Bartter Syndrome, Type 3 (BARTS3)

Alias:
Bartter Disease Type 3
Bartter Syndrome Type 3
Barts3
Bartter Syndrome, Classic
Bartter Syndrome Type Iii
Classic Bartter Syndrome
Bartter Syndrome 3
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Bartter Syndrome, Type 3, also known as bartter disease type 3, is related to bartter syndrome, type 4b, neonatal, with sensorineural deafness and bartter syndrome, type 4a, neonatal, with sensorineural deafness, and has symptoms including polyuria and generalized muscle weakness. An important gene associated with Bartter Syndrome, Type 3 is CLCNKB (Chloride Voltage-Gated Channel Kb), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Ion channel transport. Affiliated tissues include kidney and retina, and related phenotypes are hypokalemia and hypocalciuria
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Infant
--
16
112
41

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