autosomal dominant pseudohypoaldosteronism type 1

Summary
Synonym
  • PHA1A
  • autosomal dominant PHA 1
Definition
A pseudohypoaldosteronism characterized by Salt wasting resulting from renal unresponsiveness to mineralocorticoids that has_material_basis_in heterozygous mutation in the NR3C2 gene on chromosome 4q31.
Super Class
autosomal dominant disease pseudohypoaldosteronism
External Links
Disease Ontology
DOID:0060855
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
4360 MRC1 mannose receptor C-type 1
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P22897 Macrophage mannose receptor 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024