Details of Disease

General Information of Disease (ID: DISWCGYX)

Disease Name Aldosterone-producing adenoma with seizures and neurological abnormalities
Synonyms
primary aldosteronism due to Conn adenoma; aldosteronoma; aldosterone-secreting adenoma; Conn adenoma; PASNA; primary aldosteronism, seizures, and neurologic abnormalities; aldosterone-secreting adenoma with seizures and neurological abnormalities; APA with seizures and neurological abnormalities; Conn adenoma with seizures and neurological abnormalities
Disease Hierarchy
DIS9R9LI: Familial hyperaldosteronism
DISWCGYX: Aldosterone-producing adenoma with seizures and neurological abnormalities
Disease Identifiers
MONDO ID
MONDO_0014200
UMLS CUI
C3809609
OMIM ID
615474
MedGen ID
815939
Orphanet ID
369929

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CACNA1D TT7RGTM Limited Biomarker [1]
CACNA1D TT7RGTM Definitive Autosomal dominant [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CACNA1D OTQFH2ZD Definitive Autosomal dominant [2]
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References

1 Role of a conserved glutamine in the function of voltage-gated Ca(2+) channels revealed by a mutation in human CACNA1D.J Biol Chem. 2018 Sep 14;293(37):14444-14454. doi: 10.1074/jbc.RA118.003681. Epub 2018 Jul 27.
2 Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism. Nat Genet. 2013 Sep;45(9):1050-4. doi: 10.1038/ng.2695. Epub 2013 Aug 4.