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Metadata
ID DOID:0060843
Name hereditary neuropathy with liability to pressure palsies
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.
https://www.ncbi.nlm.nih.gov/pubmed/12682341, https://www.ncbi.nlm.nih.gov/pubmed/2540008, https://www.ncbi.nlm.nih.gov/pubmed/8422677
Xrefs

MESH:C536965

OMIM:162500

ORDO:640

UMLS_CUI:C0393814

Synonyms

current pressure-sensitive neuropathy [EXACT]

familial recurrent polyneuropathy [EXACT]

heterozygous microdeletion 17p11.2p12 [EXACT]

HNPP [EXACT]

potato-grubbing palsy [EXACT]

tomaculous neuropathy [EXACT]

tulip-bulb digger's palsy [EXACT]

Parent Relationships

is_a neuropathy

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