Alport Syndrome

Alport Syndrome(来自ICD-11)
别称:
Hereditary Nephritis
Alport Hearing Loss-Nephropathy
Alport Deafness-Nephropathy
Hereditary Familial Congenital Hemorrhagic Nephritis
Hematuria-Nephropathy-Deafness Syndrome
Hereditary Interstitial Pyelonephritis
Thin Basement Membrane Nephropathy
Hemorrhagic Hereditary Nephritis
Congenital Hereditary Hematuria
Thin Basement Membrane Disease
Hematuric Hereditary Nephritis
Hemorrhagic Familial Nephritis
Hereditary Hematuria Syndrome
Nephritis, Hereditary
Familial Nephritis
Alports Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Alport Syndrome, also known as hereditary nephritis, is related to amme complex and alport syndrome 2, autosomal recessive. An important gene associated with Alport Syndrome is COL4A5 (Collagen Type IV Alpha 5 Chain), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. The drugs Metformin and Hypoglycemic Agents have been mentioned in the context of this disorder. Affiliated tissues include Kidney and eye, and related phenotypes are hematuria and thin glomerular basement membrane
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相关ID:
MESH:D009394

基础信息

遗传方式
发病时间
患病率/发病率
相关基因
相关模型
参考文献
MALACARDS
XLR
AR
AD
XL
Child
1-9/100000
63
608
65

疾病表征

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靶点药物

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临床阶段
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疾病模型

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MGI
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文献报道

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