Alport Syndrome

Alias:
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
Favorite
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
Related ID:
MESH:D009394

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XLR
AR
AD
XL
Child
1-9/100000
63
605
65

Medical Symptom

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

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
Wechat
Comparison
Al agent
Tutorials
Back to top