X-Linked Alport Syndrome

Alias:
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
Related Drugs
Disease Model
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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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XL
XLR
Child
1-9/100000
13
342
78

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

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Name
MGI
Related Gene
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Publications
No data available

References Literature

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IF
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