CDI
MCID: NRH001
MIFTS: 56

Neurohypophyseal Diabetes Insipidus (CDI) malady

Endocrine diseases, Rare diseases, Neuronal diseases categories
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Summaries for Neurohypophyseal Diabetes Insipidus

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47OMIM, 33MalaCards
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Fully expand this MalaCard
MalaCards: Neurohypophyseal Diabetes Insipidus, also known as central diabetes insipidus, is related to diabetes insipidus and neurogenic diabetes insipidus, and has symptoms including hypernatremia, hyponatremia and pollakiuria/polyuria/dysuria/anuria/acute urine retention/oliguria. An important gene associated with Neurohypophyseal Diabetes Insipidus is AVP (arginine vasopressin), and among its related pathways are Vasopressin-regulated water reabsorption and Regulation of Water Balance by Renal Aquaporins. The compounds atosiban and oxytocin have been mentioned in the context of this disorder. Affiliated tissues include pituitary and testes, and related mouse phenotypes are integument and growth/size/body.

Description from OMIM:47 125700,304900

Aliases & Classifications for Neurohypophyseal Diabetes Insipidus

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Sources:
8Disease Ontology, 9diseasecard, 49Orphanet, 62UMLS, 35MeSH, 58SNOMED-CT, 47OMIM, 40NCIt, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Endocrine diseases, Neuronal diseases


Characteristics (Orphanet epidemiological data):

49
central diabetes insipidus:
Inheritance: Autosomal dominant,Autosomal recessive,X-linked dominant; Prevalence: 1-9/100000; Age of onset: Childhood; Age of death: Normal
hereditary neurogenic diabetes insipidus:
Inheritance: Autosomal dominant,Autosomal recessive,X-linked dominant; Age of onset: Childhood; Age of death: Normal


Aliases & Descriptions:

neurohypophyseal diabetes insipidus 8
central diabetes insipidus 8 49 62
hereditary neurogenic diabetes insipidus 49
vasopressin defective diabetes insipidus 8
hereditary central diabetes insipidus 49
diabetes insipidus, neurohypophyseal 9
neurogenic diabetes insipidus 49
pituitary diabetes insipidus 8
vasopressin deficiency 8
hereditary cdi 49
cdi 49


External Ids:

Disease Ontology8 DOID:12388
MeSH35 D020790
NCIt40 C84933
MESH via Orphanet36 D020790
ICD10 via Orphanet26 E23.2
SNOMED-CT via Orphanet59 45369008
UMLS via Orphanet63 C0687720

Related Diseases for Neurohypophyseal Diabetes Insipidus

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17GeneCards, 18GeneDecks
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Diseases related to Neurohypophyseal Diabetes Insipidus via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 99)
idRelated DiseaseScoreTop Affiliating Genes
1diabetes insipidus31.6AVPR2, AVP, POMC, AQP2, OXT
2neurogenic diabetes insipidus31.2AVPR2, AVP, POMC, AQP2, OXT
3hypopituitarism30.9AQP2, POMC, AVP
4panhypopituitarism30.9AVP, POMC
5nephrogenic diabetes insipidus30.6AVPR2, AQP2
6pituitary apoplexy30.5POMC
7craniopharyngioma30.3AVP, POMC
8hypothyroidism30.2AVP, POMC, OXT
9leukemia10.6
10germinoma10.6
11lymphocytic hypophysitis10.6
12langerhans-cell histiocytosis10.5
13congenital toxoplasmosis10.5
14histiocytosis10.5
15toxoplasmosis10.5
16acquired central diabetes insipidus10.5
17congenital central diabetes insipidus10.5
18neuronitis10.4
19encephalitis10.4
20myeloid leukemia10.4
21brain injury10.4
22neurosarcoidosis10.4
23traumatic brain injury10.4
24cerebritis10.3
25acute myeloid leukemia10.3
26diabetes mellitus10.3
27hypogonadism10.3
28sarcoidosis10.3
29b-cell lymphomas10.3
30multifocal fibrosclerosis10.3
31systemic lupus erythematosus10.2
32lung cancer10.2
33lupus erythematosus10.2
34megakaryocytic leukemia10.2
35acute monocytic leukemia10.2
36sheehan syndrome10.2
37cleft lip10.2
38acquired immunodeficiency syndrome10.2
39chronic myeloid leukemia10.2
40polycystic kidney disease10.2
41juvenile myelomonocytic leukemia10.2
42common variable immunodeficiency10.2
43wegener's granulomatosis10.2
44amenorrhea10.2
45anovulation10.2
46graves' disease10.2
47aceruloplasminemia10.2
48down syndrome10.2
49acute lymphocytic leukemia10.2
50adenocarcinoma10.2

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



Diseases related to neurohypophyseal diabetes insipidus

Symptoms for Neurohypophyseal Diabetes Insipidus

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Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

125700,304900

Symptoms:

49 (show all 20)
  • hypernatremia
  • hyponatremia
  • pollakiuria/polyuria/dysuria/anuria/acute urine retention/oliguria
  • diabetes insipidus
  • thirst
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • malabsorption/chronic diarrhea/steatorrhea
  • obnubilation/coma/lethargia/desorientation
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • fever/chilling
  • seizures/epilepsy/absences/spasms/status epilepticus
  • acute diarrhea
  • autosomal dominant inheritance
  • autosomal recessive inheritance
  • x-linked dominant inheritance
  • dehydration/hydroelectrolytic loss
  • facial pain/cephalalgia/migraine
  • somnolence/hypersomnia/parasomnia

Drugs & Therapeutics for Neurohypophyseal Diabetes Insipidus

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Neurohypophyseal Diabetes Insipidus

Search NIH Clinical Center for Neurohypophyseal Diabetes Insipidus

Genetic Tests for Neurohypophyseal Diabetes Insipidus

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Anatomical Context for Neurohypophyseal Diabetes Insipidus

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33MalaCards
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MalaCards organs/tissues related to Neurohypophyseal Diabetes Insipidus:

33
Pituitary, Testes

Animal Models for Neurohypophyseal Diabetes Insipidus or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Neurohypophyseal Diabetes Insipidus:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.3AVPR2, POMC, AQP2, OXT, NLRP3
2MP:00053788.2NLRP3, OXT, AQP2, POMC, AVPR2
3MP:00053678.0NLRP3, OXT, AQP2, POMC, AVP, AVPR2
4MP:00053767.8AVPR2, AVP, POMC, AQP2, OXT, NLRP3
5MP:00107687.7AVPR2, AVP, POMC, AQP2, OXT, NLRP3
6MP:00036317.6AVP, POMC, OXT, NLRP3, NPTX2
7MP:00053867.5AVPR2, AVP, POMC, AQP2, OXT, NPTX2

Publications for Neurohypophyseal Diabetes Insipidus

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Sources:
52PubMed
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Articles related to Neurohypophyseal Diabetes Insipidus:

(show top 50)    (show all 63)
idTitleAuthorsYear
1
Dilatative Uropathy as a Manifestation of Neurohypophyseal Diabetes Insipidus due to a Novel Mutation in the Arginine Vasopressin-Neurophysin-II Gene. (24158882)
2013
2
A novel variation in the AVP gene resulting in familial neurohypophyseal diabetes insipidus in a large Italian kindred. (22695750)
2013
3
A novel deletion partly removing the AVP gene causes autosomal recessive inheritance of early-onset neurohypophyseal diabetes insipidus. (22168581)
2013
4
Clinical review: Treatment of neurohypophyseal diabetes insipidus. (23884783)
2013
5
Late-onset familial neurohypophyseal diabetes insipidus due to a novel mutation in the AVP gene. (22524462)
2012
6
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
7
Familial neurohypophyseal diabetes insipidus due to a novel mutation in the arginine vasopressin-neurophysin II gene. (21498630)
2011
8
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
9
Autosomal recessive familial neurohypophyseal diabetes insipidus: onset in early infancy. (19897608)
2010
10
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
11
Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a novel mutation in arginine-vasopressin gene in a Brazilian family. (19169480)
2008
12
Utility of AVP gene testing in familial neurohypophyseal diabetes insipidus. (18494865)
2008
13
A novel heterozygous missense mutation in the vasopressin moiety is identified in a Japanese person with neurohypophyseal diabetes insipidus. (16682840)
2006
14
Familial neurohypophyseal diabetes insipidus--an update. (16713494)
2006
15
Autophagy-dependent cell survival and cell death in an autosomal dominant familial neurohypophyseal diabetes insipidus in vitro model. (15781608)
2005
16
Expression of three different mutations in the arginine vasopressin gene suggests genotype-phenotype correlation in familial neurohypophyseal diabetes insipidus kindreds. (16060916)
2005
17
Autosomal dominant neurohypophyseal diabetes insipidus with linkage to chromosome 20p13 but without mutations in the AVP-NPII gene. (15811933)
2005
18
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
19
Autophagy is a prosurvival mechanism in cells expressing an autosomal dominant familial neurohypophyseal diabetes insipidus mutant vasopressin transgene. (15781609)
2005
20
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
21
A novel mutation in the preprovasopressin gene identified in a kindred with autosomal dominant neurohypophyseal diabetes insipidus. (15070970)
2004
22
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
23
Autosomal dominant familial neurohypophyseal diabetes insipidus. (12874957)
2003
24
Progressive decline of vasopressin secretion in familial autosomal dominant neurohypophyseal diabetes insipidus presenting a novel mutation in the vasopressin-neurophysin II gene. (14510916)
2003
25
Autosomal dominant neurohypophyseal diabetes insipidus due to substitution of histidine for tyrosine-2 in the vasopressin moiety of the hormone precursor. (12107248)
2002
26
A missense mutation encoding Cys73Phe in neurophysin II is associated with autosomal dominant neurohypophyseal diabetes insipidus. (12359138)
2002
27
A missense mutation encoding cys(67) --> gly in neurophysin ii is associated with early onset autosomal dominant neurohypophyseal diabetes insipidus. (11161827)
2001
28
A new mutation of the arginine vasopressin-neurophysin II gene in a family with autosomal dominant neurohypophyseal diabetes insipidus. (11748489)
2001
29
Familial neurohypophyseal diabetes insipidus associated with a novel mutation in the vasopressin-neurophysin II gene. (10677561)
2000
30
Identification of two distinct mutations at the same nucleotide position, concomitantly with a novel polymorphism in the vasopressin- neurophysin II gene (AVP-NP II) in two Dutch families with familial neurohypophyseal diabetes insipidus. (11017955)
2000
31
Endoplasmic reticulum derangement in hypothalamic neurons of rats expressing a familial neurohypophyseal diabetes insipidus mutant vasopressin transgene. (10973916)
2000
32
Molecular analysis in familial neurohypophyseal diabetes insipidus: early diagnosis of an asymptomatic carrier. (10487710)
1999
33
Clinical and molecular evidence of abnormal processing and trafficking of the vasopressin preprohormone in a large kindred with familial neurohypophyseal diabetes insipidus due to a signal peptide mutation. (10443701)
1999
34
A novel mutation (R97C) in the neurophysin moiety of prepro-vasopressin-neurophysin II associated with autosomal-dominant neurohypophyseal diabetes insipidus. (10329029)
1999
35
Autosomal recessive familial neurohypophyseal diabetes insipidus with continued secretion of mutant weakly active vasopressin. (10369876)
1999
36
Mutant vasopressin precursors that cause autosomal dominant neurohypophyseal diabetes insipidus retain dimerization and impair the secretion of wild-type proteins. (10085151)
1999
37
Identification of a novel nonsense mutation and a missense substitution in the vasopressin-neurophysin II gene in two Spanish kindreds with familial neurohypophyseal diabetes insipidus. (9580132)
1998
38
Autosomal dominant neurohypophyseal diabetes insipidus associated with a missense mutation encoding Gly23-->Val in neurophysin II. (9360520)
1997
39
Heterogeneity in clinical manifestation of autosomal dominant neurohypophyseal diabetes insipidus caused by a mutation encoding Ala-1-->Val in the signal peptide of the arginine vasopressin/neurophysin II/copeptin precursor. (8989232)
1997
40
Magnetic resonance imaging of posterior pituitary for evaluation of the neurohypophyseal function in idiopathic and autosomal dominant neurohypophyseal diabetes insipidus. (9265683)
1997
41
Molecular basis of autosomal dominant neurohypophyseal diabetes insipidus. Cellular toxicity caused by the accumulation of mutant vasopressin precursors within the endoplasmic reticulum. (9109434)
1997
42
Genetic basis of familial neurohypophyseal diabetes insipidus. (18406826)
1997
43
A novel point mutation in the translation initiation codon of the pre-pro-vasopressin-neurophysin II gene: cosegregation with morphological abnormalities and clinical symptoms in autosomal dominant neurohypophyseal diabetes insipidus. (8550751)
1996
44
Recurrent mutations in the vasopressin-neurophysin II gene cause autosomal dominant neurohypophyseal diabetes insipidus. (8964872)
1996
45
A novel mutation in the coding region for neurophysin-II is associated with autosomal dominant neurohypophyseal diabetes insipidus. (8706292)
1996
46
A de novo mutation in the coding sequence for neurophysin-II (Pro24-->Leu) is associated with onset and transmission of autosomal dominant neurohypophyseal diabetes insipidus. (8045958)
1994
47
Familial neurohypophyseal diabetes insipidus associated with a signal peptide mutation. (8370682)
1993
48
A missense mutation in the vasopressin-neurophysin precursor gene cosegregates with human autosomal dominant neurohypophyseal diabetes insipidus. (1740104)
1992
49
Molecular analysis of autosomal dominant neurohypophyseal diabetes insipidus. (1968469)
1990
50
A family with congenital hypothalamic neurohypophyseal diabetes insipidus. (5422994)
1970

Variations for Neurohypophyseal Diabetes Insipidus

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Neurohypophyseal Diabetes Insipidus:

1 (show all 15)
id Gene Name Type Significance SNP ID Assembly Location
1AVPNM_000490.4(AVP): c.262G> A (p.Gly88Ser)single nucleotide variantPathogenicrs121964882GRCh37Chr 20, 3063683: 3063683
2AVPNM_000490.4(AVP): c.143G> T (p.Gly48Val)single nucleotide variantPathogenicrs121964883GRCh37Chr 20, 3063802: 3063802
3AVPNM_000490.4(AVP): c.55G> A (p.Ala19Thr)single nucleotide variantPathogenicrs387906511GRCh37Chr 20, 3065266: 3065266
4AVPNM_000490.4(AVP): c.294C> A (p.Cys98Ter)single nucleotide variantPathogenicrs121964884GRCh37Chr 20, 3063651: 3063651
5AVPNM_000490.4(AVP): c.277G> T (p.Gly93Trp)single nucleotide variantPathogenicrs121964885GRCh37Chr 20, 3063668: 3063668
6AVPNM_000490.4(AVP): c.287G> T (p.Gly96Val)single nucleotide variantPathogenicrs121964886GRCh37Chr 20, 3063658: 3063658
7AVPNM_000490.4(AVP): c.56C> T (p.Ala19Val)single nucleotide variantPathogenicrs387906512GRCh37Chr 20, 3065265: 3065265
8AVPNM_000490.4(AVP): c.161G> T (p.Gly54Val)single nucleotide variantPathogenicrs121964887GRCh37Chr 20, 3063784: 3063784
9AVPNM_000490.4(AVP): c.160G> C (p.Gly54Arg)single nucleotide variantPathogenicrs121964888GRCh37Chr 20, 3063785: 3063785
10AVPNM_000490.4(AVP): c.337G> T (p.Glu113Ter)single nucleotide variantPathogenicrs121964889GRCh37Chr 20, 3063434: 3063434
11AVPNM_000490.4(AVP): c.260C> T (p.Ser87Phe)single nucleotide variantPathogenicrs121964890GRCh37Chr 20, 3063685: 3063685
12AVPNM_000490.4(AVP): c.275G> A (p.Cys92Tyr)single nucleotide variantPathogenicrs121964891GRCh37Chr 20, 3063670: 3063670
13AVPNM_000490.4(AVP): c.200T> C (p.Val67Ala)single nucleotide variantPathogenicrs28934878GRCh37Chr 20, 3063745: 3063745
14AVPNM_000490.4(AVP): c.346T> G (p.Cys116Gly)single nucleotide variantPathogenicrs74315383GRCh37Chr 20, 3063425: 3063425
15AVPNM_000490.4(AVP): c.61T> C (p.Tyr21His)single nucleotide variantPathogenicrs121964893GRCh37Chr 20, 3065260: 3065260

Expression for genes affiliated with Neurohypophyseal Diabetes Insipidus

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Neurohypophyseal Diabetes Insipidus

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

Pathways for genes affiliated with Neurohypophyseal Diabetes Insipidus

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Sources:
50PathCards, 30KEGG, 55Reactome, 60Thomson Reuters, 38NCBI BioSystems Database
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Pathways related to Neurohypophyseal Diabetes Insipidus according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3AQP2, AVP, AVPR2
2
Show member pathways
9.3AVPR2, AVP, AQP2
3
Show member pathways
9.3AQP2, AVP, AVPR2
49.2POMC, AVP, AVPR2
5
Show member pathways
8.7OXT, POMC, AVP, AVPR2
6
Show member pathways
8.7AVPR2, AVP, POMC, OXT

Compounds for genes affiliated with Neurohypophyseal Diabetes Insipidus

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Sources:
45Novoseek, 29IUPHAR, 61Tocris Bioscience, 24HMDB, 11DrugBank, 51PharmGKB, 3BitterDB
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Compounds related to Neurohypophyseal Diabetes Insipidus according to GeneCards/GeneDecks:

(show all 43)
idCompoundScoreTop Affiliating Genes
1atosiban45 2911.0OXT, AVPR2
2oxytocin61 29 24 1113.0OXT, AVPR2
3ether45 5111.0POMC, AVP
4furosemide45 61 29 51 24 1114.8AQP2, POMC
5ipsapirone45 2910.8OXT, POMC
6allopregnanolone459.8POMC, OXT
7melatonin45 29 61 24 1113.8AVP, OXT
8hexarelin45 2910.8OXT, POMC
9pge1459.8OXT, AVPR2
10d[leu4,lys8]-vp619.8AVPR2, AVP, NLRP3
11(d(ch2)51,tyr(me)2,arg8)-vasopressin619.8AVPR2, AVP, NLRP3
12[arg8]-vasopressin619.8AVPR2, AVP, NLRP3
13sr 4905961 2910.8AVPR2, AVP, NLRP3
14naloxone45 29 51 1112.8POMC, OXT
15diazepam45 29 51 1112.8OXT, POMC
16opiate459.7OXT, POMC
17phenylephrine45 29 24 1112.7POMC, OXT
18chloride459.7AVPR2, AVP, AQP2
19progestin459.6OXT, POMC
20sodium45 2410.6AVPR2, AVP, AQP2
21corticosterone45 61 2411.5OXT, POMC
22catecholamine459.5AVP, POMC
23haloperidol45 51 29 3 1113.5AQP2, POMC
24mifepristone45 29 61 1112.5OXT, POMC
25hydrocortisone45 3 61 1112.5AQP2, POMC
26norepinephrine45 24 1111.4OXT, POMC, AVP
27adenylate459.4AQP2, POMC, AVPR2
28aspartate459.4OXT, POMC, AVPR2
29epinephrine45 24 1111.3OXT, AQP2, POMC
30forskolin45 51 1111.3OXT, AQP2, POMC
31pge2459.3OXT, AQP2, POMC
32alanine459.2AVPR2, AVP, POMC, AQP2
33cysteine459.1AVPR2, AVP, AQP2, OXT
34acth459.1OXT, POMC, AVP, AVPR2
35progesterone45 29 61 24 1113.1POMC, AQP2, OXT
36creatinine459.0AVP, POMC, AQP2, OXT
37steroid459.0OXT, AQP2, POMC, AVP
38dexamethasone45 51 29 1111.9AQP2, POMC, AVP
39serine458.8OXT, AQP2, POMC, AVP
40glutamate458.8NPTX2, OXT, AVP, AVPR2
41arginine458.7AVPR2, AVP, POMC, AQP2, OXT
42calcium45 51 24 1111.3AVPR2, AVP, AQP2, OXT, NPTX2
43desmopressin45 61 29 1111.3NLRP3, AVPR2, AVP, POMC, AQP2, OXT

GO Terms for genes affiliated with Neurohypophyseal Diabetes Insipidus

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Sources:
16Gene Ontology
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Cellular components related to Neurohypophyseal Diabetes Insipidus according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1secretory granuleGO:0301418.8OXT, POMC, AVP
2extracellular regionGO:0055768.3NPTX2, OXT, POMC, AVP

Biological processes related to Neurohypophyseal Diabetes Insipidus according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of systemic arterial blood pressureGO:00308410.0AVP, AVPR2
2maternal aggressive behaviorGO:0021259.9OXT, AVP
3hyperosmotic salinity responseGO:0425389.9AVP, OXT
4negative regulation of urine volumeGO:0358119.8AVPR2, OXT
5maternal behaviorGO:0427119.8AVP, OXT
6grooming behaviorGO:0076259.8OXT, AVP
7social behaviorGO:0351769.7OXT, AVP
8excretionGO:0075889.7AQP2, AVPR2
9generation of precursor metabolites and energyGO:0060919.6AVP, POMC
10positive regulation of cytosolic calcium ion concentrationGO:0072049.6OXT, AVP
11water transportGO:0068339.6AQP2, AVP, AVPR2
12female pregnancyGO:0075659.4OXT, AQP2
13transmembrane transportGO:0550859.0AQP2, AVP, AVPR2
14signal transductionGO:0071658.8AVP, POMC, OXT, NLRP3

Molecular functions related to Neurohypophyseal Diabetes Insipidus according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1neurohypophyseal hormone activityGO:0051859.6OXT, AVP

Products for genes affiliated with Neurohypophyseal Diabetes Insipidus

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Neurohypophyseal Diabetes Insipidus

About this section
4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet