Aldosterone-producing adenoma with seizures and neurological abnormalities
Aldosterone-producing adenoma with seizures and neurological abnormalities
Definition
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 aldosterone-secreting adenoma with seizures and neurological abnormalities, APA with seizures and neurological abnormalities, complex neurodevelopmental disorder with or without aldosteronism, Conn adenoma with seizures and neurological abnormalities, primary aldosteronism, seizures, and neurologic abnormalities — per MONDO