MCID: TBL009
MIFTS: 18

Tibial Muscular Dystrophy

Categories: Muscle diseases

Aliases & Classifications for Tibial Muscular Dystrophy

MalaCards integrated aliases for Tibial Muscular Dystrophy:

Name: Tibial Muscular Dystrophy 12 25 37 73
Tardive Tibial Muscular Dystrophy 12 25
Udd Distal Myopathy 24 25
Udd Myopathy 12 25
Tmd 12 25
Tibial Muscular Dystrophy, Tardive 73
Finnish Tibial Muscular Dystrophy 12
Udd-Markesbery Muscular Dystrophy 25
Dystrophy, Muscular, Tibial 40
Udd Type Distal Myopathy 12
Distal Titinopathy 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0111078
ICD10 33 G71.0
MeSH 44 C536815
KEGG 37 H01976

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.

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

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:

# Related Disease Score Top Affiliating Genes
1 tibial muscular dystrophy, tardive 12.6
2 muscular dystrophy 10.4
3 distal muscular dystrophy 9.9
4 myopathy 9.9

Symptoms & Phenotypes for Tibial Muscular Dystrophy

Drugs & Therapeutics for Tibial Muscular Dystrophy

Search Clinical Trials , NIH Clinical Center for Tibial Muscular Dystrophy

Genetic Tests for Tibial Muscular Dystrophy

Anatomical Context for Tibial Muscular Dystrophy

MalaCards organs/tissues related to Tibial Muscular Dystrophy:

41
Skeletal Muscle

Publications for Tibial Muscular Dystrophy

Articles related to Tibial Muscular Dystrophy:

(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

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

Sources for Tibial Muscular Dystrophy

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
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