eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| liddle syndrome | ||||
| Disease ID | 288 |
|---|---|
| Disease | liddle syndrome |
| Definition | Familial pseudoaldosteronism 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. |
| Synonym | liddle syndrome (disorder) liddle syndrome [disease/finding] liddle's syndrome liddle's syndrome (disorder) lidls pseudoaldosteronism pseudohyperaldosteronism pseudoprimary aldosteronism pseudoprimary aldosteronism (disorder) syndrome, liddle |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0221043 |
| MeSH | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:4) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:34) 183 | AGT | 3.851 | DISEASES 554 | AVPR2 | 1.986 | DISEASES 7809 | BSND | 2.599 | DISEASES 1184 | CLCN5 | 2.037 | DISEASES 1188 | CLCNKB | 2.908 | DISEASES 1585 | CYP11B2 | 4.065 | DISEASES 9734 | HDAC9 | 1.243 | DISEASES 9146 | HGS | 1.617 | DISEASES 3758 | KCNJ1 | 3.441 | DISEASES 3766 | KCNJ10 | 1.217 | DISEASES 9622 | KLK4 | 1.481 | DISEASES 4734 | NEDD4 | 6.069 | DISEASES 23327 | NEDD4L | 6.129 | DISEASES 4306 | NR3C2 | 4.426 | DISEASES 5873 | RAB27A | 1.404 | DISEASES 6337 | SCNN1A | 4.955 | DISEASES 6338 | SCNN1B | 6.264 | DISEASES 6339 | SCNN1D | 3.232 | DISEASES 5272 | SERPINB9 | 1.677 | DISEASES 6446 | SGK1 | 3.787 | DISEASES 6557 | SLC12A1 | 3.379 | DISEASES 6559 | SLC12A3 | 2.662 | DISEASES 6564 | SLC15A1 | 1.636 | DISEASES 6582 | SLC22A2 | 1.751 | DISEASES 9356 | SLC22A6 | 1.767 | DISEASES 9376 | SLC22A8 | 2.489 | DISEASES 8671 | SLC4A4 | 1.129 | DISEASES 8428 | STK24 | 2.394 | DISEASES 27347 | STK39 | 2.462 | DISEASES 94122 | SYTL5 | 3.11 | DISEASES 7317 | UBA1 | 1.828 | DISEASES 10477 | UBE2E3 | 3.948 | DISEASES 7329 | UBE2I | 1.401 | DISEASES 11060 | WWP2 | 3.182 | DISEASES |
| Locus | Symbol | Locus(Total Locus:2) |
| Disease ID | 288 |
|---|---|
| Disease | liddle syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:12) HP:0004319 | Mineralocorticoid insufficiency HP:0001324 | Muscle weakness HP:0002900 | Hypokalemia HP:0012378 | Fatigue HP:0011675 | Arrhythmia HP:0002019 | Constipation HP:0000822 | Hypertension HP:0003351 | Decreased plasma renin activity HP:0000112 | Nephropathy HP:0002637 | Cerebral ischemia HP:0001949 | Hypokalemic alkalosis HP:0000083 | Renal insufficiency |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:3) |
| Disease ID | 288 |
|---|---|
| Disease | liddle syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:5) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs137852704 | NA | 6338 | SCNN1B | umls:C0221043 | CLINVAR | NA | 0.561628651 | NA | SCNN1B | 16 | 23380574 | C | G,T |
| rs137852707 | NA | 6338 | SCNN1B | umls:C0221043 | CLINVAR | NA | 0.561628651 | NA | SCNN1B | 16 | 23380736 | T | C |
| rs137852708 | NA | 6338 | SCNN1B | umls:C0221043 | CLINVAR | NA | 0.561628651 | NA | SCNN1B | 16 | 23380727 | C | T |
| rs137853342 | NA | 6340 | SCNN1G | umls:C0221043 | CLINVAR | NA | 0.361628651 | NA | SCNN1G | 16 | 23215237 | G | A |
| rs387906402 | NA | 6338 | SCNN1B | umls:C0221043 | CLINVAR | NA | 0.561628651 | NA | SCNN1B | 16 | 23380725 | C | G,T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:5) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002637 | Cerebral ischemia | MP:0006190 | retinal ischemia | inadequate blood flow to the retina usually due to functional constriction or obstruction of a blood vessel |
| HP:0001324 | Muscle weakness | MP:0000746 | weakness | state of being infirm or less strong than normal |
| HP:0000083 | Renal insufficiency | MP:0003335 | exocrine pancreatic insufficiency | inadequate synthesis and/or secretion of digestive enzymes by the exocrine portion of the pancreas, usually due to loss of acinar tissue from idiopathic atrophy or acute or chronic inflammation, causing maldigestion and malabsorption of nutrients |
| HP:0003351 | Decreased circulating renin level | MP:0011553 | increased urine deoxycorticosterone level | an increased amount of deoxycorticosterone in the urine compared to the normal state |
| HP:0001949 | Hypokalemic alkalosis | MP:0003028 | alkalosis | a pathological condition characterized by a decrease in the hydrogen ion concentration in tissues and in blood; caused by an increase in the concentration of alkaline compounds, or by a decrease in the concentration of acidic compounds or carbon dioxide t |
Mapped by homologous gene(Total Items:12) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002900 | Hypokalemia | MP:0014206 | decreased intestinal epithelial sodium ion transmembrane transport | |
| HP:0000822 | Hypertension | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| HP:0001949 | Hypokalemic alkalosis | MP:0014206 | decreased intestinal epithelial sodium ion transmembrane transport | |
| HP:0011675 | Arrhythmia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000083 | Renal insufficiency | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000112 | Nephropathy | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0003351 | Decreased circulating renin level | MP:0014206 | decreased intestinal epithelial sodium ion transmembrane transport | |
| HP:0002019 | Constipation | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0002637 | Cerebral ischemia | MP:0014206 | decreased intestinal epithelial sodium ion transmembrane transport | |
| HP:0001324 | Muscle weakness | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0012378 | Fatigue | MP:0013659 | abnormal erythroid lineage cell morphology | any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes |
| HP:0004319 | Hypoaldosteronism | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| Disease ID | 288 |
|---|---|
| Disease | liddle syndrome |
| Case | (Waiting for update.) |