Hypertension, Early-onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy

Description

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.

Clinical Features

Phenotypes and symptoms related to Hypertension, Early-onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy

  • Hypertension
  • Decreased circulating aldosterone level
  • Decreased circulating renin level
  • Maternal hypertension

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Hypertension, Early-onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Pseudohypoaldosteronism Type 1 NGS panel.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital in United States.

SCNN1A, SCNN1G, SCNN1B, NR3C2
Specificity
25 %
Genes
100 %
ExomePLUS Electrolyte & Kidney Stone.

By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.

OCRL, HPRT1, CYP11B2, FAH, CYP24A1, AGXT, FAM20C, APRT, VDR, CDC73, CTNS, GRHPR, CASR, HSD11B2, AVPR2, AQP2, PHEX, SLC12A3, SCNN1A, SCNN1B , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
100 %
NR3C2. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

NR3C2
Specificity
100 %
Genes
100 %
Pseudohypoaldosteronism type I (sequence analysis of NR3C2 gene).

By CGC Genetics in Portugal.

NR3C2
Specificity
100 %
Genes
100 %
Pseudohyperaldosteronism type 1 (delections/duplications in NR3C2 gene).

By CGC Genetics in Portugal.

NR3C2
Specificity
100 %
Genes
100 %
Pseudohypoaldosteronism (NGS panel of 9 genes).

By CGC Genetics in Portugal.

CYP11B2, WNK1, SCNN1A, SCNN1G, SCNN1B, NR3C2, KLHL3, CUL3, WNK4
Specificity
12 %
Genes
100 %
Pseudohyperaldosteronism type 1 (delections/duplications in NR3C2 gene).

By CGC Genetics in Portugal.

NR3C2
Specificity
100 %
Genes
100 %
Pseudohypoaldosteronism (NGS panel of 9 genes).

By CGC Genetics in Portugal.

CYP11B2, WNK1, SCNN1A, SCNN1G, SCNN1B, NR3C2, KLHL3, CUL3, WNK4
Specificity
12 %
Genes
100 %
Pseudohypoaldosteronism type 1 autosomal dominant.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

NR3C2
Specificity
100 %
Genes
100 %
Liddle syndrome.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

SCNN1G, SCNN1B, NEDD4L, NR3C2, OXSR1, STK39, NEDD4
Specificity
15 %
Genes
100 %
Autosomal Dominant Pseudohypoaldosteronism Type 1 via the NR3C2 Gene.

By PreventionGenetics PreventionGenetics in United States.

NR3C2
Specificity
100 %
Genes
100 %
Pseudohypoaldosteronism Type I Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SCNN1A, SCNN1G, SCNN1B, NR3C2
Specificity
25 %
Genes
100 %
Pseudohypoaldosteronism.

By Institute of Human Genetics Cologne University in Germany.

NR3C2
Specificity
100 %
Genes
100 %
Hypertension.

By Institute of Human Genetics Cologne University in Germany.

SDHAF2, SDHC, SDHB, CYP17A1, SDHA, SDHD, WNK1, HSD11B2, SCNN1A, SCNN1G, KCNJ5, NR3C2, KLHL3, CUL3, WNK4, PDE3A
Specificity
7 %
Genes
100 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

VHL, ACAT1, ARG1, ATP7B, AUH, BCS1L, INVS, HNF1A, MMACHC, EYA1, LRP5, SLC34A1, WT1, PAX6, SDHAF2, HNF1B, RET, INPP5E, CPS1, GLB1 , (...)

View the complete list with 391 more genes
Specificity
1 %
Genes
100 %
Bartter Syndrome panel.

By Centogene AG - the Rare Disease Company in Germany.

CA2, WNK1, CASR, HSD11B2, SLC12A3, SCNN1A, SCNN1G, SCNN1B, BSND, CLCNKB, KCNJ1, SLC12A1, KCNJ10, ATP6V1B1, CLCNKA, SLC4A4, NR3C2, KLHL3, SLC4A1, WNK4 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Pseudohypoaldosteronism type I, autosomal dominant.

By Centogene AG - the Rare Disease Company in Germany.

NR3C2
Specificity
100 %
Genes
100 %
Hypertension early onset.

By Centogene AG - the Rare Disease Company in Germany.

NR3C2
Specificity
100 %
Genes
100 %
Pseudohypoaldosteronism Panel.

By CeGaT GmbH in Germany.

WNK1, HSD11B2, SCNN1A, SCNN1G, SCNN1B, NR3C2, KLHL3, CUL3, WNK4
Specificity
12 %
Genes
100 %
Pseudohypoaldosteronism type 1 autosomal dominant.

By DNAbiolab Cretan Center for Research and Development of Applications on Genetics and Molecular Biology in Greece.

NR3C2
Specificity
100 %
Genes
100 %
Pseudohypoaldosteronism.

By Praxis fuer Humangenetik Wien in Austria.

NR3C2
Specificity
100 %
Genes
100 %
NR3C2 Gene Sequencing.

By GENETIX Centro de Investigación en Genética Humana y Reproductiva in Colombia.

NR3C2
Specificity
100 %
Genes
100 %
Pseudohypoaldosteronism.

By MedGene in Slovakia.

NR3C2
Specificity
100 %
Genes
100 %
Pseudohypoaldosteronism type 1, autosomal dominant: NR3C2 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

NR3C2
Specificity
100 %
Genes
100 %
BARTTER SYNDROME.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

CA2, WNK1, CASR, HSD11B2, SLC12A3, SCNN1A, SCNN1G, SCNN1B, BSND, CLCNKB, KCNJ1, SLC12A1, KCNJ10, ATP6V1B1, CLCNKA, SLC4A4, NR3C2, KLHL3, SLC4A1, WNK4 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
NR3C2.

By Fulgent Genetics Fulgent Genetics in United States.

NR3C2
Specificity
100 %
Genes
100 %
KidneySeq - 264 Genes.

By Iowa Institute of Human Genetics University of Iowa in United States.

TTR, VHL, ATP7B, INVS, EYA1, SLC34A1, WT1, HNF1B, RET, INPP5E, CC2D2A, OCRL, JAG1, HPRT1, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290 , (...)

View the complete list with 232 more genes
Specificity
1 %
Genes
100 %
Pseudohypoaldosteronism Panel.

By Blueprint Genetics in Finland.

WNK1, HSD11B2, SCNN1A, SCNN1G, SCNN1B, KCNJ5, NR3C2, KLHL3, CUL3, WNK4
Specificity
10 %
Genes
100 %
Study of Molecular Markers Of Essential Hypertension and Associated Cardiovascular Events (37 genes - 57 genetic variants).

By HeartGenetics, Genetics and Biotechnology, SA in Portugal.

WNK1, HSD11B2, SLC12A3, SCNN1A, SCNN1B, CLCNKB, CLCNKA, AGTR2, NEDD4L, GNB3, ACE, NR3C2, NPPA, REN, NOS3, AGT, ECE1, ADRB2, AGTR1, STK39 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Pseudohypoaldosteronism type 1, autosomal dominant.

By Bioarray in Spain.

NR3C2
Specificity
100 %
Genes
100 %
EARLY-ONSET HYPERTENSION.

By Laboratorio de Genetica Clinica SL in Spain.

NR3C2
Specificity
100 %
Genes
100 %
PSEUDOHYPERALDOSTERONISM TYPE 2.

By Laboratorio de Genetica Clinica SL in Spain.

NR3C2
Specificity
100 %
Genes
100 %
PSEUDOHYPOALDOSTERONISM, RENAL, TYPE 1 (AUTOSOMAL DOMINANT).

By Laboratorio de Genetica Clinica SL in Spain.

NR3C2
Specificity
100 %
Genes
100 %
Bartter Syndrome and related disorders , Panel Massive Sequencing (NGS) 22 Genes.

By Reference Laboratory Genetics in Spain.

CA2, WNK1, CASR, HSD11B2, SLC12A3, SCNN1A, SCNN1G, SCNN1B, BSND, CLCNKB, KCNJ1, SLC12A1, KCNJ10, ATP6V1B1, CLCNKA, NR3C2, KLHL3, SLC4A1, WNK4, CLDN16 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Pseudohypoaldosteronism , Panel Massive Sequencing (NGS) 9 Genes.

By Reference Laboratory Genetics in Spain.

WNK1, HSD11B2, SCNN1A, SCNN1G, SCNN1B, NR3C2, KLHL3, CUL3, WNK4
Specificity
12 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
100 %

Alternate names

Hypertension, Early-onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy Is also known as ;early-onset hypertension with exacerbation in pregnancy; pseudohyperaldosteronism type 2.



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