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MCID: ADL074
MIFTS: 15

Adult-Onset Distal Myopathy Due to Vcp Mutation

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
Genes Tissues Symptoms & Phenotypes
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Aliases & Classifications for Adult-Onset Distal Myopathy Due to Vcp Mutation

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

Name: Adult-Onset Distal Myopathy Due to Vcp Mutation 60

Characteristics:

Orphanet epidemiological data:

60
adult-onset distal myopathy due to vcp mutation
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Neuronal diseases Muscle diseases
See all MalaCards categories (disease lists)
ICD10: 35
Orphanet: 60  
Rare neurological diseases


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Summaries for Adult-Onset Distal Myopathy Due to Vcp Mutation

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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 emg: myopathic abnormalities

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

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Diseases in the Myopathy, Distal, Infantile-Onset family:

Myopathy, Distal, 1 Myopathy, Distal, 3
Myopathy, Distal, 4 Myopathy, Distal, 5
Cav3-Related Distal Myopathy Adult-Onset Distal Myopathy Due to Vcp Mutation
Klhl9-Related Early-Onset Distal Myopathy

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

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

60 33 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 distal muscle weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0002460
2 emg: myopathic abnormalities 60 33 frequent (33%) Frequent (79-30%) HP:0003458
3 scapular winging 60 33 frequent (33%) Frequent (79-30%) HP:0003691
4 rimmed vacuoles 60 33 frequent (33%) Frequent (79-30%) HP:0003805
5 myalgia 60 33 frequent (33%) Frequent (79-30%) HP:0003326
6 dementia 60 33 frequent (33%) Frequent (79-30%) HP:0000726
7 fasciculations 60 33 frequent (33%) Frequent (79-30%) HP:0002380
8 difficulty walking 60 33 frequent (33%) Frequent (79-30%) HP:0002355
9 foot dorsiflexor weakness 60 33 frequent (33%) Frequent (79-30%) HP:0009027
10 frequent falls 60 33 frequent (33%) Frequent (79-30%) HP:0002359
11 intrinsic hand muscle atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0008954
12 weakness of the intrinsic hand muscles 60 33 frequent (33%) Frequent (79-30%) HP:0009005
13 necrotizing myopathy 60 33 frequent (33%) Frequent (79-30%) HP:0008978
14 progressive neurologic deterioration 60 33 frequent (33%) Frequent (79-30%) HP:0002344
15 fatty replacement of skeletal muscle 60 33 frequent (33%) Frequent (79-30%) HP:0012548
16 muscle spasm 33 frequent (33%) HP:0003394
17 mildly elevated creatine kinase 33 frequent (33%) HP:0008180
18 depressivity 60 33 occasional (7.5%) Occasional (29-5%) HP:0000716
19 tremor 60 33 occasional (7.5%) Occasional (29-5%) HP:0001337
20 bowel incontinence 60 33 occasional (7.5%) Occasional (29-5%) HP:0002607
21 decreased nerve conduction velocity 60 33 occasional (7.5%) Occasional (29-5%) HP:0000762
22 anxiety 60 33 occasional (7.5%) Occasional (29-5%) HP:0000739
23 back pain 60 33 occasional (7.5%) Occasional (29-5%) HP:0003418
24 facial diplegia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001349
25 urinary incontinence 60 33 occasional (7.5%) Occasional (29-5%) HP:0000020
26 parkinsonism 60 33 occasional (7.5%) Occasional (29-5%) HP:0001300
27 reduced vital capacity 60 33 very rare (1%) Very rare (<4-1%) HP:0002792
28 cardiomyopathy 60 Excluded (0%)
29 muscle cramps 60 Frequent (79-30%)
30 proximal muscle weakness 60 Excluded (0%)
31 mildly elevated creatine phosphokinase 60 Frequent (79-30%)
32 abnormality of the musculature of the lower limbs 60 Frequent (79-30%)
Sources

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

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

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

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

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

42
Skeletal Muscle
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Publications for Adult-Onset Distal Myopathy Due to Vcp Mutation

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Variations for Adult-Onset Distal Myopathy Due to Vcp Mutation

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Expression for Adult-Onset Distal Myopathy Due to Vcp Mutation

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

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

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Sources for Adult-Onset Distal Myopathy Due to Vcp Mutation

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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