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MPZ

myelin protein zero

HCNC Approved Symbol
MPZ (HGNC:7225)
Genomic Coordinates
1:161,303,600 - 161,309,968 (1q23.3)
Synonyms
HMSNIB, CMT2I, CMT2J, P0, CMT1, CMT1B
Disease Associations
This gene is associated with the following 7 diseases in OMIM.

Diagnosed Cases

35Patients

In total, 35 patients were diagnosed with a variant in the MPZ gene.

Frequently observed phenotypes

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

Polyneuropathy
 
5 (14.3%)
Peripheral neuropathy
 
4 (11.4%)
Muscle weakness
 
4 (11.4%)
Hypotonia
 
4 (11.4%)
Muscular dystrophy
 
3 (8.6%)
MPZ - Gene browser | 3billion