PSEUDOHYPOALDOSTERONISM, TYPE IIC (PHA2C)

Question 1

What is  PSEUDOHYPOALDOSTERONISM, TYPE IIC (PHA2C)?

Accepted Answer

rare
autosomal dominant
mutation in the WNK1 gene
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 2C;  PHA2C

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 614492

Disease	PSEUDOHYPOALDOSTERONISM, TYPE IIC (PHA2C)
OMIM	614492 OMIM = Online Mendelian Inheritance of Men
Orphanet	757
Protein (UniProt)
Gene locus	12p13.33
ICD	I15.1
Summary	rare autosomal dominant mutation in the WNK1 gene 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	Chloride inc (serum) Potassium inc (serum)
Symptoms	hyperchloremic acidosis hyperkalemia hypertension metabolic acidosis onset, adolescent onset, adulthood