hereditary sensory and autonomic neuropathy—type 5
Definition A form (OMIM:608654) of hereditary sensory and autonomic neuropathy* characterised by a loss of pain perception, impaired temperature sensitivity, ulcers, and rarely self-mutilation. Autonomic involvement is variable.
*HSANs are a genetically and clinically heterogeneous group of disorders characterised by degeneration of dorsal root and autonomic ganglion cells, and sensory and/or autonomic abnormalities.
Molecular pathology Defects of NGF, which encodes nerve growth factor, a protein involved in regulating growth and differentiation of sympathetic and certain sensory neurons, cause hereditary sensory and autonomic neuropathy type 5.
Synonyms HSAN V, insensitivity to pain—congenital, neuropathy—hereditary sensory and autonomic—type V