KEGG   DISEASE: Hereditary neuropathy with liability to pressure palsiesHelp
Entry
H01296                      Disease                                

Name
Hereditary neuropathy with liability to pressure palsies
Description
Hereditary neuropathy with liability to pressure palsy (HNPP) is a rare autosomal dominant peripheral neuropathy characterized by compressive focal neuropathies and an underlying sensorimotor demyelinative polyneuropathy. HNPP is caused by a peripheral myelin protein (PMP22) gene deletion. PMP22 is duplicated in Charcot-Marie-Tooth disease type 1A (CMT1A). The other identified underlying genetic defects in HNPP are point mutations in PMP22 that lead to premature or delayed translation.
Category
Nervous system disease
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Other nervous and sensory system diseases
   H01296  Hereditary neuropathy with liability to pressure palsies
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Disorders of nerve root, plexus or peripheral nerves
   Hereditary neuropathy
    8C20  Hereditary motor or sensory neuropathy
     H01296  Hereditary neuropathy with liability to pressure palsies
BRITE hierarchy
Gene
PMP22 [HSA:5376] [KO:K19289]
Comment
Charcot-Marie-Tooth disease is described in H00264. [DS:H00264]
Other DBs
ICD-11: 8C20.Y
ICD-10: G60.0
MeSH: C536965
OMIM: 162500
Reference
  Authors
Nodera H, Nishimura M, Logigian EL, Herrmann DN, Kaji R
  Title
HNPP due to a novel missense mutation of the PMP22 gene.
  Journal
Neurology 60:1863-4 (2003)
DOI:10.1212/01.WNL.0000066049.13848.F2
Reference
  Authors
Kumar N, Muley S, Pakiam A, Parry GJ
  Title
Phenotypic Variability Leads to Under-recognition of HNPP.
  Journal
J Clin Neuromuscul Dis 3:106-12 (2002)

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