Neuropathy, Hereditary Sensory and Autonomic, Type Vii (HSAN7)

Alias:

Hereditary Sensory and Autonomic Neuropathy Type 7

Hsan7

Hereditary Sensory and Autonomic Neuropathy Type Vii

Hereditary Sensory and Autonomic Neuropathy with Hyperhidrosis and Gastrointestinal Dysfunction

Congenital Insensitivity to Pain with Hyperhidrosis and Gastrointestinal Dysfunction

Hsan with Hyperhidrosis and Gastrointestinal Dysfunction

Cip with Hyperhidrosis and Gastrointestinal Dysfunction

Hsan Vii

Insensitivity to Pain, Congenital, with Gastrointestinal Dysfunction and Hyperhidrosis

Congenital Insensitivity to Pain with Gastrointestinal Dysfunction and Hyperhidrosis

Neuropathy, Sensory and Autonomic, Hereditary, Type Vii

Neuropathy, Hereditary Sensory and Autonomic, 7

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Neuropathy, Hereditary Sensory and Autonomic, Type Vii, also known as hereditary sensory and autonomic neuropathy type 7, is related to autonomic neuropathy and neuropathy, and has symptoms including constipation, diarrhea and pruritus. An important gene associated with Neuropathy, Hereditary Sensory and Autonomic, Type Vii is SCN11A (Sodium Voltage-Gated Channel Alpha Subunit 11), and among its related pathways/superpathways are Phase 0 - rapid depolarisation and Interaction between L1 and Ankyrins. Affiliated tissues include bone and skin, and related phenotypes are muscle weakness and motor delay

Related ID：

MALACARDS：NRP031

OMIM：615548

MESH：D009477