eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | hereditary neuropathy with liability to pressure palsies |
| Comorbidity | C0598589|hereditary neuropathy |
| Sentences | 4 |
| PubMedID- 24290847 | Plotting threshold versus extent of hyperpolarising threshold change in threshold electrotonus distinguished the cmtx1 patients from other chronic demyelinating neuropathies reported in the literature except hereditary neuropathy with pressure palsies (hnpp). |
| PubMedID- 22130109 | This 1.4 mb deletion causes the neurological disorder hereditary neuropathy with pressure palsies (hnpp, mim #162500) (chance et al., 1993), while the reciprocal duplication causes charcot–marie–tooth disease type 1a (cmt1a, mim #118220) (lupski et al., 1991). |
| PubMedID- 25648254 | The most common single cause is a 1.4 mb duplication of the pmp22 at 17p12, while a deletion of this gene causes hereditary neuropathy with pressure palsies (hnpp) [4–6]. |
| PubMedID- 21429232 | hereditary neuropathy with pressure palsies (hnpp) increases the risk for bpp [15]. |
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