Details of Disease

General Information of Disease (ID: DIS4FXQ4)

Disease Name Autosomal dominant pseudohypoaldosteronism type 1
Synonyms
pseudohypoaldosteronism type 1, dominant; pseudohypoaldosteronism type 1 autosomal dominant; pseudohypoaldosteronism, type I, autosomal dominant; renal pseudohypoaldosteronism type 1; renal PHA1; PHA I, autosomal dominant; autosomal dominant PHA 1; PHA1A; autosomal dominant pseudohypoaldosteronism type 1; pseudohypoaldosteronism type i, autosomal dominant
Definition Renal pseudohypoaldosteronism type 1 (renal PHA1) is a mild form of primary mineralocorticoid resistance restricted to the kidney.
Disease Hierarchy
DIS90D1E: Pseudohypoaldosteronism type 1
DIS4FXQ4: Autosomal dominant pseudohypoaldosteronism type 1
Disease Identifiers
MONDO ID
MONDO_0008329
MESH ID
D011546
UMLS CUI
C1449842
OMIM ID
177735
MedGen ID
260623
Orphanet ID
171871

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
NR3C2 TT26PHO Strong Genetic Variation [1]
WNK1 TTJ9UMX Strong Biomarker [2]
NR3C2 TT9P1CK Definitive Autosomal dominant [3]
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This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
KLHL3 OTEJ6850 Strong Biomarker [4]
SCNN1A OTE2KVZV Strong Biomarker [5]
SCNN1G OTSJYQVQ Strong Biomarker [6]
NR3C2 OT0F2V2Z Definitive Autosomal dominant [3]
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References

1 Pseudohypoaldosteronism type 1 due to a novel mutation in the mineralocorticoid receptor gene.Horm Res Paediatr. 2010;73(6):482-6. doi: 10.1159/000281290. Epub 2010 Apr 24.
2 Phosphatidylinositol 3-kinase/Akt signaling pathway activates the WNK-OSR1/SPAK-NCC phosphorylation cascade in hyperinsulinemic db/db mice.Hypertension. 2012 Oct;60(4):981-90. doi: 10.1161/HYPERTENSIONAHA.112.201509. Epub 2012 Sep 4.
3 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.
4 KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron.Nat Genet. 2012 Mar 11;44(4):456-60, S1-3. doi: 10.1038/ng.2218.
5 Association of a sodium channel alpha subunit promoter variant with blood pressure.J Am Soc Nephrol. 2002 Jan;13(1):80-85. doi: 10.1681/ASN.V13180.
6 A novel splice-site mutation in the gamma subunit of the epithelial sodium channel gene in three pseudohypoaldosteronism type 1 families.Nat Genet. 1996 Jun;13(2):248-50. doi: 10.1038/ng0696-248.