ONTOLOGY REPORT - ANNOTATIONS


Term:Pseudohypoaldosteronism
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Accession:RDO:0002655 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;   Gordon Hyperkalemia Hypertension Syndrome;   Hyperpotassemia and Hypertension, Familial;   PHA I, AUTOSOMAL DOMINANT;   PHA I, AUTOSOMAL RECESSIVE;   PHA1A;   PHA1B;   PHA2A;   PHP IB;   PHP IC;   PHP1B;   PHP1C;   PSEUDOHYPOALDOSTERONISM, TYPE IIA;   PSEUDOHYPOPARATHYROIDISM, TYPE IB;   PSEUDOHYPOPARATHYROIDISM, TYPE IC;   Pseudohypoaldosteronism Type 1;   Pseudohypoaldosteronism Type 1, Autosomal Dominant;   Pseudohypoaldosteronism Type 1, Autosomal Recessive;   Pseudohypoaldosteronism Type 1s;   Pseudohypoaldosteronism Type 2;   Pseudohypoaldosteronism Type 2s;   Pseudohypoaldosteronism, Type I, Autosomal Dominant;   Pseudohypoaldosteronism, Type I, Autosomal Recessive;   Pseudohypoaldosteronisms;   Type I Pseudohypoaldosteronism;   Type I Pseudohypoaldosteronisms;   Type II Pseudohypoaldosteronism;   Type II Pseudohypoaldosteronisms
 primary_id: MESH:D011546
 alt_id: OMIM:145260;   OMIM:177735;   OMIM:264350;   OMIM:603233;   OMIM:612462


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Pseudohypoaldosteronism term browser
Symbol Object Name GBrowse Evidence Chr Start Stop Reference Source
G Gnas GNAS complex locus GBrowse link ISS 3 165,213,399 165,214,551 RGD:7240710 OMIM
G Nr3c2 nuclear receptor subfamily 3, group C, member 2 GBrowse link ISS 19 32,527,752 32,875,369 RGD:1600927 RGD
G Nr3c2 nuclear receptor subfamily 3, group C, member 2 GBrowse link ISS 19 32,527,752 32,875,369 RGD:1600930 RGD
G Nr3c2 nuclear receptor subfamily 3, group C, member 2 GBrowse link ISS 19 32,527,752 32,875,369 RGD:7240710 OMIM
G Scnn1a sodium channel, nonvoltage-gated 1 alpha GBrowse link ISS 4 161,445,936 161,469,267 RGD:1624117 RGD
G Scnn1a sodium channel, nonvoltage-gated 1 alpha GBrowse link ISS 4 161,445,936 161,469,267 RGD:7240710 OMIM
G Scnn1b sodium channel, nonvoltage-gated 1, beta GBrowse link ISS 1 180,682,622 180,748,068 RGD:1624117 RGD
G Scnn1b sodium channel, nonvoltage-gated 1, beta GBrowse link ISS 1 180,682,622 180,748,068 RGD:7240710 OMIM
G Scnn1g sodium channel, nonvoltage-gated 1, gamma GBrowse link ISS 1 180,555,660 180,589,534 RGD:1624147 RGD
G Scnn1g sodium channel, nonvoltage-gated 1, gamma GBrowse link ISS 1 180,555,660 180,589,534 RGD:7240710 OMIM
G Stx16 syntaxin 16 GBrowse link ISS 3 164,995,189 165,022,884 RGD:7240710 OMIM
G Wnk1 WNK lysine deficient protein kinase 1 GBrowse link ISS 4 156,297,841 156,421,820 RGD:1580828 RGD
G Wnk1 WNK lysine deficient protein kinase 1 GBrowse link ISS 4 156,297,841 156,421,820 RGD:2298790 RGD
G Wnk4 WNK lysine deficient protein kinase 4 GBrowse link ISS 10 90,289,273 90,306,225 RGD:1580828 RGD
G Wnk4 WNK lysine deficient protein kinase 4 GBrowse link ISS 10 90,289,273 90,306,225 RGD:2298790 RGD

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  Diseases 30477
    Nutritional and Metabolic Diseases 5272
      Metabolic Diseases 4653
        Metabolism, Inborn Errors 999
          Renal Tubular Transport, Inborn Errors 89
            Pseudohypoaldosteronism 15
              Pseudohypoaldosteronism, Type IIa 0
              Pseudohypoaldosteronism, Type IIb 0
              Pseudohypoaldosteronism, Type IIc 0
              Tunglang Savage Bellman syndrome 0
Path 2
Term Annotations click to browse term
  Diseases 30477
    Female Urogenital Diseases and Pregnancy Complications 4090
      Female Urogenital Diseases 3887
        Urologic Diseases 2439
          Kidney Diseases 1871
            Renal Tubular Transport, Inborn Errors 89
              Pseudohypoaldosteronism 15
                Pseudohypoaldosteronism, Type IIa 0
                Pseudohypoaldosteronism, Type IIb 0
                Pseudohypoaldosteronism, Type IIc 0
                Tunglang Savage Bellman syndrome 0
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