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

Aliases & Descriptions for Welander Distal Myopathy:

Name: Welander Distal Myopathy 54 24 66 13 69
Wdm 56 66
Wdm, Muscular Dystrophy, Distal, Late-Onset, Autosomal Dominant, Myopathy, Distal, Swedish 24
Late-Onset Autosomal Dominant Distal Muscular Dystrophy 66
Distal Myopathy, Welander Type 56
Swedish Distal Myopathy 66

Characteristics:

Orphanet epidemiological data:

56
distal myopathy, welander type
Inheritance: Autosomal dominant; Prevalence: >1/1000 (Sweden); Age of onset: Adult; Age of death: normal life expectancy;

HPO:

32
welander distal myopathy:
Inheritance autosomal recessive inheritance autosomal dominant inheritance
Onset and clinical course adult onset slow progression


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 604454
Orphanet 56 ORPHA603
MESH via Orphanet 43 C536690
ICD10 via Orphanet 34 G71.0
UMLS via Orphanet 70 C2931290
MedGen 40 C0221054
MeSH 42 D049310

Summaries for Welander Distal Myopathy

OMIM : 54 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, mildly elevated creatine phosphokinase and distal muscle weakness. An important gene associated with Welander Distal Myopathy is TIA1 (TIA1 Cytotoxic Granule Associated RNA Binding Protein). The drugs Silicon and Trace Elements have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle.

UniProtKB/Swiss-Prot : 66 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

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

id Related Disease Score Top Affiliating Genes
1 welander distal myopathy, swedish type 12.1
2 liang distal myopathy 11.0
3 myopathy 10.4
4 inclusion body myositis 9.9
5 myositis 9.9
6 cd8 deficiency, familial 9.8 DYSF TIA1

Graphical network of the top 20 diseases related to Welander Distal Myopathy:



Diseases related to Welander Distal Myopathy

Symptoms & Phenotypes for Welander Distal Myopathy

Symptoms by clinical synopsis from OMIM:

604454

Clinical features from OMIM:

604454

Human phenotypes related to Welander Distal Myopathy:

56 32 (show all 6)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 myopathy 56 32 Very frequent (99-80%) HP:0003198
2 mildly elevated creatine phosphokinase 32 HP:0008180
3 distal muscle weakness 32 HP:0002460
4 steppage gait 32 HP:0003376
5 rimmed vacuoles 32 HP:0003805
6 distal amyotrophy 32 HP:0003693

UMLS symptoms related to Welander Distal Myopathy:


myalgia

Drugs & Therapeutics for Welander Distal Myopathy

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Silicon 7440-21-3 4082203
2 Trace Elements
3 Pharmaceutical Solutions
4 Micronutrients

Interventional clinical trials:


id Name Status NCT ID Phase
1 A Case Control Study of the Prevalence of Pulmonary Hypertension in Patients With Myeloproliferative Diseases. Unknown status NCT01884974
2 The Clinical and Subjective Performance of Three Different MPDS With Silicon Hydrogel Lenses Completed NCT01665612

Search NIH Clinical Center for Welander Distal Myopathy

Genetic Tests for Welander Distal Myopathy

Genetic tests related to Welander Distal Myopathy:

id Genetic test Affiliating Genes
1 Welander Distal Myopathy 24 TIA1

Anatomical Context for Welander Distal Myopathy

MalaCards organs/tissues related to Welander Distal Myopathy:

39
Skeletal Muscle

Publications for Welander Distal Myopathy

Articles related to Welander Distal Myopathy:

id Title Authors Year
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

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

66
id Symbol AA change Variation ID SNP ID
1 TIA1 p.Glu384Lys VAR_069897 rs747068278

Expression for Welander Distal Myopathy

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

Pathways for Welander Distal Myopathy

GO Terms for Welander Distal Myopathy

Sources for Welander Distal Myopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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