Pseudohypoaldosteronism type 1

MONDO:0019161

A rare, primary form of mineralocorticoid resistance characterized by mild to profound salt wasting either restricted to the kidney (renal pseudohypoaldosteronism type 1), or generalized affecting many organs (generalized pseudohypoaldosteronism type 1). Clinical presentation is in the neonatal period with failure to thrive, vomiting and dehydration with biochemical findings of hyperkalaemia, metabolic acidosis and, elevated plasma aldosterone and renin concentration.

Also known as: PHA type 1, pseudohypoaldosteronism, type I, PHA1B, pseudohypoaldosteronism type I autosomal recessive

3 clinical trials for this condition and its sub-types.

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Sub-types

Autosomal dominant pseudohypoaldosteronism type 1 (1) Pseudohypoaldosteronism, type IB1, autosomal recessive (0) Pseudohypoaldosteronism, type IB2, autosomal recessive (0) Pseudohypoaldosteronism, type IB3, autosomal recessive (0)

Broader categories

Disease (680) Kidney disorder (214) Hereditary disease (176) Urinary system disorder (66) Human disease (14) Pseudohypoaldosteronism (3) Disease of genetic or genomic mechanism (2) Inherited kidney disorder (1) Renal tubule disorder (1) Disease by body system or component (0)

Trials to join now! 1 Not yet finished but already full! 1 Completed 1

Newborn screening study aims to catch rare diseases at birth

Diagnosis Ongoing

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

Sponsor: RTI International • Aim: Diagnosis

Last updated Jul 03, 2026 00:00 UTC

Pseudohypoaldosteronism type 1

Sub-types

Broader categories

Newborn screening study aims to catch rare diseases at birth