Pseudohypoaldosteronism Type 2e

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 2e

CUL3

View recommended genes panels

Clinical Features

Phenotypes and symptoms related to Pseudohypoaldosteronism Type 2e

Hypertension
Acidosis
Metabolic acidosis
Hyperkalemia
Pseudohypoaldosteronism
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 2e Is also known as pha2e.

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 2e 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 %
Pseudohypoaldosteronism type IIE (sequence analysis of CUL3 gene). By CGC Genetics (Portugal). CUL3 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 IIE. By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders (Germany). CUL3 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 %
Pseudohypoaldosteronism Type II via CUL3 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics (United States). CUL3 Specificity 100 % Genes 100 %
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 Panel complete gene list SCN1A, SCN2A, SGSH, BRAF, SLC6A1, SLC9A6, SPAST, CDKL5, STXBP1, SYN2, TBR1, TCF20, TCF4, TSC1, TSC2, UBE3A, BCL11A, CNTNAP2, CACNA1C, CSMD1, NSD1, AUTS2, PCDH19, NLGN4X, NLGN3, SHANK3, SHANK2, DEAF1, CACNA2D3, CTTNBP2, ADNP, TBC1D20, RAB39B, BCKDK, ZMYND11, CDC42BPB, ARID1B, ARX, MFRP, GRIP1, POGZ, ASH1L, POMGNT1, CHD2, STXBP5, ZNF407, CHD8, UPF3B, MBD5, CHD7, WDFY3, ANKRD11, CNTN6, VPS13B, MED13L, DGAT2L6, KMT5B, EHMT1, CTNND2, KATNAL2, CUL3, SETD5, PTCHD1, DHCR7, DISC1, EFR3A, ADSL, TNRC6B, ASXL3, NEXMIF, C12orf57, PACS1, CC2D1A, DSCAM, NAA15, DYRK1A, ABCA7, FMR1, FOLR1, FOXG1, FOXP1, GABRB3, GAMT, GATM, GRIN2B, HCN1, ANK2, HOXA1, KCNQ3, KRAS, SMAD4, MAGEL2, MAOA, MECP2, MYO9B, MYT1L, NDP, NFIX, NRXN1, KAT2B, PQBP1, PTEN, RAD21, RAI1, RELN Specificity 1 % Genes 100 %

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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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