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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:0001712 | Left ventricular hypertrophy |
| HP:0012603 | Abnormal urine sodium concentration |
| HP:0001095 | Hypertensive retinopathy |
| HP:0003351 | Decreased circulating renin level |
| HP:0000121 | Nephrocalcinosis |
| HP:0001960 | Hypokalemic metabolic alkalosis |
| HP:0004322 | Short stature |
| HP:0001508 | Failure to thrive |
| HP:0000083 | Renal insufficiency |
| HP:0002900 | Hypokalemia |
