Details of Disease

General Information of Disease (ID: DISM5DNL)

Disease Name Distal myopathy, Welander type
Synonyms distal myopathy, Swedish type; Welander distal myopathy, Swedish type; Welander distal myopathy; myopathy, distal, Swedish; muscular dystrophy, distal, late-onset, autosomal dominant; WDM
Definition
Welander distal myopathy (WDM) is a distal myopathy, characterized by weakness in the distal upper extremities, usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremity, primarily in toe and ankle extensors.
Disease Hierarchy
DISFMEP5: Autosomal dominant distal myopathy
DISM5DNL: Distal myopathy, Welander type
Disease Identifiers
MONDO ID
MONDO_0011466
MESH ID
D049310
UMLS CUI
C0221054
OMIM ID
604454
MedGen ID
67441
Orphanet ID
603

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
SQSTM1 TTOT2RY Limited GermlineModifyingMutation [1]
DYSF TTA7MXQ Strong Biomarker [2]
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This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
C2orf42 OTN1MSWZ Limited CausalMutation [3]
PSMG3 OT0TJQYZ Strong Biomarker [2]
TIA1 OTGPN3P8 Strong Autosomal dominant [4]
TTN OT0LZ058 Strong Biomarker [5]
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References

1 TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations.J Clin Invest. 2018 Mar 1;128(3):1164-1177. doi: 10.1172/JCI97103. Epub 2018 Feb 19.
2 Refined mapping of the Welander distal myopathy region on chromosome 2p13 positions the new candidate region telomeric of the DYSF locus.Neurogenetics. 2003 Aug;4(4):173-7. doi: 10.1007/s10048-003-0154-z. Epub 2003 Jun 27.
3 TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics.Neuron. 2017 Aug 16;95(4):808-816.e9. doi: 10.1016/j.neuron.2017.07.025.
4 Welander distal myopathy caused by an ancient founder mutation in TIA1 associated with perturbed splicing. Hum Mutat. 2013 Apr;34(4):572-7. doi: 10.1002/humu.22282.
5 Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin.Am J Hum Genet. 2002 Sep;71(3):492-500. doi: 10.1086/342380. Epub 2002 Jul 26.