Details of Disease

General Information of Disease (ID: DISY0X1V)

• Disease Name: Hereditary neuropathy with liability to pressure palsies
• Synonyms: polyneuropathy, familial recurrent; neuropathy, hereditary, with liability to pressure palsies; hereditary neuropathy with liability to pressure palsy; neuropathy, recurrent, with pressure palsies; tomaculous neuropathy; HNPP; Tomaculous neuropathy; current pressure-sensitive neuropathy; familial recurrent polyneuropathy; hereditary liability to pressure palsies; heterozygous microdeletion 17p11.2p12; hereditary neuropathy with liability to pressure palsies; potato-grubbing palsy; tulip-bulb digger's palsy
• Definition: Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities.
• Disease Hierarchy:
  DISSYRHC: Hereditary peripheral neuropathy
  DISPSIAN: Chromosome 17p deletion
  DISY0X1V: Hereditary neuropathy with liability to pressure palsies
• Disease Identifiers:
  MONDO ID: MONDO_0008087
  MESH ID: C536965
  UMLS CUI: C0393814
  OMIM ID: 162500
  MedGen ID: 98291
  Orphanet ID: 640
  SNOMED CT ID: 230558006

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
LY96	TT8S9AV	Limited	Genetic Variation	[1]
GJB1	TTSJIRP	moderate	Genetic Variation	[2]
RNMT	TTG45HY	Strong	Biomarker	[3]

This Disease Is Related to 12 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ARHGEF10	OTHJ1Y4I	Limited	Biomarker	[4]
COX10	OTCYIS0L	Limited	Genetic Variation	[5]
KIF1B	OTI1XQTO	moderate	Biomarker	[6]
ENDOU	OTB7OF7Y	Strong	Biomarker	[7]
EXOSC6	OTAC10N6	Strong	Biomarker	[7]
LITAF	OTT5JX1F	Strong	Genetic Variation	[8]
MAD2L1BP	OT2O2IUJ	Strong	Biomarker	[6]
MPZ	OTAR2YXH	Strong	Biomarker	[6]
PXMP2	OTYHX5MI	Strong	Genetic Variation	[9]
RAI1	OTKLQU00	Strong	Genetic Variation	[10]
REEP1	OTEMVFX7	Strong	Genetic Variation	[11]
PMP22	OTXWYWCZ	Definitive	Autosomal dominant	[12]

References

• [1] Tomaculous neuropathy in Charcot-Marie-Tooth disease with myelin protein zero gene mutation.J Neurol Sci. 1997 Dec 9;153(1):106-9. doi: 10.1016/s0022-510x(97)00202-5.
• [2] Charcot-Marie-Tooth disease and related hereditary polyneuropathies: molecular diagnostics determine aspects of medical management.Genet Med. 2006 Feb;8(2):86-92. doi: 10.1097/01.gim.0000200160.29385.73.
• [3] Phenotypic spectrum of Charcot-Marie-Tooth disease due to LITAF/SIMPLE mutations: a study of 18 patients.Eur J Neurol. 2017 Mar;24(3):530-538. doi: 10.1111/ene.13239.
• [4] Clinical, electrophysiological and magnetic resonance findings in a family with hereditary neuropathy with liability to pressure palsies caused by a novel PMP22 mutation.Neuromuscul Disord. 2014 Jan;24(1):56-62. doi: 10.1016/j.nmd.2013.09.005. Epub 2013 Sep 13.
• [5] The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs.Hum Mol Genet. 1997 Sep;6(9):1595-603. doi: 10.1093/hmg/6.9.1595.
• [6] Clinical and genetic spectra in a series of Chinese patients with Charcot-Marie-Tooth disease.Clin Chim Acta. 2015 Dec 7;451(Pt B):263-70. doi: 10.1016/j.cca.2015.10.007. Epub 2015 Oct 8.
• [7] Microsatellite mapping of the deletion in patients with hereditary neuropathy with liability to pressure palsies (HNPP): new molecular tools for the study of the region 17p12 --> p11 and for diagnosis.Cytogenet Cell Genet. 1996;72(1):20-5. doi: 10.1159/000134153.
• [8] The LITAF/SIMPLE I92V sequence variant results in an earlier age of onset of CMT1A/HNPP diseases.Neurogenetics. 2015 Jan;16(1):27-32. doi: 10.1007/s10048-014-0426-9. Epub 2014 Oct 24.
• [9] CNS myelination and PLP gene dosage.Pharmacogenomics. 2001 Aug;2(3):263-72. doi: 10.1517/14622416.2.3.263.
• [10] Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy.Hum Genet. 2016 Oct;135(10):1161-74. doi: 10.1007/s00439-016-1703-5. Epub 2016 Jul 7.
• [11] Peripheral neuropathy in hereditary spastic paraplegia caused by REEP1 variants.J Neurol. 2019 Mar;266(3):735-744. doi: 10.1007/s00415-019-09196-1. Epub 2019 Jan 12.
• [12] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.