CDI
MCID: NRH001
MIFTS: 52

Neurohypophyseal Diabetes Insipidus (CDI) malady

Endocrine, Neuronal categories

Summaries for Neurohypophyseal Diabetes Insipidus

Sources:
47OMIM, 33MalaCards
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MalaCards: Neurohypophyseal Diabetes Insipidus, also known as central diabetes insipidus, is related to diabetes insipidus and neurogenic diabetes insipidus, and has symptoms including autosomal recessive inheritance, nausea/vomiting/regurgitation/merycism/hyperemesis and nausea/vomiting/regurgitation/merycism/hyperemesis. An important gene associated with Neurohypophyseal Diabetes Insipidus is AVP (arginine vasopressin), and among its related pathways are Glucocorticoid Pathway (HPA Axis), Pharmacodynamics and Regulation of Water Balance by Renal Aquaporins. The compounds hcrh and pitressin have been mentioned in the context of this disorder. Affiliated tissues include pituitary, and related mouse phenotypes are renal/urinary system and integument.

Description from OMIM:47 304900,125700

Aliases & Classifications for Neurohypophyseal Diabetes Insipidus

Sources:
8Disease Ontology, 9diseasecard, 49Orphanet, 61UMLS, 47OMIM, 57SNOMED-CT, 35MeSH, 40NCIt, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


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 61
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 Orphanet58 45369008
UMLS via Orphanet62 C0687720

Related Diseases for Neurohypophyseal Diabetes Insipidus

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 125)
idRelated DiseaseScoreTop Affiliating Genes
1diabetes insipidus31.7AQP2, AVP, AVPR2, OXT, POMC, PRL
2neurogenic diabetes insipidus31.3UBOX5, AQP2, AVP, AVPR2, OXT, POMC
3germinoma30.8AVP
4panhypopituitarism30.8AVP, POMC, PRL
5nephrogenic diabetes insipidus30.6AVPR2, AQP2
6sheehan syndrome30.5CRH, PRL, POMC
7pituitary apoplexy30.4PRL, POMC
8anovulation30.2PRL
9amenorrhea30.2POMC, PRL, CRH
10congenital central diabetes insipidus10.6
11acute leukemia10.6
12lymphocytic hypophysitis10.5
13acquired central diabetes insipidus10.5
14congenital toxoplasmosis10.5
15toxoplasmosis10.5
16brain injury10.4
17neurosarcoidosis10.4
18traumatic brain injury10.4
19clostridium difficile10.3
20acute myeloid leukemia10.3
21n syndrome10.3
22multifocal fibrosclerosis10.3
23autosomal dominant disease10.3
24systemic lupus erythematosus10.2
25stroke, ischemic10.2
26megakaryocytic leukemia10.2
27acute monocytic leukemia10.2
28central nervous system lymphoma10.2
29juvenile myelomonocytic leukemia10.2
30common variable immunodeficiency10.2
31cleft palate10.2
32acquired immunodeficiency syndrome10.2
33wolfram syndrome10.2
34chronic myeloid leukemia10.2
35polycystic kidney disease10.2
36aceruloplasminemia10.2
37graves' disease10.2
38acute lymphocytic leukemia10.2
39adenocarcinoma10.2
40arthritis10.2
41thyroiditis10.2
42thyrotoxicosis10.2
43tuberculosis10.2
44turner syndrome10.2
45west nile encephalitis10.2
46acute myelomonocytic leukemia10.2
47genoa syndrome10.2
48septo-optic dysplasia10.2
49ectrodactyly cleft palate syndrome10.2
50herpes simplex encephalitis10.2

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



Diseases related to neurohypophyseal diabetes insipidus

Clinical Features for Neurohypophyseal Diabetes Insipidus

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

304900,125700

Symptoms:

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

Drugs & Therapeutics for Neurohypophyseal Diabetes Insipidus

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Neurohypophyseal Diabetes Insipidus

Drug clinical trials:

Search ClinicalTrials for Neurohypophyseal Diabetes Insipidus

Search NIH Clinical Center for Neurohypophyseal Diabetes Insipidus

Search CenterWatch for Neurohypophyseal Diabetes Insipidus

Genetic Tests for Neurohypophyseal Diabetes Insipidus

Anatomical Context for Neurohypophyseal Diabetes Insipidus

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Neurohypophyseal Diabetes Insipidus:

33
Pituitary

Animal Models for Neurohypophyseal Diabetes Insipidus or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Neurohypophyseal Diabetes Insipidus:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053677.8AQP2, NLRP3, POMC, OXT, CLCNKA, AVPR2
2MP:00107717.3NLRP3, CRH, PRL, POMC, OXT, AVPR2
3MP:00053867.0CRH, PRL, POMC, OXT, AVPR2, AVP
4MP:00053766.8NLRP3, CRH, PRL, POMC, OXT, CLCNKA

Publications for Neurohypophyseal Diabetes Insipidus

Sources:
51PubMed
See all sources

Articles related to Neurohypophyseal Diabetes Insipidus:

(show top 50)    (show all 71)
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
Clinical review: Treatment of neurohypophyseal diabetes insipidus. (23884783)
2013
4
A missense mutation in the arginine-vasopressin neurophysin-II gene causes autosomal dominant neurohypophyseal diabetes insipidus in a Chinese family. (23252994)
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
Polyuria and polydipsia in a young child: diagnostic considerations and identification of novel mutation causing familial neurohypophyseal diabetes insipidus. (20401697)
2012
8
Familial neurohypophyseal diabetes insipidus due to a novel mutation in the arginine vasopressin-neurophysin II gene. (21498630)
2011
9
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
10
Autosomal recessive familial neurohypophyseal diabetes insipidus: onset in early infancy. (19897608)
2010
11
Spontaneous regression of isolated neurohypophyseal langerhans cell histiocytosis with diabetes insipidus. (19461161)
2009
12
Utility of AVP gene testing in familial neurohypophyseal diabetes insipidus. (18494865)
2008
13
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
14
Gene symbol: AVP. Disease: Diabetes insipidus, neurohypophyseal. Accession #Hm0561. (17297717)
2006
15
A novel heterozygous missense mutation in the vasopressin moiety is identified in a Japanese person with neurohypophyseal diabetes insipidus. (16682840)
2006
16
Gene symbol: AVP. Disease: Diabetes insipidus, neurohypophyseal. Accession #Hm0559. (17297715)
2006
17
Gene symbol: AVP. Disease: Diabetes insipidus, neurohypophyseal. Accession #Hm0558. (17297714)
2006
18
Expression of three different mutations in the arginine vasopressin gene suggests genotype-phenotype correlation in familial neurohypophyseal diabetes insipidus kindreds. (16060916)
2005
19
Autosomal dominant neurohypophyseal diabetes insipidus with linkage to chromosome 20p13 but without mutations in the AVP-NPII gene. (15811933)
2005
20
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
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
Impaired trafficking of mutated AVP prohormone in cells expressing rare disease genes causing autosomal dominant familial neurohypophyseal diabetes insipidus. (14678298)
2004
24
Novel mutant vasopressin-neurophysin II gene associated with familial neurohypophyseal diabetes insipidus. (15644573)
2004
25
Autosomal dominant familial neurohypophyseal diabetes insipidus. (12874957)
2003
26
Progressive decline of vasopressin secretion in familial autosomal dominant neurohypophyseal diabetes insipidus presenting a novel mutation in the vasopressin-neurophysin II gene. (14510916)
2003
27
A new missense mutation of the vasopressin-neurophysin II gene in a family with neurohypophyseal diabetes insipidus. (12931042)
2003
28
A murine model of autosomal dominant neurohypophyseal diabetes insipidus reveals progressive loss of vasopressin-producing neurons. (14660745)
2003
29
Autosomal dominant neurohypophyseal diabetes insipidus due to substitution of histidine for tyrosine-2 in the vasopressin moiety of the hormone precursor. (12107248)
2002
30
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
31
A missense mutation encoding Cys73Phe in neurophysin II is associated with autosomal dominant neurohypophyseal diabetes insipidus. (12359138)
2002
32
A missense mutation encoding cys(67) --> gly in neurophysin ii is associated with early onset autosomal dominant neurohypophyseal diabetes insipidus. (11161827)
2001
33
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
34
Familial neurohypophyseal diabetes insipidus associated with a novel mutation in the vasopressin-neurophysin II gene. (10677561)
2000
35
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
36
Endoplasmic reticulum derangement in hypothalamic neurons of rats expressing a familial neurohypophyseal diabetes insipidus mutant vasopressin transgene. (10973916)
2000
37
A novel arginine vasopressin-neurophysin II mutation causes autosomal dominant neurohypophyseal diabetes insipidus and morphologic pituitary changes. (11150885)
2000
38
Molecular analysis in familial neurohypophyseal diabetes insipidus: early diagnosis of an asymptomatic carrier. (10487710)
1999
39
Autosomal recessive familial neurohypophyseal diabetes insipidus with continued secretion of mutant weakly active vasopressin. (10369876)
1999
40
Mutant vasopressin precursors that cause autosomal dominant neurohypophyseal diabetes insipidus retain dimerization and impair the secretion of wild-type proteins. (10085151)
1999
41
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
42
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
43
Magnetic resonance imaging of posterior pituitary for evaluation of the neurohypophyseal function in idiopathic and autosomal dominant neurohypophyseal diabetes insipidus. (9265683)
1997
44
Molecular basis of autosomal dominant neurohypophyseal diabetes insipidus. Cellular toxicity caused by the accumulation of mutant vasopressin precursors within the endoplasmic reticulum. (9109434)
1997
45
Genetic basis of familial neurohypophyseal diabetes insipidus. (18406826)
1997
46
Recurrent mutations in the vasopressin-neurophysin II gene cause autosomal dominant neurohypophyseal diabetes insipidus. (8964872)
1996
47
A novel mutation in the coding region for neurophysin-II is associated with autosomal dominant neurohypophyseal diabetes insipidus. (8706292)
1996
48
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
49
A missense mutation in the vasopressin-neurophysin precursor gene cosegregates with human autosomal dominant neurohypophyseal diabetes insipidus. (1740104)
1992
50
A family with congenital hypothalamic neurohypophyseal diabetes insipidus. (5422994)
1970

Genetic Variations for Neurohypophyseal Diabetes Insipidus

Expression for genes affiliated with Neurohypophyseal Diabetes Insipidus

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
50PharmGKB, 54Reactome, 30KEGG, 38NCBI BioSystems Database
See all sources

Compounds for genes affiliated with Neurohypophyseal Diabetes Insipidus

Sources:
45Novoseek, 29IUPHAR, 60Tocris Bioscience, 11DrugBank, 24HMDB, 50PharmGKB, 2BitterDB
See all sources

Compounds related to Neurohypophyseal Diabetes Insipidus according to GeneCards/GeneDecks:

(show top 50)    (show all 86)
idCompoundScoreTop Affiliating Genes
1hcrh4510.0POMC, CRH
2pitressin4510.0CRH, POMC
3antalarmin45 2910.9CRH, POMC
4atosiban29 4510.9OXT, AVPR2
5flesinoxan459.9PRL, POMC
6proliferin459.9CRH, PRL
7d[leu4,lys8]-vp609.8NLRP3, AVPR2, AVP
8(d(ch2)51,tyr(me)2,arg8)-vasopressin609.8NLRP3, AVPR2, AVP
9[arg8]-vasopressin609.8NLRP3, AVPR2, AVP
10sr 4905960 2910.8NLRP3, AVPR2, AVP
11ether459.8AVP, POMC, CRH
12arginine vasotocin459.8OXT, CRH
13oxytocin29 60 11 2412.7AVPR2, OXT
14acth 1-24459.7POMC, PRL, CRH
1511 deoxycortisol459.7CRH, PRL, POMC
16mirtazapine50 45 1111.6POMC, PRL, CRH
17fenfluramine29 45 1111.6POMC, PRL, CRH
18naltrexone45 50 29 1112.6CRH, PRL, POMC
1917-hydroxyprogesterone45 2410.6CRH, PRL, POMC
20allopregnanolone459.6OXT, POMC, CRH
21chloride459.6CLCNKA, AVPR2, AVP, AQP2
22dehydroepiandrosterone sulfate459.6CRH, PRL, POMC
23carbamazepine45 50 1111.5POMC, PRL, CRH
24ipsapirone45 2910.5PRL, POMC, OXT
25octreotide45 60 29 1112.5POMC, PRL, CRH
26diazepam45 50 29 1112.5OXT, POMC, CRH
27fluoxetine50 45 29 1112.5CRH, PRL, OXT
28dhea459.5CRH, PRL, POMC
29melatonin45 60 29 11 2413.4PRL, OXT, AVP
30androstenedione45 2410.3CRH, PRL, POMC
31hydrocortisone45 2 60 1112.3AQP2, POMC, PRL, CRH
32haloperidol45 29 2 50 1113.3AQP2, POMC, PRL
33hexarelin45 2910.2CRH, PRL, POMC, OXT
34naloxone45 50 29 1112.1OXT, POMC, PRL, CRH
35opiate459.1OXT, POMC, PRL, CRH
36corticosterone45 60 2411.1CRH, PRL, POMC, OXT
37mifepristone45 60 29 1112.1CRH, PRL, POMC, OXT
38progestin459.1PRL, POMC, OXT
39thyroxine45 2410.1CRH, PRL, POMC, OXT
40creatinine458.9CRH, POMC, OXT, AVP, AQP2
41dexamethasone45 50 29 1111.8CRH, PRL, POMC, AVP, AQP2
42norepinephrine45 11 2410.8CRH, PRL, POMC, OXT, AVP
43epinephrine45 11 2410.8CRH, PRL, POMC, OXT, AQP2
44progesterone45 60 29 11 2412.7CRH, PRL, POMC, OXT, AQP2
45acth458.6CRH, PRL, POMC, OXT, AVPR2, AVP
46steroid458.5CRH, PRL, POMC, OXT, AVP, AQP2
47alanine458.5CRH, POMC, AVPR2, AVP, AQP2
48arginine458.2CRH, PRL, POMC, OXT, AVPR2, AVP
49desmopressin45 60 29 1111.2AQP2, AVP, AVPR2, OXT, POMC, CRH
50glutamate458.1NPTX2, CRH, OXT, AVPR2, AVP

GO Terms for genes affiliated with Neurohypophyseal Diabetes Insipidus

Sources:
16Gene Ontology
See all sources

Cellular components related to Neurohypophyseal Diabetes Insipidus according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1secretory granuleGO:0301418.5PRL, POMC, OXT, AVP
2extracellular regionGO:0055767.6NPTX2, CRH, PRL, POMC, OXT, AVP

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

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of systemic arterial blood pressureGO:00308410.1AVP, AVPR2
2maternal aggressive behaviorGO:00212510.0OXT, AVP
3hyperosmotic salinity responseGO:0425389.9AVP, OXT
4negative regulation of urine volumeGO:0358119.9AVPR2, OXT
5water transportGO:0068339.9AVPR2, AVP, AQP2
6response to etherGO:0454729.9CRH, OXT
7maternal behaviorGO:0427119.9OXT, AVP
8parturitionGO:0075679.8PRL, CRH
9positive regulation of cAMP biosynthetic processGO:0308199.8AVP, CRH
10excretionGO:0075889.8AQP2, AVPR2, CLCNKA
11grooming behaviorGO:0076259.8AVP, OXT
12response to ethanolGO:0454719.6CRH, PRL, AVP
13positive regulation of gene expressionGO:0106289.6CRH, AVPR2, AVP
14negative regulation of blood pressureGO:0457769.5CRH, OXT
15social behaviorGO:0351769.4AVP, OXT
16transmembrane transportGO:0550859.2AQP2, AVP, AVPR2, CLCNKA
17female pregnancyGO:0075659.1AQP2, OXT, PRL, CRH
18signal transductionGO:0071658.5NLRP3, CRH, POMC, OXT, AVP

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

idNameGO IDScoreTop Affiliating Genes
1neuropeptide hormone activityGO:0051849.8AVP, CRH
2neurohypophyseal hormone activityGO:0051859.6AVP, OXT
3hormone activityGO:0051798.9POMC, PRL, CRH

Products for genes affiliated with Neurohypophyseal Diabetes Insipidus

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Neurohypophyseal Diabetes Insipidus

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet