Pseudohypoaldosteronism Type 2d

Description

Familial hyperkalemic hypertension, also known as type II pseudohypoaldosteronism (PHAII) or Gordon syndrome, is a rare autosomal dominant disease in which a net positive sodium ion balance is associated with renal potassium ion retention, resulting in hypertension, hyperkalemia, and hyperchloremic metabolic acidosis (summary by Louis-Dit-Picard et al., 2012). Genetic Heterogeneity of Type II PseudohypoaldosteronismFor a discussion of genetic heterogeneity of type II pseudohypoaldosteronism, see PHA2A (OMIM ).

Clinical Features

Phenotypes and symptoms related to Pseudohypoaldosteronism Type 2d

  • Hypertension
  • Acidosis
  • Metabolic acidosis
  • Hyperkalemia
  • Pseudohypoaldosteronism
  • Hyperchloremic metabolic acidosis
  • Hyperchloremia

Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Pseudohypoaldosteronism Type 2d Is also known as pha2d, familial hyperkalemic hypertension, fhht.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Pseudohypoaldosteronism Type 2d Recommended genes panels

Panel Name, Specifity and genes Tested/covered
ExomePLUS Electrolyte & Kidney Stone.

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

SCNN1A, SCNN1B, SLC12A1, SLC12A3, SLC2A2, VDR, WNK4, CASR, BSND, CDC73, SLC22A12, CLCN5, CLCNKB, SLC34A3, CLDN16, CLDN19, FAM20C, FAM20A, HOGA1, CTNS , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
100 %
Cardiomyopathy and Arrhythmia Panel, Sequencing and Deletion/Duplication.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

RYR2, SCN1B, SCN2B, SCN4B, SCN5A, SCO2, SGCA, SGCB, SGCD, SGCG, SLC25A4, SNTA1, TAZ, TCAP, TGFB3, TMPO, TNNC1, TNNI3, TNNT2, TPM1 , (...)

View the complete list with 65 more genes
Specificity
2 %
Genes
100 %
KLHL3. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

KLHL3
Specificity
100 %
Genes
100 %
Pseudohypoaldosteronism type IID (sequence analysis of KLHL3 gene).

By CGC Genetics (Portugal).

KLHL3
Specificity
100 %
Genes
100 %
Pseudohypoaldosteronism (NGS panel of 9 genes).

By CGC Genetics (Portugal).

SCNN1A, SCNN1B, SCNN1G, WNK1, WNK4, CUL3, CYP11B2, KLHL3, NR3C2
Specificity
12 %
Genes
100 %
Pseudohypoaldosteronism (NGS panel of 9 genes).

By CGC Genetics (Portugal).

SCNN1A, SCNN1B, SCNN1G, WNK1, WNK4, CUL3, CYP11B2, KLHL3, NR3C2
Specificity
12 %
Genes
100 %
Pseudohypoaldosteronism, type IID-KLHL3.

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

KLHL3
Specificity
100 %
Genes
100 %
Pseudohypoaldosteronism Type II Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

WNK1, WNK4, CUL3, KLHL3
Specificity
25 %
Genes
100 %

We have 23 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Symptoms Checker

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