hereditary neuropathy with liability to pressure palsies

Summary
Synonym
  • HNPP
  • current pressure-sensitive neuropathy
  • familial recurrent polyneuropathy
  • heterozygous microdeletion 17p11.2p12
  • potato-grubbing palsy
  • tomaculous neuropathy
  • tulip-bulb digger's palsy
Definition
A neuropathy characterized by autosomal dominant inheritance of peroneal muscle weakness, peripheral neuropathy, hyporeflexia, tomacula, segmental demyelination/remyelination, decreased motor nerve conduction that has_material_basis_in deletion or point mutation of the PMP22 gene on chromosome 17p12.
Super Class
autosomal dominant disease neuropathy
External Links
Disease Ontology
DOID:0060843
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying entries 1 - 10 of 30 in total
Gene ID Gene Symbol Description Source
410 ARSA arylsulfatase A
821 CANX calnexin
847 CAT catalase
960 CD44 CD44 molecule (IN blood group)
1636 ACE angiotensin I converting enzyme
2629 GBA1 glucosylceramidase beta 1
2720 GLB1 galactosidase beta 1
2877 GPX2 glutathione peroxidase 2
3032 HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta
3098 HK1 hexokinase 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024