Primary Aldosteronism, Seizures, And Neurologic Abnormalities; Pasna

Clinical Features

Top most frequent phenotypes and symptoms related to Primary Aldosteronism, Seizures, And Neurologic Abnormalities; Pasna

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Spasticity
  • Hypertension
  • Ventricular septal defect
  • Intellectual disability, severe
  • Blindness
  • Headache
  • Abnormality of the nervous system
And another 34 symptoms. If you need more information about this disease we can help you.
Click here to know more about Mendelian.

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Primary Aldosteronism, Seizures, And Neurologic Abnormalities; Pasna Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hearing Loss Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc in United States.

ABHD12, USH1G, USH1C, ANKH, BCS1L, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, OPA1, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23 , (...)

View the complete list with 151 more genes
Specificity
1 %
Genes
100 %
NGS Hearing Loss Panel.

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

USH1G, USH1C, EYA1, EYA4, HSD17B4, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, KARS, MYO7A, TIMM8A, MAN2B1, HARS2 , (...)

View the complete list with 71 more genes
Specificity
2 %
Genes
100 %
OtoSCOPE.

By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics in United States.

USH1G, USH1C, TWNK, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, OPA1, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, KARS , (...)

View the complete list with 132 more genes
Specificity
1 %
Genes
100 %
Hearing Loss Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

ABHD12, USH1G, USH1C, ANKH, BTD, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, WFS1, FOXC1, PITX2, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN , (...)

View the complete list with 102 more genes
Specificity
1 %
Genes
100 %
OtoGenome Test for Hearing Loss (110 Genes).

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

USH1G, USH1C, BCS1L, EYA1, PDZD7, EYA4, HSD17B4, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, HARS, DIABLO, MSRB3, KARS, MYO7A , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
100 %
Cardiac Arrhythmia NGS Multi-Gene Panel (48 genes), Sequence & CNV analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

LMNA, CAV3, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, CACNA2D1, CACNA1D, KCNE1, KCNQ1, CACNA1C, LAMP2, TRPM4, SLMAP, KCNJ8, ABCC9, SCN2B, SCN3B , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
100 %
Syndromic deafness (NGS panel for 62 genes).

By CGC Genetics in Portugal.

ABHD12, USH1G, USH1C, ANKH, EYA1, COL2A1, TYR, PDZD7, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MYO7A, TIMM8A, MANBA , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
100 %
Syndromic and non syndromic deafness (NGS panel for 127 genes).

By CGC Genetics in Portugal.

ABHD12, USH1G, USH1C, ANKH, EYA1, COL2A1, TYR, PDZD7, EYA4, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3 , (...)

View the complete list with 107 more genes
Specificity
1 %
Genes
100 %
Primary Aldosteronism Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CACNA1H, CACNA1D, KCNJ5
Specificity
34 %
Genes
100 %
Primary Aldosteronism via the CACNA1D Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CACNA1D
Specificity
100 %
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 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
Sinoatrial node dysfunction and deafness.

By Centogene AG - the Rare Disease Company in Germany.

CACNA1D
Specificity
100 %
Genes
100 %
Primary aldosteronism, seizures, and neurologic abnormalities.

By Centogene AG - the Rare Disease Company in Germany.

CACNA1D
Specificity
100 %
Genes
100 %
Syndromic Hearing Loss Panel.

By CeGaT GmbH in Germany.

ABHD12, USH1G, USH1C, ANKH, EYA1, COL2A1, TYR, PDZD7, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MYO7A, TIMM8A, MANBA , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
100 %
Epilepsy.

By Asper Biogene Asper Biogene LLC in Estonia.

UBE3A, MCCC1, ADSL, TUBB3, POLG, MECP2, GAMT, GATM, STXBP1, SLC25A22, ALG3, SLC9A6, ALDH7A1, MOCS2, MOCS1, WWOX, SLC6A8, ARX, CDKL5, FOXG1 , (...)

View the complete list with 104 more genes
Specificity
1 %
Genes
100 %
J Wave Syndrome Panel.

By Health in Code in Spain.

KCND3, KCNH2, SCN1B, HCN4, SCN5A, CACNA2D1, CACNA1D, CACNA1C, TRPM4, SLMAP, KCNJ8, ABCC9, SCN2B, SCN3B, KCNE3, CACNB2, GPD1L, PKP2, ANK2, RANGRF , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Inherited Cardiovascular Diseases and Sudden Death Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, ACADM, AGL, ACADVL, ATPAF2, GAA, COL1A1, COL1A2, COL3A1, PSEN1, ELN, EYA4, GNPTAB, GLB1, PITX2, JAG1, DSP , (...)

View the complete list with 193 more genes
Specificity
1 %
Genes
100 %
Brugada Syndrome Panel.

By Health in Code in Spain.

KCND3, KCNH2, SCN1B, HCN4, SCN5A, CACNA2D1, CACNA1D, CACNA1C, TRPM4, SLMAP, KCNJ8, ABCC9, SCN2B, SCN3B, KCNE3, CACNB2, GPD1L, PKP2, ANK2, RANGRF , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Short QT Syndrome Panel.

By Health in Code in Spain.

KCNJ2, KCNH2, CACNA2D1, CACNA1D, KCNQ1, CACNA1C, CACNB2
Specificity
15 %
Genes
100 %
Ventricular Arrythmia & Sudden Death Panel with Structural Heart Disease.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATPAF2, GAA, GNPTAB, GLB1, PITX2, DSP, DLD, SLC25A4, CRYAB, RAF1, MTO1, MRPL3, LIAS, AGK , (...)

View the complete list with 121 more genes
Specificity
1 %
Genes
100 %
Cardiac Conduction Disease Panel.

By Health in Code in Spain.

HFE, TTR, GAA, GLA, LMNA, DES, MYH7, LDB3, EMD, KCNH2, SCN1B, HCN4, SCN5A, CACNA1D, KCNQ1, LAMP2, TRPM4, KCNE2, SCN4B, ACTC1 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Ventricular Arrythmia & Sudden Death Panel without Structural Heart Disease.

By Health in Code in Spain.

ACADM, DSP, LMNA, CAV3, DES, FLNC, TMEM43, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, CACNA2D1, CACNA1D, KCNE1, KCNQ1, CACNA1C, LAMP2, TRPM4 , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
100 %
Ventricular arrhythmia and sudden death without structural heart disease.

By Health in Code in Spain.

HFE, TTR, GAA, DSP, CAVIN1, GLA, LMNA, CAV3, DES, MYH7, FLNC, LDB3, SYNE1, TMEM43, SYNE2, EMD, KCNJ2, KCND3, KCNH2, SCN1B , (...)

View the complete list with 57 more genes
Specificity
2 %
Genes
100 %
Cardiovascular Diseases_General Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATP7A, ATPAF2, B4GALT7, GAA, HNF1A, NEUROD1, PPARG, COL1A1, COL1A2, COL3A1, ELAC2, PSEN1, HNF1B , (...)

View the complete list with 360 more genes
Specificity
1 %
Genes
100 %
Short QT syndrome.

By Health in Code in Spain.

KCNJ2, KCNH2, CACNA2D1, CACNA1D, KCNQ1, CACNA1C, CACNB2
Specificity
15 %
Genes
100 %
Cardiac conduction disease Panel.

By Health in Code in Spain.

HFE, TTR, GAA, GLA, LMNA, DES, MYH7, LDB3, SYNE1, SYNE2, EMD, KCNJ2, KCNH2, SCN1B, HCN4, SCN5A, CACNA1D, KCNQ1, LAMP2, TRPM4 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Brugada syndrome / J wave syndrome.

By Health in Code in Spain.

KCND3, KCNH2, SCN1B, HCN4, SCN5A, CACNA2D1, CACNA1D, CACNA1C, TRPM4, SLMAP, KCNJ8, ABCC9, SCN2B, SCN3B, KCNE3, CACNB2, GPD1L, PKP2, ANK2, RANGRF , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Arrhythmia General Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATPAF2, GAA, ELAC2, PSEN1, EYA4, GNPTAB, GLB1, PITX2, DSP, DLD, SLC25A4, FOXRED1, CRYAB , (...)

View the complete list with 198 more genes
Specificity
1 %
Genes
100 %
Hearing Loss: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ABHD12, USH1G, USH1C, BTD, EYA1, COL2A1, EYA4, HSD17B4, OPA1, WFS1, FOXC1, PITX2, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO , (...)

View the complete list with 111 more genes
Specificity
1 %
Genes
100 %
CACNA1D.

By Fulgent Genetics Fulgent Genetics in United States.

CACNA1D
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 %
Comprehensive Hearing Loss and Deafness Panel.

By Blueprint Genetics in Finland.

ABHD12, USH1G, USH1C, ANKH, BTD, BCS1L, TWNK, EYA1, COL2A1, TYR, PDZD7, EYA4, HSD17B4, TRMU, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15 , (...)

View the complete list with 159 more genes
Specificity
1 %
Genes
100 %
Syndromic Hearing Loss Panel.

By Blueprint Genetics in Finland.

ABHD12, USH1G, USH1C, ANKH, BTD, BCS1L, TWNK, EYA1, COL2A1, TYR, PDZD7, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23 , (...)

View the complete list with 66 more genes
Specificity
2 %
Genes
100 %
Cardiac Arrhythmia Exome Panel.

By Northwest Clinical Genomics Laboratory University of Washington in United States.

DSP, GLA, LMNA, CAV3, TTN, DES, LDB3, TMEM43, EMD, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, CACNA1D, KCNE1, KCNQ1, CACNA1C, TRPM4 , (...)

View the complete list with 31 more genes
Specificity
2 %
Genes
100 %
Caris MI TumorSeek 592-Gene NGS Panel.

By Caris Life Sciences in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, FOXL2, HNF1A, PPARG, COL1A1, WT1, RB1, SDHAF2 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
100 %
Ventricular Arrhythmia and Sudden Cardiac Death , Panel Massive Sequencing (NGS) 48 Genes.

By Reference Laboratory Genetics in Spain.

ACADM, DSP, LMNA, CAV3, TTN, DES, FLNC, TMEM43, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, CACNA1D, KCNE1, KCNQ1, CACNA1C, LAMP2, TRPM4 , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
100 %
Neuromuscular Channelopathies , Panel Massive Sequencing (NGS) 44 Genes.

By Reference Laboratory Genetics in Spain.

GAA, STXBP1, SLC25A22, GBE1, ARX, CDKL5, DMPK, PCDH19, CHRNE, SCN1A, CLCN1, SCN4A, CACNA1A, ATP2A1, CACNA1S, RYR1, CHRNA1, CHRND, CHRNB1, CHRNB2 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Cardiac Conduction System Related Disorders , Panel Massive Sequencing (NGS) 20 Genes.

By Reference Laboratory Genetics in Spain.

TTR, GAA, GLA, LMNA, DES, EMD, KCNJ2, SCN1B, HCN4, SCN5A, CACNA1D, LAMP2, TRPM4, ACTC1, NKX2-5, PRKAG2, TBX5, GJA5, SCN10A, TNNI3K
Specificity
5 %
Genes
100 %

Alternate names

Primary Aldosteronism, Seizures, And Neurologic Abnormalities; Pasna Is also known as ;apa with seizures and neurological abnormalities; aldosterone-secreting adenoma with seizures and neurological abnormalities; conn adenoma with seizures and neurological abnormalities.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like WRINKLY SKIN SYNDROME; WSS THYROID HYPOPLASIA

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more