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Summary
PSEUDOHYPOALDOSTERONISM, TYPE IIA (PHA2A)
GORDON HYPERKALEMIA-HYPERTENSION SYNDROME
145260
OMIM = Online Medalian Inheritance of Men
757
1q31-q42
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)
symptoms
headache (severe, recurrent or occipital, migraine)
hyperkalemia
hypertension
onset, adolescent
onset, childhood
onset, infancy
pain, muscle
laboratory finding
Potassium increasedserum
Literature
Hoffjan S,et al.MAN1B1 Mutation Leads to a Recognizable Phenotype: A Case Report and Future ProspectsMol Syndromol6258-622015
Gartner V,McGuire PJ, Lee PRChild Neurology: medium-chain acyl-coenzyme A dehydrogenase deficiencyNeurology854e37-402015