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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:Liddle syndrome
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Accession:DOID:0050477 term browser browse the term
Definition:Familial pseudoaldosteronism is characterized by autosomal dominant inheritance of hypertension with HYPOKALEMIA; ALKALOSIS; RENIN and ALDOSTERONE level decreases. It is caused by mutations in EPITHELIAL SODIUM CHANNELS beta and gamma subunits. Different mutations in the same EPITHELIAL SODIUM CHANNELS subunits can cause PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT.
Synonyms:exact_synonym: LIDLS;   Liddle's syndrome;   Pseudoaldosteronism
 primary_id: MESH:D056929
 alt_id: RDO:0007768
 xref: GARD:7381;   NCI:C84827;   OMIM:PS177200
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Liddle syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ren renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12185466 NCBI chr13:50,502,724...50,513,953
Ensembl chr13:50,502,724...50,514,151
JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:23348737 NCBI chr 4:157,834,339...157,860,472
Ensembl chr 4:157,836,912...157,860,049
JBrowse link
G Scnn1b sodium channel epithelial 1 subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:18398334 PMID:19344079, PMID:10589691 RGD:737753 NCBI chr 1:191,829,547...191,883,991
Ensembl chr 1:191,829,555...191,884,298
JBrowse link
G Scnn1g sodium channel epithelial 1 subunit gamma ISO DNA:nonsense mutation:exon:p.W574X (human) RGD PMID:7550319 RGD:737754 NCBI chr 1:191,704,397...191,738,271
Ensembl chr 1:191,704,311...191,738,268
JBrowse link
Liddle Syndrome 1 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: Liddle syndrome 1
ClinVar Annotator: match by term: Pseudoprimary hyperaldosteronism
ClinVar Annotator: match by term: LIDDLE SYNDROME 1
OMIM
ClinVar
PMID:7777572 PMID:7954808 PMID:8524790 PMID:8589714 PMID:8601645 PMID:9100575 PMID:9118951 PMID:9350583 PMID:9576123 PMID:9626162 PMID:9674649 PMID:10523338 PMID:11439319 PMID:14645220 PMID:15483078 PMID:15661075 PMID:16207733 PMID:18507830 PMID:19017867 PMID:19462466 PMID:21504729 PMID:22809657 PMID:24033266 PMID:25333069 PMID:25741868 PMID:25900089 PMID:26038974 PMID:26075967 PMID:26467025 PMID:27896928 PMID:27900368 PMID:28236585 PMID:28492532 NCBI chr 1:191,829,547...191,883,991
Ensembl chr 1:191,829,555...191,884,298
JBrowse link
G Scnn1g sodium channel epithelial 1 subunit gamma ISO ClinVar Annotator: match by term: LIDDLE SYNDROME 1 ClinVar NCBI chr 1:191,704,397...191,738,271
Ensembl chr 1:191,704,311...191,738,268
JBrowse link
Liddle Syndrome 2 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: LIDDLE SYNDROME 2 ClinVar
OMIM
PMID:7550319 PMID:10391210 PMID:12473862 PMID:15198480 PMID:17460608 PMID:17634077 PMID:18507830 PMID:19462466 PMID:20376790 PMID:21956615 PMID:22995991 PMID:23149595 PMID:24033266 PMID:24882431 PMID:25741868 PMID:25900089 PMID:26135620 PMID:26467025 PMID:26537344 PMID:27884173 PMID:28492532 PMID:28497567 PMID:29229744 PMID:31655555 NCBI chr 1:191,704,397...191,738,271
Ensembl chr 1:191,704,311...191,738,268
JBrowse link
Liddle Syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scnn1a sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: LIDDLE SYNDROME 3 ClinVar
OMIM
PMID:28710092 NCBI chr 4:157,834,339...157,860,472
Ensembl chr 4:157,836,912...157,860,049
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    syndrome 7036
      Liddle syndrome 4
        Liddle Syndrome 1 2
        Liddle Syndrome 2 1
        Liddle Syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      Urogenital Diseases 4146
        urinary system disease 2074
          kidney disease 1860
            renal tubular transport disease 91
              Liddle syndrome 4
                Liddle Syndrome 1 2
                Liddle Syndrome 2 1
                Liddle Syndrome 3 1
paths to the root