Details of Disease

General Information of Disease (ID: DISY3OU9)

Disease Name Pseudohypoaldosteronism type 2E
Synonyms
pseudohypoaldosteronism, type IIE; pseudohypoaldosteronism, type 2E; PHA2E; pseudohypoaldosteronism type 2 caused by mutation in CUL3; pseudohypoaldosteronism type 2 caused by mutation in Cul3; Cul3 pseudohypoaldosteronism type 2; CUL3 pseudohypoaldosteronism type 2
Definition Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the CUL3 gene.
Disease Hierarchy
DISFTCHO: Pseudohypoaldosteronism type 2
DISY3OU9: Pseudohypoaldosteronism type 2E
Disease Identifiers
MONDO ID
MONDO_0013782
UMLS CUI
C3469606
OMIM ID
614496
MedGen ID
483336
Orphanet ID
300530

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
CUL3 TTPCU0Q Strong Biomarker [1]
CUL3 TTPCU0Q 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
CUL3 OTDNOAPM Definitive Autosomal dominant [2]
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References

1 Characterisation of the Cullin-3 mutation that causes a severe form of familial hypertension and hyperkalaemia.EMBO Mol Med. 2015 Oct;7(10):1285-306. doi: 10.15252/emmm.201505444.
2 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.