NDI
MCID: DBT087
MIFTS: 62

Diabetes Insipidus, Neurohypophyseal (NDI)

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

Aliases & Classifications for Diabetes Insipidus, Neurohypophyseal

MalaCards integrated aliases for Diabetes Insipidus, Neurohypophyseal:

Name: Diabetes Insipidus, Neurohypophyseal 58 26 76 13 41
Neurohypophyseal Diabetes Insipidus 12 54 26 38 30 6 15
Central Diabetes Insipidus 12 77 54 26 60 56 74
Cdi 58 60 76 3
Neurogenic Diabetes Insipidus 54 60 76
Pituitary Diabetes Insipidus 12 54 26
Diabetes Insipidus, Neurohypophyseal Type 58 30
Vasopressin Defective Diabetes Insipidus 12 26
Diabetes Insipidus Cranial Type 54 76
Diabetes Insipidus, Neurogenic 26 45
Vasopressin Deficiency 12 26
Diabetes Insipidus Secondary to Vasopressin Deficiency 26
Diabetes Insipidus, Primary Central; Cdi 58
Diabetes Insipidus, Primary Central 58
Diabetes Insipidus Neurohypophyseal 54
Primary Central Diabetes Insipidus 76
Diabetes Insipidus, Cranial Type 58
Diabetes Insipidus Neurogenic 54
Diabetes Insipidus, Pituitary 26
Diabetes Insipidus, Central 26
Ndi 76

Characteristics:

Orphanet epidemiological data:

60
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:

58
Inheritance:
autosomal dominant


HPO:

33
diabetes insipidus, neurohypophyseal type:
Inheritance x-linked inheritance x-linked dominant inheritance

diabetes insipidus, neurohypophyseal:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare endocrine diseases


Summaries for Diabetes Insipidus, Neurohypophyseal

NIH Rare Diseases : 54 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.

MalaCards based summary : Diabetes Insipidus, Neurohypophyseal, also known as neurohypophyseal diabetes insipidus, is related to diabetes insipidus, nephrogenic, x-linked and diabetes insipidus, nephrogenic, autosomal, and has symptoms including polydipsia and polyuria. 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 Deamino Arginine Vasopressin and Coagulants have been mentioned in the context of this disorder. Affiliated tissues include pituitary, brain and kidney, and related phenotypes are failure to thrive and dehydration

Genetics Home Reference : 26 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 : 58 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)

CDC : 3 The chronic disease indicators (CDI) are a set of surveillance indicators developed by consensus among CDC, the Council of State and Territorial Epidemiologists (CSTE), and the National Association of Chronic Disease Directors (NACDD). CDI enables public health professionals and policymakers to retrieve uniformly defined state and selected metropolitan-level data for chronic diseases and risk factors that have a substantial impact on public health. These indicators are essential for surveillance, prioritization, and evaluation of public health interventions. More

UniProtKB/Swiss-Prot : 76 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.

Wikipedia : 77 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 195)
# Related Disease Score Top Affiliating Genes
1 diabetes insipidus, nephrogenic, x-linked 33.2 AVPR2 AQP2
2 diabetes insipidus, nephrogenic, autosomal 32.0 LNPEP AVPR2 AVP AQP2
3 hypopituitarism 30.4 PRL POMC GNRH1
4 wolfram syndrome 30.3 WFS1 AVP
5 wolfram syndrome 1 30.1 WFS1 AVP
6 craniopharyngioma 29.9 PRL GNRH1
7 pituitary apoplexy 29.8 PRL POMC GNRH1
8 anovulation 29.8 PRL GNRH1
9 sheehan syndrome 29.7 PRL POMC LNPEP
10 diabetes insipidus 29.7 WFS1 PRL POMC AVPR2 AVP AQP2
11 amenorrhea 29.6 PRL POMC GNRH1
12 hereditary central diabetes insipidus 12.5
13 acquired central diabetes insipidus 12.5
14 hypopituitarism, congenital, with central diabetes insipidus 12.3
15 langerhans cell histiocytosis 10.5
16 leukemia 10.5
17 histiocytosis 10.5
18 diabetes mellitus 10.3
19 myeloid leukemia 10.3
20 nephrogenic syndrome of inappropriate antidiuresis 10.3 AVPR2 AVP
21 leukemia, acute myeloid 10.3
22 peripheral vertigo 10.3 AVP AQP2
23 germinoma 10.3
24 lymphocytic hypophysitis 10.3
25 vestibular disease 10.3 AVP AQP2
26 central nervous system germinoma 10.3 POMC AVP
27 tuberculous epididymitis 10.3 POMC AVP
28 central nervous system germ cell tumor 10.2 POMC AVP
29 lung oat cell carcinoma 10.2 POMC AVP
30 bronchus cancer 10.2 POMC AVP
31 olfactory nerve neoplasm 10.2 POMC AVP
32 gestational diabetes insipidus 10.2 LNPEP AVP
33 secondary hypertrophic osteoarthropathy 10.2 POMC AVP
34 congenital toxoplasmosis 10.2
35 neurosarcoidosis 10.2
36 toxoplasmosis 10.2
37 tuberculous empyema 10.2 POMC AVPR2
38 seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance 10.2 AVP AQP2
39 adenohypophysitis 10.2 PRL POMC
40 cervix small cell carcinoma 10.2 POMC AVP
41 cranial nerve malignant neoplasm 10.2 POMC AVP
42 pituitary carcinoma 10.2 PRL POMC
43 tuberculum sellae meningioma 10.2 PRL POMC
44 sella turcica neoplasm 10.2 PRL POMC
45 nelson syndrome 10.2 PRL POMC
46 brain injury 10.2
47 traumatic brain injury 10.2
48 lymphoma 10.2
49 hypothyroidism 10.2
50 meningitis 10.2

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



Diseases related to Diabetes Insipidus, Neurohypophyseal

Symptoms & Phenotypes for Diabetes Insipidus, Neurohypophyseal

Human phenotypes related to Diabetes Insipidus, Neurohypophyseal:

60 33 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 60 33 hallmark (90%) Very frequent (99-80%) HP:0001508
2 dehydration 60 33 hallmark (90%) Very frequent (99-80%) HP:0001944
3 polydipsia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001959
4 weight loss 60 33 hallmark (90%) Very frequent (99-80%) HP:0001824
5 anorexia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002039
6 diabetes insipidus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000873
7 nocturia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000017
8 depressivity 60 33 frequent (33%) Frequent (79-30%) HP:0000716
9 fever 60 33 frequent (33%) Frequent (79-30%) HP:0001945
10 anxiety 60 33 frequent (33%) Frequent (79-30%) HP:0000739
11 lethargy 60 33 frequent (33%) Frequent (79-30%) HP:0001254
12 headache 60 33 frequent (33%) Frequent (79-30%) HP:0002315
13 excessive daytime somnolence 60 33 frequent (33%) Frequent (79-30%) HP:0001262
14 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
15 nausea and vomiting 60 33 occasional (7.5%) Occasional (29-5%) HP:0002017
16 hyponatremia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002902
17 diarrhea 60 33 occasional (7.5%) Occasional (29-5%) HP:0002014
18 hypertelorism 33 HP:0000316
19 osteopenia 33 HP:0000938
20 short nose 33 HP:0003196
21 hypokalemia 33 HP:0002900
22 abnormality of metabolism/homeostasis 33 HP:0001939
23 long philtrum 33 HP:0000343
24 hydronephrosis 33 HP:0000126
25 wide nose 33 HP:0000445
26 gliosis 33 HP:0002171
27 central diabetes insipidus 33 HP:0000863
28 polyuria 33 HP:0000103
29 alkalosis 33 HP:0001948

Symptoms via clinical synopsis from OMIM:

58
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

UMLS symptoms related to Diabetes Insipidus, Neurohypophyseal:


polydipsia, polyuria

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

27
# 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:

47
# 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 9.43 AQP2 AVPR2 GNRH1 POMC PRL WFS1
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 all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Deamino Arginine Vasopressin Phase 3,Not Applicable
2 Coagulants Phase 3,Not Applicable
3 Natriuretic Agents Phase 3,Not Applicable
4 Vasopressins Phase 3,Not Applicable
5 arginine Phase 3,Not Applicable
6 Arginine Vasopressin Phase 3,Not Applicable
7 Hemostatics Phase 3,Not Applicable
8
Chlorpropamide Approved, Investigational 94-20-2 2727
9 Vasoconstrictor Agents ,Not Applicable
10 Hypoglycemic Agents
11 Hormones
12 Hormones, Hormone Substitutes, and Hormone Antagonists
13 Hormone Antagonists

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 Use of Copeptin Measurement After Arginine Infusion for the Differential Diagnosis of Diabetes Insipidus - the CARGOx Study Recruiting NCT03572166 Not Applicable
5 Seoul National University Pituitary Disease Cohort Study Recruiting NCT03474601
6 Copeptin During a Standardized Psychological Stress Test Completed NCT01866137
7 Study on Chinese and Western Medicine in MNE Children Not yet recruiting NCT03733873 Not Applicable Desmopressin;Suoquan
8 Evaluation of Plasma Volume Using Ultrasound in Disorders of Fluid With Sodium Active, not recruiting NCT01547650
9 Copeptin in the Differential Diagnosis of Dysnatremia in Hospitalized Patients Completed NCT01456533

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 30 AVP
2 Diabetes Insipidus, Neurohypophyseal Type 30

Anatomical Context for Diabetes Insipidus, Neurohypophyseal

MalaCards organs/tissues related to Diabetes Insipidus, Neurohypophyseal:

42
Pituitary, Brain, Kidney, Testes, Bone, Hypothalamus

Publications for Diabetes Insipidus, Neurohypophyseal

Articles related to Diabetes Insipidus, Neurohypophyseal:

(show top 50) (show all 79)
# Title Authors Year
1
The Novel Ser18del AVP Variant Causes Inherited Neurohypophyseal Diabetes Insipidus by Mechanisms Shared with Other Signal Peptide Variants. ( 28494452 )
2018
2
A Novel Synonymous Variant in the AVP Gene Associated with Autosomal Dominant Familial Neurohypophyseal Diabetes Insipidus Causes Partial RNA Missplicing. ( 29949799 )
2018
3
Induced pluripotent stem cells derived from a patient with autosomal dominant familial neurohypophyseal diabetes insipidus caused by a variant in the AVP gene. ( 28413003 )
2017
4
Identification of five novel arginine vasopressin gene mutations in patients with familial neurohypophyseal diabetes insipidus. ( 27513365 )
2016
5
A novel AVP gene mutation in a Turkish family with neurohypophyseal diabetes insipidus. ( 26208472 )
2016
6
Two novel mutations in seven Czech and Slovak kindreds with familial neurohypophyseal diabetes insipidus-benefit of genetic testing. ( 27539621 )
2016
7
Genetic forms of neurohypophyseal diabetes insipidus. ( 27156762 )
2016
8
Identification of an AVP-NPII mutation within the AVP moiety in a family with neurohypophyseal diabetes insipidus: review of the literature. ( 26233932 )
2015
9
Type III Bartter-like syndrome in an infant boy with Gitelman syndrome and autosomal dominant familial neurohypophyseal diabetes insipidus. ( 24825090 )
2014
10
Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a mutation in the arginine-vasopressin II gene in four generations of a Korean family. ( 25654069 )
2014
11
Clinical review: Treatment of neurohypophyseal diabetes insipidus. ( 23884783 )
2013
12
Dilatative Uropathy as a Manifestation of Neurohypophyseal Diabetes Insipidus due to a Novel Mutation in the Arginine Vasopressin-Neurophysin-II Gene. ( 24158882 )
2013
13
A novel deletion partly removing the AVP gene causes autosomal recessive inheritance of early-onset neurohypophyseal diabetes insipidus. ( 22168581 )
2013
14
A novel variation in the AVP gene resulting in familial neurohypophyseal diabetes insipidus in a large Italian kindred. ( 22695750 )
2013
15
A missense mutation in the arginine-vasopressin neurophysin-II gene causes autosomal dominant neurohypophyseal diabetes insipidus in a Chinese family. ( 23252994 )
2013
16
Polyuria and polydipsia in a young child: diagnostic considerations and identification of novel mutation causing familial neurohypophyseal diabetes insipidus. ( 20401697 )
2012
17
Clinical and molecular analysis of a Chinese family with autosomal dominant neurohypophyseal diabetes insipidus associated with a novel missense mutation in the vasopressin-neurophysin II gene. ( 22307687 )
2012
18
Late-onset familial neurohypophyseal diabetes insipidus due to a novel mutation in the AVP gene. ( 22524462 )
2012
19
Familial neurohypophyseal diabetes insipidus due to a novel mutation in the arginine vasopressin-neurophysin II gene. ( 21498630 )
2011
20
Growth retardation in untreated autosomal dominant familial neurohypophyseal diabetes insipidus caused by one recurring and two novel mutations in the vasopressin-neurophysin II gene. ( 21088058 )
2011
21
Autosomal recessive familial neurohypophyseal diabetes insipidus: onset in early infancy. ( 19897608 )
2010
22
Autosomal dominant neurohypophyseal diabetes insipidus in two families. Molecular analysis of the vasopressin-neurophysin II gene and functional studies of three missense mutations. ( 19129716 )
2009
23
Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a novel mutation in arginine-vasopressin gene in a Brazilian family. ( 19169480 )
2008
24
[Mutations in the arginine vasopressin neurophysin-II gene in familial neurohypophyseal diabetes insipidus patients]. ( 18807739 )
2008
25
Gene symbol: AVP. Disease: Diabetes Insipidus, neurohypophyseal. ( 20960625 )
2008
26
Mutation of Glu78 of the AVP-NPII gene impairs neurophysin as a carrier protein for arginine vasopressin in a family with neurohypophyseal diabetes insipidus. ( 18316776 )
2008
27
Utility of AVP gene testing in familial neurohypophyseal diabetes insipidus. ( 18494865 )
2008
28
A novel heterozygous missense mutation in the vasopressin moiety is identified in a Japanese person with neurohypophyseal diabetes insipidus. ( 16682840 )
2006
29
Gene symbol: AVP. Disease: Diabetes insipidus, neurohypophyseal. Accession #Hm0560. ( 17297716 )
2006
30
Gene symbol: AVP. Disease: Diabetes insipidus, neurohypophyseal. Accession #Hm0561. ( 17297717 )
2006
31
Familial neurohypophyseal diabetes insipidus--an update. ( 16713494 )
2006
32
Gene symbol: AVP. Disease: Diabetes insipidus, neurohypophyseal. Accession #Hm0559. ( 17297715 )
2006
33
Gene symbol: AVP. Disease: Diabetes insipidus, neurohypophyseal. Accession #Hm0558. ( 17297714 )
2006
34
Autophagy-dependent cell survival and cell death in an autosomal dominant familial neurohypophyseal diabetes insipidus in vitro model. ( 15781608 )
2005
35
Autosomal dominant neurohypophyseal diabetes insipidus with linkage to chromosome 20p13 but without mutations in the AVP-NPII gene. ( 15811933 )
2005
36
Expression of three different mutations in the arginine vasopressin gene suggests genotype-phenotype correlation in familial neurohypophyseal diabetes insipidus kindreds. ( 16060916 )
2005
37
Autophagy is a prosurvival mechanism in cells expressing an autosomal dominant familial neurohypophyseal diabetes insipidus mutant vasopressin transgene. ( 15781609 )
2005
38
A novel splice site mutation of the arginine vasopressin-neurophysin II gene identified in a kindred with autosomal dominant familial neurohypophyseal diabetes insipidus. ( 16006166 )
2005
39
Six novel mutations in the arginine vasopressin gene in 15 kindreds with autosomal dominant familial neurohypophyseal diabetes insipidus give further insight into the pathogenesis. ( 14673472 )
2004
40
Differential cellular handling of defective arginine vasopressin (AVP) prohormones in cells expressing mutations of the AVP gene associated with autosomal dominant and recessive familial neurohypophyseal diabetes insipidus. ( 15356057 )
2004
41
Novel mutant vasopressin-neurophysin II gene associated with familial neurohypophyseal diabetes insipidus. ( 15644573 )
2004
42
Impaired trafficking of mutated AVP prohormone in cells expressing rare disease genes causing autosomal dominant familial neurohypophyseal diabetes insipidus. ( 14678298 )
2004
43
A novel mutation in the preprovasopressin gene identified in a kindred with autosomal dominant neurohypophyseal diabetes insipidus. ( 15070970 )
2004
44
A new missense mutation of the vasopressin-neurophysin II gene in a family with neurohypophyseal diabetes insipidus. ( 12931042 )
2003
45
Autosomal dominant familial neurohypophyseal diabetes insipidus. ( 12874957 )
2003
46
A murine model of autosomal dominant neurohypophyseal diabetes insipidus reveals progressive loss of vasopressin-producing neurons. ( 14660745 )
2003
47
Progressive decline of vasopressin secretion in familial autosomal dominant neurohypophyseal diabetes insipidus presenting a novel mutation in the vasopressin-neurophysin II gene. ( 14510916 )
2003
48
Effects of aging on vasopressin production in a kindred with autosomal dominant neurohypophyseal diabetes insipidus due to the DeltaE47 neurophysin mutation. ( 11836335 )
2002
49
Autosomal dominant neurohypophyseal diabetes insipidus due to substitution of histidine for tyrosine-2 in the vasopressin moiety of the hormone precursor. ( 12107248 )
2002
50
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. ( 11980620 )
2002

Variations for Diabetes Insipidus, Neurohypophyseal

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

76 (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 35)
# 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.262G> A (p.Gly88Ser) single nucleotide variant Pathogenic rs121964882 GRCh38 Chromosome 20, 3083037: 3083037
3 AVP NM_000490.4(AVP): c.143G> T (p.Gly48Val) single nucleotide variant Pathogenic rs121964883 GRCh37 Chromosome 20, 3063802: 3063802
4 AVP NM_000490.4(AVP): c.143G> T (p.Gly48Val) single nucleotide variant Pathogenic rs121964883 GRCh38 Chromosome 20, 3083156: 3083156
5 AVP NM_000490.4(AVP): c.55G> A (p.Ala19Thr) single nucleotide variant Pathogenic rs387906511 GRCh37 Chromosome 20, 3065266: 3065266
6 AVP NM_000490.4(AVP): c.55G> A (p.Ala19Thr) single nucleotide variant Pathogenic rs387906511 GRCh38 Chromosome 20, 3084620: 3084620
7 AVP AVP, 3-BP DEL, NT1824 deletion Pathogenic
8 AVP NM_000490.4(AVP): c.294C> A (p.Cys98Ter) single nucleotide variant Pathogenic rs121964884 GRCh37 Chromosome 20, 3063651: 3063651
9 AVP NM_000490.4(AVP): c.294C> A (p.Cys98Ter) single nucleotide variant Pathogenic rs121964884 GRCh38 Chromosome 20, 3083005: 3083005
10 AVP NM_000490.4(AVP): c.277G> T (p.Gly93Trp) single nucleotide variant Pathogenic rs121964885 GRCh37 Chromosome 20, 3063668: 3063668
11 AVP NM_000490.4(AVP): c.277G> T (p.Gly93Trp) single nucleotide variant Pathogenic rs121964885 GRCh38 Chromosome 20, 3083022: 3083022
12 AVP AVP, 1-BP DEL, 227G deletion Pathogenic
13 AVP NM_000490.4(AVP): c.287G> T (p.Gly96Val) single nucleotide variant Pathogenic rs121964886 GRCh37 Chromosome 20, 3063658: 3063658
14 AVP NM_000490.4(AVP): c.287G> T (p.Gly96Val) single nucleotide variant Pathogenic rs121964886 GRCh38 Chromosome 20, 3083012: 3083012
15 AVP NM_000490.4(AVP): c.56C> T (p.Ala19Val) single nucleotide variant Pathogenic rs387906512 GRCh37 Chromosome 20, 3065265: 3065265
16 AVP NM_000490.4(AVP): c.56C> T (p.Ala19Val) single nucleotide variant Pathogenic rs387906512 GRCh38 Chromosome 20, 3084619: 3084619
17 AVP NM_000490.4(AVP): c.161G> T (p.Gly54Val) single nucleotide variant Pathogenic rs121964887 GRCh37 Chromosome 20, 3063784: 3063784
18 AVP NM_000490.4(AVP): c.161G> T (p.Gly54Val) single nucleotide variant Pathogenic rs121964887 GRCh38 Chromosome 20, 3083138: 3083138
19 AVP NM_000490.4(AVP): c.160G> C (p.Gly54Arg) single nucleotide variant Pathogenic rs121964888 GRCh37 Chromosome 20, 3063785: 3063785
20 AVP NM_000490.4(AVP): c.160G> C (p.Gly54Arg) single nucleotide variant Pathogenic rs121964888 GRCh38 Chromosome 20, 3083139: 3083139
21 AVP NM_000490.4(AVP): c.337G> T (p.Glu113Ter) single nucleotide variant Pathogenic rs121964889 GRCh37 Chromosome 20, 3063434: 3063434
22 AVP NM_000490.4(AVP): c.337G> T (p.Glu113Ter) single nucleotide variant Pathogenic rs121964889 GRCh38 Chromosome 20, 3082788: 3082788
23 AVP NM_000490.4(AVP): c.260C> T (p.Ser87Phe) single nucleotide variant Pathogenic rs121964890 GRCh37 Chromosome 20, 3063685: 3063685
24 AVP NM_000490.4(AVP): c.260C> T (p.Ser87Phe) single nucleotide variant Pathogenic rs121964890 GRCh38 Chromosome 20, 3083039: 3083039
25 AVP NM_000490.4(AVP): c.275G> A (p.Cys92Tyr) single nucleotide variant Pathogenic rs121964891 GRCh37 Chromosome 20, 3063670: 3063670
26 AVP NM_000490.4(AVP): c.275G> A (p.Cys92Tyr) single nucleotide variant Pathogenic rs121964891 GRCh38 Chromosome 20, 3083024: 3083024
27 AVP NM_000490.4(AVP): c.200T> C (p.Val67Ala) single nucleotide variant Pathogenic rs28934878 GRCh37 Chromosome 20, 3063745: 3063745
28 AVP NM_000490.4(AVP): c.200T> C (p.Val67Ala) single nucleotide variant Pathogenic rs28934878 GRCh38 Chromosome 20, 3083099: 3083099
29 AVP NM_000490.4(AVP): c.346T> G (p.Cys116Gly) single nucleotide variant Pathogenic rs74315383 GRCh37 Chromosome 20, 3063425: 3063425
30 AVP NM_000490.4(AVP): c.346T> G (p.Cys116Gly) single nucleotide variant Pathogenic rs74315383 GRCh38 Chromosome 20, 3082779: 3082779
31 AVP NM_000490.4(AVP): c.61T> C (p.Tyr21His) single nucleotide variant Pathogenic rs121964893 GRCh37 Chromosome 20, 3065260: 3065260
32 AVP NM_000490.4(AVP): c.61T> C (p.Tyr21His) single nucleotide variant Pathogenic rs121964893 GRCh38 Chromosome 20, 3084614: 3084614
33 AVP AVP, 3-BP DEL, PHE3DEL deletion Pathogenic
34 AVP NM_000490.4(AVP): c.131G> T (p.Cys44Phe) single nucleotide variant Likely pathogenic rs1057516192 GRCh38 Chromosome 20, 3083168: 3083168
35 AVP NM_000490.4(AVP): c.131G> T (p.Cys44Phe) single nucleotide variant Likely pathogenic rs1057516192 GRCh37 Chromosome 20, 3063814: 3063814

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 8.96 AVP AVPR2
2 secretory granule GO:0030141 8.8 AVP POMC RPH3A

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 regulation of signaling receptor activity GO:0010469 9.73 AVP GNRH1 POMC PRL
2 positive regulation of protein ubiquitination GO:0031398 9.55 AVPR2 WFS1
3 generation of precursor metabolites and energy GO:0006091 9.54 AVP POMC
4 excretion GO:0007588 9.51 AQP2 AVPR2
5 response to testosterone GO:0033574 9.49 AVP GNRH1
6 positive regulation of vasoconstriction GO:0045907 9.48 AVP AVPR2
7 water transport GO:0006833 9.46 AQP2 AVP
8 response to organic cyclic compound GO:0014070 9.4 AVP GNRH1
9 response to ethanol GO:0045471 9.37 AVP GNRH1
10 female pregnancy GO:0007565 9.33 GNRH1 LNPEP PRL
11 positive regulation of systemic arterial blood pressure GO:0003084 9.26 AVP AVPR2
12 cell-cell signaling GO:0007267 9.26 AVP GNRH1 LNPEP POMC
13 cellular response to hormone stimulus GO:0032870 9.22 AVPR2
14 ovulation cycle GO:0042698 9.02 GNRH1
15 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 hormone activity GO:0005179 8.92 AVP GNRH1 POMC PRL

Sources for Diabetes Insipidus, Neurohypophyseal

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