Pseudoxanthoma Elasticum (PXE)

Pseudoxanthoma Elasticum(来自ICD-11)
别称:
Pxe
Gronblad-Strandberg Syndrome
Gronblad-Strandberg-Touraine Syndrome
Pseudoxanthoma Elasticum, Modifier of Severity of
Pxe - [pseudoxanthoma Elasticum]
Groenblad-Strandberg Syndrome
Nevus Elasticus
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Pseudoxanthoma Elasticum, also known as pxe, is related to arterial calcification of infancy and angioid streaks, and has symptoms including angina pectoris An important gene associated with Pseudoxanthoma Elasticum is ABCC6 (ATP Binding Cassette Subfamily C Member 6), and among its related pathways/superpathways are Glucose / Energy Metabolism and Endochondral ossification with skeletal dysplasias. The drugs Dexlansoprazole and Lansoprazole have been mentioned in the context of this disorder. Affiliated tissues include skin and eye, and related phenotypes are retinopathy and thickened nuchal skin fold
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相关ID:
MESH:D011561
ICD11:1516160852

基础信息

遗传方式
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参考文献
MALACARDS
AR
All ages
1-9/100000
42
326
118

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MGI
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