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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, adolescent
onset, childhood
onset, fetus
onset, infancy
onset, neonatal
onset, variable age
laboratory finding
Potassium normal-decreasedserum
Aldosterone increasedplasma
Literature
Freeman AF,Olivier KNHyper-IgE Syndromes and the LungClin Chest Med373557-5672016
Torres RJ,et al.A review of the implication of hypoxanthine excess in the physiopathology of Lesch-Nyhan diseaseNucleosides Nucleotides Nucleic Acids3510207-5162016
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
Bell S,et al.Lesch-Nyhan Syndrome: Models, Theories, and TherapiesMol Syndromol76302-3112016
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