WDM
MCID: WLN001
MIFTS: 34

Welander Distal Myopathy (WDM)

Categories: Bone diseases, 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 58 76 38 30 13 6 74
Wdm 58 60 76
Muscular Dystrophy, Distal, Late-Onset, Autosomal Dominant 58
Late-Onset Autosomal Dominant Distal Muscular Dystrophy 76
Distal Myopathy, Welander Type 60
Myopathy, Distal, Welander 41
Myopathy, Distal, Swedish 58
Swedish Distal Myopathy 76

Characteristics:

Orphanet epidemiological data:

60
distal myopathy, welander type
Inheritance: Autosomal dominant; Prevalence: >1/1000 (Sweden); Age of onset: Adult; Age of death: normal life expectancy;

OMIM:

58
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:

33
welander distal myopathy:
Onset and clinical course adult onset slow progression
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

OMIM 58 604454
KEGG 38 H01975
MeSH 45 D049310
MESH via Orphanet 46 C536690
ICD10 via Orphanet 35 G71.0
UMLS via Orphanet 75 C0221054 C2931290
Orphanet 60 ORPHA603
MedGen 43 C0221054
UMLS 74 C0221054

Summaries for Welander Distal Myopathy

OMIM : 58 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 welander distal myopathy, swedish type and myopathy, distal, 1, and has symptoms including myalgia An important gene associated with Welander Distal Myopathy is TIA1 (TIA1 Cytotoxic Granule Associated RNA Binding Protein). Affiliated tissues include pons, skeletal muscle and testes, and related phenotypes are myopathy and rimmed vacuoles

UniProtKB/Swiss-Prot : 76 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:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 welander distal myopathy, swedish type 12.6
2 myopathy, distal, 1 11.4
3 distal myopathy with vocal cord weakness 11.3
4 miyoshi muscular dystrophy 10.7
5 myopathy 10.7
6 polymyositis 10.3
7 pelizaeus-merzbacher disease 10.2
8 inclusion body myositis 10.1
9 myositis 10.1
10 muscle disorders 10.1
11 coffin-lowry syndrome 10.1
12 autoimmune progesterone dermatitis 10.1

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



Diseases related to Welander Distal Myopathy

Symptoms & Phenotypes for Welander Distal Myopathy

Human phenotypes related to Welander Distal Myopathy:

60 33 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 myopathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0003198
2 rimmed vacuoles 33 HP:0003805
3 distal muscle weakness 33 HP:0002460
4 steppage gait 33 HP:0003376
5 distal amyotrophy 33 HP:0003693
6 mildly elevated creatine kinase 33 HP:0008180

Symptoms via clinical synopsis from OMIM:

58
Muscle Soft Tissue:
rimmed vacuoles
steppage gait
muscle weakness, distal
walking difficulties
muscle atrophy, distal
more
Laboratory Abnormalities:
mildly increased serum creatine kinase

Clinical features from OMIM:

604454

UMLS symptoms related to Welander Distal Myopathy:


myalgia

Drugs & Therapeutics for Welander Distal Myopathy

Search Clinical Trials , 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 30 TIA1

Anatomical Context for Welander Distal Myopathy

MalaCards organs/tissues related to Welander Distal Myopathy:

42
Pons, Skeletal Muscle, Testes, T Cells

Publications for Welander Distal Myopathy

Articles related to Welander Distal Myopathy:

(show top 50) (show all 286)
# Title Authors Year
1
Ring resonator based polarization diversity WDM receiver. ( 30876207 )
2019
2
A heterologous cell model for studying the role of T-cell intracellular antigen 1 in Welander distal myopathy. ( 30348840 )
2018
3
Linear optical sampling technique for simultaneously characterizing WDM signals with a single receiving channel. ( 29401933 )
2018
4
Scalable WDM phase regeneration in a single phase-sensitive amplifier through optical time lenses. ( 29535308 )
2018
5
Integrated flexible-grid WDM transmitter using an optical frequency comb in microring modulators. ( 29601028 )
2018
6
Statistical analysis of nonlinear coupling in a WDM system over a two mode fiber. ( 29609348 )
2018
7
18  km low-crosstalk OAM + WDM transmission with 224 individual channels enabled by a ring-core fiber with large high-order mode group separation. ( 29652391 )
2018
8
300 Gb/s IM/DD based SDM-WDM-PON with laserless ONUs. ( 29715769 )
2018
9
Raman-enhanced optical phase conjugator in WDM transmission systems. ( 29715966 )
2018
10
CMOS plasmonics in WDM data transmission: 200 Gb/s (8 × 25Gb/s) transmission over aluminum plasmonic waveguides. ( 29801284 )
2018
11
Carrier regeneration from a blockwise phase-switching signal for a frequency comb-based WDM system. ( 30067657 )
2018
12
Si-based Mach-Zehnder wavelength/mode multi/demultiplexer for a WDM/MDM transmission system. ( 30114771 )
2018
13
12 mode, WDM, MIMO-free orbital angular momentum transmission. ( 30119335 )
2018
14
Polymer waveguide WDM channel selector operating over the entire C and L bands. ( 30119465 )
2018
15
Photonic crystal-based compact hybrid WDM/MDM (De)multiplexer for SOI platforms. ( 30160745 )
2018
16
Prescription of wavelength-dependent spot size relations of a broadband laser diode in the context of uniformly maximum lens excitation of WDM signals. ( 30461885 )
2018
17
Experimental demonstration of 50 Gb/s (2 × 25 Gb/s) TDM/WDM PON over 64-way power split using O-band up/down transmission over 20 km with dynamic bandwidth allocation and SDN control. ( 30469619 )
2018
18
8-channel WDM silicon photonics transceiver with SOA and semiconductor mode-locked laser. ( 30469646 )
2018
19
Impact of fiber parameters on EDFA and/or Raman amplified high-spectral-efficiency coherent WDM transmissions. ( 30469876 )
2018
20
Whole Exome Sequencing Identifies Atypical Welander Distal Myopathy in Patient. ( 28221306 )
2017
21
42.3 Tbit/s, 18 Gbaud 64 QAM WDM coherent transmission over 160 km in the C-band using an injection-locked homodyne receiver with a spectral efficiency of 9 bit/s/Hz. ( 29041579 )
2017
22
10-m 9.51-Gb/s RGB laser diodes-based WDM underwater wireless optical communication. ( 29041760 )
2017
23
DBPSK and DQPSK crosstalk in single-span WDM systems using DRA. ( 29047519 )
2017
24
Simultaneous four-channel thermal adaptation of polarization insensitive silicon photonics WDM receiver. ( 29092192 )
2017
25
2.38 Kbits/frame WDM transmission over a CVLC system with sampling reconstruction for SFO mitigation. ( 29221084 )
2017
26
Integrated wavelength conversion for adaptively modulated WDM-OFDM signals in a silicon waveguide. ( 29245816 )
2017
27
Fiber nonlinearity mitigation of WDM-PDM QPSK/16-QAM signals using fiber-optic parametric amplifiers based multiple optical phase conjugations. ( 29519016 )
2017
28
All-optical Nyquist-OTDM to Nyquist-WDM conversion for high-granular flexible optical networks. ( 28241563 )
2017
29
Bidirectional UWB over fiber for WDM-PON system. ( 28381026 )
2017
30
Ultra-high capacity WDM-SDM optical access network with self-homodyne detection downstream and 32QAM-FBMC upstream. ( 28381065 )
2017
31
Athermal synchronization of laser source with WDM filter in a silicon photonics platform. ( 28611487 )
2017
32
Carrier-phase-estimation algorithm featuring fast trackability for high-speed coherent WDM PON based on RSOA. ( 28789013 )
2017
33
1 Gbps full-duplex links for ultra-dense-WDM 6.25 GHz frequency slots in optical metro-access networks. ( 26832286 )
2016
34
All-optical OXC transition strategy from WDM optical network to elastic optical network. ( 26907058 )
2016
35
Optical diversity transmission using WDM signal and phase-conjugate lights through multi-core fiber. ( 27137550 )
2016
36
Experimental demonstration of tunable homodyne detection of WDM and dual-polarization PSK channels by automatically locking the channels to a local pump laser using nonlinear mixing. ( 27304262 )
2016
37
150  m/280  Gbps WDM/SDM FSO link based on OEO-based BLS and afocal telescopes. ( 27304301 )
2016
38
Using single side-band modulation for colorless OFDM-WDM access network to alleviate Rayleigh backscattering effects. ( 27409910 )
2016
39
Error-free operation of a polarization-insensitive 4λ x 25 Gbps silicon photonic WDM receiver with closed-loop thermal stabilization of Si microrings. ( 27410337 )
2016
40
Generation of highly stable WDM time-bin entanglement by cascaded sum-frequency generation and spontaneous parametric downconversion in a PPLN waveguide device. ( 27557236 )
2016
41
Demonstration of all-optical MDM/WDM switching for short-reach networks. ( 27661899 )
2016
42
3.375-Gb/s RGB-LED based WDM visible light communication system employing PAM-8 modulation with phase shifted Manchester coding. ( 27661904 )
2016
43
Sub-symbol-rate sampling for PDM-QPSK signals in super-Nyquist WDM systems using quadrature poly-binary shaping. ( 27857398 )
2016
44
Flexible terabit/s Nyquist-WDM super-channels using a gain-switched comb source. ( 25835832 )
2015
45
Optical chaos and hybrid WDM/TDM based large capacity quasi-distributed sensing network with real-time fiber fault monitoring. ( 25836109 )
2015
46
100 Gbit/s WDM transmission at 2 µm: transmission studies in both low-loss hollow core photonic bandgap fiber and solid core fiber. ( 25836529 )
2015
47
Feed-forward carrier phase recovery for offset-QAM Nyquist WDM transmission. ( 25836843 )
2015
48
Broad baseband nonlinear distortion mitigation using digital pre- and post-distortion in OFDM-based WDM LR-PON. ( 25837051 )
2015
49
Adaptive quadrature-polybinary detection in super-Nyquist WDM systems. ( 25837130 )
2015
50
Demonstration of digital fronthaul over self-seeded WDM-PON in commercial LTE environment. ( 25969282 )
2015

Variations for Welander Distal Myopathy

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

76
# 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 40)
# 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.223-3T> A single nucleotide variant Uncertain significance rs750261656 GRCh37 Chromosome 2, 70456453: 70456453
10 TIA1 NM_022173.3(TIA1): c.223-3T> A single nucleotide variant Uncertain significance rs750261656 GRCh38 Chromosome 2, 70229321: 70229321
11 TIA1 NM_022173.3(TIA1): c.947C> G (p.Ala316Gly) single nucleotide variant Benign rs116828570 GRCh38 Chromosome 2, 70214436: 70214436
12 TIA1 NM_022173.3(TIA1): c.947C> G (p.Ala316Gly) single nucleotide variant Benign rs116828570 GRCh37 Chromosome 2, 70441568: 70441568
13 TIA1 NM_022173.3(TIA1): c.1156delC (p.Gln386Serfs) deletion Uncertain significance rs1553422555 GRCh37 Chromosome 2, 70439856: 70439856
14 TIA1 NM_022173.3(TIA1): c.1156delC (p.Gln386Serfs) deletion Uncertain significance rs1553422555 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 GRCh37 Chromosome 2, 70463301: 70463301
26 TIA1 NM_022173.3(TIA1): c.33C> T (p.Val11=) single nucleotide variant Likely benign rs761527779 GRCh38 Chromosome 2, 70236169: 70236169
27 TIA1 NM_022173.3(TIA1): c.1082A> C (p.Gln361Pro) single nucleotide variant Uncertain significance rs556545503 GRCh37 Chromosome 2, 70439930: 70439930
28 TIA1 NM_022173.3(TIA1): c.1082A> C (p.Gln361Pro) single nucleotide variant Uncertain significance rs556545503 GRCh38 Chromosome 2, 70212798: 70212798
29 TIA1 NM_022173.3(TIA1): c.311A> T (p.Asp104Val) single nucleotide variant Uncertain significance rs143209672 GRCh38 Chromosome 2, 70227822: 70227822
30 TIA1 NM_022173.3(TIA1): c.311A> T (p.Asp104Val) single nucleotide variant Uncertain significance rs143209672 GRCh37 Chromosome 2, 70454954: 70454954
31 TIA1 NM_022173.3(TIA1): c.764+10G> A single nucleotide variant Likely benign rs547201931 GRCh38 Chromosome 2, 70216198: 70216198
32 TIA1 NM_022173.3(TIA1): c.764+10G> A single nucleotide variant Likely benign rs547201931 GRCh37 Chromosome 2, 70443330: 70443330
33 TIA1 NM_022173.3(TIA1): c.880G> A (p.Val294Met) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 70215379: 70215379
34 TIA1 NM_022173.3(TIA1): c.880G> A (p.Val294Met) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 70442511: 70442511
35 TIA1 NM_022173.3(TIA1): c.869T> C (p.Met290Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 70215390: 70215390
36 TIA1 NM_022173.3(TIA1): c.869T> C (p.Met290Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 70442522: 70442522
37 TIA1 NM_022173.3(TIA1): c.422T> C (p.Met141Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 70451738: 70451738
38 TIA1 NM_022173.3(TIA1): c.422T> C (p.Met141Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 70224606: 70224606
39 TIA1 NM_022173.3(TIA1): c.380C> T (p.Ala127Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 70454885: 70454885
40 TIA1 NM_022173.3(TIA1): c.380C> T (p.Ala127Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 70227753: 70227753

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....