 2:178563475-178563475
14 TTN-AS1 NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter) SNV Pathogenic 180573 rs574660186 2:179444429-179444429 2:178579702-178579702
15 TTN-AS1 NM_001267550.2(TTN):c.75134_75137AGAA[1] (p.Lys25046fs) Microsatellite Pathogenic 202467 rs794729340 2:179435718-179435721 2:178570991-178570994
16 TTN-AS1 NM_001267550.2(TTN):c.50083C>T (p.Arg16695Ter) SNV Pathogenic 202377 rs751502842 2:179477169-179477169 2:178612442-178612442
17 TTN-AS1 NM_001267550.2(TTN):c.107889del (p.Lys35963fs) Deletion Pathogenic 38439 rs281864930 2:179391826-179391826 2:178527099-178527099
18 TTN-AS1 NM_001267550.2(TTN):c.47961del (p.Gly15988fs) Deletion Pathogenic 523430 rs1553707780 2:179481655-179481655 2:178616928-178616928
19 TTN-AS1 NM_001267550.2(TTN):c.103360del (p.Glu34454fs) Deletion Pathogenic 374145 rs760768093 2:179397982-179397982 2:178533255-178533255
20 TTN-AS1 NM_001267550.2(TTN):c.79599_79621del (p.Glu26533fs) Deletion Likely pathogenic 932043 2:179431238-179431260 2:178566511-178566533
21 TTN-AS1 NM_001267550.2(TTN):c.104092_104103delinsGAAGCTTT (p.Arg34698fs) Indel Likely pathogenic 932091 2:179397239-179397250 2:178532512-178532523
22 TTN-AS1 NM_001267550.2(TTN):c.58368dup (p.Tyr19457fs) Duplication Likely pathogenic 931526 2:179458751-179458752 2:178594024-178594025
23 TTN NM_001267550.2(TTN):c.32471-1G>A SNV Likely pathogenic 194146 rs371725574 2:179549717-179549717 2:178684990-178684990
24 TTN-AS1 NM_001267550.2(TTN):c.89221dup (p.Ile29741fs) Duplication Likely pathogenic 417932 rs1553543413 2:179418510-179418511 2:178553783-178553784
25 TTN-AS1 NM_001267550.2(TTN):c.98606G>C (p.Arg32869Pro) SNV Likely pathogenic 130686 rs587780495 2:179404186-179404186 2:178539459-178539459
26 TTN-AS1 NM_001267550.2(TTN):c.107840T>C (p.Ile35947Thr) SNV Likely pathogenic 56386 rs281864928 2:179391875-179391875 2:178527148-178527148
27 TTN-AS1 NM_001267550.2(TTN):c.105383C>T (p.Ala35128Val) SNV Conflicting interpretations of pathogenicity 332687 rs758458467 2:179395959-179395959 2:178531232-178531232
28 TTN NM_001267550.2(TTN):c.31456A>T (p.Ile10486Phe) SNV Conflicting interpretations of pathogenicity 332894 rs772882862 2:179558706-179558706 2:178693979-178693979
29 TTN NM_001267550.2(TTN):c.266C>G (p.Ala89Gly) SNV Conflicting interpretations of pathogenicity 192099 rs200165636 2:179666894-179666894 2:178802167-178802167
30 TTN NM_001267550.2(TTN):c.3241G>A (p.Ala1081Thr) SNV Conflicting interpretations of pathogenicity 46931 rs55914517 2:179647078-179647078 2:178782351-178782351
31 TTN NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe) SNV Conflicting interpretations of pathogenicity 46841 rs111671438 2:179563606-179563606 2:178698879-178698879
32 TTN NM_001267550.2(TTN):c.24891G>T (p.Trp8297Cys) SNV Uncertain significance 167799 rs727504205 2:179582842-179582842 2:178718115-178718115
33 TTN-AS1 NM_001267550.2(TTN):c.71723G>A (p.Gly23908Asp) SNV Uncertain significance 179862 rs540161344 2:179439136-179439136 2:178574409-178574409
34 TTN-AS1 NM_001267550.2(TTN):c.70570A>G (p.Thr23524Ala) SNV Uncertain significance 202827 rs369526268 2:179440289-179440289 2:178575562-178575562
35 TTN-AS1 NM_001267550.2(TTN):c.68824G>A (p.Glu22942Lys) SNV Uncertain significance 96298 rs199506676 2:179442329-179442329 2:178577602-178577602
36 TTN-AS1 NM_001267550.2(TTN):c.66391A>G (p.Thr22131Ala) SNV Uncertain significance 47234 rs140842479 2:179446705-179446705 2:178581978-178581978
37 TTN NM_001267550.2(TTN):c.37408G>T (p.Val12470Leu) SNV Uncertain significance 96282 rs398124448 2:179523777-179523777 2:178659050-178659050
38 TTN NM_001267550.2(TTN):c.32767A>C (p.Lys10923Gln) SNV Uncertain significance 179053 rs367720439 2:179548765-179548765 2:178684038-178684038
39 TTN-AS1 NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser) SNV Uncertain significance 47520 rs72648247 2:179414177-179414177 2:178549450-178549450
40 TTN-AS1 NM_001267550.2(TTN):c.61556G>A (p.Arg20519Gln) SNV Uncertain significance 167776 rs727504191 2:179454896-179454896 2:178590169-178590169
41 TTN-AS1 NM_001267550.2(TTN):c.47133A>G (p.Ala15711=) SNV Uncertain significance 379749 rs573218266 2:179483052-179483052 2:178618325-178618325
42 TTN NM_001267550.2(TTN):c.16212G>C (p.Arg5404Ser) SNV Uncertain significance 931527 2:179597691-179597691 2:178732964-178732964
43 TTN NM_001267550.2(TTN):c.11312-3963G>T SNV Uncertain significance 166247 rs148430495 2:179610611-179610611 2:178745884-178745884
44 TTN NM_001267550.2(TTN):c.17278del (p.Thr5760fs) Deletion Uncertain significance 931567 2:179596215-179596215 2:178731488-178731488
45 TTN NM_001267550.2(TTN):c.11311+4088A>G SNV Uncertain significance 47753 rs142304137 2:179613763-179613763 2:178749036-178749036
46 TTN NM_001267550.2(TTN):c.12614T>C (p.Leu4205Ser) SNV Uncertain significance 374150 rs1057518931 2:179605346-179605346 2:178740619-178740619
47 TTN NM_001267550.2(TTN):c.-76A>G SNV Uncertain significance 895685 2:179672001-179672001 2:178807274-178807274
48 TTN NM_001267550.2(TTN):c.440C>G (p.Ser147Cys) SNV Uncertain significance 896960 2:179665265-179665265 2:178800538-178800538
49 TTN NM_001267550.2(TTN):c.27709T>C (p.Ser9237Pro) SNV Uncertain significance 932120 2:179576848-179576848 2:178712121-178712121
50 TTN-AS1 NM_001267550.2(TTN):c.76922G>A (p.Arg25641His) SNV Uncertain significance 202874 rs369707906 2:179433937-179433937 2:178569210-178569210

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 10.3 TTN TCAP OBSL1 OBSCN NEB MYOT
2 actin cytoskeleton GO:0015629 9.73 NEB MYOT DMD ANKRD23
3 sarcolemma GO:0042383 9.65 OBSCN MYOT FLNC DYSF DMD
4 sarcomere GO:0030017 9.62 TCAP OBSCN NEB MYOM1
5 intercalated disc GO:0014704 9.58 OBSL1 OBSCN ANKRD23
6 myofibril GO:0030016 9.55 OBSCN NEB DMD CAPN3 ANKRD23
7 I band GO:0031674 9.54 TTN TCAP ANKRD2
8 costamere GO:0043034 9.48 FLNC DMD
9 M band GO:0031430 9.43 TTN OBSL1 OBSCN MYOM3 MYOM1 CMYA5
10 Z disc GO:0030018 9.32 TTN TCAP OBSL1 OBSCN NEB MYOT

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 muscle organ development GO:0007517 9.67 NEB DMD CAPN3 ANKRD2
2 cardiac muscle contraction GO:0060048 9.63 TTN TCAP DMD
3 muscle cell cellular homeostasis GO:0046716 9.58 DMD CAPN3
4 response to muscle stretch GO:0035994 9.57 TCAP DMD
5 protein kinase A signaling GO:0010737 9.56 TTN MYOM1
6 cardiac muscle tissue morphogenesis GO:0055008 9.55 TTN TCAP
7 cardiac muscle hypertrophy GO:0003300 9.54 TTN TCAP
8 muscle structure development GO:0061061 9.52 LDB3 CAPN3
9 cardiac muscle fiber development GO:0048739 9.51 TTN TCAP
10 muscle fiber development GO:0048747 9.5 NEB FLNC DMD
11 detection of muscle stretch GO:0035995 9.49 TTN TCAP
12 skeletal muscle thin filament assembly GO:0030240 9.48 TTN TCAP
13 muscle filament sliding GO:0030049 9.46 TTN TCAP NEB DMD
14 sarcomerogenesis GO:0048769 9.43 TTN TCAP
15 cardiac myofibril assembly GO:0055003 9.43 TTN TCAP OBSL1
16 muscle contraction GO:0006936 9.43 TTN MYOT MYOM3 MYOM1 DYSF ANKRD2
17 skeletal muscle myosin thick filament assembly GO:0030241 9.4 TTN TCAP
18 sarcomere organization GO:0045214 9.02 TTN TCAP OBSCN LDB3 CAPN3

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

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.65 NEB MYOT LDB3 FLNC DMD
2 actin filament binding GO:0051015 9.55 TTN NEB MYOM3 MYOM1 DMD
3 ankyrin binding GO:0030506 9.37 OBSCN FLNC
4 muscle alpha-actinin binding GO:0051371 9.32 TTN LDB3
5 structural constituent of muscle GO:0008307 9.28 TTN TCAP OBSCN NEB MYOT MYOM1
6 titin binding GO:0031432 9.26 TCAP OBSCN CAPN3 ANKRD23

Sources for Tibial Muscular Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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