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MCID: ADL074
MIFTS: 14

Adult-Onset Distal Myopathy Due to Vcp Mutation

Categories: Bone diseases, 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 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:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Neuronal diseases Muscle diseases Bone diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
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
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant Cav3-Related Distal Myopathy
Autosomal Recessive Distal Myopathy Autosomal Dominant 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:

58 31 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 distal muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0002460
2 emg: myopathic abnormalities 58 31 frequent (33%) Frequent (79-30%) HP:0003458
3 scapular winging 58 31 frequent (33%) Frequent (79-30%) HP:0003691
4 rimmed vacuoles 58 31 frequent (33%) Frequent (79-30%) HP:0003805
5 myalgia 58 31 frequent (33%) Frequent (79-30%) HP:0003326
6 fasciculations 58 31 frequent (33%) Frequent (79-30%) HP:0002380
7 mildly elevated creatine kinase 58 31 frequent (33%) Frequent (79-30%) HP:0008180
8 dementia 58 31 frequent (33%) Frequent (79-30%) HP:0000726
9 progressive neurologic deterioration 58 31 frequent (33%) Frequent (79-30%) HP:0002344
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 muscle spasm 58 31 frequent (33%) Frequent (79-30%) HP:0003394
15 fatty replacement of skeletal muscle 58 31 frequent (33%) Frequent (79-30%) HP:0012548
16 abnormality of the musculature of the lower limbs 58 31 frequent (33%) Frequent (79-30%) HP:0001437
17 necrotizing myopathy 58 31 frequent (33%) Frequent (79-30%) HP:0008978
18 weakness of the intrinsic hand muscles 58 31 frequent (33%) Frequent (79-30%) HP:0009005
19 depressivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000716
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 decreased nerve conduction velocity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000762
23 anxiety 58 31 occasional (7.5%) Occasional (29-5%) HP:0000739
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 proximal muscle weakness 58 Excluded (0%)
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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:

40
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
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
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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