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Phenotype
Hypertension
828articles
828mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
2 records shown · first 60Apparent Mineralocorticoid Excess Syndrome: Case Report.
PMID 40487050 | PMCID PMC12145099 | DOI 10.2147/IMCRJ.S520238 · International medical case reports journal · 2025 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | hypertension | “Symptoms included high blood pressure, hypokalemia, and metabolic alkalosis.” | 0.93 | phenotype_alias_lexicon_v2 |
| variant | p.Arg208Cys | “AME syndrome was confirmed by WES, which revealed a homozygous missense pathogenic mutation c.622C>T p.(Arg208Cys) in exon 3 of the HSD11B2 gene.” | 0.95 | hgvs_regex_v1 |
| gene | HSD11B2 | “Apparent Mineralocorticoid Excess (AME) syndrome is a rare form of high-blood pressure syndrome caused by genetic mutations in the 11b-hydroxysteroid dehydrogenase type 2 (HSD11B2) gene, inherited in an autosomal recessive manner.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “This report presents two cases of AME in children from consanguineous families identified through clinical assessment and whole-exome sequencing (WES). Only five cases have been reported in Saudi Arabia, and only four case studies discussed treatment plans.” | 0.95 | saudi_context_rules_v1 |
Apparent mineralocorticoid excess syndrome: report of one family with three affected children.
PMID 23329753 | DOI 10.1515/jpem-2012-0113 · Journal of pediatric endocrinology & metabolism : JPEM · 2012 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | hypertension | “The syndrome of apparent mineralocorticoid excess (AME) is an autosomal recessive disorder characterized by hypertension, hypokalemia, low renin, and hypoaldosteronism.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | p.Arg208Cys | “In this study, the genetic testing of those three siblings with the typical clinical features of AME has detected missense mutation c.662C>T (p.Arg208Cys) in exon 3 of the HSD11B2 gene in the homozygous state.” | 0.95 | hgvs_regex_v1 |
| gene | HSD11B2 | “In this study, the genetic testing of those three siblings with the typical clinical features of AME has detected missense mutation c.662C>T (p.Arg208Cys) in exon 3 of the HSD11B2 gene in the homozygous state.” | 0.98 | hgnc_dict_v1 |
| variant | c.662C>T | “In this study, the genetic testing of those three siblings with the typical clinical features of AME has detected missense mutation c.662C>T (p.Arg208Cys) in exon 3 of the HSD11B2 gene in the homozygous state.” | 0.95 | hgvs_regex_v1 |