Bartter Syndrome, Type 1, Antenatal (BARTS1)

Alias:
Bartter Disease Type 1
Hyperprostaglandin E Syndrome 1
Bartter Syndrome, Type 1
Barts1
Bartter Syndrome Type 1
Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis
Hypokalemic Alkalosis with Hypercalciuria 1, Antenatal
Hypokalemic Alkalosis with Hypercalciuria 1 Antenatal
Hypokalemic Alkalosis with Hypercalciuria Antenatal 1
Bartter Syndrome, Antenatal Type 1
Bartter Syndrome Type 1 Antenatal
Bartter Syndrome Antenatal Type 1
Bartter Syndrome 1, Antenatal
Antenatal Bartter Syndrome 1
Bartter Syndrome Type I
Abs1
Bs1
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Bartter Syndrome, Type 1, Antenatal, also known as bartter disease type 1, is related to bartter syndrome, type 4b, neonatal, with sensorineural deafness and bartter syndrome, type 3, and has symptoms including constipation, diarrhea and fever. An important gene associated with Bartter Syndrome, Type 1, Antenatal is SLC12A1 (Solute Carrier Family 12 Member 1), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Diuretics Pathway, Pharmacodynamics. Affiliated tissues include kidney and breast, and related phenotypes are hyperparathyroidism and dehydration
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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20
98
20

Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
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Publications
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References Literature

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