MCID: VCL008
MIFTS: 21

Vacuolar Neuromyopathy

Categories: Muscle diseases, Neuronal diseases

Aliases & Classifications for Vacuolar Neuromyopathy

MalaCards integrated aliases for Vacuolar Neuromyopathy:

Name: Vacuolar Neuromyopathy 58 74
Muscular Dystrophy with Rimmed Vacuoles 58 13
Muscular Dystrophy, Autosomal Dominant, with Rimmed Vacuoles; Mdrv 58
Muscular Dystrophy, Autosomal Dominant, with Rimmed Vacuoles 58
Mdrv 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
adult onset
variable severity
one family has been reported (last curated april 2016)


HPO:

33
vacuolar neuromyopathy:
Onset and clinical course variable expressivity adult onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Vacuolar Neuromyopathy

MalaCards based summary : Vacuolar Neuromyopathy, also known as muscular dystrophy with rimmed vacuoles, is related to cone-rod dystrophy and hearing loss 2 and muscular dystrophy. 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

Description from OMIM: 601846

Related Diseases for Vacuolar Neuromyopathy

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

# Related Disease Score Top Affiliating Genes
1 cone-rod dystrophy and hearing loss 2 11.1
2 muscular dystrophy 10.4
3 foot drop 10.3
4 autosomal recessive limb-girdle muscular dystrophy 10.2
5 limb-girdle muscular dystrophy 10.2
6 myopathy, myofibrillar, 3 10.1

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:

33 (show all 13)
# Description HPO Frequency HPO Source Accession
1 dysphonia 33 HP:0001618
2 dysphagia 33 HP:0002015
3 pes cavus 33 HP:0001761
4 scapular winging 33 HP:0003691
5 rimmed vacuoles 33 HP:0003805
6 neck flexor weakness 33 HP:0003722
7 foot dorsiflexor weakness 33 HP:0009027
8 muscular dystrophy 33 HP:0003560
9 centrally nucleated skeletal muscle fibers 33 HP:0003687
10 distal muscle weakness 33 HP:0002460
11 shoulder girdle muscle weakness 33 HP:0003547
12 muscle fiber splitting 33 HP:0003555
13 elevated serum creatine kinase 33 HP:0003236

Symptoms via clinical synopsis from OMIM:

58
Skeletal Feet:
pes cavus

Laboratory Abnormalities:
increased serum creatine kinase

Voice:
dysphonia due to muscle weakness

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

Clinical features from OMIM:

601846

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:

42
Skeletal Muscle

Publications for Vacuolar Neuromyopathy

Articles related to Vacuolar Neuromyopathy:

# Title Authors Year
1
Late-onset autosomal recessive limb-girdle muscular dystrophy with rimmed vacuoles. ( 15003303 )
2004
2
Fine mapping of a distinctive autosomal dominant vacuolar neuromyopathy using 11 novel microsatellite markers from chromosome band 19p13.3. ( 11039585 )
2000
3
A distinctive autosomal dominant vacuolar neuromyopathy linked to 19p13. ( 10489050 )
1999
4
Anterior tibial dystrophy (late onset foot drop muscular dystrophy with rimmed vacuoles). ( 9153012 )
1996
5
Late onset foot-drop muscular dystrophy with rimmed vacuoles. ( 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
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
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