Primary aldosteronism, seizures, and neurologic abnormalities

Preferred Label : Primary aldosteronism, seizures, and neurologic abnormalities;

Symbol : PASNA;

CISMeF acronym : PASNA;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the calcium channel, voltage-dependent, L type, alpha 1D subunit gene (CACNA1D, 114206.0002);

Laboratory abnormalities : Hypokalemia;

Prefixed ID : #615474;

Details

Origin ID

615474;

UMLS CUI

C3809609;

Automatic exact mappings (from CISMeF team)
- CACNA1D wt Allele [NCIt concept]
- Primary hyperaldosteronism-seizures-neurological abnormalities syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Primary Aldosteronism, Seizures, and Neurologic Abnormalities [NCIt concept]
Genes related to phenotype
- Calcium channel, voltage-dependent, L type, alpha-1d subunit [OMIM gene]
HPO term(s)
- Abnormality of movement [HPO term]
- Athetosis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Biventricular hypertrophy [HPO term]
- Cerebral palsy [HPO term]
- Cerebral visual impairment [HPO term]
- Decreased circulating renin level [HPO term]
- Global developmental delay [HPO term]
- Hypertension [HPO term]
- Hypokalemia [HPO term]
- Left ventricular hypertrophy [HPO term]
- Metabolic alkalosis [HPO term]
- Nephrolithiasis [HPO term]
- Patent foramen ovale [HPO term]
- Pulmonary arterial hypertension [HPO term]
- Spastic tetraplegia [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- Primary hyperaldosteronism-seizures-neurological abnormalities syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Primary Aldosteronism, Seizures, and Neurologic Abnormalities [NCIt concept]

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