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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:pseudohypoaldosteronism
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Accession:DOID:4479 term browser browse the term
Definition:A heterogeneous group of disorders characterized by renal electrolyte transport dysfunctions. Congenital forms are rare autosomal disorders characterized by neonatal hypertension, HYPERKALEMIA, increased RENIN activity and ALDOSTERONE concentration. The Type I features HYPERKALEMIA with sodium wasting; Type II, HYPERKALEMIA without sodium wasting. Pseudohypoaldosteronism can be the result of a defective renal electrolyte transport protein or acquired after KIDNEY TRANSPLANTATION.
Synonyms:exact_synonym: Familial Hypertensive Hyperkalemia;   Familial Hypertensive Hyperkalemias;   Pseudohypoaldosteronism Type 1;   Pseudohypoaldosteronism Type 2;   Pseudohypoaldosteronism Type I;   Pseudohypoaldosteronism Type Ii;   Pseudohypoaldosteronisms;   Pseudohypoaldosteronisms, Type I;   familial hyperpotassemia and hypertension;   type II pseudohypoaldosteronisms
 primary_id: MESH:D011546
 alt_id: RDO:0002655
 xref: NCI:C85034;   OMIM:PS145260
For additional species annotation, visit the Alliance of Genome Resources.



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pseudohypoaldosteronism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cul3 cullin 3 ISO ClinVar Annotator: match by term: HYPERTENSIVE HYPERKALEMIA, FAMILIAL, UMLS MESH term: Familial Hypertensive Hyperkalemia ClinVar PMID:22266938 NCBI chr 9:81,592,641...81,670,428
Ensembl chr 9:81,592,641...81,670,462
JBrowse link
G Gnas GNAS complex locus ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,136,350
Ensembl chr 3:163,071,417...163,136,350
JBrowse link
G Klhl3 kelch-like family member 3 ISO ClinVar Annotator: match by term: HYPERTENSIVE HYPERKALEMIA, FAMILIAL, UMLS MESH term: Familial Hypertensive Hyperkalemia
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pseudohypoaldosteronism, type 2
ClinVar
CTD
PMID:22266938 PMID:22406640 PMID:24821705 NCBI chr17:6,523,089...6,645,971
Ensembl chr17:6,521,912...6,642,154
JBrowse link
G Nr3c2 nuclear receptor subfamily 3, group C, member 2 ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:16972228 RGD:1600927 NCBI chr19:30,715,648...31,059,885
Ensembl chr19:30,715,648...31,059,885
JBrowse link
G Rad52 RAD52 homolog, DNA repair protein ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism, type 2 ClinVar NCBI chr 4:153,106,062...153,128,598
Ensembl chr 4:153,106,062...153,128,207
JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO PHA type I,OMIM:264350;DNA:frameshift, DNA:point mutation:exon:R508X
ClinVar Annotator: match by term: Pseudohypoaldosteronism
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:11752024 PMID:8589714 RGD:1624117 NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181
JBrowse link
G Scnn1b sodium channel epithelial 1 subunit beta ISO PHA type I,OMIM:264350;DNA:point mutation:exon:G37S
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:8589714 RGD:1624117 NCBI chr 1:176,430,063...176,484,451
Ensembl chr 1:176,430,103...176,484,451
JBrowse link
G Scnn1g sodium channel epithelial 1 subunit gamma ISO PHA type I,OMIM:264350;DNA:splice-site mutation:318-1G>A
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:8640238 PMID:8640238 RGD:1624147 NCBI chr 1:176,304,942...176,338,816
Ensembl chr 1:176,304,942...176,338,816
JBrowse link
G Stk39 serine threonine kinase 39 ISS MouseDO NCBI chr 3:52,913,583...53,179,060
Ensembl chr 3:52,913,585...53,179,060
JBrowse link
G Stx16 syntaxin 16 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:162,853,764...162,882,489
Ensembl chr 3:162,853,782...162,882,489
JBrowse link
G Wnk1 WNK lysine deficient protein kinase 1 ISO ClinVar Annotator: match by term: Hyperpotassemia and hypertension familial
ClinVar Annotator: match by term: Pseudohypoaldosteronism, type 2
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:22949526 PMID:26467025 PMID:28492532 PMID:11498583 PMID:18547946 RGD:1580828, RGD:2298790 NCBI chr 4:153,128,334...153,253,905
Ensembl chr 4:153,128,334...153,253,905
JBrowse link
G Wnk4 WNK lysine deficient protein kinase 4 ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism, type 2
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:22949526 PMID:18547946 PMID:11498583 RGD:2298790, RGD:1580828 NCBI chr10:86,202,552...86,219,655
Ensembl chr10:86,188,812...86,231,829
JBrowse link
autosomal dominant pseudohypoaldosteronism type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cul3 cullin 3 ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant ClinVar PMID:25741868 PMID:28492532 PMID:30311385 NCBI chr 9:81,592,641...81,670,428
Ensembl chr 9:81,592,641...81,670,462
JBrowse link
G Klhl3 kelch-like family member 3 ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr17:6,523,089...6,645,971
Ensembl chr17:6,521,912...6,642,154
JBrowse link
G Nr3c2 nuclear receptor subfamily 3, group C, member 2 ISO ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1
ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant
ClinVar Annotator: match by term: Pseudohypoaldosteronism type 1 autosomal dominant
ClinVar
OMIM
RGD
PMID:9662404 PMID:11134129 PMID:11344206 PMID:12483305 PMID:12679457 More... RGD:1600930 NCBI chr19:30,715,648...31,059,885
Ensembl chr19:30,715,648...31,059,885
JBrowse link
G Stx16 syntaxin 16 ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant ClinVar NCBI chr 3:162,853,764...162,882,489
Ensembl chr 3:162,853,782...162,882,489
JBrowse link
autosomal recessive pseudohypoaldosteronism type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ltbr lymphotoxin beta receptor ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Recessive
ClinVar Annotator: match by term: Pseudohypoaldosteronism type 1 autosomal recessive
ClinVar PMID:25741868 NCBI chr 4:158,108,884...158,115,339
Ensembl chr 4:158,108,886...158,121,539
JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism type 1 autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive pseudohypoaldosteronism type 1
ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Recessive
ClinVar
OMIM
PMID:1506904 PMID:8589714 PMID:10510337 PMID:10523338 PMID:10586178 More... NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181
JBrowse link
G Scnn1b sodium channel epithelial 1 subunit beta ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism type 1 autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive pseudohypoaldosteronism type 1
ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Recessive
ClinVar
OMIM
PMID:8589714 PMID:9118951 PMID:9576123 PMID:9674649 PMID:10523338 More... NCBI chr 1:176,430,063...176,484,451
Ensembl chr 1:176,430,103...176,484,451
JBrowse link
G Scnn1g sodium channel epithelial 1 subunit gamma ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism type 1 autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive pseudohypoaldosteronism type 1
ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Recessive
ClinVar
OMIM
PMID:8640238 PMID:10391210 PMID:11231969 PMID:12473862 PMID:15198480 More... NCBI chr 1:176,304,942...176,338,816
Ensembl chr 1:176,304,942...176,338,816
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Recessive ClinVar NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
JBrowse link
Pseudohypoaldosteronism, Type IIA term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cul3 cullin 3 ISO ClinVar Annotator: match by term: Gordon hyperkalemia-hypertension syndrome ClinVar PMID:22266938 NCBI chr 9:81,592,641...81,670,428
Ensembl chr 9:81,592,641...81,670,462
JBrowse link
G Klhl3 kelch-like family member 3 ISO ClinVar Annotator: match by term: Gordon hyperkalemia-hypertension syndrome ClinVar PMID:22266938 PMID:22406640 PMID:24821705 NCBI chr17:6,523,089...6,645,971
Ensembl chr17:6,521,912...6,642,154
JBrowse link
G Rad52 RAD52 homolog, DNA repair protein ISO ClinVar Annotator: match by term: Gordon hyperkalemia-hypertension syndrome ClinVar NCBI chr 4:153,106,062...153,128,598
Ensembl chr 4:153,106,062...153,128,207
JBrowse link
G Wnk1 WNK lysine deficient protein kinase 1 ISO ClinVar Annotator: match by term: Gordon hyperkalemia-hypertension syndrome ClinVar PMID:26467025 PMID:28492532 NCBI chr 4:153,128,334...153,253,905
Ensembl chr 4:153,128,334...153,253,905
JBrowse link
G Wnk4 WNK lysine deficient protein kinase 4 ISO ClinVar Annotator: match by term: Gordon hyperkalemia-hypertension syndrome ClinVar NCBI chr10:86,202,552...86,219,655
Ensembl chr10:86,188,812...86,231,829
JBrowse link
Pseudohypoaldosteronism, Type IIB term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnk4 WNK lysine deficient protein kinase 4 ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism type 2B OMIM
ClinVar
PMID:718348 PMID:9171836 PMID:11498583 PMID:12107233 PMID:15110905 More... NCBI chr10:86,202,552...86,219,655
Ensembl chr10:86,188,812...86,231,829
JBrowse link
Pseudohypoaldosteronism, Type IIC term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rad52 RAD52 homolog, DNA repair protein ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism type 2C ClinVar NCBI chr 4:153,106,062...153,128,598
Ensembl chr 4:153,106,062...153,128,207
JBrowse link
G Wnk1 WNK lysine deficient protein kinase 1 ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism type 2C
ClinVar Annotator: match by OMIM:614492
OMIM
ClinVar
PMID:10869238 PMID:11498583 PMID:16199547 PMID:17344846 PMID:18580052 More... NCBI chr 4:153,128,334...153,253,905
Ensembl chr 4:153,128,334...153,253,905
JBrowse link
Pseudohypoaldosteronism, Type IID term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klhl3 kelch-like family member 3 ISO ClinVar Annotator: match by term: FAMILIAL HYPERKALEMIC HYPERTENSION
ClinVar Annotator: match by OMIM:614495
OMIM
ClinVar
PMID:22266938 PMID:22406640 PMID:24033266 PMID:24821705 PMID:25741868 More... NCBI chr17:6,523,089...6,645,971
Ensembl chr17:6,521,912...6,642,154
JBrowse link
Pseudohypoaldosteronism, Type IIE term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cul3 cullin 3 ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism type 2E OMIM
ClinVar
PMID:22266938 PMID:25741868 PMID:28492532 PMID:32860008 NCBI chr 9:81,592,641...81,670,428
Ensembl chr 9:81,592,641...81,670,462
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17445
    Nutritional and Metabolic Diseases 5595
      disease of metabolism 5595
        inherited metabolic disorder 2663
          renal tubular transport disease 94
            pseudohypoaldosteronism 14
              Pseudohypoaldosteronism, Type IIA 5
              Pseudohypoaldosteronism, Type IIB 1
              Pseudohypoaldosteronism, Type IIC 2
              Pseudohypoaldosteronism, Type IID 1
              Pseudohypoaldosteronism, Type IIE 1
              Tunglang Savage Bellman Syndrome 0
              autosomal dominant pseudohypoaldosteronism type 1 4
              autosomal recessive pseudohypoaldosteronism type 1 5
Path 2
Term Annotations click to browse term
  disease 17445
    disease of anatomical entity 16777
      Urogenital Diseases 4422
        urinary system disease 2169
          kidney disease 1951
            renal tubular transport disease 94
              pseudohypoaldosteronism 14
                Pseudohypoaldosteronism, Type IIA 5
                Pseudohypoaldosteronism, Type IIB 1
                Pseudohypoaldosteronism, Type IIC 2
                Pseudohypoaldosteronism, Type IID 1
                Pseudohypoaldosteronism, Type IIE 1
                Tunglang Savage Bellman Syndrome 0
                autosomal dominant pseudohypoaldosteronism type 1 4
                autosomal recessive pseudohypoaldosteronism type 1 5
paths to the root