Hereditary Sensory Neuropathy (HSAN)

Hereditary Sensory Neuropathy(来自ICD-11)
别称:
Hereditary Sensory and Autonomic Neuropathy
Hereditary Sensory and Autonomic Neuropathies
Hsan
Neuropathy, Sensory and Autonomic, Hereditary
Cmt - [charcot-Marie-Tooth Disease]
Neuropathy, Sensory, Hereditary
Familial Dysautonomia, Type Ii
Sensory Neuropathy, Hereditary
Sensory Neuropathy Hereditary
Charcot-Marie-Tooth Disease
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hereditary Sensory Neuropathy, also known as hereditary sensory and autonomic neuropathy, is related to charcot-marie-tooth disease and deafness and charcot-marie-tooth disease, axonal, type 2e. An important gene associated with Hereditary Sensory Neuropathy is SPTLC1 (Serine Palmitoyltransferase Long Chain Base Subunit 1), and among its related pathways/superpathways are Neuroscience and Signaling by NTRKs. The drugs Folic acid and Lipoic acid have been mentioned in the context of this disorder. Affiliated tissues include tongue and spinal cord, and related phenotypes are growth/size/body region and nervous system
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相关ID:
MESH:D009477
ICD11:1091217288

基础信息

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参考文献
MALACARDS
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Unknown
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MGI
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