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Summary
HYPERALDOSTERONISM, FAMILIAL, TYPE II HALD2
605635
OMIM = Online Medalian Inheritance of Men
404
7p22
rare
autosomal dominant
not suppressible by dexamethasone
symptoms
adrenal hyperplasia
hyperaldosteronism
hypertension
laboratory finding
Aldosterone increasedplasma
Literature
Najmabadi Het al.Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene lociHum Genet121143-482007
Garshasbi M,et al.A defect in the TUSC3 gene is associated with autosomal recessive mental retardationAm J Hum Genet8251158-11642008
El Chehadeh S,et al.Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical or Biochemical Metabolic MarkersJIMD Rep20045-552015
Stray-Pedersen A,et al.PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasiaAm J Hum Genet95196-1072014
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
Yu X,et al.TUSC3: a novel tumour suppressor gene and its functional implicationsJ Cell Mol Med2191711-17182017
Al-Amri A,et al.Homozygous single base deletion in TUSC3 causes intellectual disability with developmental delay in an Omani familyAm J Med Genet A17071826-18312016
Zhang MJ,et al.Association of TUSC3 gene polymorphisms with non-syndromic mental retardation based on nuclear families in the Qinba mountain area of ChinaGenet Mol Res1425022-50302015
Yang L,Fliegauf M, Grimbacher BHyper-IgE syndromes: reviewing PGM3 deficiencyCurr Opin Pediatr266697-7032014