neuropathy, hereditary sensory and autonomic, type 1A

Rare Disease

MONDO:0008086

Also Known As

HSAN1ASPTLC1 hereditary sensory and autonomic neuropathy type 1hereditary sensory and autonomic neuropathy type 1 caused by mutation in SPTLC1hereditary sensory and autonomic neuropathy type IAHSAN 1AHSN 1Ahereditary sensory and autonomic neuropathy type 1Aneuropathy, hereditary sensory and autonomic, type IAneuropathy, hereditary sensory radicular, autosomal dominant, type 1Aneuropathy, hereditary sensory, type 1A

Definition

An axonal form of hereditary motor and sensory neuropathy distinguished by prominent early sensory loss and later positive sensory phenomena, caused by mutations in SPTLC1.