MCID: UDD002
MIFTS: 10

Udd Distal Myopathy - Tibial Muscular Dystrophy

Categories: Muscle diseases

Aliases & Classifications for Udd Distal Myopathy - Tibial Muscular Dystrophy

MalaCards integrated aliases for Udd Distal Myopathy - Tibial Muscular Dystrophy:

Name: Udd Distal Myopathy - Tibial Muscular Dystrophy 25
Udd Myopathy 25

Characteristics:

GeneReviews:

25
Penetrance Penetrance is close to 100% at age 65 years.

Classifications:



Summaries for Udd Distal Myopathy - Tibial Muscular Dystrophy

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

GeneReviews: NBK1323

Related Diseases for Udd Distal Myopathy - Tibial Muscular Dystrophy

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

# Related Disease Score Top Affiliating Genes
1 tibial muscular dystrophy, tardive 11.4
2 miyoshi muscular dystrophy 10.4
3 tibial muscular dystrophy 10.4
4 myopathy 10.4
5 muscular dystrophy 10.4
6 limb-girdle muscular dystrophy 10.4
7 foot drop 10.4

Graphical network of the top 20 diseases related to Udd Distal Myopathy - Tibial Muscular Dystrophy:



Diseases related to Udd Distal Myopathy - Tibial Muscular Dystrophy

Symptoms & Phenotypes for Udd Distal Myopathy - Tibial Muscular Dystrophy

Drugs & Therapeutics for Udd Distal Myopathy - Tibial Muscular Dystrophy

Search Clinical Trials , NIH Clinical Center for Udd Distal Myopathy - Tibial Muscular Dystrophy

Genetic Tests for Udd Distal Myopathy - Tibial Muscular Dystrophy

Anatomical Context for Udd Distal Myopathy - Tibial Muscular Dystrophy

MalaCards organs/tissues related to Udd Distal Myopathy - Tibial Muscular Dystrophy:

40
Skeletal Muscle

Publications for Udd Distal Myopathy - Tibial Muscular Dystrophy

Articles related to Udd Distal Myopathy - Tibial Muscular Dystrophy:

(show all 22)
# Title Authors PMID Year
1
The first Italian family with tibial muscular dystrophy caused by a novel titin mutation. 25 61
19911250 2010
2
Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations. 25
30900782 2019
3
Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene. 25
30679003 2019
4
Congenital Titinopathy: Comprehensive characterization and pathogenic insights. 25
29691892 2018
5
TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations. 25
29457785 2018
6
Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy. 25
27796757 2017
7
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 25
28349240 2017
8
Re-evaluation of the phenotype caused by the common MATR3 p.Ser85Cys mutation in a new family. 25
25952333 2016
9
Timing, rates and spectra of human germline mutation. 25
26656846 2016
10
CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy. 25
25877298 2015
11
Atypical phenotypes in titinopathies explained by second titin mutations. 25
24395473 2014
12
Spanish MYH7 founder mutation of Italian ancestry causing a large cluster of Laing myopathy patients. 25
21395566 2012
13
MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy. 25
20733148 2010
14
Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD). 25
18948003 2008
15
Myotilinopathy in a family with late onset myopathy. 25
16793270 2006
16
Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J. 25
15728284 2005
17
Tibial muscular dystrophy in a Belgian family. 25
12891679 2003
18
Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. 25
12145747 2002
19
Tibial muscular dystrophy. Late adult-onset distal myopathy in 66 Finnish patients. 25
8503797 1993
20
Distal myopathies. 61
16155432 2005
21
Udd Distal Myopathy – Tibial Muscular Dystrophy 61
20301498 2005
22
Distal myopathies. 61
10787109 2000

Variations for Udd Distal Myopathy - Tibial Muscular Dystrophy

Expression for Udd Distal Myopathy - Tibial Muscular Dystrophy

Search GEO for disease gene expression data for Udd Distal Myopathy - Tibial Muscular Dystrophy.

Pathways for Udd Distal Myopathy - Tibial Muscular Dystrophy

GO Terms for Udd Distal Myopathy - Tibial Muscular Dystrophy

Sources for Udd Distal Myopathy - 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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