Pseudohypoaldosteronism, Type I, Autosomal Recessive; Pha1b

Description

Autosomal recessive pseudohypoaldosteronism type I is characterized by renal salt wasting and high concentrations of sodium in sweat, stool, and saliva. The disorder involves multiple organ systems and is especially threatening in the neonatal period. Laboratory evaluation shows hyponatremia, hyperkalemia, and increased plasma renin activity with high serum aldosterone concentrations. Respiratory tract infections are common in affected children and may be mistaken for cystic fibrosis (CF ). Aggressive salt replacement and control of hyperkalemia results in survival, and the disorder appears to become less severe with age (review by Scheinman et al., 1999).A milder, autosomal dominant form of type I pseudohypoaldosteronism (PHA1A ) is caused by mutations in the mineralocorticoid receptor gene (MCR, NR3C2; {600983}).Gitelman syndrome (OMIM ), another example of primary renal tubular salt wasting, is due to mutation in the thiazide-sensitive sodium-chloride cotransporter (SLC12A3 ).Hanukoglu and Hanukoglu (2016) provided a detailed review of the ENaC gene family, including structure, function, tissue distribution, and associated inherited diseases.

Clinical Features

Top most frequent phenotypes and symptoms related to Pseudohypoaldosteronism, Type I, Autosomal Recessive; Pha1b

  • Failure to thrive
  • Diarrhea
  • Vomiting
  • Recurrent respiratory infections
  • Acidosis
  • Feeding difficulties in infancy
  • Respiratory tract infection
  • Metabolic acidosis
  • Hypotension
  • Dehydration
And another 9 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 Recessive; Pha1b Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Pseudohypoaldosteronism Type 1 Evaluation (SCNN1A, SCNN1B, SCNN1G).

By Athena Diagnostics Inc in United States.

SCNN1A, SCNN1G, SCNN1B
Specificity
100 %
Genes
100 %
SCNN1G DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

SCNN1G
Specificity
100 %
Genes
34 %
Monogenic Hypertension Evaluation.

By Athena Diagnostics Inc in United States.

CYP11B1, HSD11B2, SCNN1G, SCNN1B
Specificity
50 %
Genes
67 %
Liddle's Syndrome Evaluation.

By Athena Diagnostics Inc in United States.

SCNN1G, SCNN1B
Specificity
100 %
Genes
67 %
Comprehensive Pulmonary Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

INVS, FBLN5, ELN, DTNBP1, RPGR, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CCDC39, AP3B1, ALMS1, STAT3, CFTR, FOXF1, TINF2, TSC2, TSC1 , (...)

View the complete list with 73 more genes
Specificity
4 %
Genes
100 %
Primary Ciliary Dyskinesia and Cystic Fibrosis Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

INVS, RPGR, CCDC39, CFTR, SCNN1A, SCNN1G, SCNN1B, OFD1, DNAH8, DNAH1, MCIDAS, TTC25, DNAJB13, GAS8, RSPH3, CENPF, CCDC151, CCNO, SPAG1, CCDC65 , (...)

View the complete list with 22 more genes
Specificity
8 %
Genes
100 %
Cystic Fibrosis and CF-Related Disorders NGS Panel.

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

CFTR, SCNN1A, SCNN1G, SCNN1B, CA12
Specificity
60 %
Genes
100 %
Cystic Fibrosis Related Disorders NGS Panel.

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

SCNN1A, SCNN1G, SCNN1B, CA12
Specificity
75 %
Genes
100 %
Pseudohypoaldosteronism Type 1 NGS panel.

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

SCNN1A, SCNN1G, SCNN1B, NR3C2
Specificity
75 %
Genes
100 %
Liddle Syndrome (pseudoprimary hyperaldosteronism).

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

SCNN1G, SCNN1B
Specificity
100 %
Genes
67 %
Liddle syndrome.

By Genetics Laboratory University of Oklahoma Health Sciences Center in United States.

SCNN1G
Specificity
100 %
Genes
34 %
Bronchiectasis Panel (17 Genes).

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

CCDC39, CFTR, SCNN1A, SCNN1G, SCNN1B, RSPH1, DNAL1, CCDC40, DNAAF1, RSPH9, RSPH4A, DNAAF2, DNAI2, DNAH11, NME8, DNAH5, DNAI1
Specificity
18 %
Genes
100 %
PulmoGene Panel (64 Genes).

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

FBLN5, RET, ELN, DTNBP1, RPGR, FBN1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CCDC39, AP3B1, STAT3, CFTR, FOXF1, HRAS, TSC2, TSC1 , (...)

View the complete list with 44 more genes
Specificity
5 %
Genes
100 %
SCNN1G. Complete sequencing.

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

SCNN1G
Specificity
100 %
Genes
34 %
SCNN1G. Complete sequencing.

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

SCNN1G
Specificity
100 %
Genes
34 %
Liddle syndrome (sequence analysis of SCNN1G gene).

By CGC Genetics in Portugal.

SCNN1G
Specificity
100 %
Genes
34 %
Pseudohypoaldosteronism type I (sequence analysis of SCNN1G gene).

By CGC Genetics in Portugal.

SCNN1G
Specificity
100 %
Genes
34 %
Pseudohypoaldosteronism (NGS panel of 9 genes).

By CGC Genetics in Portugal.

CYP11B2, WNK1, SCNN1A, SCNN1G, SCNN1B, NR3C2, KLHL3, CUL3, WNK4
Specificity
34 %
Genes
100 %
Pseudohypoaldosteronism (NGS panel of 9 genes).

By CGC Genetics in Portugal.

CYP11B2, WNK1, SCNN1A, SCNN1G, SCNN1B, NR3C2, KLHL3, CUL3, WNK4
Specificity
34 %
Genes
100 %
Pseudohypoaldosteronism type 1 autosomal recessive.

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

SCNN1A, SCNN1G, SCNN1B
Specificity
100 %
Genes
100 %
Bronchiectasis.

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

SCNN1A, SCNN1G, SCNN1B
Specificity
100 %
Genes
100 %
Bronchiectasis with or without elevated sweat chloride 3.

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

SCNN1G
Specificity
100 %
Genes
34 %
Liddle syndrome.

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

SCNN1G, SCNN1B, NEDD4L, NR3C2, OXSR1, STK39, NEDD4
Specificity
29 %
Genes
67 %
Bronchiectasis with or without elevated sweat chloride 3.

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

SCNN1G
Specificity
100 %
Genes
34 %
Liddle syndrome and Autosomal Recessive Pseudohypoaldosteronism Type 1 via the SCNN1G Gene.

By PreventionGenetics PreventionGenetics in United States.

SCNN1G
Specificity
100 %
Genes
34 %
Pseudohypoaldosteronism Type I Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SCNN1A, SCNN1G, SCNN1B, NR3C2
Specificity
75 %
Genes
100 %
Liddle syndrome.

By Institute of Human Genetics Cologne University in Germany.

SCNN1G, SCNN1B
Specificity
100 %
Genes
67 %
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
13 %
Genes
67 %
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
12 %
Genes
100 %
Pseudohypoaldosteronism, type I, autosomal recessive.

By Centogene AG - the Rare Disease Company in Germany.

SCNN1G
Specificity
100 %
Genes
34 %
Liddle syndrome.

By Centogene AG - the Rare Disease Company in Germany.

SCNN1G
Specificity
100 %
Genes
34 %
Comprehensive pulmonary disease panel.

By Centogene AG - the Rare Disease Company in Germany.

FBLN5, RET, ELN, DTNBP1, FBN1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CCDC39, AP3B1, STAT3, CFTR, FOXF1, TINF2, TSC2, TSC1, PHOX2B , (...)

View the complete list with 46 more genes
Specificity
5 %
Genes
100 %
Pseudohypoaldosteronism Panel.

By CeGaT GmbH in Germany.

WNK1, HSD11B2, SCNN1A, SCNN1G, SCNN1B, NR3C2, KLHL3, CUL3, WNK4
Specificity
34 %
Genes
100 %
Single gene testing SCNN1G.

By CeGaT GmbH in Germany.

SCNN1G
Specificity
100 %
Genes
34 %
Pseudohypoaldosteronism type 1, autosomal reccesive: SCNN1G gene sequence analysis.

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

SCNN1G
Specificity
100 %
Genes
34 %
Liddle syndrome: SCNN1G gene sequence analysis.

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

SCNN1G
Specificity
100 %
Genes
34 %
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
12 %
Genes
100 %
Ciliopathies: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

VHL, AIPL1, USH1G, USH1C, INVS, SPATA7, CC2D2A, TMEM67, KCNJ13, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4 , (...)

View the complete list with 92 more genes
Specificity
3 %
Genes
100 %
Bronchiectasis: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

CCDC39, CFTR, SCNN1A, SCNN1G, SCNN1B, DNAL1, CCDC40, DNAAF1, RSPH9, RSPH4A, DNAAF2, DNAI2, DNAH11, NME8, DNAH5, DNAI1
Specificity
19 %
Genes
100 %
Pulmonary Disease: Comprehensive Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FBLN5, RET, ELN, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CCDC39, AP3B1, STAT3, CFTR, TSC2, TSC1, PHOX2B, FLCN, ENG, SERPINA1 , (...)

View the complete list with 33 more genes
Specificity
6 %
Genes
100 %
Bronchiectasis: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

CCDC39, CFTR, SCNN1A, SCNN1G, SCNN1B, DNAL1, CCDC40, DNAAF1, RSPH9, RSPH4A, DNAAF2, DNAI2, DNAH11, NME8, DNAH5, DNAI1
Specificity
19 %
Genes
100 %
Bronchiectasis NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

CCDC39, CFTR, SCNN1A, SCNN1G, SCNN1B, DNAL1, CCDC40, DNAAF1, RSPH9, RSPH4A, DNAAF2, DNAI2, DNAH11, NME8, DNAH5, DNAI1
Specificity
19 %
Genes
100 %
Lung Disorders NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

FBLN5, RET, ELN, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CCDC39, AP3B1, CFTR, TSC2, TSC1, PHOX2B, FLCN, ENG, SERPINA1, SCNN1A , (...)

View the complete list with 31 more genes
Specificity
6 %
Genes
100 %
SCNN1G.

By Fulgent Genetics Fulgent Genetics in United States.

SCNN1G
Specificity
100 %
Genes
34 %
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
2 %
Genes
100 %
Cardiomyopathy Panel.

By Blueprint Genetics in Finland.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, GAA, ELAC2, CPT2, GLB1, TRIM32, DSP, SLC25A4, FOXRED1, NDUFAF2, CRYAB, HADHA, RAF1, VCP, MTO1 , (...)

View the complete list with 135 more genes
Specificity
2 %
Genes
67 %
Pseudohypoaldosteronism Panel.

By Blueprint Genetics in Finland.

WNK1, HSD11B2, SCNN1A, SCNN1G, SCNN1B, KCNJ5, NR3C2, KLHL3, CUL3, WNK4
Specificity
30 %
Genes
100 %
Liddle Syndrome Panel.

By Blueprint Genetics in Finland.

SCNN1G, SCNN1B
Specificity
100 %
Genes
67 %
Comprehensive Cardiology Panel.

By Blueprint Genetics in Finland.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, GAA, ELAC2, CPT2, GLB1, TRIM32, DSP, SLC25A4, FOXRED1, NDUFAF2, CRYAB, HADHA, RAF1, VCP, MTO1 , (...)

View the complete list with 165 more genes
Specificity
2 %
Genes
67 %
Liddle syndrome.

By Bioarray in Spain.

SCNN1G
Specificity
100 %
Genes
34 %
Pseudohypoaldosteronism type 1, autosomal recessive.

By Bioarray in Spain.

SCNN1G
Specificity
100 %
Genes
34 %
LIDDLE SYNDROME (PSEUDOALDOSTERONISM).

By Laboratorio de Genetica Clinica SL in Spain.

SCNN1G, SCNN1B
Specificity
100 %
Genes
67 %
PSEUDOHYPOALDOSTERONISM, GENERALIZED, TYPE 1 (AUTOSOMAL RECESSIVE).

By Laboratorio de Genetica Clinica SL in Spain.

SCNN1A, SCNN1G, SCNN1B
Specificity
100 %
Genes
100 %
PSEUDOHYPERALDOSTERONISM TYPE 1 (LIDDLE SYNDROME).

By Laboratorio de Genetica Clinica SL in Spain.

SCNN1G, SCNN1B
Specificity
100 %
Genes
67 %
Autosomal Dominant Pseudohypoaldosteronism Type 1 , Sequencing SCNN1G Gene.

By Reference Laboratory Genetics in Spain.

SCNN1G
Specificity
100 %
Genes
34 %
Liddle Disease, Sequencing SCNN1G Gene.

By Reference Laboratory Genetics in Spain.

SCNN1G
Specificity
100 %
Genes
34 %
Autosomal Recessive Pseudohypoaldosteronism Type 1 , Sequencing SCNN1G Gene.

By Reference Laboratory Genetics in Spain.

SCNN1G
Specificity
100 %
Genes
34 %
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
14 %
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
34 %
Genes
100 %
SCNN1A DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

SCNN1A
Specificity
100 %
Genes
34 %
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
5 %
Genes
67 %
SCNN1A. Complete sequencing.

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

SCNN1A
Specificity
100 %
Genes
34 %
Bronchiectasis with or without elevated sweat chloride type 2 (sequence analysis of SCNN1A gene).

By CGC Genetics in Portugal.

SCNN1A
Specificity
100 %
Genes
34 %
Pseudohypoaldosteronism type I (sequence analysis of SCNN1A gene).

By CGC Genetics in Portugal.

SCNN1A
Specificity
100 %
Genes
34 %
Bronchiectasis with or without elevated sweat chloride 2.

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

SCNN1A
Specificity
100 %
Genes
34 %
Bronchiectasis with or without elevated sweat chloride 2.

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

SCNN1A
Specificity
100 %
Genes
34 %
Autosomal Recessive Pseudohypoaldosteronism Type 1 via the SCNN1A Gene.

By PreventionGenetics PreventionGenetics in United States.

SCNN1A
Specificity
100 %
Genes
34 %
Pseudohypoaldosteronism, type I, autosomal recessive.

By Centogene AG - the Rare Disease Company in Germany.

SCNN1A
Specificity
100 %
Genes
34 %
Bronchiectasis with or without elevated sweat chloride 2.

By Centogene AG - the Rare Disease Company in Germany.

SCNN1A
Specificity
100 %
Genes
34 %
SCNN1A.

By Fulgent Genetics Fulgent Genetics in United States.

SCNN1A
Specificity
100 %
Genes
34 %
Comprehensive Pulmonology Panel.

By Blueprint Genetics in Finland.

FBLN5, RET, ELN, SMPD1, MECP2, HPS1, HPS4, CCDC39, CHAT, STAT3, CFTR, FOXF1, TINF2, TSC2, TSC1, PHOX2B, FLCN, CHRNE, SERPINA1, SLC7A7 , (...)

View the complete list with 46 more genes
Specificity
4 %
Genes
67 %
Bronchiectasis Panel.

By Blueprint Genetics in Finland.

CCDC39, CFTR, SCNN1A, SCNN1B, DNAL1, CCDC40, DNAAF1, RSPH9, RSPH4A, DNAAF2, DNAI2, DNAH11, NME8, DNAH5, DNAI1
Specificity
14 %
Genes
67 %
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
8 %
Genes
67 %
Pseudohypoaldosteronism type 1, autosomal recessive.

By Bioarray in Spain.

SCNN1A
Specificity
100 %
Genes
34 %
Autosomal Recessive Pseudohypoaldosteronism Type 1 , Sequencing SCNN1A Gene.

By Reference Laboratory Genetics in Spain.

SCNN1A
Specificity
100 %
Genes
34 %
SCNN1B DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

SCNN1B
Specificity
100 %
Genes
34 %
Liddle syndrome.

By Genetics Laboratory University of Oklahoma Health Sciences Center in United States.

SCNN1B
Specificity
100 %
Genes
34 %
SCNN1B . Complete sequencing.

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

SCNN1B
Specificity
100 %
Genes
34 %
SCNN1B . Complete sequencing.

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

SCNN1B
Specificity
100 %
Genes
34 %
Liddle syndrome (sequence analysis of SCNN1B gene).

By CGC Genetics in Portugal.

SCNN1B
Specificity
100 %
Genes
34 %
Pseudohypoaldosteronism type I (sequence analysis of SCNN1B gene).

By CGC Genetics in Portugal.

SCNN1B
Specificity
100 %
Genes
34 %
Bronchiectasis with or without elevated sweat chloride 1.

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

SCNN1B
Specificity
100 %
Genes
34 %
Liddle Syndrome and Autosomal Recessive Pseudohypoaldosteronism Type 1 via the SCNN1B Gene.

By PreventionGenetics PreventionGenetics in United States.

SCNN1B
Specificity
100 %
Genes
34 %
Pseudohypoaldosteronism, type I, autosomal recessive.

By Centogene AG - the Rare Disease Company in Germany.

SCNN1B
Specificity
100 %
Genes
34 %
Liddle syndrome.

By Centogene AG - the Rare Disease Company in Germany.

SCNN1B
Specificity
100 %
Genes
34 %
Single gene testing SCNN1B.

By CeGaT GmbH in Germany.

SCNN1B
Specificity
100 %
Genes
34 %
Liddle syndrome: SCNN1B gene sequence analysis.

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

SCNN1B
Specificity
100 %
Genes
34 %
Pseudohypoaldosteronism type 1, autosomal reccesive: SCNN1B gene sequence analysis.

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

SCNN1B
Specificity
100 %
Genes
34 %
SCNN1B.

By Fulgent Genetics Fulgent Genetics in United States.

SCNN1B
Specificity
100 %
Genes
34 %
Liddle syndrome.

By Bioarray in Spain.

SCNN1B
Specificity
100 %
Genes
34 %
Pseudohypoaldosteronism type 1, autosomal recessive.

By Bioarray in Spain.

SCNN1B
Specificity
100 %
Genes
34 %
Liddle Disease, Sequencing SCNN1B Gene.

By Reference Laboratory Genetics in Spain.

SCNN1B
Specificity
100 %
Genes
34 %
Autosomal Recessive Pseudohypoaldosteronism Type 1 , Sequencing SCNN1B Gene.

By Reference Laboratory Genetics in Spain.

SCNN1B
Specificity
100 %
Genes
34 %

Alternate names

Pseudohypoaldosteronism, Type I, Autosomal Recessive; Pha1b Is also known as pha i, autosomal recessive;autosomal recessive pseudohypoaldosteronism type 1.



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