WDM
MCID: WLN001
MIFTS: 27

Welander Distal Myopathy (WDM) malady

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

Aliases & Classifications for Welander Distal Myopathy

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Sources:
12diseasecard, 24GeneTests, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Welander Distal Myopathy:

Name: Welander Distal Myopathy 52 24 70 12 68
Wdm 54 70
Wdm, Muscular Dystrophy, Distal, Late-Onset, Autosomal Dominant, Myopathy, Distal, Swedish 24
 
Late-Onset Autosomal Dominant Distal Muscular Dystrophy 70
Distal Myopathy, Welander Type 54
Swedish Distal Myopathy 70

Characteristics:

Orphanet epidemiological data:

54
wdm:
Inheritance: Autosomal dominant; Prevalence: >1/1000 (Sweden); Age of onset: Adult; Age of death: normal life expectancy

HPO:

64
welander distal myopathy:
Inheritance: autosomal dominant inheritance, autosomal recessive inheritance
Onset and clinical course: adult onset, slow progression

Classifications:



External Ids:

OMIM52 604454
Orphanet54 ORPHA603
MESH via Orphanet40 C536690
ICD10 via Orphanet31 G71.0
UMLS via Orphanet69 C2931290
MedGen37 C0221054
MeSH39 D049310

Summaries for Welander Distal Myopathy

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OMIM:52 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 myalgia, Array and distal muscle weakness. 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:70 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 type12.1
2liang distal myopathy11.0
3myopathy10.4
4inclusion body myositis9.9
5myositis9.9
6cd8 deficiency, familial9.8DYSF, TIA1

Graphical network of diseases related to Welander Distal Myopathy:



Diseases related to welander distal myopathy

Symptoms & Phenotypes for Welander Distal Myopathy

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Symptoms by clinical synopsis from OMIM:

604454

Clinical features from OMIM:

604454

Human phenotypes related to Welander Distal Myopathy:

 54 64 (show all 6)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 myopathy64 54 Very frequent (99-80%) HP:0003198
2 distal muscle weakness64 HP:0002460
3 steppage gait64 HP:0003376
4 distal amyotrophy64 HP:0003693
5 rimmed vacuoles64 HP:0003805
6 mildly elevated creatine phosphokinase64 HP:0008180

UMLS symptoms related to Welander Distal Myopathy:


myalgia

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
1Trace Elements6001
2
Silicon1037440-21-34082203
Synonyms:
Si
 
Silica
Silicate
Silicic acid
3Pharmaceutical Solutions8192
4Micronutrients6001

Interventional clinical trials:

idNameStatusNCT IDPhase
1A Case Control Study of the Prevalence of Pulmonary Hypertension in Patients With Myeloproliferative Diseases.Unknown statusNCT01884974
2The Clinical and Subjective Performance of Three Different MPDS With Silicon Hydrogel LensesCompletedNCT01665612

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 Myopathy24 TIA1

Anatomical Context for Welander Distal Myopathy

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MalaCards organs/tissues related to Welander Distal Myopathy:

36
Skeletal muscle

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:

70
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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet