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

Neuropathy, Hereditary Sensory and Autonomic, Type Vii(来自ICD-11)
别称:
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
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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
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参考文献
MALACARDS
AD
Newborn
<1/1000000
8
69
10

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