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GTR Home > Conditions/Phenotypes > Aldosterone-producing adenoma with seizures and neurological abnormalities

Aldosterone-producing adenoma with seizures and neurological abnormalities

Synonyms
Primary aldosteronism, seizures, and neurologic abnormalities
Modes of inheritance
Not genetically inherited (Orphanet)

Summary

A rare, genetic, neurologic disease characterized by primary hyperaldosteronism presenting with early-onset, severe hypertension, hypokalemia and neurological manifestations (including seizures, severe hypotonia, spasticity, cerebral palsy and profound developmental delay/intellectual disability). [from ORDO]

Available tests

22 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (22 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CACH3, CACN4, CACNL1A2, CCHL1A2, Cav1.3, PASNA, SANDD, CACNA1D
    Summary: calcium voltage-gated channel subunit alpha1 D

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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