MCID: ADL074
MIFTS: 14

Adult-Onset Distal Myopathy Due to Vcp Mutation

Categories: Bone diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Adult-Onset Distal Myopathy Due to Vcp Mutation

MalaCards integrated aliases for Adult-Onset Distal Myopathy Due to Vcp Mutation:

Name: Adult-Onset Distal Myopathy Due to Vcp Mutation 58

Characteristics:

Orphanet epidemiological data:

58
adult-onset distal myopathy due to vcp mutation
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Adult-Onset Distal Myopathy Due to Vcp Mutation

MalaCards based summary : Adult-Onset Distal Myopathy Due to Vcp Mutation An important gene associated with Adult-Onset Distal Myopathy Due to Vcp Mutation is VCP (Valosin Containing Protein). Affiliated tissues include skeletal muscle, and related phenotypes are distal muscle weakness and myalgia

Related Diseases for Adult-Onset Distal Myopathy Due to Vcp Mutation

Symptoms & Phenotypes for Adult-Onset Distal Myopathy Due to Vcp Mutation

Human phenotypes related to Adult-Onset Distal Myopathy Due to Vcp Mutation:

58 31 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 distal muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0002460
2 myalgia 58 31 frequent (33%) Frequent (79-30%) HP:0003326
3 emg: myopathic abnormalities 58 31 frequent (33%) Frequent (79-30%) HP:0003458
4 scapular winging 58 31 frequent (33%) Frequent (79-30%) HP:0003691
5 rimmed vacuoles 58 31 frequent (33%) Frequent (79-30%) HP:0003805
6 fasciculations 58 31 frequent (33%) Frequent (79-30%) HP:0002380
7 dementia 58 31 frequent (33%) Frequent (79-30%) HP:0000726
8 progressive neurologic deterioration 58 31 frequent (33%) Frequent (79-30%) HP:0002344
9 muscle spasm 58 31 frequent (33%) Frequent (79-30%) HP:0003394
10 frequent falls 58 31 frequent (33%) Frequent (79-30%) HP:0002359
11 difficulty walking 58 31 frequent (33%) Frequent (79-30%) HP:0002355
12 intrinsic hand muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0008954
13 foot dorsiflexor weakness 58 31 frequent (33%) Frequent (79-30%) HP:0009027
14 fatty replacement of skeletal muscle 58 31 frequent (33%) Frequent (79-30%) HP:0012548
15 abnormality of the musculature of the lower limbs 58 31 frequent (33%) Frequent (79-30%) HP:0001437
16 necrotizing myopathy 58 31 frequent (33%) Frequent (79-30%) HP:0008978
17 weakness of the intrinsic hand muscles 58 31 frequent (33%) Frequent (79-30%) HP:0009005
18 mildly elevated creatine kinase 31 frequent (33%) HP:0008180
19 decreased nerve conduction velocity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000762
20 tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0001337
21 bowel incontinence 58 31 occasional (7.5%) Occasional (29-5%) HP:0002607
22 anxiety 58 31 occasional (7.5%) Occasional (29-5%) HP:0000739
23 depressivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000716
24 back pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0003418
25 urinary incontinence 58 31 occasional (7.5%) Occasional (29-5%) HP:0000020
26 parkinsonism 58 31 occasional (7.5%) Occasional (29-5%) HP:0001300
27 facial diplegia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001349
28 reduced vital capacity 58 31 very rare (1%) Very rare (<4-1%) HP:0002792
29 cardiomyopathy 58 Excluded (0%)
30 mildly elevated creatine phosphokinase 58 Frequent (79-30%)
31 proximal muscle weakness 58 Excluded (0%)

Drugs & Therapeutics for Adult-Onset Distal Myopathy Due to Vcp Mutation

Search Clinical Trials , NIH Clinical Center for Adult-Onset Distal Myopathy Due to Vcp Mutation

Genetic Tests for Adult-Onset Distal Myopathy Due to Vcp Mutation

Anatomical Context for Adult-Onset Distal Myopathy Due to Vcp Mutation

MalaCards organs/tissues related to Adult-Onset Distal Myopathy Due to Vcp Mutation:

40
Skeletal Muscle

Publications for Adult-Onset Distal Myopathy Due to Vcp Mutation

Variations for Adult-Onset Distal Myopathy Due to Vcp Mutation

Expression for Adult-Onset Distal Myopathy Due to Vcp Mutation

Search GEO for disease gene expression data for Adult-Onset Distal Myopathy Due to Vcp Mutation.

Pathways for Adult-Onset Distal Myopathy Due to Vcp Mutation

GO Terms for Adult-Onset Distal Myopathy Due to Vcp Mutation

Sources for Adult-Onset Distal Myopathy Due to Vcp Mutation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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