ORPHA:320
Apparent mineralocorticoid excess
Synonyms: 11-beta-hydroxysteroid dehydrogenase deficiency type 2 · Ulick syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Apparent mineralocorticoid excess | 11-beta-hydroxysteroid dehydrogenase deficiency type 2 · Ulick syndrome |
| fr | Excès apparent de minéralocorticoïdes | Déficit en 11-bêta-hydroxystéroïde déshydogénase type 2 · Syndrome d'Ulick |
| de | Apparenter Mineralocorticoid Exzess | 11-beta-Hydroxysteroid-Dehydrogenase-Mangel Typ 2 · Ulick-Syndrom |
| es | Exceso aparente de mineralocorticoides | Deficiencia de 11-beta-hidroxiesteroide-deshidrogenasa · Síndrome de Ulick |
| it | Eccesso apparente di mineralcorticoidi | Deficit di 11-beta-idrossisteroido deidrogenasi, tipo 2 · Sindrome di Ulick |
| nl | Schijnbare overmaat aan mineralocorticoïd | Deficiëntie van 11-bèta-hydroxysteroïddehydrogenase type 2 · Syndroom van Ulick |
| pt | Excesso aparente de mineralocorticóides | Deficiência de 11-beta-hidroxiesteroide desidrogenase tipo 2 · Hipocalémia hipertensiva recessiva · Síndrome Ulick |
| pl | Pozorny nadmiar mineralokortykoidów | Niedobór dehydrogenazy 11-beta-hydroksysteroidowej · Zespół Ulicka |
| cs | Syndrom zdánlivého nadbytku mineralokortikoidů | Deficit 11-beta-hydroxysteroid dehydrogenázy, typ 2 · Ulickův syndrom |
| uk | Виражений надлишок мінералокортикоїдів | Дефіцит 11-бета-гідроксистероїддегідрогенази типу 2 · Синдром Уліка |
| zh | 显性盐皮质激素过多综合征 | 11β-羟类固醇脱氢酶缺乏2型 |
| tr | Görünür mineralokortikoid fazlalığı | Ulick sendromu · 11-beta-hidroksisteroid dehidrojenaz eksikliği tip 2 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 218030 | E | validated | |
| ICD-10 | E26.8 | NTBT | attributed | validated |
| ICD-11 | 5A76.Y | NTBT | index | validated |
| MONDO | 0009025 | E | validated | |
| MeSH | D043204 | E | validated | |
| UMLS | C0342488 | E | validated | |
| GARD | 433 | E | validated | |
| MedDRA | 10080229 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:101954Rare adrenal disease
rare endocrine diseases - ORPHA:506213Rare disorder potentially indicated for kidney transplant
rare transplant-related disorders - ORPHA:183637Rare genetic adrenal disease
rare genetic diseases - ORPHA:156629Rare genetic cause of hypertension
rare genetic diseases; rare renal diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HSD11B2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:5209 | ENSG00000176387 | 614232 | 16q22.1 | hydroxysteroid 11-beta dehydrogenase 2 | 10523339[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
17 annotations · validated 2019-07-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003351 | Decreased circulating renin concentration | |
| HP:0000822 | Hypertension | |
| HP:0002900 | Hypokalemia | |
| Frequent (79-30%) | ||
| HP:0012603 | Abnormal urine sodium concentration | |
| HP:0011731 | Abnormality of circulating cortisol level | |
| HP:0004319 | Decreased circulating aldosterone level | |
| HP:0001508 | Failure to thrive | |
| HP:0001960 | Hypokalemic metabolic alkalosis | |
| HP:0000121 | Nephrocalcinosis | |
| HP:0001959 | Polydipsia | |
| HP:0004322 | Short stature | |
| Occasional (29-5%) | ||
| HP:0001095 | Hypertensive retinopathy | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0001712 | Left ventricular hypertrophy | |
| HP:0000083 | Renal insufficiency | |
| HP:0001297 | Stroke | |
| Excluded (0%) | ||
| HP:0012606 | Renal sodium wasting | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 10536001[PMID]_870517[PMID]_226561[PMID]_17314322[PMID]_20610969[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/320
- This record as JSON: /data/d/320.json