/aldosterone-producing adenoma with seizures and neurological abnormalities

aldosterone-producing adenoma with seizures and neurological abnormalities

Rare Disease

MONDO:0014200

Also Known As

APA with seizures and neurological abnormalitiesConn adenoma with seizures and neurological abnormalitiesaldosterone-secreting adenoma with seizures and neurological abnormalitiescomplex neurodevelopmental disorder with or without aldosteronismprimary aldosteronism, seizures, and neurologic abnormalitiesConn adenomaPASNAaldosterone-secreting adenomaaldosteronomaprimary aldosteronism due to Conn adenoma

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.