Tuberous Sclerosis

Tuberous Sclerosis(来自ICD-11)
别称:
Tuberous Sclerosis Syndrome
Bourneville's Disease
Epiloia
Bourneville Phakomatosis
Tuberous Sclerosis 1
Bourneville Disease
Tuberose Sclerosis
Cerebral Sclerosis
Pringle's Disease
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Tuberous Sclerosis, also known as bourneville's disease, is related to tuberous sclerosis 1 and polycystic kidney disease, infantile severe, with tuberous sclerosis, and has symptoms including back pain, headache and pain. An important gene associated with Tuberous Sclerosis is TSC2 (TSC Complex Subunit 2), and among its related pathways/superpathways are ERK Signaling and Signal Transduction. The drugs Doxycycline and Cannabidiol have been mentioned in the context of this disorder. Affiliated tissues include kidney and skin, and related phenotypes are Decreased viability and Increased shRNA abundance (Z-score > 2)
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相关ID:
MESH:D014402
ICD11:1903085809

基础信息

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参考文献
MALACARDS
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Unknown
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50
798
47

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