NDI
MCID: DBT087
MIFTS: 60

Diabetes Insipidus, Neurohypophyseal (NDI)

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

Aliases & Classifications for Diabetes Insipidus, Neurohypophyseal

MalaCards integrated aliases for Diabetes Insipidus, Neurohypophyseal:

Name: Diabetes Insipidus, Neurohypophyseal 57 25 75 13 40
Neurohypophyseal Diabetes Insipidus 12 53 25 37 29 6 15
Central Diabetes Insipidus 12 76 53 25 59 55 73
Cdi 57 59 75 3
Neurogenic Diabetes Insipidus 53 59 75
Pituitary Diabetes Insipidus 12 53 25
Diabetes Insipidus, Neurohypophyseal Type 57 29
Vasopressin Defective Diabetes Insipidus 12 25
Diabetes Insipidus Cranial Type 53 75
Diabetes Insipidus, Neurogenic 25 44
Vasopressin Deficiency 12 25
Diabetes Insipidus Secondary to Vasopressin Deficiency 25
Diabetes Insipidus, Primary Central; Cdi 57
Diabetes Insipidus, Primary Central 57
Diabetes Insipidus Neurohypophyseal 53
Primary Central Diabetes Insipidus 75
Diabetes Insipidus, Cranial Type 57
Diabetes Insipidus Neurogenic 53
Diabetes Insipidus, Pituitary 25
Diabetes Insipidus, Central 25
Ndi 75

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
autosomal dominant


HPO:

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

diabetes insipidus, neurohypophyseal:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare endocrine diseases


Summaries for Diabetes Insipidus, Neurohypophyseal

NIH Rare Diseases : 53 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 polyuria and polydipsia. 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 depressivity and seizures

OMIM : 57 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 : 75 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 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

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.

Wikipedia : 76 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 76)
# Related Disease Score Top Affiliating Genes
1 diabetes insipidus, nephrogenic, x-linked 32.6 AQP2 AVPR2
2 diabetes insipidus, nephrogenic, autosomal 31.6 AQP2 AVP AVPR2 LNPEP
3 wolfram syndrome 29.3 AVP WFS1
4 diabetes insipidus 28.4 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 10.6 AVP AVPR2
9 bronchus cancer 10.6 AVP AVPR2
10 seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance 10.6 AQP2 AVP
11 peripheral vertigo 10.6 AQP2 AVP
12 vestibular disease 10.6 AQP2 AVP
13 central nervous system germinoma 10.6 AVP POMC
14 tuberculous epididymitis 10.5 AVP POMC
15 central nervous system germ cell tumor 10.5 AVP POMC
16 secondary hypertrophic osteoarthropathy 10.5 AVP POMC
17 tuberculous empyema 10.5 AVPR2 POMC
18 cervix small cell carcinoma 10.5 AVP POMC
19 adenohypophysitis 10.4 POMC PRL
20 pituitary carcinoma 10.4 POMC PRL
21 sella turcica neoplasm 10.4 POMC PRL
22 tuberculum sellae meningioma 10.4 POMC PRL
23 wolfram syndrome 1 10.4 AVP WFS1
24 nelson syndrome 10.4 POMC PRL
25 sheehan syndrome 10.4 POMC PRL
26 hyperpituitarism 10.4 POMC PRL
27 acth-secreting pituitary adenoma 10.4 POMC PRL
28 hypothyroidism, congenital, nongoitrous, 4 10.4 POMC PRL
29 pancreas disease 10.4 AVP POMC
30 functioning pituitary adenoma 10.4 POMC PRL
31 ectopic cushing syndrome 10.4 AVPR2 POMC
32 adrenal cortex disease 10.3 POMC PRL
33 adrenal gland disease 10.3 POMC PRL
34 endocrine organ benign neoplasm 10.3 POMC PRL
35 pituitary tumors 10.3 POMC PRL
36 impaired renal function disease 10.3 AQP2 AVP AVPR2
37 gynecomastia 10.3 POMC PRL
38 adrenal gland hyperfunction 10.2 POMC PRL
39 endometriosis of uterus 10.2 GNRH1 PRL
40 autosomal dominant polycystic kidney disease 10.2 AQP2 AVP AVPR2
41 hypogonadotropism 10.2 GNRH1 PRL
42 acth-independent macronodular adrenal hyperplasia 10.2 AVPR2 GNRH1
43 thyroid gland disease 10.2 POMC PRL
44 organ system benign neoplasm 10.2 POMC PRL
45 hypokalemia 10.2 AQP2 POMC
46 urinary system disease 10.1 AQP2 AVP POMC
47 cell type benign neoplasm 10.1 POMC PRL
48 central nervous system organ benign neoplasm 10.1 AVP POMC PRL
49 pituitary hormone deficiency, combined, 2 10.1 AVP POMC PRL
50 adrenal rest tumor 10.1 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:

57
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:

59 32 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 depressivity 59 32 frequent (33%) Frequent (79-30%) HP:0000716
2 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
3 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
4 nausea and vomiting 59 32 occasional (7.5%) Occasional (29-5%) HP:0002017
5 dehydration 59 32 hallmark (90%) Very frequent (99-80%) HP:0001944
6 fever 59 32 frequent (33%) Frequent (79-30%) HP:0001945
7 polydipsia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001959
8 weight loss 59 32 hallmark (90%) Very frequent (99-80%) HP:0001824
9 anxiety 59 32 frequent (33%) Frequent (79-30%) HP:0000739
10 anorexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002039
11 diabetes insipidus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000873
12 hyponatremia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002902
13 diarrhea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002014
14 lethargy 59 32 frequent (33%) Frequent (79-30%) HP:0001254
15 headache 59 32 frequent (33%) Frequent (79-30%) HP:0002315
16 nocturia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000017
17 excessive daytime somnolence 59 32 frequent (33%) Frequent (79-30%) HP:0001262
18 hypertelorism 32 HP:0000316
19 osteopenia 32 HP:0000938
20 short nose 32 HP:0003196
21 hypokalemia 32 HP:0002900
22 abnormality of metabolism/homeostasis 32 HP:0001939
23 long philtrum 32 HP:0000343
24 hydronephrosis 32 HP:0000126
25 wide nose 32 HP:0000445
26 gliosis 32 HP:0002171
27 central diabetes insipidus 32 HP:0000863
28 polyuria 32 HP:0000103
29 alkalosis 32 HP:0001948

UMLS symptoms related to Diabetes Insipidus, Neurohypophyseal:


polyuria, polydipsia

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

26
# 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:

46
# 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 GNRH1 POMC AQP2 AVP AVPR2

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 Copeptin in the Differential Diagnosis of Dysnatremia in Hospitalized Patients Completed NCT01456533
6 Seoul National University Pituitary Disease Cohort Study Recruiting NCT03474601
7 Evaluation of Plasma Volume Using Ultrasound in Disorders of Fluid With Sodium Active, not recruiting NCT01547650
8 Use of Copeptin Measurement After Arginine Infusion for the Differential Diagnosis of Diabetes Insipidus - the CARGOx Study Not yet recruiting NCT03572166 Not Applicable

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 29 AVP
2 Diabetes Insipidus, Neurohypophyseal Type 29

Anatomical Context for Diabetes Insipidus, Neurohypophyseal

MalaCards organs/tissues related to Diabetes Insipidus, Neurohypophyseal:

41
Pituitary, Brain, Kidney, Testes, Bone, Hypothalamus

Publications for Diabetes Insipidus, Neurohypophyseal

Articles related to Diabetes Insipidus, Neurohypophyseal:

(show top 50) (show all 76)
# Title Authors Year
1
Identification of five novel arginine vasopressin gene mutations in patients with familial neurohypophyseal diabetes insipidus. ( 27513365 )
2016
2
A novel AVP gene mutation in a Turkish family with neurohypophyseal diabetes insipidus. ( 26208472 )
2016
3
Two novel mutations in seven Czech and Slovak kindreds with familial neurohypophyseal diabetes insipidus-benefit of genetic testing. ( 27539621 )
2016
4
Genetic forms of neurohypophyseal diabetes insipidus. ( 27156762 )
2016
5
Identification of an AVP-NPII mutation within the AVP moiety in a family with neurohypophyseal diabetes insipidus: review of the literature. ( 26233932 )
2015
6
Type III Bartter-like syndrome in an infant boy with Gitelman syndrome and autosomal dominant familial neurohypophyseal diabetes insipidus. ( 24825090 )
2014
7
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
8
Clinical review: Treatment of neurohypophyseal diabetes insipidus. ( 23884783 )
2013
9
Dilatative Uropathy as a Manifestation of Neurohypophyseal Diabetes Insipidus due to a Novel Mutation in the Arginine Vasopressin-Neurophysin-II Gene. ( 24158882 )
2013
10
A novel deletion partly removing the AVP gene causes autosomal recessive inheritance of early-onset neurohypophyseal diabetes insipidus. ( 22168581 )
2013
11
A novel variation in the AVP gene resulting in familial neurohypophyseal diabetes insipidus in a large Italian kindred. ( 22695750 )
2013
12
A missense mutation in the arginine-vasopressin neurophysin-II gene causes autosomal dominant neurohypophyseal diabetes insipidus in a Chinese family. ( 23252994 )
2013
13
Polyuria and polydipsia in a young child: diagnostic considerations and identification of novel mutation causing familial neurohypophyseal diabetes insipidus. ( 20401697 )
2012
14
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
15
Late-onset familial neurohypophyseal diabetes insipidus due to a novel mutation in the AVP gene. ( 22524462 )
2012
16
Familial neurohypophyseal diabetes insipidus due to a novel mutation in the arginine vasopressin-neurophysin II gene. ( 21498630 )
2011
17
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
18
Autosomal recessive familial neurohypophyseal diabetes insipidus: onset in early infancy. ( 19897608 )
2010
19
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
20
Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a novel mutation in arginine-vasopressin gene in a Brazilian family. ( 19169480 )
2008
21
[Mutations in the arginine vasopressin neurophysin-II gene in familial neurohypophyseal diabetes insipidus patients]. ( 18807739 )
2008
22
Gene symbol: AVP. Disease: Diabetes Insipidus, neurohypophyseal. ( 20960625 )
2008
23
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
24
Utility of AVP gene testing in familial neurohypophyseal diabetes insipidus. ( 18494865 )
2008
25
A novel heterozygous missense mutation in the vasopressin moiety is identified in a Japanese person with neurohypophyseal diabetes insipidus. ( 16682840 )
2006
26
Gene symbol: AVP. Disease: Diabetes insipidus, neurohypophyseal. Accession #Hm0560. ( 17297716 )
2006
27
Gene symbol: AVP. Disease: Diabetes insipidus, neurohypophyseal. Accession #Hm0561. ( 17297717 )
2006
28
Familial neurohypophyseal diabetes insipidus--an update. ( 16713494 )
2006
29
Gene symbol: AVP. Disease: Diabetes insipidus, neurohypophyseal. Accession #Hm0559. ( 17297715 )
2006
30
Gene symbol: AVP. Disease: Diabetes insipidus, neurohypophyseal. Accession #Hm0558. ( 17297714 )
2006
31
Autophagy-dependent cell survival and cell death in an autosomal dominant familial neurohypophyseal diabetes insipidus in vitro model. ( 15781608 )
2005
32
Autosomal dominant neurohypophyseal diabetes insipidus with linkage to chromosome 20p13 but without mutations in the AVP-NPII gene. ( 15811933 )
2005
33
Expression of three different mutations in the arginine vasopressin gene suggests genotype-phenotype correlation in familial neurohypophyseal diabetes insipidus kindreds. ( 16060916 )
2005
34
Autophagy is a prosurvival mechanism in cells expressing an autosomal dominant familial neurohypophyseal diabetes insipidus mutant vasopressin transgene. ( 15781609 )
2005
35
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
36
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
37
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
38
Novel mutant vasopressin-neurophysin II gene associated with familial neurohypophyseal diabetes insipidus. ( 15644573 )
2004
39
Impaired trafficking of mutated AVP prohormone in cells expressing rare disease genes causing autosomal dominant familial neurohypophyseal diabetes insipidus. ( 14678298 )
2004
40
A novel mutation in the preprovasopressin gene identified in a kindred with autosomal dominant neurohypophyseal diabetes insipidus. ( 15070970 )
2004
41
A new missense mutation of the vasopressin-neurophysin II gene in a family with neurohypophyseal diabetes insipidus. ( 12931042 )
2003
42
Autosomal dominant familial neurohypophyseal diabetes insipidus. ( 12874957 )
2003
43
A murine model of autosomal dominant neurohypophyseal diabetes insipidus reveals progressive loss of vasopressin-producing neurons. ( 14660745 )
2003
44
Progressive decline of vasopressin secretion in familial autosomal dominant neurohypophyseal diabetes insipidus presenting a novel mutation in the vasopressin-neurophysin II gene. ( 14510916 )
2003
45
Effects of aging on vasopressin production in a kindred with autosomal dominant neurohypophyseal diabetes insipidus due to the DeltaE47 neurophysin mutation. ( 11836335 )
2002
46
Autosomal dominant neurohypophyseal diabetes insipidus due to substitution of histidine for tyrosine-2 in the vasopressin moiety of the hormone precursor. ( 12107248 )
2002
47
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
48
A missense mutation encoding Cys73Phe in neurophysin II is associated with autosomal dominant neurohypophyseal diabetes insipidus. ( 12359138 )
2002
49
Autosomal dominant neurohypophyseal diabetes insipidus in a Swiss family, caused by a novel mutation (C59Delta/A60W) in the neurophysin moiety of prepro-vasopressin-neurophysin II (AVP-NP II). ( 11581002 )
2001
50
A new mutation of the arginine vasopressin-neurophysin II gene in a family with autosomal dominant neurohypophyseal diabetes insipidus. ( 11748489 )
2001

Variations for Diabetes Insipidus, Neurohypophyseal

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

75 (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 12)
# Name GO ID Score Top Affiliating Genes
1 regulation of signaling receptor activity GO:0010469 9.62 AVP GNRH1 POMC PRL
2 membrane organization GO:0061024 9.54 AVP AVPR2 LNPEP
3 positive regulation of protein ubiquitination GO:0031398 9.51 AVPR2 WFS1
4 generation of precursor metabolites and energy GO:0006091 9.49 AVP POMC
5 excretion GO:0007588 9.48 AQP2 AVPR2
6 response to testosterone GO:0033574 9.46 AVP GNRH1
7 cell-cell signaling GO:0007267 9.46 AVP GNRH1 LNPEP POMC
8 positive regulation of vasoconstriction GO:0045907 9.43 AVP AVPR2
9 female pregnancy GO:0007565 9.43 GNRH1 LNPEP PRL
10 water transport GO:0006833 9.4 AQP2 AVP
11 positive regulation of systemic arterial blood pressure GO:0003084 8.96 AVP AVPR2
12 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 neuropeptide hormone activity GO:0005184 8.96 AVP POMC
2 hormone activity GO:0005179 8.92 AVP GNRH1 POMC PRL

Sources for Diabetes Insipidus, Neurohypophyseal

3 CDC
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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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