NDI
MCID: DBT087
MIFTS: 58

Diabetes Insipidus, Neurohypophyseal (NDI) malady

Categories: Genetic diseases, Rare diseases, Endocrine diseases, Nephrological diseases, Neuronal diseases

Aliases & Classifications for Diabetes Insipidus, Neurohypophyseal

Aliases & Descriptions for Diabetes Insipidus, Neurohypophyseal:

Name: Diabetes Insipidus, Neurohypophyseal 54 25 66 13
Central Diabetes Insipidus 12 50 25 56 52 69
Neurohypophyseal Diabetes Insipidus 12 50 24 25 14
Neurogenic Diabetes Insipidus 50 56 66
Pituitary Diabetes Insipidus 12 50 25
Cdi 56 66 3
Vasopressin Defective Diabetes Insipidus 12 25
Diabetes Insipidus Neurohypophyseal 50 29
Diabetes Insipidus Cranial Type 50 66
Diabetes Insipidus, Neurogenic 25 42
Vasopressin Deficiency 12 25
Diabetes Insipidus Secondary to Vasopressin Deficiency 25
Primary Central Diabetes Insipidus 66
Diabetes Insipidus Neurogenic 50
Diabetes Insipidus, Pituitary 25
Diabetes Insipidus, Central 25
Ndi 66

Characteristics:

Orphanet epidemiological data:

56
central diabetes insipidus
Inheritance: Autosomal dominant,Autosomal recessive,X-linked dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood; Age of death: normal life expectancy;

HPO:

32
diabetes insipidus, neurohypophyseal:
Inheritance autosomal dominant inheritance x-linked inheritance


Classifications:

Orphanet: 56  
Rare endocrine diseases


External Ids:

OMIM 54 125700
Disease Ontology 12 DOID:12388
MeSH 42 D020790
NCIt 47 C84933
Orphanet 56 ORPHA178029
ICD10 via Orphanet 34 E23.2
MESH via Orphanet 43 D020790
UMLS via Orphanet 70 C0687720
MedGen 40 C0687720
UMLS 69 C0687720

Summaries for Diabetes Insipidus, Neurohypophyseal

NIH Rare Diseases : 50 central diabetes insipidus (di) is a form of di that occurs when the body has lower than normal levels of antidiuretic hormone (vasopressin), which is characterized by frequent urination. diabetes insipidus is subdivided into central and nephrogenic di. two other forms are gestational di and primary polydipsia (dipsogenic di). central di results from damage to the pituitary gland, which disrupts the normal storage and release of antidiuretic hormone (adh). 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. the three main options for the treatment of central di include a synthetic hormone called desmopressin, which can be taken by as an injection, a nasal spray, or a pill; other drugs, such as chlorpropamide, carbamazepine, thiazide diuretics, and nonsteroidal anti-inflammatory drugs; and a low-solute (mostly low-sodium, low-protein) diet. last updated: 12/27/2016

MalaCards based summary : Diabetes Insipidus, Neurohypophyseal, also known as central diabetes insipidus, is related to hereditary central diabetes insipidus and acquired central diabetes insipidus, and has symptoms including fever, headache and seizures. An important gene associated with Diabetes Insipidus, Neurohypophyseal is AVP (Arginine Vasopressin), and among its related pathways/superpathways are Peptide ligand-binding receptors and Aquaporin-mediated transport. The drugs Tolvaptan and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include pituitary, kidney and brain, and related phenotypes are behavior/neurological and homeostasis/metabolism

UniProtKB/Swiss-Prot : 66 Diabetes insipidus, neurohypophyseal: A disease characterized by persistent thirst, polydipsia and polyuria. Affected individuals are apparently normal at birth, but characteristically develop symptoms of vasopressin deficiency during childhood.

CDC : 3 Indicators for Chronic Disease Surveillance - United States, 2013

Genetics Home Reference : 25 Neurohypophyseal diabetes insipidus is a disorder of water balance. The body normally balances fluid intake with the excretion of fluid in urine. However, people with neurohypophyseal diabetes insipidus produce too much urine (polyuria), which causes them to be excessively thirsty (polydipsia). Affected people need to urinate frequently, which can disrupt daily activities and sleep.

OMIM : 54 Neurohypophyseal diabetes insipidus is an autosomal dominant disorder of free water conservation characterized by... (125700) more...

Wikipedia : 71 Central diabetes insipidus, also called neurogenic diabetes insipidus, is a type of diabetes insipidus... more...

Related Diseases for Diabetes Insipidus, Neurohypophyseal

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

(show top 50) (show all 80)
id Related Disease Score Top Affiliating Genes
1 hereditary central diabetes insipidus 12.2
2 acquired central diabetes insipidus 12.2
3 diabetes insipidus, nephrogenic 11.0
4 chromosome xq28 duplication syndrome 10.2 AVP AVPR2
5 diverticulitis of colon 10.2 AVP AVPR2
6 cataract 29, coralliform 10.2 AQP2 AVP
7 intestinal disaccharidase deficiency 10.2 AQP2 AVP
8 diabetes insipidus 10.2
9 laryngitis 10.2 AQP2 AVP
10 macular retinal edema 10.2 AVP POMC
11 bagassosis 10.2 AVP POMC
12 childhood kidney cell carcinoma 10.2 AVP POMC
13 central nervous system sarcoma 10.2 AVP PRL
14 gonococcal seminal vesiculitis 10.2 AVP POMC
15 generalized anxiety disorder 10.2 AVPR2 POMC
16 early-onset parkinson disease 10.2 AVPR2 POMC
17 congenital tricuspid stenosis 10.2 POMC PRL
18 pharynx cancer 10.1 AVP POMC
19 wheat allergy 10.1 POMC PRL
20 pancreatic colloid cystadenoma 10.1 POMC PRL
21 nonparalytic poliomyelitis 10.1 POMC PRL
22 dacryoadenitis 10.1 POMC PRL
23 sternum lymphoma 10.1 AVP POMC
24 l-cell glucagon-like peptide producing tumor 10.1 PRL SOX3
25 protein s deficiency 10.1 POMC PRL
26 caudal regression syndrome 10.1 POMC PRL
27 pulmonary neuroendocrine tumor 10.1 POMC PRL
28 plasmalogens synthesis deficiency isolated 10.1 PRL SOX3
29 acute laryngitis 10.1 POMC PRL
30 merkel cell carcinoma 10.1 POMC PRL
31 esophagus squamous cell papilloma 10.1 POMC PRL
32 prediabetes syndrome 10.1 AQP2 AVP AVPR2
33 infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations 10.1 POMC PRL
34 capillary disease 10.1 POMC PRL
35 rheumatic encephalitis 10.1 POMC PRL
36 aorta angiosarcoma 10.1 AQP2 POMC
37 adult i blood group with or without congenital cataract 10.1 POMC PRL
38 immune system organ benign neoplasm 10.1 POMC PRL
39 calcinosis 10.1 AQP2 AVP POMC
40 transmitted_by 10.0 POMC PRL
41 epileptic encephalopathy, early infantile, 26 10.0 AVPR2 GNRH1
42 endometriosis 10.0 GNRH1 PRL
43 diverticulitis 10.0 GNRH1 PRL
44 bone benign neoplasm 10.0 AVP POMC PRL
45 cold-induced sweating syndrome 2 10.0 POMC PRL
46 spastic paraplegia 39, autosomal recessive 10.0 GNRH1 SOX3
47 chondroma 10.0 AVP POMC
48 endocrine organ benign neoplasm 10.0 POMC PRL
49 benign peritoneal mesothelioma 10.0 GNRH1 POMC
50 haverhill fever 10.0 GNRH1 PRL

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



Diseases related to Diabetes Insipidus, Neurohypophyseal

Symptoms & Phenotypes for Diabetes Insipidus, Neurohypophyseal

Symptoms by clinical synopsis from OMIM:

125700

Clinical features from OMIM:

125700

Human phenotypes related to Diabetes Insipidus, Neurohypophyseal:

56 32 (show all 30)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fever 56 32 Frequent (79-30%) HP:0001945
2 headache 56 32 Frequent (79-30%) HP:0002315
3 seizures 56 32 Occasional (29-5%) HP:0001250
4 diarrhea 56 32 Occasional (29-5%) HP:0002014
5 nausea and vomiting 56 32 Occasional (29-5%) HP:0002017
6 lethargy 56 32 Frequent (79-30%) HP:0001254
7 polydipsia 56 32 Very frequent (99-80%) HP:0001959
8 depression 56 32 Frequent (79-30%) HP:0000716
9 failure to thrive 56 32 Very frequent (99-80%) HP:0001508
10 dehydration 56 32 Very frequent (99-80%) HP:0001944
11 weight loss 56 32 Very frequent (99-80%) HP:0001824
12 anxiety 56 32 Frequent (79-30%) HP:0000739
13 anorexia 56 32 Very frequent (99-80%) HP:0002039
14 diabetes insipidus 56 32 Very frequent (99-80%) HP:0000873
15 hyponatremia 56 32 Occasional (29-5%) HP:0002902
16 nocturia 56 32 Very frequent (99-80%) HP:0000017
17 polyuria 32 HP:0000103
18 excessive daytime somnolence 32 HP:0001262
19 hypertelorism 32 HP:0000316
20 osteopenia 32 HP:0000938
21 short nose 32 HP:0003196
22 hypokalemia 32 HP:0002900
23 abnormality of metabolism/homeostasis 32 HP:0001939
24 long philtrum 32 HP:0000343
25 hydronephrosis 32 HP:0000126
26 wide nose 32 HP:0000445
27 somnolence 56 Frequent (79-30%)
28 gliosis 32 HP:0002171
29 central diabetes insipidus 32 HP:0000863
30 alkalosis 32 HP:0001948

UMLS symptoms related to Diabetes Insipidus, Neurohypophyseal:


polyuria, polydipsia

MGI Mouse Phenotypes related to Diabetes Insipidus, Neurohypophyseal:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.8 AQP2 AVP AVPR2 LNPEP POMC PRL
2 homeostasis/metabolism MP:0005376 9.76 AQP2 AVP AVPR2 GNRH1 LNPEP POMC
3 integument MP:0010771 9.35 AQP2 AVPR2 GNRH1 POMC PRL
4 renal/urinary system MP:0005367 9.02 AQP2 AVP AVPR2 GNRH1 POMC

Drugs & Therapeutics for Diabetes Insipidus, Neurohypophyseal

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

(show top 50) (show all 313)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tolvaptan Approved Phase 4,Phase 2,Phase 3,Phase 1 150683-30-0 216237
2
Benzocaine Approved Phase 4,Phase 2 1994-09-7, 94-09-7 2337
3
Zinc Approved Phase 4 7440-66-6 32051 23994
4
Epinephrine Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 51-43-4 5816
5
Conivaptan Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 210101-16-9 151171
6
Norepinephrine Approved Phase 4,Phase 3,Phase 2 51-41-2 439260
7
Furosemide Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 54-31-9 3440
8
Misoprostol Approved Phase 4 59122-46-2 5282381
9
Ephedrine Approved Phase 4,Phase 2 299-42-3 9294
10
Oxymetazoline Approved Phase 4,Phase 2 1491-59-4 4636
11
Phenylephrine Approved Phase 4,Phase 2 59-42-7 6041
12
Pseudoephedrine Approved Phase 4,Phase 2 90-82-4 7028
13
Hydrocortisone Approved, Vet_approved Phase 4,Phase 3,Phase 2 50-23-7 5754 657311
14
Chlorothiazide Approved, Vet_approved Phase 4 58-94-6 2720
15
Dexmedetomidine Approved, Vet_approved Phase 4 76631-46-4, 113775-47-6 68602 5311068 56032
16
Metolazone Approved Phase 4,Phase 1 17560-51-9 4170
17 tannic acid Approved, Nutraceutical Phase 4,Phase 2
18
Butyric Acid Experimental Phase 4,Phase 3 107-92-6 264
19
Synephrine Experimental Phase 4 1994-07-5, 94-07-5 7172
20 Arginine Vasopressin Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
21 Hormones Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
22 Liver Extracts Phase 4,Phase 3,Phase 2,Phase 1
23 Natriuretic Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
24 Vasopressins Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
25 Coagulants Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
26 Deamino Arginine Vasopressin Phase 4,Phase 3,Phase 2,Phase 1
27 Hemostatics Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
28 Hypoglycemic Agents Phase 4,Phase 2,Phase 3,Phase 1
29 insulin Phase 4
30 Insulin, Globin Zinc Phase 4
31 Vasoconstrictor Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
32 Adrenergic Agents Phase 4,Phase 3,Phase 2,Phase 1
33 Adrenergic Agonists Phase 4,Phase 3,Phase 2,Phase 1
34 Adrenergic alpha-Agonists Phase 4,Phase 3,Phase 2,Phase 1
35 Adrenergic beta-Agonists Phase 4,Phase 3,Phase 2,Phase 1
36 Anti-Asthmatic Agents Phase 4,Phase 3,Phase 2,Phase 1
37 Autonomic Agents Phase 4,Phase 3,Phase 2,Phase 1
38 Bronchodilator Agents Phase 4,Phase 3,Phase 2,Phase 1
39 Epinephryl borate Phase 4,Phase 3,Phase 2,Phase 1
40 Mydriatics Phase 4,Phase 3,Phase 2,Phase 1
41 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1
42 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
43 Racepinephrine Phase 4,Phase 3,Phase 2,Phase 1
44 Respiratory System Agents Phase 4,Phase 3,Phase 2,Phase 1
45 diuretics Phase 4,Phase 3,Phase 2,Phase 1
46 Oxytocics Phase 4,Phase 2,Phase 1,Early Phase 1
47 Sodium Potassium Chloride Symporter Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
48 Analgesics Phase 4,Phase 3,Phase 2,Phase 1
49 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 2,Phase 1
50 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 314)
id Name Status NCT ID Phase
1 Tolvaptan for Hyponatremia in Cirrhotic Patients With Ascites Unknown status NCT01716611 Phase 4
2 Desmopressin for Improving Nocturnal Enuresis in Patients After Radical Cystectomy With Bladder Reconstruction Unknown status NCT01582542 Phase 4
3 Normoglycemia and Neurological Outcome Unknown status NCT01137773 Phase 4
4 Desmopressin Melt Therapy in Nocturnal Polyuria Patients: Pharmacodynamic Study Unknown status NCT01439997 Phase 4
5 Desmopressin for Bleeding Related to Low Body Temperature Unknown status NCT00902057 Phase 4
6 Effect of Samsca on Control of Hyponatremia and Extracellular Fluid in Cirrhotic Patients With Ascites Unknown status NCT01552590 Phase 4
7 1-deamino 8-d-arginine Vasopressin (DDAVP) in Percutaneous Ultrasound-guided Renal Biopsy Completed NCT00748072 Phase 4
8 Desmopressin in the Treatment of Mixed Nocturia With Nocturnal Polyuria and Low Nocturnal Bladder Capacity Completed NCT00902655 Phase 4
9 Vasopressin and Epinephrine Versus Epinephrine Alone in Cardiac Arrest Completed NCT00127907 Phase 4
10 Effects on Exercise Hemodynamics of Vasopressin Blockade by Conivaptan Infusion in Heart Failure Patients Completed NCT01752543 Phase 4
11 Tolvaptan for Ascites in Cirrhotic Patients Completed NCT01292304 Phase 4
12 Effect of Tolvaptan on Mid- to Long-term Prognosis of Heart Failure Patients Completed NCT01439009 Phase 4
13 A Study of Multiple Dosing Regimens of IV Conivaptan in Subjects With Euvolemic or Hypervolemic Hyponatremia Completed NCT00435591 Phase 4
14 Tolvaptan in Hyponatremic Cancer Patients Completed NCT01199198 Phase 4
15 Vasopressin Administration During Laparoscopic Myomectomy: a Randomized Controlled Trial Completed NCT01393704 Phase 4
16 Comparison of the Effects of Cervical Vasopressin Versus no Premedication on Blood Loss During Vaginal Hysterectomy: A Randomized, Placebo Controlled Trial Completed NCT00799292 Phase 4
17 Desmopressin in Cardiac Surgery Completed NCT00337766 Phase 4
18 Study of the Use of Misoprostol to Decrease Bleeding During a Myomectomy Completed NCT01700478 Phase 4
19 Desmopressin Melt: Impact on Sleep and Daytime Functioning Completed NCT01645475 Phase 4
20 Effects of Tolvaptan in Healthy Adults Completed NCT01973140 Phase 4
21 Effects of Desmopressin on Blood Loss and the Quality of the Surgical Field During Endoscopic Sinus Surgery Completed NCT02125188 Phase 4
22 Severe Aortic Stenosis and Acquired Von Willebrand´s Disease: The Impact of Desmopressin in Valve-Replacement Surgery Completed NCT01994330 Phase 4
23 Desmopressin Melt Therapy in Patients With Nocturnal Polyuria: a Pharmacokinetic/Dynamic Study Completed NCT01435083 Phase 4
24 Influence of Food-intake on Desmopressin Oral Tablets and MELT-formulation Completed NCT01036841 Phase 4
25 A Study of Oral Desmopressin in Previously Untreated Children Aged 5 to 15 Years With Primary Nocturnal Enuresis Completed NCT00245479 Phase 4
26 A 6-week Open Label Cross-over Study With 2 Different Daily Doses of Minirin® Oral Lyophilisate in Children and Adolescents With Primary Nocturnal Enuresis (PNE) Completed NCT00209261 Phase 4
27 Effects of Vasopressors on Immune Response Completed NCT02675868 Phase 4
28 Pilot Study of Using Copeptin to Predict Response to Tolvaptan Completed NCT01346072 Phase 4
29 Tolvaptan/Ultrafiltration in the Treatment of Acute Heart Failure Completed NCT01863511 Phase 4
30 The Safety and Efficacy of Tolvaptan for Patients With Tricuspid Regurgitation and Right Heart Failure After Left Heart Valves Replacement Completed NCT02644616 Phase 4
31 Effect of Dexmedetomidine on Plasmatic Cortisol Response in Transsphenoidal Surgery Recruiting NCT02549768 Phase 4
32 Vasoactive Drugs in Intensive Care Unit Recruiting NCT02118467 Phase 4
33 Aquaresis Utility for Hyponatremic Acute Heart Failure Study Recruiting NCT02183792 Phase 4
34 Pharmacokinetics and Pharmacodynamics of Desmopressin Oral Lyophilisate Formulation in the Paediatric Population Recruiting NCT02584231 Phase 4
35 Regional Tolvaptan Registry Recruiting NCT02666651 Phase 4
36 Outcome and Treatment Quality Study of Tolvaptan to Treat Hyponatremia in Patients With Heart Failure Recruiting NCT02352285 Phase 4
37 Tolvaptan for Advanced or Refractory Heart Failure Recruiting NCT02959411 Phase 4
38 Tolvaptan For Worsening Outpatient Heart Failure: Role of Copeptin In Identifying Responders Recruiting NCT02476409 Phase 4
39 NOrepinephrine and VasoprEssin Versus Norepinephrine aLone in Critically Ill Patients With Septic Shock Active, not recruiting NCT02454348 Phase 4
40 Comparison of Oral or Intravenous Thiazides vs Tolvaptan in Diuretic Resistant Decompensated Heart Failure Enrolling by invitation NCT02606253 Phase 4
41 DDAVP vs. Exercise Not yet recruiting NCT03136003 Phase 4
42 Vasoactive Hormones and Oxygen Saturation During Apneic Events in Patients With Obstructive Sleep Apnea Suspended NCT00438412 Phase 4
43 Effect of Desmopressin on the Nocturnal Micturition Frequency in Patients With Parkinson Disease Terminated NCT00806468 Phase 4
44 Tolvaptan to Reduce Length of Stay in Hospitalized Patients With Cirrhosis and Hyponatremia Terminated NCT01890694 Phase 4
45 Desmopressin as Treatment for Postoperative Bleeding After Cardiac Surgery Terminated NCT00885924 Phase 4
46 Use of Conivaptan (Vaprisol) for Hyponatremic Neuro-ICU Patients Terminated NCT00727090 Phase 4
47 Diuretic and Renal Effects of Vaprisol When Administered Along With Furosemide and Nesiritide Continuous Infusion Withdrawn NCT00806910 Phase 4
48 Urinary Aquaporine 2 in Patients With Syndrome of Inappropriate ADH-secretion Caused by Treatment With Antiepileptic Medicine Withdrawn NCT00298753 Phase 4
49 The Use of Tolvaptan to Prevent Renal Dysfunction in High Risk Patients With Heart Failure-Pilot Study Withdrawn NCT01663662 Phase 4
50 Vasopressin Versus Norepinephrine for the Management of Shock After Cardiac Surgery Unknown status NCT01505231 Phase 3

Search NIH Clinical Center for Diabetes Insipidus, Neurohypophyseal

Cochrane evidence based reviews: diabetes insipidus, neurogenic

Genetic Tests for Diabetes Insipidus, Neurohypophyseal

Genetic tests related to Diabetes Insipidus, Neurohypophyseal:

id Genetic test Affiliating Genes
1 Neurohypophyseal Diabetes Insipidus 29 24 AVP
2 Diabetes Insipidus, Neurohypophyseal Type 29

Anatomical Context for Diabetes Insipidus, Neurohypophyseal

MalaCards organs/tissues related to Diabetes Insipidus, Neurohypophyseal:

39
Pituitary, Kidney, Brain

Publications for Diabetes Insipidus, Neurohypophyseal

Articles related to Diabetes Insipidus, Neurohypophyseal:

id Title Authors Year
1
Gene symbol: AVP. Disease: Diabetes Insipidus, neurohypophyseal. ( 20960625 )
2008
2
Gene symbol: AVP. Disease: Diabetes insipidus, neurohypophyseal. Accession #Hm0558. ( 17297714 )
2006
3
Gene symbol: AVP. Disease: Diabetes insipidus, neurohypophyseal. Accession #Hm0560. ( 17297716 )
2006
4
Gene symbol: AVP. Disease: Diabetes insipidus, neurohypophyseal. Accession #Hm0559. ( 17297715 )
2006
5
Gene symbol: AVP. Disease: Diabetes insipidus, neurohypophyseal. Accession #Hm0561. ( 17297717 )
2006

Variations for Diabetes Insipidus, Neurohypophyseal

UniProtKB/Swiss-Prot genetic disease variations for Diabetes Insipidus, Neurohypophyseal:

66 (show all 39)
id Symbol AA change Variation ID SNP ID
1 AVP p.Ser17Phe VAR_004980
2 AVP p.Ala19Thr VAR_004981 rs387906511
3 AVP p.Ala19Val VAR_004982 rs387906512
4 AVP p.Gly45Arg VAR_004983
5 AVP p.Gly48Val VAR_004984 rs121964883
6 AVP p.Arg51Cys VAR_004985
7 AVP p.Pro55Leu VAR_004986
8 AVP p.Glu78Gly VAR_004988
9 AVP p.Leu81Pro VAR_004989
10 AVP p.Gly88Arg VAR_004990
11 AVP p.Gly88Ser VAR_004991 rs121964882
12 AVP p.Cys92Ser VAR_004992
13 AVP p.Gly93Trp VAR_004993 rs121964885
14 AVP p.Gly96Cys VAR_004994
15 AVP p.Tyr21His VAR_015262 rs121964893
16 AVP p.Pro26Leu VAR_015263 rs142886338
17 AVP p.Cys52Arg VAR_015264
18 AVP p.Gly54Arg VAR_015265 rs121964888
19 AVP p.Gly54Val VAR_015266 rs121964887
20 AVP p.Cys59Arg VAR_015267
21 AVP p.Cys59Tyr VAR_015268
22 AVP p.Ser87Phe VAR_015269 rs121964890
23 AVP p.Cys92Tyr VAR_015270 rs121964891
24 AVP p.Gly96Val VAR_015271 rs121964886
25 AVP p.Arg97Cys VAR_015272
26 AVP p.Arg97Pro VAR_015273
27 AVP p.Cys98Gly VAR_015274
28 AVP p.Cys104Phe VAR_015275
29 AVP p.Cys105Arg VAR_015276
30 AVP p.Cys116Gly VAR_015277 rs74315383
31 AVP p.Cys116Arg VAR_015278
32 AVP p.Cys105Tyr VAR_015279
33 AVP p.Val67Ala VAR_019273 rs28934878
34 AVP p.Gly96Asp VAR_019274
35 AVP p.Cys104Gly VAR_019275
36 AVP p.Cys116Trp VAR_019276
37 AVP p.Cys58Phe VAR_029997
38 AVP p.Cys98Ser VAR_029998
39 AVP p.Ala99Pro VAR_029999

ClinVar genetic disease variations for Diabetes Insipidus, Neurohypophyseal:

6 (show all 19)
id Gene Variation Type Significance SNP ID Assembly Location
1 AVP NM_000490.4(AVP): c.262G> A (p.Gly88Ser) single nucleotide variant Pathogenic rs121964882 GRCh37 Chromosome 20, 3063683: 3063683
2 AVP NM_000490.4(AVP): c.143G> T (p.Gly48Val) single nucleotide variant Pathogenic rs121964883 GRCh37 Chromosome 20, 3063802: 3063802
3 AVP NM_000490.4(AVP): c.55G> A (p.Ala19Thr) single nucleotide variant Pathogenic rs387906511 GRCh37 Chromosome 20, 3065266: 3065266
4 AVP AVP, 3-BP DEL, NT1824 deletion Pathogenic
5 AVP NM_000490.4(AVP): c.294C> A (p.Cys98Ter) single nucleotide variant Pathogenic rs121964884 GRCh37 Chromosome 20, 3063651: 3063651
6 AVP NM_000490.4(AVP): c.277G> T (p.Gly93Trp) single nucleotide variant Pathogenic rs121964885 GRCh37 Chromosome 20, 3063668: 3063668
7 AVP AVP, 1-BP DEL, 227G deletion Pathogenic
8 AVP NM_000490.4(AVP): c.287G> T (p.Gly96Val) single nucleotide variant Pathogenic rs121964886 GRCh37 Chromosome 20, 3063658: 3063658
9 AVP NM_000490.4(AVP): c.56C> T (p.Ala19Val) single nucleotide variant Pathogenic rs387906512 GRCh37 Chromosome 20, 3065265: 3065265
10 AVP NM_000490.4(AVP): c.161G> T (p.Gly54Val) single nucleotide variant Pathogenic rs121964887 GRCh37 Chromosome 20, 3063784: 3063784
11 AVP NM_000490.4(AVP): c.160G> C (p.Gly54Arg) single nucleotide variant Pathogenic rs121964888 GRCh37 Chromosome 20, 3063785: 3063785
12 AVP NM_000490.4(AVP): c.337G> T (p.Glu113Ter) single nucleotide variant Pathogenic rs121964889 GRCh37 Chromosome 20, 3063434: 3063434
13 AVP NM_000490.4(AVP): c.260C> T (p.Ser87Phe) single nucleotide variant Pathogenic rs121964890 GRCh37 Chromosome 20, 3063685: 3063685
14 AVP NM_000490.4(AVP): c.275G> A (p.Cys92Tyr) single nucleotide variant Pathogenic rs121964891 GRCh37 Chromosome 20, 3063670: 3063670
15 AVP NM_000490.4(AVP): c.200T> C (p.Val67Ala) single nucleotide variant Pathogenic rs28934878 GRCh37 Chromosome 20, 3063745: 3063745
16 AVP NM_000490.4(AVP): c.346T> G (p.Cys116Gly) single nucleotide variant Pathogenic rs74315383 GRCh37 Chromosome 20, 3063425: 3063425
17 AVP NM_000490.4(AVP): c.61T> C (p.Tyr21His) single nucleotide variant Pathogenic rs121964893 GRCh37 Chromosome 20, 3065260: 3065260
18 AVP AVP, 3-BP DEL, PHE3DEL deletion Pathogenic
19 AVP NM_000490.4(AVP): c.131G> T (p.Cys44Phe) single nucleotide variant Likely pathogenic rs1057516192 GRCh38 Chromosome 20, 3083168: 3083168

Expression for Diabetes Insipidus, Neurohypophyseal

Search GEO for disease gene expression data for Diabetes Insipidus, Neurohypophyseal.

Pathways for Diabetes Insipidus, Neurohypophyseal

GO Terms for Diabetes Insipidus, Neurohypophyseal

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

id Name GO ID Score Top Affiliating Genes
1 clathrin-coated vesicle membrane GO:0030665 8.96 AVP AVPR2
2 secretory granule GO:0030141 8.8 AVP POMC PRL

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

(show all 16)
id Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.95 AVP AVPR2 GNRH1 LNPEP POMC
2 membrane organization GO:0061024 9.63 AVP AVPR2 LNPEP
3 response to organic cyclic compound GO:0014070 9.58 AVP GNRH1 PRL
4 regulation of blood pressure GO:0008217 9.56 LNPEP POMC
5 cellular response to hormone stimulus GO:0032870 9.54 AVPR2 PRL
6 response to ethanol GO:0045471 9.54 AVP GNRH1 PRL
7 generation of precursor metabolites and energy GO:0006091 9.52 AVP POMC
8 excretion GO:0007588 9.51 AQP2 AVPR2
9 response to testosterone GO:0033574 9.49 AVP GNRH1
10 positive regulation of vasoconstriction GO:0045907 9.48 AVP AVPR2
11 water transport GO:0006833 9.43 AQP2 AVP
12 female pregnancy GO:0007565 9.43 GNRH1 LNPEP PRL
13 ovulation cycle GO:0042698 9.32 GNRH1 PRL
14 cell-cell signaling GO:0007267 9.26 AVP GNRH1 LNPEP POMC
15 positive regulation of systemic arterial blood pressure GO:0003084 9.16 AVP AVPR2
16 renal water homeostasis GO:0003091 8.8 AQP2 AVP AVPR2

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

id Name GO ID Score Top Affiliating Genes
1 peptide binding GO:0042277 8.96 AVPR2 LNPEP
2 hormone activity GO:0005179 8.92 AVP GNRH1 POMC PRL

Sources for Diabetes Insipidus, Neurohypophyseal

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....