CDI
MCID: CNT122
MIFTS: 56

Central Diabetes Insipidus (CDI)

Categories: Endocrine diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Central Diabetes Insipidus

MalaCards integrated aliases for Central Diabetes Insipidus:

Name: Central Diabetes Insipidus 11 19 58 75 53 33
Neurogenic Diabetes Insipidus 19 58 33
Diabetes Insipidus Secondary to Vasopressin Deficiency 33
Adh - [antidiuretic Hormone Secretion] Deficiency 33
Neurohypophyseal Diabetes Insipidus 19
Diabetes Insipidus Neurohypophyseal 19
Primary Central Diabetes Insipidus 33
Antidiuretic Hormone Hyposecretion 33
Diabetes Insipidus Cranial Type 19
Vasopressin Deficiency Syndrome 33
Diabetes Insipidus Neurogenic 19
Pituitary Diabetes Insipidus 19
Diabetes Mellitus Insipidus 33
Familial Diabetes Insipidus 33
Di - [diabetes Insipidus] 33
Vasopressin Hyposecretion 33
Vasopressin Deficiency 33
Diabetes Insipidus 33
Doid:0081055 14
Cdi 58

Characteristics:


Inheritance:

Autosomal dominant,Autosomal recessive,X-linked dominant 58

Prevelance:

1-9/100000 (Europe) 58

Age Of Onset:

Childhood 58

Classifications:

Orphanet: 58  
Rare endocrine diseases


Summaries for Central Diabetes Insipidus

GARD: 19 Central diabetes insipidus (DI) is a form of DI that occurs when the body has lower than normal levels of antidiuretic hormone, which is characterized by frequent urination. When this hormone reaches the kidneys, it directs them to make less urine. The major symptoms of Central diabetes insipidus (DI) include urinating too much (polyuria), getting up at night to urinate (nocturia), and drinking too much liquids (polydipsia). Damage to the pituitary gland can be caused by different diseases as well as by head injuries, neurosurgery, or genetic disorders.

MalaCards based summary: Central Diabetes Insipidus, also known as neurogenic diabetes insipidus, is related to diabetes insipidus, neurohypophyseal and gestational diabetes insipidus. An important gene associated with Central Diabetes Insipidus is AVP (Arginine Vasopressin), and among its related pathways/superpathways are Aquaporin-mediated transport and Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell. The drugs Tolvaptan and Midazolam have been mentioned in the context of this disorder. Affiliated tissues include pituitary, hypothalamus and brain, and related phenotypes are failure to thrive and dehydration

Orphanet: 58 Central diabetes insipidus (CDI) is a hypothalamus-pituitary disease characterized by polyuria and polydipsia due to a vasopressin (AVP) deficiency. It can be inherited or acquired (hereditary CDI and acquired CDI; see these terms).

Disease Ontology: 11 A diabetes insipidus that is characterized by polyuria and polydipsia due to a deficiency in vasopressin synthesis.

Wikipedia: 75 Central diabetes insipidus, also called neurogenic diabetes insipidus, is a type of diabetes insipidus... more...

Related Diseases for Central Diabetes Insipidus

Diseases in the Diabetes Insipidus family:

Central Diabetes Insipidus Hereditary Central Diabetes Insipidus
Acquired Central Diabetes Insipidus

Diseases related to Central Diabetes Insipidus via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1167)
# Related Disease Score Top Affiliating Genes
1 diabetes insipidus, neurohypophyseal 32.6 POMC OXT NPTX2 AVPR2 AVP AQP2
2 gestational diabetes insipidus 32.5 NPTX2 LNPEP AVPR2 AVP AQP2
3 pituitary cancer 31.9 PRL POMC IGF1
4 nelson syndrome 31.9 PRL POMC
5 diabetes insipidus 31.2 PRL POMC OXT NPTX2 LNPEP GH1
6 premature ovarian failure 7 31.2 POMC GH1
7 dipsogenic diabetes insipidus 30.8 NPTX2 AVPR2 AVP AQP2
8 nephrogenic diabetes insipidus 30.7 OXT LNPEP AVPR2 AVP AQP2
9 neurotic disorder 30.6 POMC OXT
10 galactorrhea 30.6 PRL IGF1
11 nephrogenic syndrome of inappropriate antidiuresis 30.5 OXT AVPR2 AVP AQP2
12 inappropriate adh syndrome 30.5 PRL POMC OXT AVPR2 AVP AQP2
13 bartter disease 30.5 AVPR2 AVP AQP2
14 sphenoid sinusitis 30.4 POMC AVP
15 precocious puberty 30.4 GNRH1 GH1
16 hypogonadism 30.4 PRL POMC IGF1 GNRH1 GH1
17 hypokalemia 30.4 POMC AVPR2 AVP AQP2
18 abducens palsy 30.4 PRL POMC
19 lung oat cell carcinoma 30.4 POMC AVP
20 langerhans cell histiocytosis 30.3 CD1E CD1D CD1C CD1B CD1A
21 x-linked nephrogenic diabetes insipidus 30.3 AVPR2 AVP AQP2
22 cranial nerve palsy 30.3 PRL POMC AVP
23 hypopituitarism 30.2 TRH PRL POMC IGF1 GNRH1 GH1
24 intracranial hypertension 30.2 PRL POMC AVP
25 pituitary tumors 30.2 PRL IGF1 GH1
26 chiasmal syndrome 30.2 PRL POMC
27 central pontine myelinolysis 30.2 POMC AVPR2 AVP AQP2
28 craniopharyngioma 30.1 TRH PRL IGF1 GNRH1 GH1
29 hypothyroidism, congenital, nongoitrous, 4 30.1 PRL POMC IGF1 GH1
30 pituitary hypoplasia 30.0 PRL POMC IGF1
31 erdheim-chester disease 30.0 CD1E CD1C CD1B CD1A
32 hypogonadotropic hypogonadism 30.0 PRL POMC IGF1 GNRH1
33 anovulation 29.9 PRL IGF1 GNRH1
34 hypothyroidism 29.9 TRH PRL POMC IGF1 GNRH1 GH1
35 insulin-like growth factor i 29.9 PRL IGF1 GH1
36 pituitary-dependent cushing's disease 29.9 TRH PRL POMC GH1
37 pituitary hormone deficiency, combined, 2 29.8 TRH PRL POMC IGF1 GNRH1 GH1
38 glucose intolerance 29.8 PRL POMC IGF1 GH1
39 pituitary gland disease 29.8 TRH PRL POMC IGF1 GNRH1 GH1
40 empty sella syndrome 29.8 TRH PRL POMC IGF1 GNRH1 GH1
41 chromophobe adenoma 29.8 TRH PRL POMC GH1
42 acth deficiency, isolated 29.8 TRH PRL POMC
43 central precocious puberty 29.8 POMC IGF1 GNRH1
44 pheochromocytoma 29.8 RPH3A PRL POMC OXT IGF1
45 goiter 29.7 TRH PRL IGF1
46 acne 29.7 PRL POMC IGF1
47 pseudohypoparathyroidism 29.7 TRH PRL IGF1
48 growth hormone secreting pituitary adenoma 29.7 PRL POMC IGF1 GH1
49 mccune-albright syndrome 29.6 PRL POMC IGF1 GH1
50 anorexia nervosa 29.6 PRL POMC OXT IGF1 GH1

Graphical network of the top 20 diseases related to Central Diabetes Insipidus:



Diseases related to Central Diabetes Insipidus

Symptoms & Phenotypes for Central Diabetes Insipidus

Human phenotypes related to Central Diabetes Insipidus:

58 30 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001508
2 dehydration 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001944
3 polydipsia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001959
4 diabetes insipidus 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000873
5 anorexia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002039
6 weight loss 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001824
7 nocturia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000017
8 depression 58 30 Frequent (33%) Frequent (79-30%)
HP:0000716
9 fever 58 30 Frequent (33%) Frequent (79-30%)
HP:0001945
10 anxiety 58 30 Frequent (33%) Frequent (79-30%)
HP:0000739
11 headache 58 30 Frequent (33%) Frequent (79-30%)
HP:0002315
12 lethargy 58 30 Frequent (33%) Frequent (79-30%)
HP:0001254
13 excessive daytime somnolence 58 30 Frequent (33%) Frequent (79-30%)
HP:0001262
14 seizure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001250
15 nausea and vomiting 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002017
16 hyponatremia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002902
17 diarrhea 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002014

GenomeRNAi Phenotypes related to Central Diabetes Insipidus according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.13 AQP2 AVP AVPR2 CD1A CD1B CD1C
2 no effect GR00402-S-2 10.13 AQP2 AVPR2 CD1A CD1D CD1E GH1

MGI Mouse Phenotypes related to Central Diabetes Insipidus:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 9.32 AQP2 AVP AVPR2 CD1D GH1 GNRH1

Drugs & Therapeutics for Central Diabetes Insipidus

Drugs for Central Diabetes Insipidus (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 110)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tolvaptan Approved Phase 4 150683-30-0 216237
2
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
3
Exenatide Approved, Investigational Phase 4 141758-74-9 45588096
4
Hydrocortisone succinate Approved Phase 4 2203-97-6 3643
5
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
6
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 3640 5754
7
Lithium carbonate Approved Phase 4 554-13-2
8
Amiloride Approved Phase 4 17440-83-4, 2016-88-8, 2609-46-3 16231
9 Hormones Phase 4
10 Hemostatics Phase 4
11 Deamino Arginine Vasopressin Phase 4
12 Coagulants Phase 4
13 Vasoconstrictor Agents Phase 4
14 Anesthetics, General Phase 4
15 Anesthetics Phase 4
16 Pharmaceutical Solutions Phase 4
17 Neurotransmitter Agents Phase 4
18 Psychotropic Drugs Phase 4
19 Anti-Anxiety Agents Phase 4
20 Anesthetics, Intravenous Phase 4
21 Hypnotics and Sedatives Phase 4
22 GABA Modulators Phase 4
23 Hormone Antagonists Phase 4
24 Glucagon-Like Peptide 1 Phase 4
25 Incretins Phase 4
26 Anti-Obesity Agents Phase 4
27 Corticotropin-Releasing Hormone Phase 4
28 Hydrocortisone 17-butyrate 21-propionate Phase 4
29 Sodium Channel Blockers Phase 4
30 Diuretics, Potassium Sparing Phase 4
31 diuretics Phase 4
32
Satavaptan Investigational Phase 3 185913-78-4 158348
33
Atorvastatin Approved Phase 2 134523-00-5 60823
34
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
35
Tannic acid Approved Phase 2 1401-55-4 16129878 16129778
36
Dulaglutide Approved, Investigational Phase 2 923950-08-7
37 Hypoglycemic Agents Phase 2
38 Antimetabolites Phase 2
39 Hypolipidemic Agents Phase 2
40 Anticholesteremic Agents Phase 2
41 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
42 Lipid Regulating Agents Phase 2
43
Metformin Approved Phase 1 1115-70-4, 657-24-9 4091
44
Chlorpropamide Approved, Investigational 94-20-2 2727
45
Indomethacin Approved, Investigational 53-86-1 3715
46
Sodium citrate Approved, Investigational 68-04-2 23431961
47
Hydrochlorothiazide Approved, Vet_approved 58-93-5 3639
48
Sildenafil Approved, Investigational 139755-83-2, 171599-83-0 5212 135398744
49
Salmon calcitonin Approved, Investigational 47931-85-1 155817456
50
Chlorothiazide Approved, Vet_approved 58-94-6 2720

Interventional clinical trials:

(show top 50) (show all 81)
# Name Status NCT ID Phase Drugs
1 1-deamino 8-d-arginine Vasopressin in Percutaneous Ultrasound-guided Renal Biopsy: a Randomized Controlled Trial Completed NCT00748072 Phase 4 DDAVP;saline solution
2 Tolvaptan Treatment to Reverse Worsening Outpatient Heart Failure: Possible Role of Copeptin In Identifying Responders (TROUPER) Completed NCT02476409 Phase 4 tolvaptan
3 Pilot Study of the Relationship of Ambient Copeptin to the Aquaretic Effects of Tolvaptan in Patients With Heart Failure Completed NCT01346072 Phase 4 tolvaptan
4 The Effect of Midazolam Premedication on Copeptine Concentration in Blood Completed NCT03474939 Phase 4 Midazolam Oral Tablet
5 Identification and Clinical Relevance of an Oxytocin Deficient State: a Randomized, Crossover, Placebo-controlled, Proof-of-concept, Physiopathological Study (GLP1 Study) Recruiting NCT04897802 Phase 4 Experimental: GLP1-RA (exenatide) administration;Control: Placebo administration
6 Identification and Clinical Relevance of an Oxytocin Deficient State: a Randomized, Crossover, Placebo-controlled, Proof-of-concept Physiopathological Study (CRH Study) Recruiting NCT04902235 Phase 4 Experimental: CRH administration;Control: Placebo administration
7 AMIloride for the Treatment of Nephrogenic Diabetes Insipidus for Patients With Bipolar Disorder Treated With Lithium: a Randomized Controlled Trial Not yet recruiting NCT05044611 Phase 4 Anhydrous Amiloride Hydrochloride;Placebo
8 Acute Heart Failure With High Copeptin Levels Treated With Tolvaptan Targets Increased AVP Activation for Treatment Efficacy Unknown status NCT01733134 Phase 3 Tolvaptan;placebo
9 Peroral Administration of Different Doses of Desmopressin Administered as a New Orally-Disintegrating Tablet and Desmopressin for Nasal Administration in the Treatment of CDI in Japanese Patients Completed NCT01280188 Phase 3 Desmopressin Oral Melt;Desmopressin intranasal
10 A Multicenter, Uncontrolled, Open-label, Dose-titration Trial to Investigate the Efficacy and Safety of Tolvaptan Tablets in Patients With Hyponatremia in Syndrome of Inappropriate Antidiuretic Hormone Secretion (SIADH) Completed NCT03048747 Phase 3 Tolvaptan Oral Tablet
11 A Randomized, Double-Blind, Placebo-Group, Multicenter Study Evaluating the Efficacy and Safety of SR121463B in Patients With Syndrome of Inappropriate Antidiuretic Hormone Secretion Completed NCT00264927 Phase 3 SR121463B
12 An Open-Label, Multicenter Study Evaluating the Long-Term Safety and Efficacy of SR121463B in Patients With Syndrome of Inappropriate Antidiuretic Hormone Secretion Completed NCT00264914 Phase 3 SR121463B
13 Atorvastatin for the Treatment of Lithium-Induced Nephrogenic Diabetes Insipidus: A Randomized Controlled Trial Completed NCT02967653 Phase 2 Atorvastatin
14 A Phase 1b, Multicenter, Pilot, Randomized, Double-blind Trial to Determine the Pharmacokinetics and Pharmacodynamics of Orally Administered Tolvaptan 3.75, 7.5, and 15 mg Tablets in Subjects With Syndrome of Inappropriate Antidiuretic Hormone Secretion Completed NCT02009878 Phase 1, Phase 2 tolvaptan
15 Effects of GLP-1 Analogues on Fluid Intake in Patients With Primary Polydipsia: "The GOLD-Study" Completed NCT02770885 Phase 2 Dulaglutide;Placebo
16 A Randomized, Double-Blind, Placebo-Controlled, Parallel-Group, Dose-Escalation, Multicenter Study Evaluating the Efficacy and Safety of SR121463B in Patients With Syndrome of Inappropriate Antidiuretic Hormone Secretion. Completed NCT00032734 Phase 2 satavaptan (SR121463B)
17 AVERT Shock: Arginine Vasopressin During the Early Resuscitation of Traumatic Shock Completed NCT01611935 Phase 2 Vasopressin
18 A Multi-center, Open-Label, Exploratory Study to Assess the Efficacy of PB in Decreasing the Urine Output and Increasing the Urine Osmolality in Patients With Hereditary Nephrogenic Diabetes Insipidus, Patients With Autosomal Dominant Polycystic Kidney Disease Treated With Tolvaptan, And Severely Polyuric Patients With Previous Lithium Administration (Serendipity-PB1) Recruiting NCT05190744 Phase 2 PB
19 Effects of Intranasal Oxytocin in Patients With Central Diabetes Insipidus - A Pilot Study Not yet recruiting NCT04789148 Phase 1 Oxytocin nasal spray
20 Use of Metformin to Treat Patients With Congenital Nephrogenic Diabetes Insipidus (NDI) Terminated NCT02460354 Phase 1 Metformin
21 Study of Novel Types of Familial Diabetes Insipidus Unknown status NCT00004364 desmopressin
22 Perioperative Copeptin: Predictive Value and Risk Stratification in Patients Undergoing Major Surgery Unknown status NCT02687776
23 Study of Prognostic Value of Copeptin for Myocardial Infarct Size and 6-month Prognosis in Patients With ST-elevation Myocardial Infarction Undergoing Percutaneous Coronary Intervention: GOOD I Study Unknown status NCT03074214
24 Evaluation of Copeptin in Patients With Cirrhosis and Ascites Unknown status NCT03318601
25 Diagnostic Utility of Copeptin in Addition to High-sensitivity Cardiac Troponin for the Early Diagnosis of Non-ST-Elevation Acute Coronary Syndromes - The COPACS Study Unknown status NCT01962506
26 Copeptin as a Biomarker for Central Diabetes Insipidus Development Following Pituitary Surgery Completed NCT04369703
27 Study of the Pathogenesis and Pathophysiology of Familial Neurohypophyseal Diabetes Insipidus Completed NCT00004363 chlorpropamide;desmopressin
28 Vasopressin Deficiency in Hemorrhagic Shock Completed NCT01107314
29 Pharmacologic Treatment of Congenital Nephrogenic Diabetes Insipidus Completed NCT00478335 sildenafil;calcitonin;hydrochlorothiazide/amiloride;indomethacin;Placebo for sildenafil;placebo for calcitonin
30 Study of Genotype and Phenotype Expression in Congenital Nephrogenic Diabetes Insipidus Completed NCT00004360 chlorothiazide
31 Copeptin After a Subcutaneous Stimulation With Glucagon in Adults (Healthy Volunteers and Patients With Diabetes Insipidus or Primary Polydipsia) - The Glucacop-Study Completed NCT04550520
32 Copeptin in the Diagnosis and Differential Diagnosis of Diabetes Insipidus. The CoSIP-Study Completed NCT00757276
33 Use of Copeptin in the Differential Diagnosis of Diabetes insipidus-a Prospective International Study Completed NCT01940614
34 Circulating Oxytocin Changes in Response to the Oxytocin System Stimulator MDMA in Patients With Diabetes Insipidus and Healthy Controls Completed NCT04648137
35 Use of Copeptin Measurement After Arginine Infusion for the Differential Diagnosis of Diabetes Insipidus - the CARGOx Study Completed NCT03572166
36 Peer Support to Enhance Diabetes Shared Medical Appointments: Examining Comparative Effectiveness in VA Health Systems Completed NCT02132676
37 Urinary AQP2 Excretion in Hypercholesterolemic Patients as a Measure of Effect of Statin Therapy Completed NCT02523001
38 Tracking Neurodegeneration in Early Wolfram Syndrome Completed NCT02455414
39 Fetal Copeptin After Oxytocin Challenge Test Completed NCT01962701
40 Copeptin During a Standardized Psychological Stress Test Completed NCT01866137
41 Prognostic Value of Copeptin Level Before Cardiac Surgery and Involvement in Systemic Inflammatory Response Syndrome After Cardiopulmonary Bypass Completed NCT03288610
42 Copeptin as a Novel Diagnostic and Prognostic Marker in the Management of Neurological and Neurosurgical Patients With Sodium Imbalance The "COSMOS"-Study (Copeptin in Osmoregulation and Stress Assessment) Completed NCT00390962
43 Kinetics of Copeptin in Healthy Volunteers - a Prospective International Study Completed NCT02647736
44 Regulation of Arginine-vasopressin (AVP) in Psychiatric Disorders Completed NCT02626832
45 Serial Vasopressin and Copeptin Levels in Children With Sepsis and Septic Shock Completed NCT00698048
46 Serum Copeptin as a Predictor of the Risk of Hyponatremia After Transurethral Prostatectomy Completed NCT03912766
47 Copeptin After an Oral Stimulation With Macimorelin in Healthy Volunteers - The Macicop-Study Completed NCT03844217 Macimorelin 0.5mg/kg body weight;Macimorelin 0.75mg/kg body weight
48 The Circadian Rhythm of Copeptin Completed NCT02604875
49 Proadrenomedullin and Copeptin as Predictors of Vasopressor Requirements and Volume Resuscitation in Patients With Septic Shock Completed NCT03104933
50 The Influence of Water and Salt Intake on Copeptin Levels During Moderate Alcohol Consumption - a Pathophysiological Study Completed NCT03883503

Search NIH Clinical Center for Central Diabetes Insipidus

Genetic Tests for Central Diabetes Insipidus

Anatomical Context for Central Diabetes Insipidus

Organs/tissues related to Central Diabetes Insipidus:

MalaCards : Pituitary, Hypothalamus, Brain, Kidney, Liver, Heart, Lung

Publications for Central Diabetes Insipidus

Articles related to Central Diabetes Insipidus:

(show top 50) (show all 9411)
# Title Authors PMID Year
1
Clinical features and molecular analysis of arginine-vasopressin neurophysin II gene in long-term follow-up patients with idiopathic central diabetes insipidus. 53 62
20520956 2010
2
Panhypopituitarism due to metastases to the hypothalamus and the pituitary resulting from primary breast cancer: a case report and review of the literature. 53 62
19933072 2009
3
Identification, characterization and rescue of a novel vasopressin-2 receptor mutation causing nephrogenic diabetes insipidus. 53 62
19170711 2009
4
Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a novel mutation in arginine-vasopressin gene in a Brazilian family. 53 62
19169480 2008
5
Aquaporins: The renal water channels. 53 62
20142913 2008
6
[Mutations in the arginine vasopressin neurophysin-II gene in familial neurohypophyseal diabetes insipidus patients]. 53 62
18807739 2008
7
Mutation of Glu78 of the AVP-NPII gene impairs neurophysin as a carrier protein for arginine vasopressin in a family with neurohypophyseal diabetes insipidus. 53 62
18316776 2008
8
Corticotropin and cortisol response to maximal exercise testing in central diabetes insipidus. 53 62
17250506 2007
9
A novel heterozygous missense mutation in the vasopressin moiety is identified in a Japanese person with neurohypophyseal diabetes insipidus. 53 62
16682840 2006
10
Molecular biology of hereditary diabetes insipidus. 53 62
16093448 2005
11
A novel splice site mutation of the arginine vasopressin-neurophysin II gene identified in a kindred with autosomal dominant familial neurohypophyseal diabetes insipidus. 53 62
16006166 2005
12
Autosomal dominant neurohypophyseal diabetes insipidus with linkage to chromosome 20p13 but without mutations in the AVP-NPII gene. 53 62
15811933 2005
13
Identification of a novel mutation in the arginine vasopressin-neurophysin II gene affecting the sixth intrachain disulfide bridge of the neurophysin II moiety. 53 62
15538939 2004
14
Antidiuretic action of oxytocin is associated with increased urinary excretion of aquaporin-2. 53 62
15280526 2004
15
A novel mutation in the preprovasopressin gene identified in a kindred with autosomal dominant neurohypophyseal diabetes insipidus. 53 62
15070970 2004
16
Pituitary apoplexy due to prolactinoma in a Taiwanese boy: patient report and review of the literature. 53 62
14714755 2003
17
Progressive decline of vasopressin secretion in familial autosomal dominant neurohypophyseal diabetes insipidus presenting a novel mutation in the vasopressin-neurophysin II gene. 53 62
14510916 2003
18
Autosomal dominant familial neurohypophyseal diabetes insipidus. 53 62
12874957 2003
19
A signal peptide mutation of the arginine vasopressin gene in monozygotic twins. 53 62
12519420 2003
20
A missense mutation encoding Cys73Phe in neurophysin II is associated with autosomal dominant neurohypophyseal diabetes insipidus. 53 62
12359138 2002
21
Clinical and molecular analysis of three families with autosomal dominant neurohypophyseal diabetes insipidus associated with a novel and recurrent mutations in the vasopressin-neurophysin II gene. 53 62
11980620 2002
22
Identification of a novel mutation in the arginine vasopressin-neurophysin II gene in familial central diabetes insipidus. 53 62
12012274 2002
23
[Clinical thinking and decision making in practice. A patient with postpartum malaise, anorexia, and ventricular tachycardia]. 53 62
11770265 2001
24
Lymphocytic hypophysitis: report of an unusual case of a rare disorder. 53 62
11314750 2001
25
A missense mutation encoding cys(67) --> gly in neurophysin ii is associated with early onset autosomal dominant neurohypophyseal diabetes insipidus. 53 62
11161827 2001
26
A new mutation of the arginine vasopressin-neurophysin II gene in a family with autosomal dominant neurohypophyseal diabetes insipidus. 53 62
11748489 2001
27
Familial neurohypophyseal diabetes insipidus associated with a novel mutation in the vasopressin-neurophysin II gene. 53 62
10677561 2000
28
Urinary excretion of aquaporin-2 in pathological states of water metabolism. 53 62
10766399 2000
29
A novel arginine vasopressin-neurophysin II mutation causes autosomal dominant neurohypophyseal diabetes insipidus and morphologic pituitary changes. 53 62
11150885 2000
30
Urinary excretion of aquaporin-2 water channel differentiates psychogenic polydipsia from central diabetes insipidus. 53 62
10372737 1999
31
A novel mutation (R97C) in the neurophysin moiety of prepro-vasopressin-neurophysin II associated with autosomal-dominant neurohypophyseal diabetes insipidus. 53 62
10329029 1999
32
Ovulation induction with pulsatile GnRH in a patient with anovulation of hypothalamic origin and central diabetes insipidus. 53 62
9675568 1998
33
Identification of a novel nonsense mutation and a missense substitution in the vasopressin-neurophysin II gene in two Spanish kindreds with familial neurohypophyseal diabetes insipidus. 53 62
9580132 1998
34
Identification of mutations of the arginine vasopressin-neurophysin II gene in two kindreds with familial central diabetes insipidus. 53 62
9467595 1998
35
Autosomal dominant neurohypophyseal diabetes insipidus associated with a missense mutation encoding Gly23-->Val in neurophysin II. 53 62
9360520 1997
36
Urinary excretion of aquaporin-2 in the diagnosis of central diabetes insipidus. 53 62
9177390 1997
37
The management of diabetes insipidus in adults. 53 62
9201003 1997
38
Heterogeneity in clinical manifestation of autosomal dominant neurohypophyseal diabetes insipidus caused by a mutation encoding Ala-1-->Val in the signal peptide of the arginine vasopressin/neurophysin II/copeptin precursor. 53 62
8989232 1997
39
Recurrent mutations in the vasopressin-neurophysin II gene cause autosomal dominant neurohypophyseal diabetes insipidus. 53 62
8964872 1996
40
A new type of familial central diabetes insipidus caused by a single base substitution in the neurophysin II coding region of the vasopressin gene. 53 62
8626836 1996
41
A novel mutation in the coding region for neurophysin-II is associated with autosomal dominant neurohypophyseal diabetes insipidus. 53 62
8706292 1996
42
Urinary excretion of aquaporin-2 in patients with diabetes insipidus. 53 62
7537863 1995
43
Two novel mutations in the coding region for neurophysin-II associated with familial central diabetes insipidus. 53 62
7714110 1995
44
An extracellular residue determines the agonist specificity of V2 vasopressin receptors. 53 62
7698346 1995
45
Molecular biology of diabetes insipidus. 53 62
7541187 1995
46
A de novo mutation in the coding sequence for neurophysin-II (Pro24-->Leu) is associated with onset and transmission of autosomal dominant neurohypophyseal diabetes insipidus. 53 62
8045958 1994
47
Glu-47, which forms a salt bridge between neurophysin-II and arginine vasopressin, is deleted in patients with familial central diabetes insipidus. 53 62
8103767 1993
48
Detection of a novel arginine vasopressin defect by dideoxy fingerprinting. 53 62
8370681 1993
49
The human gene for oxytocin-neurophysin I (OXT) is physically mapped to chromosome 20p13 by in situ hybridization. 53 62
1486803 1992
50
A single base substitution in the coding region for neurophysin II associated with familial central diabetes insipidus. 53 62
1840604 1991

Variations for Central Diabetes Insipidus

Expression for Central Diabetes Insipidus

Search GEO for disease gene expression data for Central Diabetes Insipidus.

Pathways for Central Diabetes Insipidus

GO Terms for Central Diabetes Insipidus

Cellular components related to Central Diabetes Insipidus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.32 TRH PRL POMC OXT NPTX2 LNPEP
2 plasma membrane GO:0005887 10.16 AQP2 AVPR2 CD1A CD1C CD1D CD1E
3 plasma membrane GO:0005886 10.16 AQP2 AVPR2 CD1A CD1C CD1D CD1E
4 endosome GO:0005768 9.8 CD1E CD1D CD1C CD1B CD1A AVPR2
5 extracellular space GO:0005615 9.7 AVP CD1A CD1B CD1C CD1D CD1E
6 secretory granule GO:0030141 9.65 TRH RPH3A POMC OXT AVP

Biological processes related to Central Diabetes Insipidus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.25 AVP AVPR2 GH1 GNRH1 IGF1 LNPEP
2 cell-cell signaling GO:0007267 10.07 TRH POMC LNPEP GNRH1 AVP
3 positive regulation of T cell mediated cytotoxicity GO:0001916 9.85 CD1A CD1B CD1C CD1D CD1E
4 positive regulation of systemic arterial blood pressure GO:0003084 9.76 AVPR2 AVP
5 hyperosmotic salinity response GO:0042538 9.73 OXT AVP
6 antigen processing and presentation, exogenous lipid antigen via MHC class Ib GO:0048007 9.65 CD1E CD1D CD1C CD1B CD1A
7 negative regulation of urine volume GO:0035811 9.58 OXT AVPR2
8 maternal aggressive behavior GO:0002125 9.56 OXT AVP
9 antigen processing and presentation, endogenous lipid antigen via MHC class Ib GO:0048006 9.32 CD1E CD1D CD1C CD1B CD1A

Molecular functions related to Central Diabetes Insipidus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.97 AVP GH1 GNRH1 IGF1 OXT POMC
2 lipopeptide binding GO:0071723 9.96 CD1E CD1D CD1C CD1B CD1A
3 neurohypophyseal hormone activity GO:0005185 9.67 OXT AVP
4 exogenous lipid antigen binding GO:0030884 9.65 CD1E CD1D CD1C CD1B CD1A
5 prolactin receptor binding GO:0005148 9.62 PRL GH1
6 endogenous lipid antigen binding GO:0030883 9.32 CD1E CD1D CD1C CD1B CD1A

Sources for Central Diabetes Insipidus

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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