MCID: WLN001
MIFTS: 27

Welander Distal Myopathy malady

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Muscle diseases

Aliases & Classifications for Welander Distal Myopathy

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Sources:
50OMIM, 23GeneTests, 52Orphanet, 68UniProtKB/Swiss-Prot, 12diseasecard, 66UMLS, 67UMLS via Orphanet, 29ICD10 via Orphanet, 38MESH via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Welander Distal Myopathy:

Name: Welander Distal Myopathy 50 23 68 12 66
Wdm 52 68
Wdm, Muscular Dystrophy, Distal, Late-Onset, Autosomal Dominant, Myopathy, Distal, Swedish 23
 
Late-Onset Autosomal Dominant Distal Muscular Dystrophy 68
Distal Myopathy, Welander Type 52
Swedish Distal Myopathy 68

Characteristics:

Orphanet epidemiological data:

52
wdm:
Inheritance: Autosomal dominant; Prevalence: >1/1000 (Sweden); Age of onset: Adult; Age of death: normal life expectancy

HPO:

62
welander distal myopathy:
Inheritance: autosomal dominant inheritance, autosomal recessive inheritance
Onset and clinical course: slow progression


Classifications:



External Ids:

OMIM50 604454
Orphanet52 ORPHA603
UMLS via Orphanet67 C2931290
ICD10 via Orphanet29 G71.0
MESH via Orphanet38 C536690
MedGen35 C0221054
MeSH37 D049310

Summaries for Welander Distal Myopathy

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OMIM:50 Welander distal myopathy is an autosomal dominant disorder characterized by adult onset of distal muscle weakness... (604454) more...

MalaCards based summary: Welander Distal Myopathy, also known as wdm, is related to welander distal myopathy, swedish type and liang distal myopathy, and has symptoms including myopathy, distal muscle weakness and steppage gait. An important gene associated with Welander Distal Myopathy is TIA1 (TIA1 Cytotoxic Granule Associated RNA Binding Protein). Affiliated tissues include skeletal muscle.

UniProtKB/Swiss-Prot:68 Welander distal myopathy: An autosomal dominant disorder characterized by adult onset of distal muscle weakness predominantly affecting the distal long extensors of the hands, with slow progression to involve all small hand muscles and the lower legs. Skeletal muscle biopsy shows myopathic changes and prominent rimmed vacuoles. Rare homozygous patients showed earlier onset, faster progression, and proximal muscle involvement.

Related Diseases for Welander Distal Myopathy

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Diseases related to Welander Distal Myopathy via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1welander distal myopathy, swedish type12.3
2liang distal myopathy11.2
3myopathy10.5
4inclusion body myositis10.1
5myositis10.1
6adult malignant hemangiopericytoma9.7DYSF, TIA1
7welander distal myopathy8.6DYSF, TIA1, WDM

Graphical network of diseases related to Welander Distal Myopathy:



Diseases related to welander distal myopathy

Symptoms for Welander Distal Myopathy

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Symptoms by clinical synopsis from OMIM:

604454

Clinical features from OMIM:

604454

Symptoms:

 52
  • myopathy

HPO human phenotypes related to Welander Distal Myopathy:

(show all 6)
id Description Frequency HPO Source Accession
1 myopathy hallmark (90%) HP:0003198
2 distal muscle weakness HP:0002460
3 steppage gait HP:0003376
4 distal amyotrophy HP:0003693
5 rimmed vacuoles HP:0003805
6 mildly elevated creatine phosphokinase HP:0008180

UMLS symptoms related to Welander Distal Myopathy:


myalgia, gait, drop foot

Drugs & Therapeutics for Welander Distal Myopathy

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Drugs for Welander Distal Myopathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Silicon887440-21-34082203
Synonyms:
Si
 
Silica
Silicate
Silicic acid

Interventional clinical trials:

idNameStatusNCT IDPhase
1The Clinical and Subjective Performance of Three Different MPDS With Silicon Hydrogel LensesCompletedNCT01665612
2A Case Control Study of the Prevalence of Pulmonary Hypertension in Patients With Myeloproliferative Diseases.RecruitingNCT01884974

Search NIH Clinical Center for Welander Distal Myopathy

Genetic Tests for Welander Distal Myopathy

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Genetic tests related to Welander Distal Myopathy:

id Genetic test Affiliating Genes
1 Welander Distal Myopathy23 TIA1

Anatomical Context for Welander Distal Myopathy

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MalaCards organs/tissues related to Welander Distal Myopathy:

34
Skeletal muscle

Animal Models for Welander Distal Myopathy or affiliated genes

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Publications for Welander Distal Myopathy

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Articles related to Welander Distal Myopathy:

idTitleAuthorsYear
1
Welander distal myopathy caused by an ancient founder mutation in TIA1 associated with perturbed splicing. (23348830)
2013
2
Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1. (23401021)
2012
3
Refined mapping of the Welander distal myopathy region on chromosome 2p13 positions the new candidate region telomeric of the DYSF locus. (12836053)
2003
4
Welander distal myopathy outside the Swedish population: phenotype and genotype. (12117477)
2002
5
Genetic linkage of Welander distal myopathy to chromosome 2p13. (10482271)
1999
6
Welander distal myopathy--an overview. (9608565)
1998
7
Welander distal myopathy is not linked to other defined distal myopathy gene loci. (9196908)
1997
8
Distribution of muscle degeneration in Welander distal myopathy--a magnetic resonance imaging and muscle biopsy study. (8173352)
1994
9
Inclusion body myositis and Welander distal myopathy: a clinical, neurophysiological and morphological comparison. (1650819)
1991

Variations for Welander Distal Myopathy

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UniProtKB/Swiss-Prot genetic disease variations for Welander Distal Myopathy:

68
id Symbol AA change Variation ID SNP ID
1TIA1p.Glu384LysVAR_069897rs747068278

Expression for genes affiliated with Welander Distal Myopathy

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Search GEO for disease gene expression data for Welander Distal Myopathy.

Pathways for genes affiliated with Welander Distal Myopathy

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GO Terms for genes affiliated with Welander Distal Myopathy

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Sources for Welander Distal Myopathy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet