MCID: TBL009
MIFTS: 30

Tibial Muscular Dystrophy

Categories: Genetic diseases, Muscle diseases

Aliases & Classifications for Tibial Muscular Dystrophy

MalaCards integrated aliases for Tibial Muscular Dystrophy:

Name: Tibial Muscular Dystrophy 12 26 38 15 74
Tardive Tibial Muscular Dystrophy 12 26
Udd Distal Myopathy 25 26
Udd Myopathy 12 26
Tmd 12 26
Tibial Muscular Dystrophy, Tardive 74
Finnish Tibial Muscular Dystrophy 12
Udd-Markesbery Muscular Dystrophy 26
Dystrophy, Muscular, Tibial 41
Udd Type Distal Myopathy 12
Distal Titinopathy 12
Distal Myopathies 45

Classifications:



External Ids:

Disease Ontology 12 DOID:0111078
KEGG 38 H01976
MeSH 45 D049310

Summaries for Tibial Muscular Dystrophy

Genetics Home Reference : 26 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.

MalaCards based summary : Tibial Muscular Dystrophy, also known as tardive tibial muscular dystrophy, is related to muscular dystrophy and miyoshi muscular dystrophy. An important gene associated with Tibial Muscular Dystrophy is TTN (Titin). Affiliated tissues include skeletal muscle, myeloid and bone marrow, 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.

GeneReviews:

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 116)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy 30.2 CAPN3 CMYA5 TTN
2 miyoshi muscular dystrophy 29.9 CAPN3 TTN
3 limb-girdle muscular dystrophy 29.7 CAPN3 TTN
4 myositis 29.7 CAPN3 TTN
5 muscular dystrophy, limb-girdle, autosomal recessive 2 29.5 CAPN3 TTN
6 tibial muscular dystrophy, tardive 12.8
7 welander distal myopathy 12.6
8 distal myopathy with vocal cord weakness 12.6
9 welander distal myopathy, swedish type 12.5
10 cav3-related distal myopathy 12.4
11 myopathy, distal, 1 12.4
12 late-onset distal myopathy, markesbery-griggs type 12.3
13 amyotrophic lateral sclerosis 21 12.1
14 adult-onset distal myopathy due to vcp mutation 12.1
15 klhl9-related early-onset distal myopathy 12.1
16 inclusion body myositis 12.0
17 myeloproliferative syndrome, transient 12.0
18 myopathy, distal, 4 12.0
19 myopathy, distal, 5 11.9
20 myopathy, distal, with rimmed vacuoles 11.9
21 myopathy, distal, with anterior tibial onset 11.8
22 nonaka myopathy 11.7
23 myopathy, distal, tateyama type 11.7
24 oculopharyngodistal myopathy 11.5
25 miyoshi muscular dystrophy 1 11.5
26 rippling muscle disease 2 11.3
27 myopathy, distal, 3 11.2
28 dysferlinopathy 11.1
29 myopathy, distal, infantile-onset 11.1
30 myopathy, myofibrillar, 2 11.1
31 myopathy, myofibrillar, 4 11.1
32 myopathy, scapulohumeroperoneal 11.1
33 gne-related myopathy 11.1
34 distal nebulin myopathy 11.1
35 peripheral neuropathy, myopathy, hoarseness, and hearing loss 11.0
36 ring dermoid of cornea 10.7
37 headache 10.5
38 bruxism 10.4
39 whiplash 10.3
40 joint disorders 10.3
41 pain - chronic 10.3
42 depression 10.2
43 down syndrome 10.2
44 anxiety 10.2
45 autosomal recessive limb-girdle muscular dystrophy type 2j 10.1 CAPN3 TTN
46 autosomal recessive limb-girdle muscular dystrophy type 2a 10.0 CAPN3 TTN
47 muscular dystrophy, limb-girdle, autosomal recessive 8 10.0 CAPN3 TTN
48 muscular dystrophy, limb-girdle, autosomal recessive 7 10.0 CAPN3 TTN
49 oculopharyngeal muscular dystrophy 10.0
50 muscular dystrophy, limb-girdle, autosomal recessive 10 10.0

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:

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

Drugs & Therapeutics for Tibial Muscular Dystrophy

Search Clinical Trials , NIH Clinical Center for Tibial Muscular Dystrophy

Cochrane evidence based reviews: distal myopathies

Genetic Tests for Tibial Muscular Dystrophy

Anatomical Context for Tibial Muscular Dystrophy

MalaCards organs/tissues related to Tibial Muscular Dystrophy:

42
Skeletal Muscle, Myeloid, Bone Marrow

Publications for Tibial Muscular Dystrophy

Articles related to Tibial Muscular Dystrophy:

(show all 13)
# 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
Interactions with M-band titin and calpain 3 link myospryn (CMYA5) to tibial and limb-girdle muscular dystrophies. ( 20634290 )
2010
4
Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD). ( 18948003 )
2008
5
Tibial muscular dystrophy with late adult onset in a Spanish family. ( 16218196 )
2005
6
Muscle magnetic resonance imaging shows distinct diagnostic patterns in Welander and tibial muscular dystrophy. ( 15242415 )
2004
7
Tibial muscular dystrophy in a Belgian family. ( 12891679 )
2003
8
Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. ( 12145747 )
2002
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
The first European family with tibial muscular dystrophy outside the Finnish population. ( 9855539 )
1998
12
Linkage analyses in tibial muscular dystrophy. ( 8666419 )
1996
13
Tibial muscular dystrophy. Late adult-onset distal myopathy in 66 Finnish patients. ( 8503797 )
1993

Variations for Tibial Muscular Dystrophy

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 Z disc GO:0030018 8.96 CAPN3 TTN
2 M band GO:0031430 8.62 CMYA5 TTN

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

# Name GO ID Score Top Affiliating Genes
1 regulation of catalytic activity GO:0050790 9.16 CAPN3 TTN
2 response to calcium ion GO:0051592 8.96 CAPN3 TTN
3 sarcomere organization GO:0045214 8.62 CAPN3 TTN

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

# Name GO ID Score Top Affiliating Genes
1 structural constituent of muscle GO:0008307 8.62 CAPN3 TTN

Sources for Tibial Muscular Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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