Pseudohypoaldosteronism Type 2b

Clinical Features

Phenotypes and symptoms related to Pseudohypoaldosteronism Type 2b

  • Hypertension
  • Acidosis
  • Hypoglycemia
  • Hyperkalemia
  • Renal tubular acidosis
  • Pseudohypoaldosteronism
  • Proximal renal tubular acidosis
  • Hyperchloremic metabolic acidosis
  • Hyperchloremia

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 2b Is also known as pha2b.

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 2b 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 %
WNK4. Sequencing of the exons 7 and 17.

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

WNK4
Specificity
100 %
Genes
100 %
WNK4. Complete sequencing.

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

WNK4
Specificity
100 %
Genes
100 %
Pseudohypoaldosteronism type IIB (sequence analysis of WNK4 gene).

By CGC Genetics (Portugal).

WNK4
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 IIB.

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

WNK4
Specificity
100 %
Genes
100 %
Wilms tumor, type 1.

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

WNK4
Specificity
100 %
Genes
100 %

We have 24 more panels available in our App

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Sources and references

You can check the following sources for additional information.

MESH OMIM ORPHANET Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MITCHELL-RILEY SYNDROME; MTCHRS MEDULLARY CYSTIC KIDNEY DISEASE 2; MCKD2 GALACTOKINASE DEFICIENCY HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY; HHRH UROFACIAL SYNDROME 1; UFS1 EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1; EDSMC1 LYSOSOMAL ACID LIPASE DEFICIENCY

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