Log In|Sign Up
ENMedullary Sponge Kidney (MSK)
Alias:
Cacchi-Ricci Disease
Precalicial Canalicular Ectasia
Msk
Congenital Cystic Kidney Disease
Msk - [medullary Sponge Kidney]
Sponge Kidney Nos
Favorite
Medullary Sponge Kidney, also known as cacchi-ricci disease, is related to nephrocalcinosis and nephrolithiasis, calcium oxalate, 1. An important gene associated with Medullary Sponge Kidney is HNF1B (HNF1 Homeobox B). The drugs Venglustat and Enzyme Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include kidney and liver, and related phenotypes are nephrolithiasis and hematuria
Related ID：
ICD11：1723148250
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
Gene & Mutation
#
Gene
Function
Score
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
References Literature
Title
PMID
Journal
Year
IF
