PSEUDOHYPOALDOSTERONISM, TYPE IIA (PHA2A)

Question 1

What is  PSEUDOHYPOALDOSTERONISM, TYPE IIA (PHA2A)?

Accepted Answer

rare
autosomal dominant
PHA types:
Type IIA (PHA2A): Unknown genetic cause (OMIM 145260)
Type IIB (PHA2B): WNK4 (OMIM 614491)
Type IIC (PHA2C): WNK1 (OMIM 614492)
Type IID (PHA2D): KLHL3 (OMIM 614495)
Type IIE (PHA2E): CUL3 (OMIM 614496)

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Pseudohypoaldosteronismus Typ 2A; PHA2A

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 145260

Disease	PSEUDOHYPOALDOSTERONISM, TYPE IIA (PHA2A)
Synonym	GORDON HYPERKALEMIA-HYPERTENSION SYNDROME
OMIM	145260 OMIM = Online Mendelian Inheritance of Men
Orphanet	757
Gene locus	1q31-q42
ICD	I15.1
Summary	rare autosomal dominant PHA types: Type IIA (PHA2A): Unknown genetic cause (OMIM 145260) Type IIB (PHA2B): WNK4 (OMIM 614491) Type IIC (PHA2C): WNK1 (OMIM 614492) Type IID (PHA2D): KLHL3 (OMIM 614495) Type IIE (PHA2E): CUL3 (OMIM 614496)
Laboratory findings	Potassium inc (serum)
Symptoms	headache (severe, recurrent or occipital, migraine) hyperkalemia hypertension onset, adolescent onset, childhood onset, infancy pain, muscle