MCID: WLN001
MIFTS: 30

Welander Distal Myopathy

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

Aliases & Classifications for Welander Distal Myopathy

MalaCards integrated aliases for Welander Distal Myopathy:

Name: Welander Distal Myopathy 57 75 37 29 13 6 73
Wdm 57 59 75
Muscular Dystrophy, Distal, Late-Onset, Autosomal Dominant 57
Late-Onset Autosomal Dominant Distal Muscular Dystrophy 75
Distal Myopathy, Welander Type 59
Myopathy, Distal, Welander 40
Myopathy, Distal, Swedish 57
Swedish Distal Myopathy 75

Characteristics:

Orphanet epidemiological data:

59
distal myopathy, welander type
Inheritance: Autosomal dominant; Prevalence: >1/1000 (Sweden); Age of onset: Adult; Age of death: normal life expectancy;

OMIM:

57
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:

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


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 604454
Orphanet 59 ORPHA603
MESH via Orphanet 45 C536690
ICD10 via Orphanet 34 G71.0
UMLS via Orphanet 74 C0221054 C2931290
MedGen 42 C0221054
MeSH 44 D049310
KEGG 37 H01975
UMLS 73 C0221054

Summaries for Welander Distal Myopathy

OMIM : 57 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 myalgia 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, and related phenotypes are myopathy and mildly elevated creatine phosphokinase

UniProtKB/Swiss-Prot : 75 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 29.2 DYSF TIA1
2 welander distal myopathy, swedish type 12.4
3 myopathy, distal, 1 11.2
4 distal muscular dystrophy 10.5
5 inclusion body myositis 10.0
6 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:

57
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:

59 32 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 myopathy 59 32 hallmark (90%) 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):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Silicon Approved, Investigational Not Applicable 7440-21-3 4082203
2 Micronutrients Not Applicable
3 Pharmaceutical Solutions Not Applicable
4 Trace Elements Not Applicable

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 Not Applicable

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 29 TIA1

Anatomical Context for Welander Distal Myopathy

MalaCards organs/tissues related to Welander Distal Myopathy:

41
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:

75
# Symbol AA change Variation ID SNP ID
1 TIA1 p.Glu384Lys VAR_069897 rs747068278

ClinVar genetic disease variations for Welander Distal Myopathy:

6
(show all 32)
# 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
2 TIA1 NM_022173.2(TIA1): c.1150G> A (p.Glu384Lys) single nucleotide variant Pathogenic rs747068278 GRCh38 Chromosome 2, 70212730: 70212730
3 TIA1 NM_022173.2(TIA1): c.1070A> G (p.Asn357Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs116621885 GRCh38 Chromosome 2, 70212810: 70212810
4 TIA1 NM_022173.2(TIA1): c.1070A> G (p.Asn357Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs116621885 GRCh37 Chromosome 2, 70439942: 70439942
5 TIA1 NM_022173.2(TIA1): c.953A> G (p.Gln318Arg) single nucleotide variant Benign rs115611153 GRCh37 Chromosome 2, 70441562: 70441562
6 TIA1 NM_022173.2(TIA1): c.953A> G (p.Gln318Arg) single nucleotide variant Benign rs115611153 GRCh38 Chromosome 2, 70214430: 70214430
7 TIA1 NM_022173.3(TIA1): c.1086G> A (p.Pro362=) single nucleotide variant Benign rs72902461 GRCh38 Chromosome 2, 70212794: 70212794
8 TIA1 NM_022173.3(TIA1): c.1086G> A (p.Pro362=) single nucleotide variant Benign rs72902461 GRCh37 Chromosome 2, 70439926: 70439926
9 TIA1 NM_022173.3(TIA1): c.947C> G (p.Ala316Gly) single nucleotide variant Benign rs116828570 GRCh38 Chromosome 2, 70214436: 70214436
10 TIA1 NM_022173.3(TIA1): c.947C> G (p.Ala316Gly) single nucleotide variant Benign rs116828570 GRCh37 Chromosome 2, 70441568: 70441568
11 TIA1 NM_022173.3(TIA1): c.223-3T> A single nucleotide variant Uncertain significance rs750261656 GRCh37 Chromosome 2, 70456453: 70456453
12 TIA1 NM_022173.3(TIA1): c.223-3T> A single nucleotide variant Uncertain significance rs750261656 GRCh38 Chromosome 2, 70229321: 70229321
13 TIA1 NM_022173.3(TIA1): c.1156delC (p.Gln386Serfs) deletion Uncertain significance GRCh37 Chromosome 2, 70439856: 70439856
14 TIA1 NM_022173.3(TIA1): c.1156delC (p.Gln386Serfs) deletion Uncertain significance GRCh38 Chromosome 2, 70212724: 70212724
15 TIA1 NM_022173.3(TIA1): c.978T> C (p.Gly326=) single nucleotide variant Benign rs78236170 GRCh38 Chromosome 2, 70214405: 70214405
16 TIA1 NM_022173.3(TIA1): c.978T> C (p.Gly326=) single nucleotide variant Benign rs78236170 GRCh37 Chromosome 2, 70441537: 70441537
17 TIA1 NM_022173.3(TIA1): c.75A> G (p.Gln25=) single nucleotide variant Benign rs114952383 GRCh37 Chromosome 2, 70463259: 70463259
18 TIA1 NM_022173.3(TIA1): c.75A> G (p.Gln25=) single nucleotide variant Benign rs114952383 GRCh38 Chromosome 2, 70236127: 70236127
19 TIA1 NM_022173.3(TIA1): c.1122G> A (p.Gln374=) single nucleotide variant Benign rs76710635 GRCh37 Chromosome 2, 70439890: 70439890
20 TIA1 NM_022173.3(TIA1): c.1122G> A (p.Gln374=) single nucleotide variant Benign rs76710635 GRCh38 Chromosome 2, 70212758: 70212758
21 TIA1 NM_022173.3(TIA1): c.924G> A (p.Gln308=) single nucleotide variant Benign rs79075815 GRCh37 Chromosome 2, 70441591: 70441591
22 TIA1 NM_022173.3(TIA1): c.924G> A (p.Gln308=) single nucleotide variant Benign rs79075815 GRCh38 Chromosome 2, 70214459: 70214459
23 TIA1 NM_022173.3(TIA1): c.475-3C> T single nucleotide variant Uncertain significance rs200499196 GRCh37 Chromosome 2, 70444129: 70444129
24 TIA1 NM_022173.3(TIA1): c.475-3C> T single nucleotide variant Uncertain significance rs200499196 GRCh38 Chromosome 2, 70216997: 70216997
25 TIA1 NM_022173.3(TIA1): c.33C> T (p.Val11=) single nucleotide variant Likely benign rs761527779 GRCh38 Chromosome 2, 70236169: 70236169
26 TIA1 NM_022173.3(TIA1): c.33C> T (p.Val11=) single nucleotide variant Likely benign rs761527779 GRCh37 Chromosome 2, 70463301: 70463301
27 TIA1 NM_022173.3(TIA1): c.311A> T (p.Asp104Val) single nucleotide variant Uncertain significance rs143209672 GRCh37 Chromosome 2, 70454954: 70454954
28 TIA1 NM_022173.3(TIA1): c.1082A> C (p.Gln361Pro) single nucleotide variant Uncertain significance rs556545503 GRCh37 Chromosome 2, 70439930: 70439930
29 TIA1 NM_022173.3(TIA1): c.1082A> C (p.Gln361Pro) single nucleotide variant Uncertain significance rs556545503 GRCh38 Chromosome 2, 70212798: 70212798
30 TIA1 NM_022173.3(TIA1): c.311A> T (p.Asp104Val) single nucleotide variant Uncertain significance rs143209672 GRCh38 Chromosome 2, 70227822: 70227822
31 TIA1 NM_022173.3(TIA1): c.764+10G> A single nucleotide variant Likely benign rs547201931 GRCh37 Chromosome 2, 70443330: 70443330
32 TIA1 NM_022173.3(TIA1): c.764+10G> A single nucleotide variant Likely benign rs547201931 GRCh38 Chromosome 2, 70216198: 70216198

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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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