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pseudohypoaldosteronism - Ontology Report - Rat Genome Database

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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;   Pseudohypoaldosteronisms;   familial hyperpotassemia and hypertension
 narrow_synonym: pseudohypoaldosteronism type 1;   pseudohypoaldosteronism type 2;   pseudohypoaldosteronism type I;   pseudohypoaldosteronism type II
 primary_id: MESH:D011546
 xref: MIM:PS145260;   MIM:PS177735;   NCI:C85034
For additional species annotation, visit the Alliance of Genome Resources.

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show annotations for term's descendants           Sort by:
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: Hyperpotassemia and hypertension familial 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...163,127,262
Ensembl chr 3:163,071,417...163,127,262 		JBrowse link
G Klhl3 kelch-like family member 3 ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hyperpotassemia and hypertension familial		 CTD
ClinVar
MouseDO		 PMID:22266938 PMID:22406640 PMID:23387299 PMID:23665031 PMID:24821705 More... 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pseudohypoaldosteronism		 CTD
ClinVar
RGD		 PMID:16972228 RGD:1600927 NCBI chr19:47,619,853...47,964,089
Ensembl chr19:30,715,648...31,059,885 		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:25741868 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 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
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:22949526 PMID:25741868 PMID:26467025 PMID:28492532 PMID:11498583 More... 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
ISS		 ClinVar Annotator: match by term: Hyperpotassemia and hypertension familial
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
RGD		 PMID:22949526 PMID:25741868 PMID:28492532 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: Autosomal dominant pseudohypoaldosteronism type 1 | ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:81,592,641...81,670,428
Ensembl chr 9:81,592,641...81,670,462 		JBrowse link
G Dclk2 doublecortin-like kinase 2 ISO ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 ClinVar PMID:24088041 PMID:25741868 PMID:31690835 NCBI chr 2:172,202,733...172,338,411
Ensembl chr 2:172,208,706...172,338,250 		JBrowse link
G Klhl3 kelch-like family member 3 ISO ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 | ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant ClinVar PMID:9536098 PMID:17576681 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
ISS		 ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 | ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant
OMIM:177735		 ClinVar
MouseDO
OMIM
RGD		 PMID:9536098 PMID:9662404 PMID:10884226 PMID:11134129 PMID:11344206 More... RGD:1600930 NCBI chr19:47,619,853...47,964,089
Ensembl chr19:30,715,648...31,059,885 		JBrowse link
G Stx16 syntaxin 16 ISO ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 ClinVar PMID:25741868 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 PMID:25741868 NCBI chr 4:159,795,115...159,801,571
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: Autosomal recessive pseudohypoaldosteronism type 1 | ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Recessive ClinVar PMID:24033266 PMID:25741868 PMID:28492532 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 ISS
ISO		 OMIM:264350
ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Recessive		 MouseDO
ClinVar		 PMID:9576123 PMID:9674649 PMID:15661075 PMID:16207733 PMID:18507830 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
ISS		 ClinVar Annotator: match by term: Autosomal recessive pseudohypoaldosteronism type 1 | ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Recessive
OMIM:264350		 ClinVar
MouseDO		 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
Pseudohypoaldosteronism Type IB1, Autosomal Recessive 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 IB1, autosomal recessive ClinVar PMID:25741868 NCBI chr 4:159,795,115...159,801,571
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 IB1, autosomal recessive OMIM
ClinVar		 PMID:1506904 PMID:10403853 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 IB1, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Pseudohypoaldosteronism, type IB1, autosomal recessive ClinVar 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 IB1, autosomal recessive ClinVar PMID:10391210 PMID:12473862 PMID:15198480 PMID:17460608 PMID:17634077 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 IB1, autosomal recessive ClinVar PMID:25741868 NCBI chr 4:159,837,119...159,849,817
Ensembl chr 4:158,150,820...158,163,591 		JBrowse link
Pseudohypoaldosteronism Type IB2, Autosomal Recessive term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scnn1b sodium channel epithelial 1 subunit beta ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism, type IB2, autosomal recessive OMIM
ClinVar		 PMID:8589714 PMID:9118951 PMID:12107247 PMID:12714866 PMID:15853823 More... NCBI chr 1:176,430,063...176,484,451
Ensembl chr 1:176,430,103...176,484,451 		JBrowse link
PSEUDOHYPOALDOSTERONISM, TYPE IB3, AUTOSOMAL RECESSIVE term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scnn1g sodium channel epithelial 1 subunit gamma ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism, type IB3, autosomal recessive OMIM
ClinVar		 PMID:8640238 PMID:11231969 PMID:12473862 PMID:15198480 PMID:17634077 More... NCBI chr 1:176,304,942...176,338,816
Ensembl chr 1:176,304,942...176,338,816 		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:23387299 PMID:23665031 PMID:24821705 More... NCBI chr17:6,523,089...6,645,971
Ensembl chr17:6,521,912...6,642,154 		JBrowse link
G Wnk1 WNK lysine deficient protein kinase 1 ISO ClinVar Annotator: match by term: Gordon hyperkalemia-hypertension syndrome ClinVar PMID:25741868 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 PMID:25741868 PMID:28492532 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 | ClinVar Annotator: match by term: WNK4-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 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 Wnk1 WNK lysine deficient protein kinase 1 ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism type 2C
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 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 term: KLHL3-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:22266938 PMID:22406640 PMID:23387299 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: CUL3-related disorder | ClinVar Annotator: match by term: Pseudohypoaldosteronism type 2E OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:22266938 PMID:25741868 PMID:28492532 More... 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 19140
    Nutritional and Metabolic Diseases 8545
      disease of metabolism 8545
        inherited metabolic disorder 6628
          renal tubular transport disease 111
            pseudohypoaldosteronism 14
              Pseudohypoaldosteronism, Type IIA 4
              Pseudohypoaldosteronism, Type IIB 1
              Pseudohypoaldosteronism, Type IIC 1
              Pseudohypoaldosteronism, Type IID 1
              Pseudohypoaldosteronism, Type IIE 1
              Tunglang Savage Bellman Syndrome 0
              autosomal dominant pseudohypoaldosteronism type 1 5
              autosomal recessive pseudohypoaldosteronism type 1 + 5
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      Urogenital Diseases 5402
        urinary system disease 2834
          kidney disease 2580
            renal tubular transport disease 111
              pseudohypoaldosteronism 14
                Pseudohypoaldosteronism, Type IIA 4
                Pseudohypoaldosteronism, Type IIB 1
                Pseudohypoaldosteronism, Type IIC 1
                Pseudohypoaldosteronism, Type IID 1
                Pseudohypoaldosteronism, Type IIE 1
                Tunglang Savage Bellman Syndrome 0
                autosomal dominant pseudohypoaldosteronism type 1 5
                autosomal recessive pseudohypoaldosteronism type 1 + 5
paths to the root