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apparent mineralocorticoid excess syndrome
Summary
- Synonym
-
- 11-beta-hydroxysteroid dehydrogenase deficiency type 2
- Ulick syndrome
- cortisol 11-beta-ketoreductase deficiency
- syndrome of apparent mineralocorticoid excess
- Definition
- A steroid inherited metabolic disorder characterized by decreased conversion of biologically active cortisol to inactive cortisone resulting in low aldosterone levels, metabolic alkalosis, hypernatremia, hypokalemia and early-onset severe hypertension that has_material_basis_in homozygous or compound heterozygous mutation in the HSD11B2 gene on chromosome 16.
- Super Class
- steroid inherited metabolic disorder
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P28845 | 11-beta-hydroxysteroid dehydrogenase 1 | |
| Q7LGC8 | Carbohydrate sulfotransferase 3 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000822 | Hypertension |
| HP:0011731 | Abnormality of circulating cortisol level |
| HP:0001511 | Intrauterine growth retardation |
| HP:0012606 | Renal sodium wasting |
| HP:0001959 | Polydipsia |
| HP:0001297 | Stroke |
| HP:0004319 | Decreased circulating aldosterone level |
| HP:0200114 | Metabolic alkalosis |
| HP:0001518 | Small for gestational age |
| HP:0000007 | Autosomal recessive inheritance |
