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Aldosterone-producing adenoma with seizures and neurological abnormalities

MONDO:0014200

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

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

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Broader categories

Disease (618) Hereditary disease (172) Endocrine system disorder (61) Hyperaldosteronism (44) Primary aldosteronism (39) Human disease (14) Adrenal gland disorder (8) Disease of genetic or genomic mechanism (2) Adrenal gland hyperfunction (1) Adrenal cortex disorder (0)
Trials to join now! 6 Not yet recruiting 1 Not yet finished but already full! 1 Completed 1
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