Disease #03960 (PASNA (aldosteronism, primary, seizures, and neurologic abnormalities (PASNA)), OMIM:615474)

Official abbreviation PASNA
Name aldosteronism, primary, seizures, and neurologic abnormalities (PASNA)
OMIM ID 615474
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 4
Phenotype entries for this disease 4
Associated with 1 gene CACNA1D
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

4 entries on 1 page. Showing entries 1 - 4.
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00100610 23913001-FamK1444Pat1 PubMed: Scholl 2013, Journal: Scholl 2013 2-generation family, 1 affected, unaffected non-carrier parents F no United States European - - - - PASNA 0d-hypertension, biventricular hypertrophy, ventricular septal defect, pulmonary hypertension, second-degree heart block; elevated aldosterone levels, high aldosterone/renin ratio; uncontrolled hypertension, hypokalemia; treatment with calcium channel blocker, amlodipine, normalized blood pressure, and biventricular hypertrophy resolved; seizure disorder, apparent cerebral palsy, cortical blindness, complex neuromuscular abnormalities CACNA1D CACNA1D 1 1 Johan den Dunnen
00100611 23913001-FamK1555Pat1 PubMed: Scholl 2013, Journal: Scholl 2013 2-generation family, 1 affected, unaffected non-carrier parents/sibs F - United States African American - - - - PASNA 0d-cerebral palsy, spastic quadriplegia, mild athetosis, severe generalized intellectual disability, complex partial and generalized seizures; 5y-markedly hypertensive, persistently elevated blood pressure, polydipsia, hypokalemia, metabolic alkalosis, high serum aldosterone; CT-scan no adrenal abnormality; ECG mild left ventricular hypertrophy CACNA1D CACNA1D 1 1 Johan den Dunnen
00412172 patient Török et al., 2022, submitted - - - United States - - - - - PASNA 4 week old male infant: no seizures, but severe jittering at birth, episodes of hypoglycemia, pulmonary hypertension and arterial hypertension, elevated plasma aldosterone CACNA1B CACNA1D 1 1 Joerg Striessnig
00431535 251533 - - F no Germany - - - - - PASNA Hyperkalemia, Pseudohypoaldosteronism, Hypertension CACNA1D CACNA1D 1 1 Andreas Laner
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