Neuropathy, Hereditary Sensory and Autonomic, Type Iii (HSAN3)

Neuropathy, Hereditary Sensory and Autonomic, Type Iii(来自ICD-11)

别称:

Familial Dysautonomia

Riley-Day Syndrome

Hsan3

Hereditary Sensory and Autonomic Neuropathy Type Iii

Dysautonomia, Familial

Hsan Iii

Hereditary Sensory and Autonomic Neuropathy Type 3

Dys

Hsan3 - [hereditary Sensory and Autonomic Neuropathy Type 3]

Neuropathy, Sensory and Autonomic, Hereditary, Type Iii

Hereditary Sensory Autonomic Neuropathy Type Iii

Neuropathy, Hereditary Sensory and Autonomic, 3

Hereditary Sensory and Autonomic Neuropathy 3

Familial Autonomic Nervous Dysfunction

Dysautonomia Familial

Riley Day Syndrome

Hsan Type Iii

Hsn-Iii

Hsn Iii

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Neuropathy, Hereditary Sensory and Autonomic, Type Iii, also known as familial dysautonomia, is related to insensitivity to pain, congenital, with anhidrosis and autonomic nervous system disease, and has symptoms including constipation and diarrhea. An important gene associated with Neuropathy, Hereditary Sensory and Autonomic, Type Iii is ELP1 (Elongator Acetyltransferase Complex Subunit 1), and among its related pathways/superpathways are Chromatin organization and Signaling by Receptor Tyrosine Kinases. The drugs Dopamine and Carbidopa have been mentioned in the context of this disorder. Affiliated tissues include skin and eye, and related phenotypes are hyperhidrosis and feeding difficulties in infancy

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