DISEASES

Disease-gene associations mined from literature

Human genes for hereditary neuropathy with liability to pressure palsies

Hereditary neuropathy with liability to pressure palsies [DOID:0060843]

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.

Synonyms:  hereditary neuropathy with liability to pressure palsies,  DOID:0060843,  familial neuropathy with liability to pressure palsies,  hereditary neuropathy with liability to pressure palsieses,  HNPP ...