Aldosterone-producing adenoma with seizures and neurological abnormalities

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.

Also known as: APA with seizures and neurological abnormalities, Conn adenoma with seizures and neurological abnormalities, aldosterone-secreting adenoma with seizures and neurological abnormalities, complex neurodevelopmental disorder with or without aldosteronism, primary aldosteronism, seizures, and neurologic abnormalities, Conn adenoma, PASNA, aldosterone-secreting adenoma

3 clinical trials for this condition and its sub-types.