MCID: DBT087
MIFTS: 38

Diabetes Insipidus, Neurohypophyseal malady

Genetic diseases, Endocrine diseases, Rare diseases, Neuronal diseases categories

Summaries for Diabetes Insipidus, Neurohypophyseal

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Genetics Home Reference:21 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.

MalaCards based summary: Diabetes Insipidus, Neurohypophyseal, also known as central diabetes insipidus, is related to hypopituitarism and diabetes insipidus, and has symptoms including diabetes insipidus, weight loss and dehydration. An important gene associated with Diabetes Insipidus, Neurohypophyseal is AVP (arginine vasopressin). Affiliated tissues include pituitary.

OMIM:45 Neurohypophyseal diabetes insipidus is an autosomal dominant disorder of free water conservation characterized by... (125700) more...

Aliases & Classifications for Diabetes Insipidus, Neurohypophyseal

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Sources:
45OMIM, 10diseasecard, 21Genetics Home Reference, 9Disease Ontology, 11DISEASES, 43Novoseek, 47Orphanet, 60UMLS, 20GeneTests, 22GTR, 55SNOMED-CT, 33MeSH, 38NCIt, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Diabetes Insipidus, Neurohypophyseal, Aliases & Descriptions:

Name: Diabetes Insipidus, Neurohypophyseal 45 10 21
Central Diabetes Insipidus 9 21 43 47 60
Neurohypophyseal Diabetes Insipidus 9 21 11
Vasopressin Defective Diabetes Insipidus 9 21
Diabetes Insipidus Neurohypophyseal 20 22
Pituitary Diabetes Insipidus 9 21
Vasopressin Deficiency 9 21
 
Diabetes Insipidus Secondary to Vasopressin Deficiency 21
Diabetes Insipidus, Neurogenic 21
Neurogenic Diabetes Insipidus 47
Diabetes Insipidus, Pituitary 21
Diabetes Insipidus, Central 21
Cdi 47


Classifications:



Characteristics (Orphanet epidemiological data):

47
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


External Ids:

OMIM45 125700
Disease Ontology9 DOID:12388
MeSH33 D020790
NCIt38 C84933
Orphanet47 178029
MESH via Orphanet34 D020790
ICD10 via Orphanet26 E23.2
UMLS via Orphanet61 C0687720

Related Diseases for Diabetes Insipidus, Neurohypophyseal

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



Diseases related to diabetes insipidus, neurohypophyseal

Symptoms for Diabetes Insipidus, Neurohypophyseal

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Symptoms by clinical synopsis from OMIM:

125700

Clinical features from OMIM:

125700

Symptoms:

 47 (show all 19)
  • pollakiuria/polyuria/dysuria/anuria/acute urine retention/oliguria
  • diabetes insipidus
  • autosomal dominant inheritance
  • autosomal recessive inheritance
  • x-linked dominant inheritance
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • thirst
  • dehydration/hydroelectrolytic loss
  • facial pain/cephalalgia/migraine
  • somnolence/hypersomnia/parasomnia
  • obnubilation/coma/lethargia/desorientation
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • fever/chilling
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • acute diarrhea
  • seizures/epilepsy/absences/spasms/status epilepticus
  • hypernatremia
  • hyponatremia

HPO human phenotypes related to Diabetes Insipidus, Neurohypophyseal:

(show all 22)
id Description Frequency HPO Source Accession
1 diabetes insipidus hallmark (90%) HP:0000873
2 weight loss hallmark (90%) HP:0001824
3 dehydration hallmark (90%) HP:0001944
4 abnormal renal physiology hallmark (90%) HP:0012211
5 behavioral abnormality typical (50%) HP:0000708
6 migraine typical (50%) HP:0002076
7 abnormality of temperature regulation typical (50%) HP:0004370
8 reduced consciousness/confusion typical (50%) HP:0004372
9 seizures occasional (7.5%) HP:0001250
10 diarrhea occasional (7.5%) HP:0002014
11 nausea and vomiting occasional (7.5%) HP:0002017
12 hyponatremia occasional (7.5%) HP:0002902
13 hypernatremia occasional (7.5%) HP:0003228
14 autosomal dominant inheritance HP:0000006
15 hypertelorism HP:0000316
16 long philtrum HP:0000343
17 wide nose HP:0000445
18 central diabetes insipidus HP:0000863
19 osteopenia HP:0000938
20 abnormality of metabolism/homeostasis HP:0001939
21 gliosis HP:0002171
22 short nose HP:0003196

Drugs & Therapeutics for Diabetes Insipidus, Neurohypophyseal

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Drug clinical trials:

Search ClinicalTrials for Diabetes Insipidus, Neurohypophyseal

Search NIH Clinical Center for Diabetes Insipidus, Neurohypophyseal

Genetic Tests for Diabetes Insipidus, Neurohypophyseal

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Genetic tests related to Diabetes Insipidus, Neurohypophyseal:

id Genetic test Affiliating Genes
1 Neurohypophyseal Diabetes Insipidus20 22 AVP

Anatomical Context for Diabetes Insipidus, Neurohypophyseal

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MalaCards organs/tissues related to Diabetes Insipidus, Neurohypophyseal:

31
Pituitary

Animal Models for Diabetes Insipidus, Neurohypophyseal or affiliated genes

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Publications for Diabetes Insipidus, Neurohypophyseal

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Articles related to Diabetes Insipidus, Neurohypophyseal:

idTitleAuthorsYear
1
Gene symbol: AVP. Disease: Diabetes Insipidus, neurohypophyseal. (20960625)
2008
2
Gene symbol: AVP. Disease: Diabetes insipidus, neurohypophyseal. Accession #Hm0560. (17297716)
2006
3
Gene symbol: AVP. Disease: Diabetes insipidus, neurohypophyseal. Accession #Hm0561. (17297717)
2006
4
Gene symbol: AVP. Disease: Diabetes insipidus, neurohypophyseal. Accession #Hm0559. (17297715)
2006
5
Gene symbol: AVP. Disease: Diabetes insipidus, neurohypophyseal. Accession #Hm0558. (17297714)
2006

Variations for Diabetes Insipidus, Neurohypophyseal

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

62 (show all 39)
id Symbol AA change Variation ID SNP ID
1AVPp.Ser17PheVAR_004980
2AVPp.Ala19ThrVAR_004981
3AVPp.Ala19ValVAR_004982
4AVPp.Gly45ArgVAR_004983
5AVPp.Gly48ValVAR_004984
6AVPp.Arg51CysVAR_004985
7AVPp.Pro55LeuVAR_004986
8AVPp.Glu78GlyVAR_004988
9AVPp.Leu81ProVAR_004989
10AVPp.Gly88ArgVAR_004990
11AVPp.Gly88SerVAR_004991
12AVPp.Cys92SerVAR_004992
13AVPp.Gly93TrpVAR_004993
14AVPp.Gly96CysVAR_004994
15AVPp.Tyr21HisVAR_015262
16AVPp.Pro26LeuVAR_015263
17AVPp.Cys52ArgVAR_015264
18AVPp.Gly54ArgVAR_015265
19AVPp.Gly54ValVAR_015266
20AVPp.Cys59ArgVAR_015267
21AVPp.Cys59TyrVAR_015268
22AVPp.Ser87PheVAR_015269
23AVPp.Cys92TyrVAR_015270
24AVPp.Gly96ValVAR_015271
25AVPp.Arg97CysVAR_015272
26AVPp.Arg97ProVAR_015273
27AVPp.Cys98GlyVAR_015274
28AVPp.Cys104PheVAR_015275
29AVPp.Cys105ArgVAR_015276
30AVPp.Cys116GlyVAR_015277
31AVPp.Cys116ArgVAR_015278
32AVPp.Cys105TyrVAR_015279
33AVPp.Val67AlaVAR_019273rs28934878
34AVPp.Gly96AspVAR_019274
35AVPp.Cys104GlyVAR_019275
36AVPp.Cys116TrpVAR_019276
37AVPp.Cys58PheVAR_029997
38AVPp.Cys98SerVAR_029998
39AVPp.Ala99ProVAR_029999

Clinvar genetic disease variations for Diabetes Insipidus, Neurohypophyseal:

6 (show all 18)
id Gene Variation 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
4AVPAVP, 3-BP DEL, NT1824deletionPathogenic
5AVPNM_000490.4(AVP): c.294C> A (p.Cys98Ter)single nucleotide variantPathogenicrs121964884GRCh37Chr 20, 3063651: 3063651
6AVPNM_000490.4(AVP): c.277G> T (p.Gly93Trp)single nucleotide variantPathogenicrs121964885GRCh37Chr 20, 3063668: 3063668
7AVPAVP, 1-BP DEL, 227GdeletionPathogenic
8AVPNM_000490.4(AVP): c.287G> T (p.Gly96Val)single nucleotide variantPathogenicrs121964886GRCh37Chr 20, 3063658: 3063658
9AVPNM_000490.4(AVP): c.56C> T (p.Ala19Val)single nucleotide variantPathogenicrs387906512GRCh37Chr 20, 3065265: 3065265
10AVPNM_000490.4(AVP): c.161G> T (p.Gly54Val)single nucleotide variantPathogenicrs121964887GRCh37Chr 20, 3063784: 3063784
11AVPNM_000490.4(AVP): c.160G> C (p.Gly54Arg)single nucleotide variantPathogenicrs121964888GRCh37Chr 20, 3063785: 3063785
12AVPNM_000490.4(AVP): c.337G> T (p.Glu113Ter)single nucleotide variantPathogenicrs121964889GRCh37Chr 20, 3063434: 3063434
13AVPNM_000490.4(AVP): c.260C> T (p.Ser87Phe)single nucleotide variantPathogenicrs121964890GRCh37Chr 20, 3063685: 3063685
14AVPNM_000490.4(AVP): c.275G> A (p.Cys92Tyr)single nucleotide variantPathogenicrs121964891GRCh37Chr 20, 3063670: 3063670
15AVPNM_000490.4(AVP): c.200T> C (p.Val67Ala)single nucleotide variantPathogenicrs28934878GRCh37Chr 20, 3063745: 3063745
16AVPNM_000490.4(AVP): c.346T> G (p.Cys116Gly)single nucleotide variantPathogenicrs74315383GRCh37Chr 20, 3063425: 3063425
17AVPNM_000490.4(AVP): c.61T> C (p.Tyr21His)single nucleotide variantPathogenicrs121964893GRCh37Chr 20, 3065260: 3065260
18AVPAVP, 3-BP DEL, PHE3DELdeletionPathogenic

Expression for genes affiliated with Diabetes Insipidus, Neurohypophyseal

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

Pathways for genes affiliated with Diabetes Insipidus, Neurohypophyseal

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Compounds for genes affiliated with Diabetes Insipidus, Neurohypophyseal

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GO Terms for genes affiliated with Diabetes Insipidus, Neurohypophyseal

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Products for genes affiliated with Diabetes Insipidus, Neurohypophyseal

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Sources for Diabetes Insipidus, Neurohypophyseal

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet