aldosterone-producing adenoma with seizures and neurological abnormalities
Findings
No curated finding names aldosterone-producing adenoma with seizures and neurological abnormalities yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0014200), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
38 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal circulating renin concentrationHPOHP:0040084
- Obligate (100% of cases)
- Cerebral palsyHPOHP:0100021
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- Decreased circulating renin concentrationHPOHP:0003351
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- HypertensionHPOHP:0000822
- 2 of 2 reported patients · Neonatal onset
- Obligate (100% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CACNA1DHGNC:1391
- Definitive · Illumina · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · G2P · Autosomal dominant · 2015
- Moderate · Ambry Genetics · Autosomal dominant · 2018
Where it sits
- A kind of
Other names
5 names
Resolves to: aldosterone-producing adenoma with seizures and neurological abnormalities
- Also called
- aldosterone-secreting adenoma with seizures and neurological abnormalitiesAPA with seizures and neurological abnormalitiescomplex neurodevelopmental disorder with or without aldosteronismConn adenoma with seizures and neurological abnormalitiesprimary aldosteronism, seizures, and neurologic abnormalities