MCID: DBT087
MIFTS: 62

Diabetes Insipidus, Neurohypophyseal

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

Aliases & Classifications for Diabetes Insipidus, Neurohypophyseal

MalaCards integrated aliases for Diabetes Insipidus, Neurohypophyseal:

Name: Diabetes Insipidus, Neurohypophyseal 53 24 71 13
Central Diabetes Insipidus 12 72 49 24 55 51 69
Neurohypophyseal Diabetes Insipidus 12 49 24 36 28 14
Cdi 53 55 71 3
Neurogenic Diabetes Insipidus 49 55 71
Pituitary Diabetes Insipidus 12 49 24
Diabetes Insipidus, Neurohypophyseal Type 53 28
Vasopressin Defective Diabetes Insipidus 12 24
Diabetes Insipidus Cranial Type 49 71
Diabetes Insipidus, Neurogenic 24 41
Vasopressin Deficiency 12 24
Diabetes Insipidus Secondary to Vasopressin Deficiency 24
Diabetes Insipidus, Primary Central; Cdi 53
Diabetes Insipidus, Primary Central 53
Diabetes Insipidus Neurohypophyseal 49
Primary Central Diabetes Insipidus 71
Diabetes Insipidus, Cranial Type 53
Diabetes Insipidus Neurogenic 49
Diabetes Insipidus, Pituitary 24
Diabetes Insipidus, Central 24
Ndi 71

Characteristics:

Orphanet epidemiological data:

55
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;

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
diabetes insipidus, neurohypophyseal:
Inheritance autosomal dominant inheritance

diabetes insipidus, neurohypophyseal type:
Inheritance x-linked dominant inheritance


Classifications:

Orphanet: 55  
Rare endocrine diseases


Summaries for Diabetes Insipidus, Neurohypophyseal

NIH Rare Diseases : 49 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 diabetes insipidus, nephrogenic, x-linked and diabetes insipidus, nephrogenic, autosomal, 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 Neuroscience. The drugs Arginine Vasopressin and Coagulants have been mentioned in the context of this disorder. Affiliated tissues include pituitary, brain and kidney, and related phenotypes are Downregulation of Wnt pathway after Wnt3A stimulation and behavior/neurological

OMIM : 53 Neurohypophyseal diabetes insipidus is an autosomal dominant disorder of free water conservation characterized by childhood onset of polyuria and polydipsia. Affected individuals are apparently normal at birth, but characteristically develop symptoms of vasopression deficiency during childhood (summary by Wahlstrom et al., 2004). (125700)

UniProtKB/Swiss-Prot : 71 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 : 24 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.

Wikipedia : 72 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 75)
# Related Disease Score Top Affiliating Genes
1 diabetes insipidus, nephrogenic, x-linked 32.2 AQP2 AVPR2
2 diabetes insipidus, nephrogenic, autosomal 31.8 AQP2 AVP AVPR2 LNPEP
3 wolfram syndrome 29.4 AVP WFS1
4 diabetes insipidus 29.2 AQP2 AVP AVPR2 POMC PRL WFS1
5 hereditary central diabetes insipidus 12.3
6 acquired central diabetes insipidus 12.3
7 hypopituitarism, congenital, with central diabetes insipidus 12.2
8 nephrogenic syndrome of inappropriate antidiuresis 10.4 AVP AVPR2
9 bronchus cancer 10.4 AVP AVPR2
10 seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance 10.4 AQP2 AVP
11 peripheral vertigo 10.4 AQP2 AVP
12 vestibular disease 10.4 AQP2 AVP
13 central nervous system germinoma 10.3 AVP POMC
14 tuberculous epididymitis 10.3 AVP POMC
15 central nervous system germ cell tumor 10.3 AVP POMC
16 secondary hypertrophic osteoarthropathy 10.3 AVP POMC
17 brain germinoma 10.3 AVP PRL
18 cervix small cell carcinoma 10.3 AVP POMC
19 tuberculous empyema 10.3 AVPR2 POMC
20 adenohypophysitis 10.3 POMC PRL
21 sella turcica neoplasm 10.3 POMC PRL
22 tuberculum sellae meningioma 10.3 POMC PRL
23 wolfram syndrome 1 10.2 AVP WFS1
24 nelson syndrome 10.2 POMC PRL
25 sheehan syndrome 10.2 POMC PRL
26 hyperpituitarism 10.2 POMC PRL
27 hypothyroidism, congenital, nongoitrous, 4 10.2 POMC PRL
28 acth-secreting pituitary adenoma 10.2 POMC PRL
29 pancreas disease 10.2 AVP POMC
30 ectopic cushing syndrome 10.2 AVPR2 POMC
31 functioning pituitary adenoma 10.2 POMC PRL
32 adrenal cortex disease 10.2 POMC PRL
33 adrenal gland disease 10.2 POMC PRL
34 endocrine organ benign neoplasm 10.2 POMC PRL
35 pituitary tumors 10.2 POMC PRL
36 impaired renal function disease 10.2 AQP2 AVP AVPR2
37 gynecomastia 10.2 POMC PRL
38 endometriosis of uterus 10.1 GNRH1 PRL
39 adrenal gland hyperfunction 10.1 POMC PRL
40 autosomal dominant polycystic kidney disease 10.1 AQP2 AVP AVPR2
41 hypogonadotropism 10.1 GNRH1 PRL
42 acth-independent macronodular adrenal hyperplasia 10.1 AVPR2 GNRH1
43 thyroid gland disease 10.1 POMC PRL
44 hypokalemia 10.1 AQP2 POMC
45 organ system benign neoplasm 10.1 POMC PRL
46 urinary system disease 10.1 AQP2 AVP POMC
47 central nervous system organ benign neoplasm 10.1 AVP POMC PRL
48 pituitary hormone deficiency, combined, 2 10.0 AVP POMC PRL
49 anovulation 10.0 GNRH1 PRL
50 adrenal rest tumor 10.0 GNRH1 POMC

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 via clinical synopsis from OMIM:

53
Facies:
hypertelorism
long philtrum
broad and short nose

Radiology:
decreased bone mineral density (bmd)

Endocrine:
neurohypophyseal diabetes insipidus

Lab:
arginine vasopressin deficiency
partial deficiency of oxytocin (ot) and its carrier protein, estrogen-stimulated neurophysin (esn)
decreased nerve cells of the supraoptic and paraventricular nuclei of the hypothalamus with associated mild gliosis
low serum osteocalcin


Clinical features from OMIM:

125700 304900

Human phenotypes related to Diabetes Insipidus, Neurohypophyseal:

55 31 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fever 55 31 frequent (33%) Frequent (79-30%) HP:0001945
2 headache 55 31 frequent (33%) Frequent (79-30%) HP:0002315
3 seizures 55 31 occasional (7.5%) Occasional (29-5%) HP:0001250
4 diarrhea 55 31 occasional (7.5%) Occasional (29-5%) HP:0002014
5 nausea and vomiting 55 31 occasional (7.5%) Occasional (29-5%) HP:0002017
6 lethargy 55 31 frequent (33%) Frequent (79-30%) HP:0001254
7 excessive daytime somnolence 55 31 frequent (33%) Frequent (79-30%) HP:0001262
8 polydipsia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001959
9 failure to thrive 55 31 hallmark (90%) Very frequent (99-80%) HP:0001508
10 dehydration 55 31 hallmark (90%) Very frequent (99-80%) HP:0001944
11 weight loss 55 31 hallmark (90%) Very frequent (99-80%) HP:0001824
12 anxiety 55 31 frequent (33%) Frequent (79-30%) HP:0000739
13 anorexia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002039
14 diabetes insipidus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000873
15 hyponatremia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002902
16 nocturia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000017
17 polyuria 31 HP:0000103
18 hypertelorism 31 HP:0000316
19 depression 55 Frequent (79-30%)
20 osteopenia 31 HP:0000938
21 short nose 31 HP:0003196
22 hypokalemia 31 HP:0002900
23 abnormality of metabolism/homeostasis 31 HP:0001939
24 long philtrum 31 HP:0000343
25 hydronephrosis 31 HP:0000126
26 wide nose 31 HP:0000445
27 gliosis 31 HP:0002171
28 central diabetes insipidus 31 HP:0000863
29 depressivity 31 frequent (33%) HP:0000716
30 alkalosis 31 HP:0001948

UMLS symptoms related to Diabetes Insipidus, Neurohypophyseal:


polydipsia, polyuria

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Downregulation of Wnt pathway after Wnt3A stimulation GR00057-A-2 8.8 AQP2 POMC RPH3A

MGI Mouse Phenotypes related to Diabetes Insipidus, Neurohypophyseal:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.8 LNPEP POMC PRL WFS1 AQP2 AVP
2 homeostasis/metabolism MP:0005376 9.76 POMC PRL WFS1 AQP2 AVP AVPR2
3 integument MP:0010771 9.43 POMC PRL WFS1 AQP2 AVPR2 GNRH1
4 renal/urinary system MP:0005367 9.02 POMC AQP2 AVP AVPR2 GNRH1

Drugs & Therapeutics for Diabetes Insipidus, Neurohypophyseal

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

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Arginine Vasopressin Phase 3
2 Coagulants Phase 3
3 Deamino Arginine Vasopressin Phase 3
4 Hemostatics Phase 3
5 Natriuretic Agents Phase 3
6 Vasopressins Phase 3
7 arginine Nutraceutical Phase 3
8
Chlorpropamide Approved, Investigational 94-20-2 2727
9 Vasoconstrictor Agents
10 Hypoglycemic Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Study of Minirin Melt in Japanese Patients With Central Diabetes Insipidus (CDI). Completed NCT01280188 Phase 3 Desmopressin Oral Melt;Desmopressin intranasal
2 Vasopressin Deficiency in Hemorrhagic Shock Completed NCT01107314
3 Study of the Pathogenesis and Pathophysiology of Familial Neurohypophyseal Diabetes Insipidus Completed NCT00004363 chlorpropamide;desmopressin
4 Copeptin During a Standardized Psychological Stress Test Completed NCT01866137
5 Seoul National University Pituitary Disease Cohort Study Recruiting NCT03474601
6 Evaluation of Plasma Volume Using Ultrasound in Disorders of Fluid With Sodium Active, not recruiting NCT01547650

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:

# Genetic test Affiliating Genes
1 Neurohypophyseal Diabetes Insipidus 28 AVP
2 Diabetes Insipidus, Neurohypophyseal Type 28

Anatomical Context for Diabetes Insipidus, Neurohypophyseal

MalaCards organs/tissues related to Diabetes Insipidus, Neurohypophyseal:

38
Pituitary, Brain, Kidney, Bone, Testes, Hypothalamus

Publications for Diabetes Insipidus, Neurohypophyseal

Articles related to Diabetes Insipidus, Neurohypophyseal:

(show top 50) (show all 222)
# Title Authors Year
1
Anti-PD-L1 Treatment Induced Central Diabetes Insipidus. ( 29220526 )
2018
2
Relation between change in treatment for central diabetes insipidus and body weight loss. ( 29424204 )
2018
3
Oral administration of diluted nasal desmopressin in managing neonatal central diabetes insipidus. ( 28599389 )
2017
4
Transient Central Diabetes Insipidus and Marked Hypernatremia following Cardiorespiratory Arrest. ( 28758038 )
2017
5
Mice deficient for ERAD machinery component Sel1L develop central diabetes insipidus. ( 28920918 )
2017
6
A case of gestational central diabetes insipidus with oligohydramnios. ( 28764595 )
2017
7
Two Cases of Central Diabetes Insipidus in Refractory Antineutrophil Cytoplasmic Antibody-associated Vasculitis. ( 28943556 )
2017
8
Central Diabetes Insipidus and Hyperglycemic Hyperosmolar State Following Accidental Carbon Monoxide Poisoning. ( 28690939 )
2017
9
Opioid-induced hyponatremia in a patient with central diabetes insipidus: independence from ADH. ( 28593907 )
2017
10
Unusual Presentation of Central Diabetes Insipidus in a Patient With Neurosarcoidosis. ( 27652275 )
2016
11
Animal models of Central Diabetes Insipidus: Human relevance of acquired beyond hereditary syndromes and the role of oxytocin. ( 27118135 )
2016
12
Prevalence and risk factors for central diabetes insipidus in cardiac arrest survivor treated with targeted temperature management. ( 27133533 )
2016
13
Predictor Variables of Developing Anterior Pituitary Deficiencies in a Group of Paediatric Patients with Central Diabetes Insipidus and Langerhans Cell Histiocytosis. ( 27951529 )
2016
14
Pituitary Morphology and Function in 43 Children with Central Diabetes Insipidus. ( 27118970 )
2016
15
Central Diabetes Insipidus and Cisplatin-Induced Renal Salt Wasting Syndrome: A Challenging Combination. ( 26928867 )
2016
16
Central diabetes insipidus as a very late relapse limited to the pituitary stalk in Langerhans cell histiocytosis. ( 27089406 )
2016
17
A case of central diabetes insipidus. ( 27728176 )
2016
18
A case of central diabetes insipidus associated with cardiac dysfunction. ( 27980741 )
2016
19
INCIDENCE OF CENTRAL DIABETES INSIPIDUS IN CHILDREN PRESENTING WITH POLYDIPSIA AND POLYURIA. ( 27540876 )
2016
20
Central diabetes insipidus: clinical profile that suggests organicity in Peruvian children: Lima - Peru 2001-2013. ( 27845884 )
2016
21
Central diabetes insipidus. ( 28008190 )
2016
22
Enteroviral Meningoencephalitis Complicated by Central Diabetes Insipidus in a Neonate: A Case Report and Review of the Literature. ( 26407416 )
2015
23
Hypothalamic Type of Hypopituitarism and Central Diabetes Insipidus Probably Linked to Rathke's Cleft Cyst. ( 25876576 )
2015
24
Early-onset central diabetes insipidus is associated with de novo arginine vasopressin-neurophysin II or Wolfram syndrome 1 gene mutations. ( 25740874 )
2015
25
Central diabetes insipidus, central hypothyroidism, renal tubular acidosis and dandy-walker syndrome: new associations. ( 25861538 )
2015
26
Diagnosis and Management of Combined Central Diabetes Insipidus and Cerebral Salt Wasting Syndrome following Traumatic Brain Injury. ( 26485413 )
2015
27
Pulmonary Langerhans Cell Histiocytosis in an Adult Male Presenting with Central Diabetes Insipidus and Diabetes Mellitus: A Case Report. ( 26508947 )
2015
28
Central diabetes insipidus following cardiopulmonary arrest in a dog. ( 26473756 )
2015
29
Neurosarcoidosis-associated central diabetes insipidus masked by adrenal insufficiency. ( 25612752 )
2015
30
Demyelination syndrome due to rapid correction of desmopressin-associated hyponatremia in a known case of central diabetes insipidus: a case report. ( 25777520 )
2015
31
Early-Onset Central Diabetes Insipidus due to Compound Heterozygosity for AVP Mutations. ( 26565711 )
2015
32
Congenital toxoplasmosis presenting as central diabetes insipidus in an infant: a case report. ( 24674575 )
2014
33
Transient central diabetes insipidus induced by ketamine infusion. ( 25225198 )
2014
34
Comparison of incidence of hyponatremia between intranasal and oral desmopressin in patients with central diabetes insipidus. ( 25382102 )
2014
35
Central diabetes insipidus revealing neuromeningeal localization of chronic myelomonocytic leukaemia. ( 24116391 )
2014
36
Granulomatosis with polyangiitis preceded by central diabetes insipidus. ( 25088898 )
2014
37
Desmopressin lyophilisate for the treatment of central diabetes insipidus: first experience in very young infants. ( 25745483 )
2014
38
The prevalence of IgG4-related hypophysitis in 170 consecutive patients with hypopituitarism and/or central diabetes insipidus and review of the literature. ( 24165017 )
2014
39
Nephrotic syndrome complicated by idiopathic central diabetes insipidus. ( 24408226 )
2014
40
Central diabetes insipidus: alert for dehydration in very low birth weight infants during the neonatal period. A case report. ( 25271879 )
2014
41
Hypoparathyroidism and central diabetes insipidus: in search of the link. ( 25367057 )
2014
42
Congenital central diabetes insipidus and optic atrophy in a Wolfram newborn: is there a role for WFS1 gene in neurodevelopment? ( 25255707 )
2014
43
Adult multisystem langerhans cell histiocytosis presenting with central diabetes insipidus successfully treated with chemotherapy. ( 25309800 )
2014
44
Xanthogranuloma as a Unsuspected Cause of Idiopathic Central Diabetes Insipidus. ( 24246337 )
2013
45
Transient central diabetes insipidus following ischemic stroke. ( 24251140 )
2013
46
Central Diabetes Insipidus in Children and Young Adults: Etiological Diagnosis and Long - Term Outcome of Idiopathic Cases. ( 24276447 )
2013
47
Central diabetes insipidus: a previously unreported side effect of temozolomide. ( 23928668 )
2013
48
Head trauma as a possible cause of central diabetes insipidus in a cat. ( 23064994 )
2013
49
Evaluation of patients with intracranial tumors and central diabetes insipidus. ( 23988090 )
2013
50
Central diabetes insipidus: an unusual complication in a child with juvenile myelomonocytic leukemia and monosomy 7. ( 22858568 )
2013

Variations for Diabetes Insipidus, Neurohypophyseal

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

71 (show all 39)
# 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)
# 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:

# Name GO ID Score Top Affiliating Genes
1 clathrin-coated vesicle membrane GO:0030665 8.62 AVP AVPR2

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

# Name GO ID Score Top Affiliating Genes
1 regulation of receptor activity GO:0010469 9.62 AVP GNRH1 POMC PRL
2 positive regulation of protein ubiquitination GO:0031398 9.46 AVPR2 WFS1
3 generation of precursor metabolites and energy GO:0006091 9.43 AVP POMC
4 membrane organization GO:0061024 9.43 AVP AVPR2 LNPEP
5 excretion GO:0007588 9.4 AQP2 AVPR2
6 water transport GO:0006833 9.37 AQP2 AVP
7 female pregnancy GO:0007565 9.33 GNRH1 LNPEP PRL
8 cell-cell signaling GO:0007267 9.26 AVP GNRH1 LNPEP POMC
9 renal water homeostasis GO:0003091 8.92 AQP2 AVP AVPR2 WFS1

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

# Name GO ID Score Top Affiliating Genes
1 peptide binding GO:0042277 9.16 AVPR2 LNPEP
2 neuropeptide hormone activity GO:0005184 8.96 AVP POMC
3 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....