PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES (PASNA)

Question 1

What is  PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES (PASNA)?

Accepted Answer

rare

autosomal dominant

mutation in the CACNA1D gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Aldosteron-produzierendes Adenom mit komplexer neuromuskulärer Störung

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 615474

Question 4

Which enzymes are involved?

Accepted Answer

Voltage-dependent L-type calcium channel subunit alpha-1D

Disease	PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES (PASNA)
Synonym	APA WITH SEIZURES AND NEUROLOGICAL ABNORMALITIES
OMIM	615474 OMIM = Online Mendelian Inheritance of Men
Orphanet	369929
Protein (UniProt)	Voltage-dependent L-type calcium channel subunit alpha-1D
Gene locus	3p21.1
ICD	E26.0
Summary	rare autosomal dominant mutation in the CACNA1D gene
Laboratory findings	Aldosterone inc (plasma) Aldosterone/renin ratio inc (serum) Renin activity (PRA) or renin normal/dec (urine)
Symptoms	abnormal movement athetosis behavior, abnormal or bizarre, confusion blindness, visual loss, visual impairment developmental delay heart involvement hyperaldosteronism hypertension hypokalemia metabolic alkalosis onset, infancy onset, neonatal pulmonary hypertension seizures spastic diplegia/quadriplegia/tetraplegia urolithiasis, nephrolithiasis, kidney stones ventricular septal defect