PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE; PHA1B

Question 1

What is  PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE; PHA1B?

Accepted Answer

rare
autosomal recessive

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Pseudohypoaldosteronismus, generalisierter, Typ 1

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 264350

Question 4

Which enzymes are involved?

Accepted Answer

Amiloride-sensitive sodium channel subunit alpha, Amiloride-sensitive sodium channel subunit beta

Disease	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE; PHA1B
Synonym	PHA I, AUTOSOMAL RECESSIVE
OMIM	264350 OMIM = Online Mendelian Inheritance of Men
Orphanet	171876
Protein (UniProt)	Amiloride-sensitive sodium channel subunit alpha, Amiloride-sensitive sodium channel subunit beta
Gene locus	12p13.31, 16p12.2
ICD	N25-8
Summary	rare autosomal recessive
Laboratory findings	Aldosterone inc (plasma) Potassium inc (serum) Renin activity (PRA) or renin inc (plasma) Sodium inc (urine) Sodium dec (serum)
Symptoms	dehydration diarrhea failure to thrive feeding difficulties, poor feeding metabolic acidosis onset, infancy vomiting