hereditary neuropathy with liability to pressure palsies

Term ID

DOID:0060843

Synonyms

• current pressure-sensitive neuropathy
• familial recurrent polyneuropathy
• heterozygous microdeletion 17p11.2p12
• HNPP
• 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. (3)

References

• MESH:C536965
• MIM:162500
• ORDO:640
• SNOMEDCT_US_2023_03_01:230558006
• UMLS_CUI:C0393814

Ontology

Human Disease   ( DOID:0060843 )