Pseudohyperaldosteronism type 2
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Hypertension due to gain-of-function mutations in the mineralocorticoid receptor Early-onset hypertension with exacerbation in pregnancy |
| Number of Symptoms | 5 |
| OrphanetNr: | 88660 |
| OMIM Id: |
605115
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| ICD-10: |
I15.1 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic hypertension
-Rare circulatory system disease -Rare genetic disease -Rare renal disease Rare disorder related with pregnancy, childbirth and puerperium -Rare gynecologic or obstetric disease |
Symptom Information:
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(HPO:0002924) | Decreased circulating aldosterone level | 7 / 7739 | ||||
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(HPO:0003351) | Decreased circulating renin level | 8 / 7739 | ||||
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(HPO:0008071) | Maternal hypertension | 10884226 | IBIS | 6 / 7739 | ||
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(HPO:0000822) | Hypertension | 224 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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