Hematuria, Benign Familial, 1 (BFH1)

Alias:
Benign Familial Hematuria
Hematuria, Benign Familial
Thin Membrane Nephropathy
Tmn
Thin Basement Membrane Nephropathy
Bfh1
Bfh
Thin-Basement-Membrane Nephropathy
Thin Basement Membrane Disease
Hematuria, Familial Benign, 1
Hematuria, Benign, Familial
Hematuria Benign Familial
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hematuria, Benign Familial, 1, also known as benign familial hematuria, is related to alport syndrome and alport syndrome 2, autosomal recessive. An important gene associated with Hematuria, Benign Familial, 1 is COL4A4 (Collagen Type IV Alpha 4 Chain), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. The drugs Enalapril and Enalaprilat have been mentioned in the context of this disorder. Affiliated tissues include kidney and liver, and related phenotypes are hematuria and thin glomerular basement membrane
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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37
459
15

Medical Symptom

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

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

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

References Literature

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PMID
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IF
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