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Summary

Disease	PSEUDOHYPOALDOSTERONISM, TYPE IIE (PHA2E)
OMIM	614496 OMIM = Online Medalian Inheritance of Men
Orphanet	757
Gene locus	2q36.2
Summary	rare autosomal dominant mutation in the CUL3 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)

symptoms

hyperchloremic acidosis

hyperkalemia

hypertension

onset, adolescent

onset, childhood

laboratory finding

Metabolite	min	max	Norm. min	Norm. max	unit	specimen	agegroup
Potassium					increased	serum
Chloride					increased	serum

Literature

Author	Co-Author	Title	society	book	volume	number	pages	Year
Gartner V,	McGuire PJ, Lee PR	Child Neurology: medium-chain acyl-coenzyme A dehydrogenase deficiency	Neurology		85	4	e37-40	2015