eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| central diabetes insipidus | ||||
| Disease ID | 82 |
|---|---|
| Disease | central diabetes insipidus |
| Definition | A genetic or acquired polyuric disorder caused by a deficiency of VASOPRESSINS secreted by the NEUROHYPOPHYSIS. Clinical signs include the excretion of large volumes of dilute URINE; HYPERNATREMIA; THIRST; and polydipsia. Etiologies include HEAD TRAUMA; surgeries and diseases involving the HYPOTHALAMUS and the PITUITARY GLAND. This disorder may also be caused by mutations of genes such as ARVP encoding vasopressin and its corresponding neurophysin (NEUROPHYSINS). |
| Synonym | antidiuretic hormone defective syndrome central diabetes insipidus (disorder) central diabetes insipidus [ambiguous] cranial diabetes insipidus diabetes insipidus - pituitary diabetes insipidus cranial type diabetes insipidus primary central diabetes insipidus secondary to vasopressin deficiency diabetes insipidus, central diabetes insipidus, cranial type diabetes insipidus, neurogenic diabetes insipidus, neurogenic [disease/finding] diabetes insipidus, neurohypophyseal diabetes insipidus, neurohypophyseal type diabetes insipidus, pituitary diabetes insipidus, primary central neurogenic diabetes insipidus neurohypophyseal diabetes insipidus neurohypophyseal diabetes insipidus (disorder) neurohypophyseal diabetes insipidus, nos pituitary diabetes insipidus primary central diabetes insipidus vasopressin defective diabetes insipidus vasopressin deficiency vasopressin deficiency syndrome vasopressin deficiency syndrome (disorder) |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0687720 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:22) C0019618 | histiocytosis | 2 C0019621 | langerhans cell histiocytosis | 2 C0242342 | sheehan's syndrome | 1 C0026986 | myelodysplastic syndrome | 1 C0022679 | cystic kidney | 1 C0009447 | common variable immunodeficiency | 1 C0024291 | hemophagocytic lymphohistiocytosis | 1 C1565489 | renal insufficiency | 1 C0020635 | pituitary insufficiency | 1 C0011848 | diabetes insipidus | 1 C0027726 | nephrotic syndrome | 1 C0001623 | adrenal insufficiency | 1 C0022658 | kidney disease | 1 C0036202 | sarcoidosis | 1 C0376358 | prostate cancer | 1 C0025309 | meningoencephalitis | 1 C0242343 | panhypopituitarism | 1 C0242342 | sheehan syndrome | 1 C0011847 | diabetes | 1 C0085413 | adult polycystic kidney disease | 1 C0009782 | connective tissue disease | 1 C0026272 | mixed connective tissue disease | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:24) 393 | ARHGAP4 | 2.414 | DISEASES 551 | AVP | 7.311 | DISEASES 554 | AVPR2 | 4.539 | DISEASES 7809 | BSND | 1.561 | DISEASES 153571 | C5orf38 | 1.745 | DISEASES 50489 | CD207 | 2.061 | DISEASES 1187 | CLCNKA | 3.222 | DISEASES 1188 | CLCNKB | 2.267 | DISEASES 192668 | CYS1 | 1.587 | DISEASES 1660 | DHX9 | 1.333 | DISEASES 80712 | ESX1 | 1.371 | DISEASES 22862 | FNDC3A | 1.792 | DISEASES 9247 | GCM2 | 1.761 | DISEASES 2736 | GLI2 | 1.714 | DISEASES 2739 | GLO1 | 1.166 | DISEASES 10437 | IFI30 | 1.99 | DISEASES 3758 | KCNJ1 | 1.12 | DISEASES 3897 | L1CAM | 1.282 | DISEASES 594857 | NPS | 1.864 | DISEASES 22895 | RPH3A | 3.584 | DISEASES 6557 | SLC12A1 | 2.033 | DISEASES 6559 | SLC12A3 | 1.624 | DISEASES 6658 | SOX3 | 1.573 | DISEASES 7546 | ZIC2 | 1.646 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 82 |
|---|---|
| Disease | central diabetes insipidus |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:9) |
| 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:16) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121964882 | NA | 551 | AVP | umls:C0687720 | CLINVAR | NA | 0.555999537 | NA | AVP | 20 | 3083037 | C | T |
| rs121964883 | NA | 551 | AVP | umls:C0687720 | CLINVAR | NA | 0.555999537 | NA | AVP | 20 | 3083156 | C | A |
| rs121964884 | NA | 551 | AVP | umls:C0687720 | CLINVAR | NA | 0.555999537 | NA | AVP | 20 | 3083005 | G | T,A |
| rs121964885 | NA | 551 | AVP | umls:C0687720 | CLINVAR | NA | 0.555999537 | NA | AVP | 20 | 3083022 | C | A |
| rs121964886 | NA | 551 | AVP | umls:C0687720 | CLINVAR | NA | 0.555999537 | NA | AVP | 20 | 3083012 | C | A |
| rs121964887 | NA | 551 | AVP | umls:C0687720 | CLINVAR | NA | 0.555999537 | NA | AVP | 20 | 3083138 | C | A |
| rs121964888 | NA | 551 | AVP | umls:C0687720 | CLINVAR | NA | 0.555999537 | NA | AVP | 20 | 3083139 | C | G |
| rs121964889 | NA | 551 | AVP | umls:C0687720 | CLINVAR | NA | 0.555999537 | NA | AVP | 20 | 3082788 | C | T,A |
| rs121964890 | NA | 551 | AVP | umls:C0687720 | CLINVAR | NA | 0.555999537 | NA | AVP | 20 | 3083039 | G | A |
| rs121964891 | NA | 551 | AVP | umls:C0687720 | CLINVAR | NA | 0.555999537 | NA | AVP | 20 | 3083024 | C | T |
| rs121964893 | NA | 551 | AVP | umls:C0687720 | CLINVAR | NA | 0.555999537 | NA | AVP | 20 | 3084614 | A | G |
| rs28934878 | 14673472 | 551 | AVP | umls:C0687720 | UNIPROT | Six novel mutations in the arginine vasopressin gene in 15 kindreds with autosomal dominant familial neurohypophyseal diabetes insipidus give further insight into the pathogenesis. | 0.555999537 | 2004 | AVP | 20 | 3083099 | A | G |
| rs28934878 | NA | 551 | AVP | umls:C0687720 | CLINVAR | NA | 0.555999537 | NA | AVP | 20 | 3083099 | A | G |
| rs387906511 | NA | 551 | AVP | umls:C0687720 | CLINVAR | NA | 0.555999537 | NA | AVP | 20 | 3084620 | C | T |
| rs387906512 | NA | 551 | AVP | umls:C0687720 | CLINVAR | NA | 0.555999537 | NA | AVP | 20 | 3084619 | G | A |
| rs74315383 | NA | 551 | AVP | umls:C0687720 | CLINVAR | NA | 0.555999537 | NA | AVP | 20 | 3082779 | A | C |
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:0001939 | Abnormality of metabolism/homeostasis | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| HP:0002017 | Nausea and vomiting | MP:0010426 | abnormal heart and great artery attachment | any anomaly in the in the position or pattern of the connection site of the heart to any of the great arteries, including the pulmonary artery and aorta |
| HP:0003196 | Short nose | MP:0002233 | abnormal nose morphology | any structural anomaly of the organ that is specialized for smell and is part of the respiratory system |
| HP:0001508 | Failure to thrive | MP:0013294 | prenatal lethality prior to heart atrial septation | death prior to the completion of heart atrial septation (Mus: E14.5-15.5) |
| HP:0001824 | Weight loss | MP:0005114 | premature hair loss | release of fur at an earlier than expected time |
Mapped by homologous gene(Total Items:29) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000739 | Anxiety | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001945 | Fever | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001944 | Dehydration | MP:0014206 | decreased intestinal epithelial sodium ion transmembrane transport | |
| HP:0002315 | Headache | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001250 | Seizures | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0003196 | Short nose | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000316 | Hypertelorism | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000445 | Wide nose | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| HP:0000873 | Diabetes insipidus | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0002900 | Hypokalemia | MP:0014206 | decreased intestinal epithelial sodium ion transmembrane transport | |
| HP:0000103 | Polyuria | MP:0013572 | abnormal parathyroid gland chief cell morphology | any structural anomaly of an epithelial cell that are collectively arranged in wide, irregular interconnecting columns in the parathyroid gland, that is responsible for the synthesis and secretion of parathyroid hormone (PTH) |
| HP:0000126 | Hydronephrosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001508 | Failure to thrive | 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:0002171 | Gliosis | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000938 | Osteopenia | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002014 | Diarrhea | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0002017 | Nausea and vomiting | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0000863 | Central diabetes insipidus | MP:0013282 | urinary bladder exstrophy | a herniation of the urinary bladder through an anterior abdominal wall defect; refers to congenital absence of a portion of the lower anterior abdominal wall and the anterior urinary bladder wall, with eversion of the posterior bladder wall through the de |
| HP:0002039 | Anorexia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001824 | Weight loss | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001939 | Abnormality of metabolism/homeostasis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001254 | Lethargy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001948 | Alkalosis | MP:0013278 | decreased fasted circulating glucose level | reduction in the amount of glucose in the blood at some defined time point after eating compared to controls |
| HP:0001262 | Somnolence | MP:0013504 | increased embryonic tissue cell apoptosis | increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death |
| HP:0000343 | Long philtrum | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001959 | Polydipsia | MP:0013572 | abnormal parathyroid gland chief cell morphology | any structural anomaly of an epithelial cell that are collectively arranged in wide, irregular interconnecting columns in the parathyroid gland, that is responsible for the synthesis and secretion of parathyroid hormone (PTH) |
| HP:0000017 | Nocturia | MP:0011108 | embryonic lethality during organogenesis, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between embryo turning and the completion of organogenesis (Mus: E9-9.5 to less than E14) |
| HP:0000716 | Depression | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002902 | Hyponatremia | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| Disease ID | 82 |
|---|---|
| Disease | central diabetes insipidus |
| Case | (Waiting for update.) |