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autosomal recessive pseudohypoaldosteronism type 1

ORPHA: 171876

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

human disease

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with autosomal recessive pseudohypoaldosteronism type 1, sourced from HPO and Orphanet clinical annotations.

Increased circulating renin concentrationMetabolic acidosisHyperkalemiaHyponatremiaGlucocortocoid-insensitive primary hyperaldosteronismAbnormal circulating aldosterone concentrationFailure to thrive in infancyDehydrationVomitingHypovolemic shockRecurrent upper and lower respiratory tract infectionsAtopic dermatitisCholelithiasisWeight lossOsteomyelitisProportionate short statureFeeding difficulties in infancyRecurrent tonsillitisArrhythmiaCoughWheezingPustule

Classification & Codes

Orphanet Code

ORPHA:171876
autosomal recessive pseudohypoaldosteronism type 1
OrphanetORPHA:171876
Treatments0 drug(s)
Symptoms on record22 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO