| H01296 | |
| H number | H01296 |
| 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 |
| Network | - |
| Gene | PMP22 [HSA:5376] [KO:K19289] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| 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 | PMID:12796555 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 PMID:19078663 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) DOI:10.1097/00131402-200203000-00002 |