Pseudohypoaldosteronism, Type I, Autosomal Dominant; Pha1a

Description

Autosomal dominant pseudohypoaldosteronism type I is characterized by salt wasting resulting from renal unresponsiveness to mineralocorticoids. Patients may present with neonatal renal salt wasting with hyperkalaemic acidosis despite high aldosterone levels. These patients improve with age and usually become asymptomatic without treatment. Some adult patients with the disorder may have elevated aldosterone levels, but no history of clinical disease. This observation suggests that only those infants whose salt homeostasis is stressed by intercurrent illness and volume depletion develop clinically recognized PHA I (summary by Geller et al., 1998).Autosomal recessive pseudohypoaldosteronism type I (PHA1B ), caused by mutation in any one of 3 genes encoding the epithelial sodium channel (ENaC), is a similar but more severe systemic disorder with persistence into adulthood.

Clinical Features

Top most frequent phenotypes and symptoms related to Pseudohypoaldosteronism, Type I, Autosomal Dominant; Pha1a

  • Short stature
  • Failure to thrive
  • Feeding difficulties
  • Diarrhea
  • Vomiting
  • Metabolic acidosis
  • Hypotension
  • Dehydration
  • Hyponatremia
  • Increased body weight
And another 8 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Pseudohypoaldosteronism, Type I, Autosomal Dominant; Pha1a Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Pseudohypoaldosteronism Type 1 NGS panel.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital in United States.

SCNN1A, SCNN1G, SCNN1B, NR3C2
Specificity
25 %
Genes
100 %
ExomePLUS Electrolyte & Kidney Stone.

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

OCRL, HPRT1, CYP11B2, FAH, CYP24A1, AGXT, FAM20C, APRT, VDR, CDC73, CTNS, GRHPR, CASR, HSD11B2, AVPR2, AQP2, PHEX, SLC12A3, SCNN1A, SCNN1B , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
100 %
NR3C2. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

NR3C2
Specificity
100 %
Genes
100 %
Pseudohypoaldosteronism type I (sequence analysis of NR3C2 gene).

By CGC Genetics in Portugal.

NR3C2
Specificity
100 %
Genes
100 %
Pseudohyperaldosteronism type 1 (delections/duplications in NR3C2 gene).

By CGC Genetics in Portugal.

NR3C2
Specificity
100 %
Genes
100 %
Pseudohypoaldosteronism (NGS panel of 9 genes).

By CGC Genetics in Portugal.

CYP11B2, WNK1, SCNN1A, SCNN1G, SCNN1B, NR3C2, KLHL3, CUL3, WNK4
Specificity
12 %
Genes
100 %
Pseudohyperaldosteronism type 1 (delections/duplications in NR3C2 gene).

By CGC Genetics in Portugal.

NR3C2
Specificity
100 %
Genes
100 %
Pseudohypoaldosteronism (NGS panel of 9 genes).

By CGC Genetics in Portugal.

CYP11B2, WNK1, SCNN1A, SCNN1G, SCNN1B, NR3C2, KLHL3, CUL3, WNK4
Specificity
12 %
Genes
100 %
Pseudohypoaldosteronism type 1 autosomal dominant.

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

NR3C2
Specificity
100 %
Genes
100 %
Liddle syndrome.

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

SCNN1G, SCNN1B, NEDD4L, NR3C2, OXSR1, STK39, NEDD4
Specificity
15 %
Genes
100 %
Autosomal Dominant Pseudohypoaldosteronism Type 1 via the NR3C2 Gene.

By PreventionGenetics PreventionGenetics in United States.

NR3C2
Specificity
100 %
Genes
100 %
Pseudohypoaldosteronism Type I Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SCNN1A, SCNN1G, SCNN1B, NR3C2
Specificity
25 %
Genes
100 %
Pseudohypoaldosteronism.

By Institute of Human Genetics Cologne University in Germany.

NR3C2
Specificity
100 %
Genes
100 %
Hypertension.

By Institute of Human Genetics Cologne University in Germany.

SDHAF2, SDHC, SDHB, CYP17A1, SDHA, SDHD, WNK1, HSD11B2, SCNN1A, SCNN1G, KCNJ5, NR3C2, KLHL3, CUL3, WNK4, PDE3A
Specificity
7 %
Genes
100 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

VHL, ACAT1, ARG1, ATP7B, AUH, BCS1L, INVS, HNF1A, MMACHC, EYA1, LRP5, SLC34A1, WT1, PAX6, SDHAF2, HNF1B, RET, INPP5E, CPS1, GLB1 , (...)

View the complete list with 391 more genes
Specificity
1 %
Genes
100 %
Bartter Syndrome panel.

By Centogene AG - the Rare Disease Company in Germany.

CA2, WNK1, CASR, HSD11B2, SLC12A3, SCNN1A, SCNN1G, SCNN1B, BSND, CLCNKB, KCNJ1, SLC12A1, KCNJ10, ATP6V1B1, CLCNKA, SLC4A4, NR3C2, KLHL3, SLC4A1, WNK4 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Pseudohypoaldosteronism type I, autosomal dominant.

By Centogene AG - the Rare Disease Company in Germany.

NR3C2
Specificity
100 %
Genes
100 %
Hypertension early onset.

By Centogene AG - the Rare Disease Company in Germany.

NR3C2
Specificity
100 %
Genes
100 %
Pseudohypoaldosteronism Panel.

By CeGaT GmbH in Germany.

WNK1, HSD11B2, SCNN1A, SCNN1G, SCNN1B, NR3C2, KLHL3, CUL3, WNK4
Specificity
12 %
Genes
100 %
Pseudohypoaldosteronism type 1 autosomal dominant.

By DNAbiolab Cretan Center for Research and Development of Applications on Genetics and Molecular Biology in Greece.

NR3C2
Specificity
100 %
Genes
100 %
Pseudohypoaldosteronism.

By Praxis fuer Humangenetik Wien in Austria.

NR3C2
Specificity
100 %
Genes
100 %
NR3C2 Gene Sequencing.

By GENETIX Centro de Investigación en Genética Humana y Reproductiva in Colombia.

NR3C2
Specificity
100 %
Genes
100 %
Pseudohypoaldosteronism.

By MedGene in Slovakia.

NR3C2
Specificity
100 %
Genes
100 %
Pseudohypoaldosteronism type 1, autosomal dominant: NR3C2 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

NR3C2
Specificity
100 %
Genes
100 %
BARTTER SYNDROME.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

CA2, WNK1, CASR, HSD11B2, SLC12A3, SCNN1A, SCNN1G, SCNN1B, BSND, CLCNKB, KCNJ1, SLC12A1, KCNJ10, ATP6V1B1, CLCNKA, SLC4A4, NR3C2, KLHL3, SLC4A1, WNK4 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
NR3C2.

By Fulgent Genetics Fulgent Genetics in United States.

NR3C2
Specificity
100 %
Genes
100 %
KidneySeq - 264 Genes.

By Iowa Institute of Human Genetics University of Iowa in United States.

TTR, VHL, ATP7B, INVS, EYA1, SLC34A1, WT1, HNF1B, RET, INPP5E, CC2D2A, OCRL, JAG1, HPRT1, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290 , (...)

View the complete list with 232 more genes
Specificity
1 %
Genes
100 %
Pseudohypoaldosteronism Panel.

By Blueprint Genetics in Finland.

WNK1, HSD11B2, SCNN1A, SCNN1G, SCNN1B, KCNJ5, NR3C2, KLHL3, CUL3, WNK4
Specificity
10 %
Genes
100 %
Study of Molecular Markers Of Essential Hypertension and Associated Cardiovascular Events (37 genes - 57 genetic variants).

By HeartGenetics, Genetics and Biotechnology, SA in Portugal.

WNK1, HSD11B2, SLC12A3, SCNN1A, SCNN1B, CLCNKB, CLCNKA, AGTR2, NEDD4L, GNB3, ACE, NR3C2, NPPA, REN, NOS3, AGT, ECE1, ADRB2, AGTR1, STK39 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Pseudohypoaldosteronism type 1, autosomal dominant.

By Bioarray in Spain.

NR3C2
Specificity
100 %
Genes
100 %
EARLY-ONSET HYPERTENSION.

By Laboratorio de Genetica Clinica SL in Spain.

NR3C2
Specificity
100 %
Genes
100 %
PSEUDOHYPERALDOSTERONISM TYPE 2.

By Laboratorio de Genetica Clinica SL in Spain.

NR3C2
Specificity
100 %
Genes
100 %
PSEUDOHYPOALDOSTERONISM, RENAL, TYPE 1 (AUTOSOMAL DOMINANT).

By Laboratorio de Genetica Clinica SL in Spain.

NR3C2
Specificity
100 %
Genes
100 %
Bartter Syndrome and related disorders , Panel Massive Sequencing (NGS) 22 Genes.

By Reference Laboratory Genetics in Spain.

CA2, WNK1, CASR, HSD11B2, SLC12A3, SCNN1A, SCNN1G, SCNN1B, BSND, CLCNKB, KCNJ1, SLC12A1, KCNJ10, ATP6V1B1, CLCNKA, NR3C2, KLHL3, SLC4A1, WNK4, CLDN16 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Pseudohypoaldosteronism , Panel Massive Sequencing (NGS) 9 Genes.

By Reference Laboratory Genetics in Spain.

WNK1, HSD11B2, SCNN1A, SCNN1G, SCNN1B, NR3C2, KLHL3, CUL3, WNK4
Specificity
12 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
100 %

Alternate names

Pseudohypoaldosteronism, Type I, Autosomal Dominant; Pha1a Is also known as pha i, autosomal dominant;autosomal dominant pseudohypoaldosteronism type 1.


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