Neuropathy, Hereditary Sensory and Autonomic, Type Viii (HSAN8)

Alias:

Hsan8

Hereditary Sensory and Autonomic Neuropathy Type Viii

Hereditary Sensory and Autonomic Neuropathy Type 8

Hsan Viii

Neuropathy, Sensory and Autonomic, Hereditary, Type Viii

Congenital Insensitivity to Pain-Hypohidrosis Syndrome

Neuropathy, Hereditary Sensory and Autonomic, 8

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Neuropathy, Hereditary Sensory and Autonomic, Type Viii, also known as hsan8, is related to anhidrosis and marsili syndrome. An important gene associated with Neuropathy, Hereditary Sensory and Autonomic, Type Viii is PRDM12 (PR/SET Domain 12), and among its related pathways/superpathways are Sphingolipid pathway and Phase 0 - rapid depolarisation. Affiliated tissues include tongue and skin, and related phenotypes are pain insensitivity and impaired temperature sensation

Related ID：

MALACARDS：NRP044

OMIM：616488

MESH：D009477