X-Linked Alport Syndrome

X-Linked Alport Syndrome(来自ICD-11)
别称:
Alport Syndrome, X-Linked
Nephropathy and Deafness, X-Linked
Hemorrhagic Hereditary Nephritis
Hereditary Nephritis
Alport Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
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References Literature
X-Linked Alport Syndrome, also known as alport syndrome, x-linked, is related to x-linked alport syndrome-diffuse leiomyomatosis and sensorineural hearing loss. An important gene associated with X-Linked 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 eye and kidney, and related phenotypes are hypertension and sensorineural hearing impairment
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参考文献
MALACARDS
XL
XLR
Child
1-9/100000
13
342
78

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