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Summary
HYPERALDOSTERONISM, FAMILIAL, TYPE I HALD1
103900
OMIM = Online Medalian Inheritance of Men
403
8q24.3
rare
autosomal dominant
symptoms
adrenal hyperplasia
headache (severe, recurrent or occipital, migraine)
hypertension
hypokalemia
onset, variable age
laboratory finding
Potassium normal-decreasedserum
Aldosterone increasedplasma
Literature
Freeman AF,Olivier KNHyper-IgE Syndromes and the LungClin Chest Med373557-5672016
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
Zhang Y,et al.Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairmentJ Allergy Clin Immunol13351400-14092014
Wu G,et al.Glycoproteomic studies of IgE from a novel hyper IgE syndrome linked to PGM3 mutationGlycoconj J333447-4562016
Biswas P,et al.Genetic analysis of 10 pedigrees with inherited retinal degeneration by exome sequencing and phenotype-genotype associationPhysiol Genomics494216-2292017
Najmabadi H,et al.Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene lociHum Genet121143-482007