MCID: WLN001
MIFTS: 30

Welander Distal Myopathy

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

Aliases & Classifications for Welander Distal Myopathy

MalaCards integrated aliases for Welander Distal Myopathy:

Name: Welander Distal Myopathy 53 71 36 28 13 69
Wdm 53 55 71
Muscular Dystrophy, Distal, Late-Onset, Autosomal Dominant 53
Late-Onset Autosomal Dominant Distal Muscular Dystrophy 71
Distal Myopathy, Welander Type 55
Myopathy, Distal, Swedish 53
Swedish Distal Myopathy 71

Characteristics:

Orphanet epidemiological data:

55
distal myopathy, welander type
Inheritance: Autosomal dominant; Prevalence: >1/1000 (Sweden); Age of onset: Adult; Age of death: normal life expectancy;

OMIM:

53
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
slowly progressive
adult onset (range 40 to 60 years)
high incidence in sweden and finland
incidence of 1 in 100 in some local nordic areas
homozygotes have earlier onset and a more severe disorder


HPO:

31
welander distal myopathy:
Onset and clinical course adult onset slow progression
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:

Orphanet: 55  
Rare neurological diseases


External Ids:

OMIM 53 604454
Orphanet 55 ORPHA603
MESH via Orphanet 42 C536690
UMLS via Orphanet 70 C2931290 C0221054
ICD10 via Orphanet 33 G71.0
MedGen 39 C0221054
MeSH 41 D049310
KEGG 36 H01975
UMLS 69 C0221054

Summaries for Welander Distal Myopathy

OMIM : 53 Welander distal myopathy is 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. This disorder is common in Sweden and Finland (summary by Hackman et al., 2013). (604454)

MalaCards based summary : Welander Distal Myopathy, also known as wdm, is related to myopathy and welander distal myopathy, swedish type, 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 Micronutrients have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle.

UniProtKB/Swiss-Prot : 71 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:

# Related Disease Score Top Affiliating Genes
1 myopathy 29.8 DYSF TIA1
2 welander distal myopathy, swedish type 12.4
3 myopathy, distal, 1 11.2
4 inclusion body myositis 10.0
5 myositis 10.0

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 via clinical synopsis from OMIM:

53
Muscle Soft Tissue:
steppage gait
rimmed vacuoles
muscle weakness, distal
walking difficulties
muscle atrophy, distal
more
Laboratory Abnormalities:
mildly increased serum creatine kinase


Clinical features from OMIM:

604454

Human phenotypes related to Welander Distal Myopathy:

55 31 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 myopathy 55 31 hallmark (90%) Very frequent (99-80%) HP:0003198
2 mildly elevated creatine phosphokinase 31 HP:0008180
3 distal muscle weakness 31 HP:0002460
4 steppage gait 31 HP:0003376
5 rimmed vacuoles 31 HP:0003805
6 distal amyotrophy 31 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):


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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
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:

# Genetic test Affiliating Genes
1 Welander Distal Myopathy 28 TIA1

Anatomical Context for Welander Distal Myopathy

MalaCards organs/tissues related to Welander Distal Myopathy:

38
Skeletal Muscle

Publications for Welander Distal Myopathy

Articles related to Welander Distal Myopathy:

# Title Authors Year
1
Whole Exome Sequencing Identifies Atypical Welander Distal Myopathy in Patient. ( 28221306 )
2017
2
Welander distal myopathy caused by an ancient founder mutation in TIA1 associated with perturbed splicing. ( 23348830 )
2013
3
Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1. ( 23401021 )
2012
4
Refined mapping of the Welander distal myopathy region on chromosome 2p13 positions the new candidate region telomeric of the DYSF locus. ( 12836053 )
2003
5
Welander distal myopathy outside the Swedish population: phenotype and genotype. ( 12117477 )
2002
6
Genetic linkage of Welander distal myopathy to chromosome 2p13. ( 10482271 )
1999
7
Welander distal myopathy--an overview. ( 9608565 )
1998
8
Welander distal myopathy is not linked to other defined distal myopathy gene loci. ( 9196908 )
1997
9
Distribution of muscle degeneration in Welander distal myopathy--a magnetic resonance imaging and muscle biopsy study. ( 8173352 )
1994
10
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:

71
# Symbol AA change Variation ID SNP ID
1 TIA1 p.Glu384Lys VAR_069897 rs747068278

ClinVar genetic disease variations for Welander Distal Myopathy:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TIA1 NM_022173.2(TIA1): c.1150G> A (p.Glu384Lys) single nucleotide variant Pathogenic rs747068278 GRCh37 Chromosome 2, 70439862: 70439862

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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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