PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT (PHA1A)

Question 1

What is  PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT (PHA1A)?

Accepted Answer

rare
autosomal dominant

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Pseudohypoaldosteronismus, generalisierter, Typ 1

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 177735

Disease	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT (PHA1A)
Synonym	PHA I, AUTOSOMAL DOMINANT
OMIM	177735 OMIM = Online Mendelian Inheritance of Men
Orphanet	756
Protein (UniProt)
Gene locus	4q31.23
ICD	N25.8
Summary	rare autosomal dominant
Laboratory findings	Aldosterone inc (plasma) Potassium inc (serum) Renin activity (PRA) or renin inc (plasma) Sodium dec (serum)
Symptoms	dehydration diarrhea failure to thrive feeding difficulties, poor feeding hyperkalemia metabolic acidosis onset, infancy vomiting