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Summary
PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT (PHA1A)
PHA I, AUTOSOMAL DOMINANT
177735
OMIM = Online Medalian Inheritance of Men
756
4q31.23
rare
autosomal dominant
symptoms
dehydration
diarrhea
failure to thrive
feeding difficulties, poor feeding
hyperkalemia
metabolic acidosis
onset, infancy
vomiting
laboratory finding
Potassium increasedserum
Sodium decreasedserum
Aldosterone increasedplasma
Renin activity (PRA) or renin increasedplasma
Literature
Van Scherpenzeel M,et al.Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiencyBrain13741030-10382014