Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 (ADTKD1)

Alias:
Familial Juvenile Hyperuricemic Nephropathy
Familial Juvenile Hyperuricemic Nephropathy Type 1
Mckd2
Medullary Cystic Kidney Disease Type 2
Autosomal Dominant Tubulointerstitial Kidney Disease
Uromodulin-Associated Kidney Disease
Medullary Cystic Kidney Disease
Fjhn
Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria
Umod-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Medullary Cystic Kidney Disease 2
Umod-Related Adtkd
Adtkd-Umod
Adtkd1
Hnfj1
Adtkd
Mckd
Kidney Disease, Glomerulocystic, with Hyperuricemia and Isosthenuria
Nephropathy, Hyperuricemic, Juvenile, Familial, Type 1
Medullary Cystic Kidney Disease 2, Autosomal Dominant
Hyperuricemic Nephropathy, Familial Juvenile, 1
Hyperuricemic Nephropathy, Familial Juvenile 1
Familial Juvenile Hyperuricemic Nephropathy 1
Hyperuricemic Nephropathy, Familial Juvenile
Nephronophthisis - Medullary Cystic Disease
Kidney Disease, Cystic, Medullary, Type 2
Medullary Cystic Kidney Disease Type Ii
Gouty Nephropathy, Familial Juvenile
Gouty Nephropathy Familial Juvenile
Medullary Cystic Kidney Disease 1
Nephropathy Familial with Gout
Familial Gout-Kidney Disease
Umod-Related Kidney Disease
Familial Gouty Nephropathy
Uromodulin Storage Disease
Familial Juvenile Gout
Admckd2
Fjhn1
Umak
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1, also known as familial juvenile hyperuricemic nephropathy, is related to nephronophthisis and hyperuricemic nephropathy, familial juvenile, 3. An important gene associated with Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 is UMOD (Uromodulin), and among its related pathways/superpathways are NPHP1 deletion syndrome and Uricosurics Pathway, Pharmacodynamics. The drugs Temsirolimus and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include kidney and liver, and related phenotypes are renal insufficiency and hyperuricemia
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Adolescent
1-9/1000000
24
366
49

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
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