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VCP

valosin containing protein

HCNC Approved Symbol
VCP (HGNC:12666)
Genomic Coordinates
9:35,056,064 - 35,072,625 (9p13.3)
Synonyms
IBMPFD, p97, CDC48, TERA
Disease Associations
This gene is associated with the following 3 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Charcot-Marie-Tooth disease, type 2Y
616687AD
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
613954AD
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1
167320AD

Diagnosed Cases

7Patients

In total, 7 patients were diagnosed with a variant in the VCP gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Pain in extremities
 2 (28.6%)
Amyotrophy
 
1 (14.3%)
Lower motor neuron disease
 
1 (14.3%)
Pyramidal tract disease
 
1 (14.3%)
Upper motor neuron dysfunction
 
1 (14.3%)