Aldosterone-producing adenoma with seizures and neurological abnormalities

General Information (adopted from Orphanet):

Synonyms, Signs: PASNA
Aldosterone-secreting adenoma with seizures and neurological abnormalities
Conn adenoma with seizures and neurological abnormalities
APA with seizures and neurological abnormalities
Number of Symptoms 27
OrphanetNr: 369929
OMIM Id: 615474
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Not applicable
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic hyperaldosteronism
 -Rare genetic disease
Rare surgically correctable form of primary aldosteronism
 -Rare endocrine disease

Symptom Information: Sort by abundance 

1
 (HPO:0000787) Nephrolithiasis rare [HPO:skoehler] 78 / 7739
2
 (HPO:0100704) Cortical visual impairment rare [HPO:skoehler] 28 / 7739
3
 (HPO:0100021) Cerebral palsy 36 / 7739
4
 (HPO:0100022) Abnormality of movement 129 / 7739
5
 (HPO:0002069) Generalized tonic-clonic seizures 96 / 7739
6
 (HPO:0002510) Spastic tetraplegia rare [HPO:skoehler] 54 / 7739
7
 (HPO:0002384) Focal seizures with impairment of consciousness or awareness 17 / 7739
8
 (HPO:0002123) Generalized myoclonic seizures 62 / 7739
9
 (HPO:0001263) Global developmental delay 853 / 7739
10
 (HPO:0003351) Decreased circulating renin level 8 / 7739
11
 (HPO:0001631) Atria septal defect 274 / 7739
12
 (HPO:0001629) Ventricular septal defect rare [HPO:skoehler] 316 / 7739
13
 (HPO:0200128) Biventricular hypertrophy rare [HPO:skoehler] 11 / 7739
14
 (HPO:0000822) Hypertension 224 / 7739
15
 (HPO:0001712) Left ventricular hypertrophy 76 / 7739
16
 (HPO:0001671) Abnormality of the cardiac septa 55 / 7739
17
 (HPO:0002092) Pulmonary hypertension rare [HPO:skoehler] 109 / 7739
18
 (HPO:0001655) Patent foramen ovale rare [HPO:skoehler] 31 / 7739
19
 (HPO:0002900) Hypokalemia 45 / 7739
20
 (HPO:0200114) Metabolic alkalosis 6 / 7739
21
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
22
 (OMIM) High aldosterone/renin ratio 1 / 7739
23
 (OMIM) Second-degree heart block (in one patient) 1 / 7739
24
 (MedDRA:10049781) Hypertension neonatal 1 / 7739
25
 (OMIM) Elevated aldosterone 1 / 7739
26
 (OMIM) Athetosis, mild (in one patient) 1 / 7739
27
 (OMIM) Verbal outbursts (in one patient) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Scholl et al. (2013) studied 2 patients with primary aldosteronism and neurologic abnormalities. The first patient was a 3-year-old girl of European ancestry who was diagnosed at birth with hypertension as well as biventricular hypertrophy, ventricular septal defect, ...
Molecular genetics OMIM Scholl et al. (2013) sequenced the candidate gene CACNA1D in 100 unrelated individuals with unexplained early-onset primary aldosteronism and identified 2 girls with de novo heterozygous gain-of-function missense mutations, G403D (114206.0002) and I770M (114206.0003). In addition to hypertension, ...