PASNA
MCID: PRM183
MIFTS: 26

Primary Aldosteronism, Seizures, and Neurologic Abnormalities (PASNA)

Categories: Endocrine diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Primary Aldosteronism, Seizures, and Neurologic Abnormalities

MalaCards integrated aliases for Primary Aldosteronism, Seizures, and Neurologic Abnormalities:

Name: Primary Aldosteronism, Seizures, and Neurologic Abnormalities 57 72 29 6 70
Pasna 57 72
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome 58
Aldosteronism, Primary, Seizures, and Neurologic Abnormalities 39

Characteristics:

Orphanet epidemiological data:

58
primary hyperaldosteronism-seizures-neurological abnormalities syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
two unrelated girls reported (last curated october 2013)


HPO:

31
primary aldosteronism, seizures, and neurologic abnormalities:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare endocrine diseases


Summaries for Primary Aldosteronism, Seizures, and Neurologic Abnormalities

UniProtKB/Swiss-Prot : 72 Primary aldosteronism, seizures, and neurologic abnormalities: A disorder characterized by hypertension, hypokalemia, and high aldosterone levels with low plasma renin activity and an elevated aldosterone/renin ratio. Other features include generalized seizures, cerebral palsy, spasticity, intellectual disability, and developmental delay.

MalaCards based summary : Primary Aldosteronism, Seizures, and Neurologic Abnormalities, also known as pasna, is related to seizure disorder, and has symptoms including myoclonic seizures An important gene associated with Primary Aldosteronism, Seizures, and Neurologic Abnormalities is CACNA1D (Calcium Voltage-Gated Channel Subunit Alpha1 D). Affiliated tissues include heart, and related phenotypes are hypertension and hyperaldosteronism

More information from OMIM: 615474

Related Diseases for Primary Aldosteronism, Seizures, and Neurologic Abnormalities

Diseases related to Primary Aldosteronism, Seizures, and Neurologic Abnormalities via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 seizure disorder 10.2

Symptoms & Phenotypes for Primary Aldosteronism, Seizures, and Neurologic Abnormalities

Human phenotypes related to Primary Aldosteronism, Seizures, and Neurologic Abnormalities:

58 31 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 58 31 obligate (100%) Obligate (100%) HP:0000822
2 hyperaldosteronism 58 31 obligate (100%) Obligate (100%) HP:0000859
3 abnormal circulating renin 58 31 obligate (100%) Obligate (100%) HP:0040084
4 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
5 hypokalemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002900
6 cerebral palsy 58 31 hallmark (90%) Very frequent (99-80%) HP:0100021
7 ventricular hypertrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001714
8 polydipsia 58 31 frequent (33%) Frequent (79-30%) HP:0001959
9 intellectual disability, severe 58 31 frequent (33%) Frequent (79-30%) HP:0010864
10 pulmonary arterial hypertension 58 31 occasional (7.5%) Frequent (79-30%) HP:0002092
11 spastic paraplegia 58 31 frequent (33%) Frequent (79-30%) HP:0001258
12 focal impaired awareness seizure 58 31 frequent (33%) Frequent (79-30%) HP:0002384
13 athetosis 58 31 occasional (7.5%) Frequent (79-30%) HP:0002305
14 cerebral visual impairment 58 31 occasional (7.5%) Frequent (79-30%) HP:0100704
15 metabolic alkalosis 58 31 frequent (33%) Frequent (79-30%) HP:0200114
16 second degree atrioventricular block 58 31 frequent (33%) Frequent (79-30%) HP:0011706
17 caesarian section 58 31 frequent (33%) Frequent (79-30%) HP:0011410
18 emg: impaired neuromuscular transmission 58 31 frequent (33%) Frequent (79-30%) HP:0100285
19 bilateral tonic-clonic seizure 31 frequent (33%) HP:0002069
20 focal myoclonic seizure 31 frequent (33%) HP:0011166
21 nephrolithiasis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000787
22 ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001629
23 epistaxis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000421
24 intracranial hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0002170
25 headache 58 31 occasional (7.5%) Occasional (29-5%) HP:0002315
26 tinnitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000360
27 nausea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002018
28 spastic tetraplegia 31 occasional (7.5%) HP:0002510
29 patent foramen ovale 31 occasional (7.5%) HP:0001655
30 biventricular hypertrophy 31 occasional (7.5%) HP:0200128
31 adrenal hyperplasia 58 31 very rare (1%) Very rare (<4-1%) HP:0008221
32 seizures 58 Very frequent (99-80%)
33 left ventricular hypertrophy 31 HP:0001712
34 generalized tonic-clonic seizures 58 Frequent (79-30%)
35 decreased circulating renin level 31 HP:0003351
36 dexamethasone-suppresible primary hyperaldosteronism 58 Excluded (0%)
37 focal myoclonic seizures 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
global developmental delay
cerebral palsy
seizures, generalized tonic-clonic
seizures, myoclonic
seizures, complex partial
more
Cardiovascular Heart:
left ventricular hypertrophy
biventricular hypertrophy (in one patient)
ventricular septal defect (in one patient)
patent foramen ovale (in one patient)
second-degree heart block (in one patient)

Endocrine Features:
low plasma renin activity
elevated aldosterone
high aldosterone/renin ratio

Cardiovascular Vascular:
hypertension, neonatal
pulmonary artery hypertension (in one patient)

Neurologic Peripheral Nervous System:
movement disorder

Laboratory Abnormalities:
hypokalemia

Metabolic Features:
metabolic alkalosis

Head And Neck Eyes:
cortical blindness (in one patient)

Genitourinary Kidneys:
renal stones (in one patient)

Neurologic Behavioral Psychiatric Manifestations:
verbal outbursts (in one patient)

Clinical features from OMIM®:

615474 (Updated 05-Apr-2021)

UMLS symptoms related to Primary Aldosteronism, Seizures, and Neurologic Abnormalities:


myoclonic seizures

Drugs & Therapeutics for Primary Aldosteronism, Seizures, and Neurologic Abnormalities

Search Clinical Trials , NIH Clinical Center for Primary Aldosteronism, Seizures, and Neurologic Abnormalities

Genetic Tests for Primary Aldosteronism, Seizures, and Neurologic Abnormalities

Genetic tests related to Primary Aldosteronism, Seizures, and Neurologic Abnormalities:

# Genetic test Affiliating Genes
1 Primary Aldosteronism, Seizures, and Neurologic Abnormalities 29 CACNA1D

Anatomical Context for Primary Aldosteronism, Seizures, and Neurologic Abnormalities

MalaCards organs/tissues related to Primary Aldosteronism, Seizures, and Neurologic Abnormalities:

40
Heart

Publications for Primary Aldosteronism, Seizures, and Neurologic Abnormalities

Articles related to Primary Aldosteronism, Seizures, and Neurologic Abnormalities:

# Title Authors PMID Year
1
Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism. 57 6
23913001 2013
2
GENETICS IN ENDOCRINOLOGY: The expanding genetic horizon of primary aldosteronism. 61
29348113 2018
3
[The third case report a patient with primary aldosteronism, seizures, and neurologic abnormalities (PASNA) syndrome de novo variant mutations in the CACNA1D gene]. 61
30698561 2018
4
New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy. 61
28472301 2017
5
SFE/SFHTA/AFCE consensus on primary aldosteronism, part 5: Genetic diagnosis of primary aldosteronism. 61
27315758 2016
6
An Update on Familial Hyperaldosteronism. 61
26445452 2015
7
Determination of m-aminophenol (MAP) in p-aminosalicylic acid (PAS) and sodium p-aminosalicylate (PASNa). 61
14467221 1962

Variations for Primary Aldosteronism, Seizures, and Neurologic Abnormalities

ClinVar genetic disease variations for Primary Aldosteronism, Seizures, and Neurologic Abnormalities:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CACNA1D NM_001128840.3(CACNA1D):c.2250C>G (p.Ile750Met) SNV Pathogenic 66073 rs41276445 GRCh37: 3:53764497-53764497
GRCh38: 3:53730470-53730470
2 CACNA1D NM_001128840.3(CACNA1D):c.1220+678G>A SNV Pathogenic/Likely pathogenic 66072 rs386834264 GRCh37: 3:53707831-53707831
GRCh38: 3:53673804-53673804
3 CACNA1D NM_001128840.3(CACNA1D):c.5906C>A (p.Ala1969Asp) SNV Uncertain significance 931864 GRCh37: 3:53844039-53844039
GRCh38: 3:53810012-53810012
4 CACNA1D NM_001128840.3(CACNA1D):c.5498A>G (p.Tyr1833Cys) SNV Uncertain significance 634553 rs1559716901 GRCh37: 3:53837512-53837512
GRCh38: 3:53803485-53803485
5 CACNA1D NM_001128840.3(CACNA1D):c.5837G>A (p.Arg1946His) SNV Uncertain significance 634554 rs150366975 GRCh37: 3:53842763-53842763
GRCh38: 3:53808736-53808736
6 CACNA1D NM_001128840.3(CACNA1D):c.5492A>G (p.His1831Arg) SNV Uncertain significance 1030884 GRCh37: 3:53837506-53837506
GRCh38: 3:53803479-53803479
7 CACNA1D NM_001128840.3(CACNA1D):c.4924-6A>G SNV Uncertain significance 1032455 GRCh37: 3:53834270-53834270
GRCh38: 3:53800243-53800243
8 CACNA1D NM_001128840.3(CACNA1D):c.658G>C (p.Glu220Gln) SNV Uncertain significance 1032456 GRCh37: 3:53694194-53694194
GRCh38: 3:53660167-53660167

UniProtKB/Swiss-Prot genetic disease variations for Primary Aldosteronism, Seizures, and Neurologic Abnormalities:

72
# Symbol AA change Variation ID SNP ID
1 CACNA1D p.Gly403Asp VAR_070868
2 CACNA1D p.Ile750Met VAR_070869 rs41276445

Expression for Primary Aldosteronism, Seizures, and Neurologic Abnormalities

Search GEO for disease gene expression data for Primary Aldosteronism, Seizures, and Neurologic Abnormalities.

Pathways for Primary Aldosteronism, Seizures, and Neurologic Abnormalities

GO Terms for Primary Aldosteronism, Seizures, and Neurologic Abnormalities

Sources for Primary Aldosteronism, Seizures, and Neurologic Abnormalities

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....