PedAM
Pediatric Disease Annotations & Medicines
| diabetes insipidus, nephrogenic | ||||
| Disease ID | 868 |
|---|---|
| Disease | diabetes insipidus, nephrogenic |
| Definition | A genetic or acquired polyuric disorder characterized by persistent hypotonic urine and HYPOKALEMIA. This condition is due to renal tubular insensitivity to VASOPRESSIN and failure to reduce urine volume. It may be the result of mutations of genes encoding VASOPRESSIN RECEPTORS or AQUAPORIN-2; KIDNEY DISEASES; adverse drug effects; or complications from PREGNANCY. |
| Synonym | diabete insipidus nephrogenic diabetes insipidus nephrogenic diabetes insipidus, nephrogenic [disease/finding] ndi - nephrogenic diabetes insipidus nephrogen diabetes insip nephrogenic diabetes insipidus nephrogenic diabetes insipidus (disorder) nephrogenic diabetes insipidus -retired- nephrogenic diabetes insipidus, nos |
| Orphanet | |
| DOID | |
| ICD10 | |
| UMLS | C0162283 |
| MeSH | |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:3) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 868 |
|---|---|
| Disease | diabetes insipidus, nephrogenic |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 868 |
|---|---|
| Disease | diabetes insipidus, nephrogenic |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
All Snps(Total Genotypes:21) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894332 | 19701945 | 359 | AQP2 | umls:C0162283 | BeFree | Repulsion between Lys258 and upstream arginines explains the missorting of the AQP2 mutant p.Glu258Lys in nephrogenic diabetes insipidus. | 0.47863413 | 2009 | AQP2;LOC101927318 | 12 | 49955564 | G | A |
| rs104894339 | 15509592 | 359 | AQP2 | umls:C0162283 | BeFree | A novel mechanism in recessive nephrogenic diabetes insipidus: wild-type aquaporin-2 rescues the apical membrane expression of intracellularly retained AQP2-P262L. | 0.47863413 | 2004 | AQP2;LOC101927318 | 12 | 49955577 | C | T |
| rs104894749 | NA | 554 | AVPR2 | umls:C0162283 | CLINVAR | NA | 0.402629813 | NA | AVPR2 | X | 153906120 | A | G |
| rs104894750 | 7564126 | 554 | AVPR2 | umls:C0162283 | BeFree | Expression studies of two vasopressin V2 receptor gene mutations, R202C and 804insG, in nephrogenic diabetes insipidus. | 0.402629813 | 1995 | AVPR2 | X | 153906113 | C | T |
| rs104894760 | NA | 554 | AVPR2 | umls:C0162283 | CLINVAR | NA | 0.402629813 | NA | AVPR2 | X | 153905816 | C | T |
| rs104894761 | NA | 554 | AVPR2 | umls:C0162283 | CLINVAR | NA | 0.402629813 | NA | AVPR2 | X | 153905915 | C | G,T |
| rs139913957 | 19585583 | 359 | AQP2 | umls:C0162283 | BeFree | p.R254Q mutation in the aquaporin-2 water channel causing dominant nephrogenic diabetes insipidus is due to a lack of arginine vasopressin-induced phosphorylation. | 0.47863413 | 2009 | AQP2;LOC101927318 | 12 | 49955550 | G | A |
| rs139913957 | 19585583 | 551 | AVP | umls:C0162283 | BeFree | p.R254Q mutation in the aquaporin-2 water channel causing dominant nephrogenic diabetes insipidus is due to a lack of arginine vasopressin-induced phosphorylation. | 0.008957582 | 2009 | AQP2;LOC101927318 | 12 | 49955550 | G | A |
| rs193922112 | NA | 554 | AVPR2 | umls:C0162283 | CLINVAR | NA | 0.402629813 | NA | AVPR2 | X | 153905682 | T | C |
| rs193922113 | NA | 554 | AVPR2 | umls:C0162283 | CLINVAR | NA | 0.402629813 | NA | AVPR2 | X | 153905796 | T | C |
| rs193922114 | NA | 554 | AVPR2 | umls:C0162283 | CLINVAR | NA | 0.402629813 | NA | AVPR2 | X | 153905930 | T | - |
| rs193922115 | NA | 554 | AVPR2 | umls:C0162283 | CLINVAR | NA | 0.402629813 | NA | AVPR2 | X | 153905978 | C | - |
| rs193922116 | NA | 554 | AVPR2 | umls:C0162283 | CLINVAR | NA | 0.402629813 | NA | AVPR2 | X | 153906060 | G | - |
| rs193922117 | NA | 554 | AVPR2 | umls:C0162283 | CLINVAR | NA | 0.402629813 | NA | AVPR2 | X | 153906179 | C | T |
| rs193922118 | NA | 554 | AVPR2 | umls:C0162283 | CLINVAR | NA | 0.402629813 | NA | AVPR2 | X | 153906258 | GCCGGAC | - |
| rs193922119 | NA | 554 | AVPR2 | umls:C0162283 | CLINVAR | NA | 0.402629813 | NA | AVPR2 | X | 153906276 | G | - |
| rs193922120 | NA | 554 | AVPR2 | umls:C0162283 | CLINVAR | NA | 0.402629813 | NA | AVPR2 | X | 153906325 | GCT | - |
| rs193922121 | NA | 554 | AVPR2 | umls:C0162283 | CLINVAR | NA | 0.402629813 | NA | AVPR2 | X | 153906344 | - | T |
| rs193922122 | NA | 554 | AVPR2 | umls:C0162283 | CLINVAR | NA | 0.402629813 | NA | AVPR2 | X | 153906359 | G | C |
| rs193922123 | NA | 554 | AVPR2 | umls:C0162283 | CLINVAR | NA | 0.402629813 | NA | AVPR2 | X | 153906575 | C | A |
| rs193922494 | NA | 359 | AQP2 | umls:C0162283 | CLINVAR | NA | 0.47863413 | NA | AQP2;LOC101927318 | 12 | 49951053 | T | G |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
Chemical(Total Drugs:15) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0162283 | amiloride | D000584 | 2609-46-3 | diabetes insipidus, nephrogenic | MESH:D018500 | therapeutic | 11465810 | ||
| C0162283 | bendroflumethiazide | D001539 | 73-48-3 | diabetes insipidus, nephrogenic | MESH:D018500 | therapeutic | 11451787 | ||
| C0162283 | carbamazepine | D002220 | 298-46-4 | diabetes insipidus, nephrogenic | MESH:D018500 | therapeutic | 6408936 | ||
| C0162283 | foscarnet | D017245 | 4428-95-9 | diabetes insipidus, nephrogenic | MESH:D018500 | marker/mechanism | 8604715 | ||
| C0162283 | ifosfamide | D007069 | 3778-73-2 | diabetes insipidus, nephrogenic | MESH:D018500 | marker/mechanism | 2386379 | ||
| C0162283 | indinavir | D019469 | 150378-17-9 | diabetes insipidus, nephrogenic | MESH:D018500 | marker/mechanism | 12799577 | ||
| C0162283 | indomethacin | D007213 | 53-86-1 | diabetes insipidus, nephrogenic | MESH:D018500 | therapeutic | 1490662 | ||
| C0162283 | ketorolac | D020910 | 66635-83-4 | diabetes insipidus, nephrogenic | MESH:D018500 | therapeutic | 7587271 | ||
| C0162283 | liposomal amphotericin b | C068538 | - | diabetes insipidus, nephrogenic | MESH:D018500 | marker/mechanism | 11465810 | ||
| C0162283 | methotrexate | D008727 | 1959/5/2 | diabetes insipidus, nephrogenic | MESH:D018500 | marker/mechanism | 11886979 | ||
| C0162283 | rifampin | D012293 | 13292-46-1 | diabetes insipidus, nephrogenic | MESH:D018500 | marker/mechanism | 2773924 | ||
| C0162283 | ritonavir | D019438 | - | diabetes insipidus, nephrogenic | MESH:D018500 | marker/mechanism | 14689363 | ||
| C0162283 | spironolactone | D013148 | 1952/1/7 | diabetes insipidus, nephrogenic | MESH:D018500 | therapeutic | 11465810 | ||
| C0162283 | streptozocin | D013311 | 18883-66-4 | diabetes insipidus, nephrogenic | MESH:D018500 | marker/mechanism | 2949606 | ||
| C0162283 | tenofovir | D000068698 | - | diabetes insipidus, nephrogenic | MESH:D018500 | marker/mechanism | 12460055 | ||
FDA approved drug and dosage information(Total Drugs:4) | ||||||||
|---|---|---|---|---|---|---|---|---|
| DiseaseID | Drug_name | active_ingredients | strength | Dosage Form/Route | Marketing Status | TE code | RLD | RS |
| MESH:D018500 | norvir | ritonavir | 80MG/ML | SOLUTION;ORAL | Prescription | None | Yes | Yes |
| MESH:D018500 | norvir | ritonavir | 100MG | CAPSULE;ORAL | Discontinued | None | No | No |
| MESH:D018500 | norvir | ritonavir | 100MG | CAPSULE;ORAL | Prescription | None | Yes | Yes |
| MESH:D018500 | norvir | ritonavir | 100MG | TABLET;ORAL | Prescription | AB | Yes | Yes |
FDA labeling changes(Total Drugs:4) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DiseaseID | Pediatric_Labeling_Date | Trade_Name | Generic_Name_or_Proper_Name | Indications Studied | Label Changes Summary | Product Labeling | BPCA(B) | PREA(P) | BPCA(B) and PREA(P) | Pediatric Rule (R) | Sponsor | Pediatric Exclusivity Granted Date | NNPS |
| MESH:D018500 | 6/10/2005 | norvir | ritonavir | Treatment of HIV-infection in combination with other antiretroviral agents | Extended age range from 2 years down to 1 month AE profile in the pediatric population was similar to that for adults Information on dose and PK parameters | Labeling | B | - | - | - | Abbott | 06/14/2005 | FALSE' |
| MESH:D018500 | 6/10/2005 | norvir | ritonavir | Treatment of HIV-infection in combination with other antiretroviral agents | Extended age range from 2 years down to 1 month AE profile in the pediatric population was similar to that for adults Information on dose and PK parameters | Labeling | B | - | - | - | Abbott | 06/14/2005 | FALSE' |
| MESH:D018500 | 6/10/2005 | norvir | ritonavir | Treatment of HIV-infection in combination with other antiretroviral agents | Extended age range from 2 years down to 1 month AE profile in the pediatric population was similar to that for adults Information on dose and PK parameters | Labeling | B | - | - | - | Abbott | 06/14/2005 | FALSE' |
| MESH:D018500 | 6/10/2005 | norvir | ritonavir | Treatment of HIV-infection in combination with other antiretroviral agents | Extended age range from 2 years down to 1 month AE profile in the pediatric population was similar to that for adults Information on dose and PK parameters | Labeling | B | - | - | - | Abbott | 06/14/2005 | FALSE' |