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hereditary sensory & autonomic neuropathy
genetically & clinically heterogeneous group of disorders
Pathology:
- degeneration of dorsal root & autonomic ganglion cells
- sensory &/or autonomic abnormalities
- variable degree of motor & autonomic dysfunction
Complications:
- severe infections
- osteomyelitis,
- amputations
Specific
hereditary sensory & autonomic neuropathy type 1A (HSAN1)
hereditary sensory & autonomic neuropathy type 1C (HSAN1C)
hereditary sensory & autonomic neuropathy type 2; hereditary sensory radicular neuropathy; neurogenic acroosteolysis
hereditary sensory & autonomic neuropathy type 4; congenital insensitivity to pain with anhidrosis (CIPA); congenital sensory neuropathy with anhidrosis; familial dysautonomia type 2
hereditary sensory & autonomic neuropathy type 5
General
hereditary neuropathy
References
UniProt :accession O15261