PSEUDOHYPOALDOSTERONISM, TYPE IID (PHA2D)

Question 1

What is  PSEUDOHYPOALDOSTERONISM, TYPE IID (PHA2D)?

Accepted Answer

rare
autosomal recessive
autosomal dominant
mutation in the KLHL3 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 2D;  PHA2D

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 614495

Disease	PSEUDOHYPOALDOSTERONISM, TYPE IID (PHA2D)
OMIM	614495 OMIM = Online Mendelian Inheritance of Men
Orphanet	757
Protein (UniProt)
Gene locus	5q31.2
ICD	I15.1
Summary	rare autosomal recessive autosomal dominant mutation in the KLHL3 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 onset, variable age