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Summary
HYPERALDOSTERONISM, FAMILIAL, TYPE III HALD3
613677
OMIM = Online Medalian Inheritance of Men
251274
11q24.3
rare
autosomal dominant
mutation in the KCNJ5 gene
symptoms
adrenal hyperplasia
hypertension
hypoaldosteronism
hypokalemia
metabolic acidosis
muscle weakness
onset, adolescent
onset, childhood
polydipsia (increased drinking)
polyuria
laboratory finding
Potassium decreasedserum
Aldosterone increasedserum
Renin activity (PRA) or renin decreasedplasma
Calcium normal-increasedurine
Literature
Bernth-Jensen JM,Holm M, Christiansen MNeonatal-onset T(-)B(-)NK(+) severe combined immunodeficiency and neutropenia caused by mutated phosphoglucomutase 3J Allergy Clin Immunol1371321-3242016
Venturini G,et al.Two specific mutations are prevalent causes of recessive retinitis pigmentosa in North American patients of Jewish ancestryGenet Med174285-2902015
Sabry S,et al.A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activityOrphanet J Rare Dis111842016
Molinari F,et al.Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardationAm J Hum Genet8251150-11572008
Biswas P,et al.Genetic analysis of 10 pedigrees with inherited retinal degeneration by exome sequencing and phenotype-genotype associationPhysiol Genomics494216-2292017
Lundin KE,et al.Susceptibility to infections, without concomitant hyper-IgE, reported in 1976, is caused by hypomorphic mutation in the phosphoglucomutase 3 (PGM3) geneClin Immunol1612366-3722015