MDRV
MCID: VCL008
MIFTS: 20

Vacuolar Neuromyopathy (MDRV)

Categories: Muscle diseases, Neuronal diseases

Aliases & Classifications for Vacuolar Neuromyopathy

MalaCards integrated aliases for Vacuolar Neuromyopathy:

Name: Vacuolar Neuromyopathy 57 70
Muscular Dystrophy with Rimmed Vacuoles 57 13
Muscular Dystrophy, Autosomal Dominant, with Rimmed Vacuoles; Mdrv 57
Muscular Dystrophy, Autosomal Dominant, with Rimmed Vacuoles 57
Mdrv 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
adult onset
variable severity
one family has been reported (last curated april 2016)

Inheritance:
autosomal dominant


HPO:

31
vacuolar neuromyopathy:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity adult onset


Classifications:



External Ids:

OMIM® 57 601846
MedGen 41 C1866139
UMLS 70 C1866139

Summaries for Vacuolar Neuromyopathy

MalaCards based summary : Vacuolar Neuromyopathy, also known as muscular dystrophy with rimmed vacuoles, is related to muscular dystrophy and foot drop. An important gene associated with Vacuolar Neuromyopathy is MDRV (Muscular Dystrophy, With Rimmed Vacuoles). Affiliated tissues include skeletal muscle, and related phenotypes are dysphonia and dysphagia

More information from OMIM: 601846

Related Diseases for Vacuolar Neuromyopathy

Diseases related to Vacuolar Neuromyopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy 10.5
2 foot drop 10.4
3 muscular dystrophy, becker type 10.2
4 tibial muscular dystrophy, tardive 10.2
5 miyoshi muscular dystrophy 10.2
6 autosomal recessive limb-girdle muscular dystrophy 10.2
7 limb-girdle muscular dystrophy 10.2
8 autosomal dominant distal myopathy 10.2
9 muscular dystrophy, limb-girdle, autosomal dominant 1 10.2
10 myopathy 10.0
11 dysphagia 10.0
12 lymphopenia 10.0

Graphical network of the top 20 diseases related to Vacuolar Neuromyopathy:



Diseases related to Vacuolar Neuromyopathy

Symptoms & Phenotypes for Vacuolar Neuromyopathy

Human phenotypes related to Vacuolar Neuromyopathy:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 dysphonia 31 HP:0001618
2 dysphagia 31 HP:0002015
3 elevated serum creatine kinase 31 HP:0003236
4 scapular winging 31 HP:0003691
5 rimmed vacuoles 31 HP:0003805
6 pes cavus 31 HP:0001761
7 muscular dystrophy 31 HP:0003560
8 distal muscle weakness 31 HP:0002460
9 foot dorsiflexor weakness 31 HP:0009027
10 muscle fiber splitting 31 HP:0003555
11 shoulder girdle muscle weakness 31 HP:0003547
12 neck flexor weakness 31 HP:0003722
13 centrally nucleated skeletal muscle fibers 31 HP:0003687

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Feet:
pes cavus

Laboratory Abnormalities:
increased serum creatine kinase

Voice:
dysphonia due to muscle weakness

Muscle Soft Tissue:
foot dorsiflexor weakness
neck flexor weakness
muscle weakness, distal
myopathic changes seen on emg
angulated atrophic fibers
more
Chest Ribs Sternum Clavicles And Scapulae:
scapular winging (in some patients)

Clinical features from OMIM®:

601846 (Updated 20-May-2021)

Drugs & Therapeutics for Vacuolar Neuromyopathy

Search Clinical Trials , NIH Clinical Center for Vacuolar Neuromyopathy

Genetic Tests for Vacuolar Neuromyopathy

Anatomical Context for Vacuolar Neuromyopathy

MalaCards organs/tissues related to Vacuolar Neuromyopathy:

40
Skeletal Muscle

Publications for Vacuolar Neuromyopathy

Articles related to Vacuolar Neuromyopathy:

# Title Authors PMID Year
1
Abnormal lysosomal and ubiquitin-proteasome pathways in 19p13.3 distal myopathy. 57
15236412 2004
2
A Case of Becker Muscular Dystrophy With Rimmed Vacuoles and Normal Dystrophin. 61
31483353 2020
3
The clinical and myopathological features of oculopharyngodistal myopathy in a Chinese family. 61
18503509 2008
4
Late-onset autosomal recessive limb-girdle muscular dystrophy with rimmed vacuoles. 61
15003303 2004
5
Fine mapping of a distinctive autosomal dominant vacuolar neuromyopathy using 11 novel microsatellite markers from chromosome band 19p13.3. 61
11039585 2000
6
A distinctive autosomal dominant vacuolar neuromyopathy linked to 19p13. 61
10489050 1999
7
Anterior tibial dystrophy (late onset foot drop muscular dystrophy with rimmed vacuoles). 61
9153012 1996
8
Late onset foot-drop muscular dystrophy with rimmed vacuoles. 61
7807161 1994

Variations for Vacuolar Neuromyopathy

Expression for Vacuolar Neuromyopathy

Search GEO for disease gene expression data for Vacuolar Neuromyopathy.

Pathways for Vacuolar Neuromyopathy

GO Terms for Vacuolar Neuromyopathy

Sources for Vacuolar Neuromyopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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