aldosterone-producing adenoma with seizures and neurological abnormalities

Disease Overview

An autosomal dominant neurodevelopmental condition related to variants in CACNA1D. Most reported variants are de novo and functional studies have indicated a gain-of-function disease mechanism. This condition is characterized by developmental delay/intellectual disability, autism spectrum disorder, hypotonia and seizures. Other reported features include endocrine abnormalities such as primary aldosteronism and congenital hyperinsulinemic hypoglycemia, self-injurious behavior, facial dysmorphisms, and heart defects.

Synonyms

• APA with seizures and neurological abnormalities
• Conn adenoma
• Conn adenoma with seizures and neurological abnormalities
• PASNA
• aldosterone-secreting adenoma
• aldosterone-secreting adenoma with seizures and neurological abnormalities
• aldosteronoma
• complex neurodevelopmental disorder with or without aldosteronism
• primary aldosteronism due to Conn adenoma
• primary aldosteronism, seizures, and neurologic abnormalities