Details of Disease

General Information of Disease (ID: DISU4CP9)

• Disease Name: Pseudohyperaldosteronism type 2
• Synonyms: hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy; hypertension, early-onset, autosomal dominant, with Severe exacerbation in pregnancy; hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy; hypertension due to gain-of-function mutations in the mineralocorticoid receptor; early-onset hypertension with exacerbation in pregnancy
• Definition: Hypertension due to gain-of-function mutations in the mineralocorticoid receptor is a rare genetic hypertension characterized by a familial severe hypertension with an onset before age 20 years, associated with suppressed plasma renin and low aldosterone levels in the presence of low or normal levels of the mineralocorticoid aldosterone, that is highly resistant to antihypertensive medication. During pregnancy, there is a marked exacerbation of hypertension, accompanied by low serum potassium levels and undetectable aldosterone levels, but without signs of preeclampsia, requiring early delivery.
• Disease Hierarchy:
  DISYKSRF: Genetic disease
  DIS5V7J6: Pregnancy disorder
  DISU4CP9: Pseudohyperaldosteronism type 2
• Disease Identifiers:
  MONDO ID: MONDO_0011517
  MESH ID: C565359
  UMLS CUI: C1854631
  OMIM ID: 605115
  MedGen ID: 343170
  Orphanet ID: 88660

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
NR3C2	TT9P1CK	Limited	Autosomal dominant	[1]
NR3C2	TT26PHO	Strong	Biomarker	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NR3C2	OT0F2V2Z	Limited	Autosomal dominant	[1]

References

• [1] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
• [2] Association of a mineralocorticoid receptor gene polymorphism with hypertension in a Spanish population.Am J Hypertens. 2009 Jun;22(6):649-55. doi: 10.1038/ajh.2009.39. Epub 2009 Mar 26.