MCID: PRM183
MIFTS: 23

Primary Aldosteronism, Seizures, and Neurologic Abnormalities

Categories: Genetic diseases, Endocrine diseases, Rare diseases, Neuronal 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 75 29 6 73
Pasna 57 75
Aldosterone-Producing Adenoma with Seizures and Neurological Abnormalities 59
Aldosterone-Secreting Adenoma with Seizures and Neurological Abnormalities 59
Aldosteronism, Primary, Seizures, and Neurologic Abnormalities 40
Conn Adenoma with Seizures and Neurological Abnormalities 59
Apa with Seizures and Neurological Abnormalities 59

Characteristics:

Orphanet epidemiological data:

59
aldosterone-producing adenoma with seizures and neurological abnormalities
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
primary aldosteronism, seizures, and neurologic abnormalities:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare endocrine diseases


Summaries for Primary Aldosteronism, Seizures, and Neurologic Abnormalities

UniProtKB/Swiss-Prot : 75 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, is also known as pasna, 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 global developmental delay

Description from OMIM: 615474

Related Diseases for Primary Aldosteronism, Seizures, and Neurologic Abnormalities

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

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 59 32 obligate (100%) Obligate (100%) HP:0000822
2 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
3 polydipsia 59 32 frequent (33%) Frequent (79-30%) HP:0001959
4 hypokalemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002900
5 intellectual disability, severe 59 32 frequent (33%) Frequent (79-30%) HP:0010864
6 pulmonary arterial hypertension 59 32 occasional (7.5%) Frequent (79-30%) HP:0002092
7 generalized tonic-clonic seizures 59 32 frequent (33%) Frequent (79-30%) HP:0002069
8 ventricular septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001629
9 nephrolithiasis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000787
10 hyperaldosteronism 59 32 obligate (100%) Obligate (100%) HP:0000859
11 epistaxis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000421
12 intracranial hemorrhage 59 32 occasional (7.5%) Occasional (29-5%) HP:0002170
13 cerebral palsy 59 32 hallmark (90%) Very frequent (99-80%) HP:0100021
14 headache 59 32 occasional (7.5%) Occasional (29-5%) HP:0002315
15 tinnitus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000360
16 spastic paraplegia 59 32 frequent (33%) Frequent (79-30%) HP:0001258
17 focal seizures with impairment of consciousness or awareness 59 32 frequent (33%) Frequent (79-30%) HP:0002384
18 athetosis 59 32 occasional (7.5%) Frequent (79-30%) HP:0002305
19 adrenal hyperplasia 59 32 very rare (1%) Very rare (<4-1%) HP:0008221
20 abnormal circulating renin 59 32 obligate (100%) Obligate (100%) HP:0040084
21 nausea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002018
22 caesarian section 59 32 frequent (33%) Frequent (79-30%) HP:0011410
23 cortical visual impairment 59 32 occasional (7.5%) Frequent (79-30%) HP:0100704
24 metabolic alkalosis 59 32 frequent (33%) Frequent (79-30%) HP:0200114
25 ventricular hypertrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001714
26 focal myoclonic seizures 59 32 frequent (33%) Frequent (79-30%) HP:0011166
27 second degree atrioventricular block 59 32 frequent (33%) Frequent (79-30%) HP:0011706
28 seizures 59 Very frequent (99-80%)
29 spastic tetraplegia 32 occasional (7.5%) HP:0002510
30 left ventricular hypertrophy 32 HP:0001712
31 dexamethasone-suppresible primary hyperaldosteronism 59 Excluded (0%)
32 patent foramen ovale 32 occasional (7.5%) HP:0001655
33 decreased circulating renin level 32 HP:0003351
34 emg: impaired neuromuscular transmission 59 Frequent (79-30%)
35 biventricular hypertrophy 32 occasional (7.5%) HP:0200128
36 emg 32 frequent (33%) HP:0100285

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:

41
Heart

Publications for Primary Aldosteronism, Seizures, and Neurologic Abnormalities

Variations for Primary Aldosteronism, Seizures, and Neurologic Abnormalities

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

75
# Symbol AA change Variation ID SNP ID
1 CACNA1D p.Gly403Asp VAR_070868
2 CACNA1D p.Ile750Met VAR_070869 rs41276445

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CACNA1D NM_000720.3(CACNA1D): c.1208G> A (p.Gly403Asp) single nucleotide variant Pathogenic/Likely pathogenic rs386834264 GRCh37 Chromosome 3, 53707831: 53707831
2 CACNA1D NM_000720.3(CACNA1D): c.1208G> A (p.Gly403Asp) single nucleotide variant Pathogenic/Likely pathogenic rs386834264 GRCh38 Chromosome 3, 53673804: 53673804
3 CACNA1D NM_001128840.2(CACNA1D): c.2250C> G (p.Ile750Met) single nucleotide variant Pathogenic/Likely pathogenic rs41276445 GRCh37 Chromosome 3, 53764497: 53764497
4 CACNA1D NM_001128840.2(CACNA1D): c.2250C> G (p.Ile750Met) single nucleotide variant Pathogenic/Likely pathogenic rs41276445 GRCh38 Chromosome 3, 53730470: 53730470

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

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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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73 UMLS
74 UMLS via Orphanet
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