Pseudohypoaldosteronism Type 2b

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Genes related to Pseudohypoaldosteronism Type 2b

WNK4

View recommended genes panels

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.

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 Panel complete gene list SCNN1A, SCNN1B, SLC12A1, SLC12A3, SLC2A2, VDR, WNK4, CASR, BSND, CDC73, SLC22A12, CLCN5, CLCNKB, SLC34A3, CLDN16, CLDN19, FAM20C, FAM20A, HOGA1, CTNS, CUL3, CYP11B2, CYP24A1, ENPP1, AGXT, FAH, FGF23, GALNT3, GATA3, GCM2, GNA11, GNAS, GRHPR, HPRT1, HSD11B2, AP2S1, KCNJ1, APRT, AQP2, KLHL3, NR3C2, OCRL, ATP6V1B1, ATP6V0A4, PHEX, AVP, AVPR2, PTH 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 %

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Sources and references

You can check the following sources for additional information.

MESH OMIM ORPHANET Rare Disease Search Engine

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