MCID: DST013
MIFTS: 17

Distal Myopathy with Vocal Cord Weakness

Categories: Rare diseases, Genetic diseases

Aliases & Classifications for Distal Myopathy with Vocal Cord Weakness

MalaCards integrated aliases for Distal Myopathy with Vocal Cord Weakness:

Name: Distal Myopathy with Vocal Cord Weakness 50 25
Distal Myopathy 2 50 24 25
Myopathy, Distal, 2 50 29
Myopathy, Distal 2 13 69
Mpd2 50 25
Vocal Cord and Pharyngeal Dysfunction with Distal Myopathy 24
Vocal Cord and Pharyngeal Weakness with Distal Myopathy 25
Distal Myopathy with Vocal Cord and Pharyngeal Signs 25
Myopathia Distalis Type 2 25
Matrin 3 Distal Myopathy 25
Vcpdm 25

Classifications:



Summaries for Distal Myopathy with Vocal Cord Weakness

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 600disease definitiondistal myopathy with vocal cord and pharyngeal weakness is an adult-onset, autosomal dominant muscular disease which is characterized by muscle weakness in the feet and hands, combined with vocal or swallowing dysfunction.visit the orphanet disease page for more resources. last updated: 1/1/2014

MalaCards based summary : Distal Myopathy with Vocal Cord Weakness, also known as distal myopathy 2, is related to amyotrophic lateral sclerosis 21 and pharyngitis. An important gene associated with Distal Myopathy with Vocal Cord Weakness is MATR3 (Matrin 3). The drugs Silicon and Micronutrients have been mentioned in the context of this disorder.

Genetics Home Reference : 25 Distal myopathy 2 is a condition characterized by weakness of specific muscles that begins in adulthood. It is a form of muscular dystrophy that specifically involves muscles in the throat, lower legs, and forearms. Muscles farther from the center of the body, like the muscles of the lower legs and forearms, are known as distal muscles.

Related Diseases for Distal Myopathy with Vocal Cord Weakness

Diseases related to Distal Myopathy with Vocal Cord Weakness via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 amyotrophic lateral sclerosis 21 11.5
2 pharyngitis 10.1
3 myopathy 10.1

Symptoms & Phenotypes for Distal Myopathy with Vocal Cord Weakness

Drugs & Therapeutics for Distal Myopathy with Vocal Cord Weakness

Drugs for Distal Myopathy with Vocal Cord Weakness (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


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

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 The Clinical and Subjective Performance of Three Different MPDS With Silicon Hydrogel Lenses Completed NCT01665612

Search NIH Clinical Center for Distal Myopathy with Vocal Cord Weakness

Genetic Tests for Distal Myopathy with Vocal Cord Weakness

Genetic tests related to Distal Myopathy with Vocal Cord Weakness:

id Genetic test Affiliating Genes
1 Myopathy, Distal, 2 29
2 Distal Myopathy 2 24 MATR3

Anatomical Context for Distal Myopathy with Vocal Cord Weakness

Publications for Distal Myopathy with Vocal Cord Weakness

Variations for Distal Myopathy with Vocal Cord Weakness

ClinVar genetic disease variations for Distal Myopathy with Vocal Cord Weakness:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MATR3 NM_018834.5(MATR3): c.254C> G (p.Ser85Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121434591 GRCh37 Chromosome 5, 138643358: 138643358
2 MATR3 NM_199189.2(MATR3): c.344T> G (p.Phe115Cys) single nucleotide variant Pathogenic rs587777300 GRCh38 Chromosome 5, 139307759: 139307759
3 MATR3 NM_199189.2(MATR3): c.1864A> G (p.Thr622Ala) single nucleotide variant Pathogenic rs587777301 GRCh38 Chromosome 5, 139322683: 139322683
4 MATR3 NM_199189.2(MATR3): c.460C> T (p.Pro154Ser) single nucleotide variant Pathogenic rs587777302 GRCh38 Chromosome 5, 139307875: 139307875

Expression for Distal Myopathy with Vocal Cord Weakness

Search GEO for disease gene expression data for Distal Myopathy with Vocal Cord Weakness.

Pathways for Distal Myopathy with Vocal Cord Weakness

GO Terms for Distal Myopathy with Vocal Cord Weakness

Sources for Distal Myopathy with Vocal Cord Weakness

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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