Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 (ADTKD2)

Alias:
Medullary Cystic Kidney Disease Type 1
Mckd1
Medullary Cystic Kidney Disease 1
Muc1-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Muc1-Related Medullary Cystic Kidney Disease
Medullary Cystic Kidney Disease Type I
Polycystic Kidneys, Medullary Type
Muci-Related Adtkd
Adtkd-Muc1
Admckd1
Adtkd2
Mckd
Medullary Cystic Kidney Disease 1, Autosomal Dominant
Autosomal Dominant Medullary Cystic Kidney Disease 1
Medullary Cystic Kidney Disease, Autosomal Dominant
Autosomal Dominant Medullary Cystic Kidney Disease
Autosomal Dominant Interstitial Kidney Disease
Nephronophthisis - Medullary Cystic Disease
Kidney Disease, Cystic, Medullary, Type 1
Medullary Polycystic Kidneys
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2, also known as medullary cystic kidney disease type 1, is related to tubulointerstitial kidney disease, autosomal dominant, 1 and autosomal dominant tubulointerstitial kidney disease - muc1. An important gene associated with Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 is MUC1 (Mucin 1, Cell Surface Associated). The drugs Cholecalciferol and Ergocalciferol have been mentioned in the context of this disorder. Affiliated tissues include kidney, and related phenotypes are hypotension and hypertension
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Infant
<1/1000000
1
5
26

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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