Pseudohypoaldosteronism, Type Iia; Pha2a

Description

Pseudohypoaldosteronism type II (PHA2), also known as Gordon hyperkalemia-hypertension syndrome, is characterized by hyperkalemia despite normal renal glomerular filtration, hypertension, and correction of physiologic abnormalities by thiazide diuretics. Mild hyperchloremia, metabolic acidosis, and suppressed plasma renin (OMIM ) activity are variable associated findings (summary by Mansfield et al., 1997). Genetic Heterogeneity of Pseudohypoaldosteronism Type IIPHA2A has been mapped to chromosome 1q31-q42. PHA2B (OMIM ) is caused by mutations in the WNK4 gene on chromosome 17q21 (OMIM ). PHA2C (OMIM ) is caused by mutations in the WNK1 gene on chromosome 12p13 (OMIM ). PHA2D (OMIM ) is caused by mutations in the KLHL3 gene (OMIM ) on chromosome 5q31. PHA2E (OMIM ) is caused by mutations in the CUL3 gene (OMIM ) on chromosome 2q36.Boyden et al. (2012) observed that families with PHA type II due to mutation in the WNK1 gene (PHA2C) are significantly less severely affected than those with mutation in WNK4 (PHA2B) or dominant or recessive mutation in the KLHL3 gene (PHA2D), and all are less severely affected than those with dominant mutations in the CUL3 gene (PHA2E).

Clinical Features

Top most frequent phenotypes and symptoms related to Pseudohypoaldosteronism, Type Iia; Pha2a

  • Short stature
  • Growth delay
  • Muscle weakness
  • Cognitive impairment
  • Hypertension
  • Abnormality of the dentition
  • Acidosis
  • Paralysis
  • Nausea and vomiting
  • Metabolic acidosis

And another 12 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Pseudohypoaldosteronism, Type Iia; Pha2a Is also known as hypertensive hyperkalemia, familial, hyperpotassemia and hypertension, familial, gordon hyperkalemia-hypertension syndrome.

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 Iia; Pha2a 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
5 %
Genes
100 %
Pseudohypoaldosteronism type IIE (sequence analysis of CUL3 gene).

By CGC Genetics (Portugal).

CUL3
Specificity
100 %
Genes
50 %
Pseudohypoaldosteronism (NGS panel of 9 genes).

By CGC Genetics (Portugal).

SCNN1A, SCNN1B, SCNN1G, WNK1, WNK4, CUL3, CYP11B2, KLHL3, NR3C2
Specificity
23 %
Genes
100 %
Pseudohypoaldosteronism (NGS panel of 9 genes).

By CGC Genetics (Portugal).

SCNN1A, SCNN1B, SCNN1G, WNK1, WNK4, CUL3, CYP11B2, KLHL3, NR3C2
Specificity
23 %
Genes
100 %
Pseudohypoaldosteronism, type IIE.

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

CUL3
Specificity
100 %
Genes
50 %
Pseudohypoaldosteronism Type II Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

WNK1, WNK4, CUL3, KLHL3
Specificity
50 %
Genes
100 %
Pseudohypoaldosteronism Type II via CUL3 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

CUL3
Specificity
100 %
Genes
50 %
Autism Spectrum Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SCN1A, SCN2A, SGSH, BRAF, SLC6A1, SLC9A6, SPAST, CDKL5, STXBP1, SYN2, TBR1, TCF20, TCF4, TSC1, TSC2, UBE3A, BCL11A, CNTNAP2, CACNA1C, CSMD1 , (...)

View the complete list with 85 more genes
Specificity
1 %
Genes
50 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Symptoms Checker

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