MCID: NRG004
MIFTS: 39

Neurogenic Diabetes Insipidus malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Summaries for Neurogenic Diabetes Insipidus

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Sources:
44NIH Rare Diseases, 22Genetics Home Reference, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 Neurogenic diabetes insipidus is a disease that causes frequent urination. this type of diabetes insipidus 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. damage to the pituitary gland can be caused by different diseases as well as by head injuries, neurosurgery, or genetic disorders. to treat the adh deficiency that results from any kind of damage to the pituitary, a synthetic hormone called desmopressin can be taken by an injection, a nasal spray, or a pill. last updated: 5/18/2011

MalaCards: Neurogenic Diabetes Insipidus, also known as central diabetes insipidus, is related to diabetes insipidus and hypopituitarism. An important gene associated with Neurogenic Diabetes Insipidus is AVP (arginine vasopressin). Affiliated tissues include pituitary, brain and kidney.

Genetics Home Reference:22 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:66 Neurogenic diabetes insipidus, more commonly known as central diabetes insipidus, is due to a lack of... more...

Description from OMIM:48 125700

Aliases & Classifications for Neurogenic Diabetes Insipidus

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44NIH Rare Diseases, 22Genetics Home Reference, 11DISEASES, 46Novoseek, 63UMLS, 48OMIM, 21GeneTests, 23GTR
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Classifications:

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


Aliases & Descriptions:

neurogenic diabetes insipidus 44
central diabetes insipidus 44 22 46 63
neurohypophyseal diabetes insipidus 44 22 11
diabetes insipidus neurohypophyseal 44 21 23
diabetes insipidus, neurohypophyseal 22 48
pituitary diabetes insipidus 44 22
diabetes insipidus secondary to vasopressin deficiency 22
vasopressin defective diabetes insipidus 22
diabetes insipidus primary central 63
diabetes insipidus cranial type 44
diabetes insipidus, neurogenic 22
diabetes insipidus, pituitary 22
diabetes insipidus neurogenic 44
diabetes insipidus, central 22
vasopressin deficiency 22


Related Diseases for Neurogenic Diabetes Insipidus

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Neurogenic Diabetes Insipidus:



Diseases related to neurogenic diabetes insipidus

Symptoms for Neurogenic Diabetes Insipidus

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48OMIM
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Symptoms by clinical synopsis from OMIM:

125700

Clinical features from OMIM:

125700

Drugs & Therapeutics for Neurogenic Diabetes Insipidus

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Neurogenic Diabetes Insipidus

Search CenterWatch for Neurogenic Diabetes Insipidus

Genetic Tests for Neurogenic Diabetes Insipidus

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21GeneTests, 23GTR
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Genetic tests related to Neurogenic Diabetes Insipidus:

id Genetic test Affiliating Genes
1 Neurohypophyseal Diabetes Insipidus21 23 AVP

Anatomical Context for Neurogenic Diabetes Insipidus

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34MalaCards
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MalaCards organs/tissues related to Neurogenic Diabetes Insipidus:

34
Pituitary, Brain, Kidney, Liver, Lung

Animal Models for Neurogenic Diabetes Insipidus or affiliated genes

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Publications for Neurogenic Diabetes Insipidus

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53PubMed
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Articles related to Neurogenic Diabetes Insipidus:

(show all 18)
idTitleAuthorsYear
1
Late onset of familial neurogenic diabetes insipidus in monozygotic twins. (24156710)
2013
2
Central neurogenic diabetes insipidus, syndrome of inappropriate secretion of antidiuretic hormone, and cerebral salt-wasting syndrome in traumatic brain injury. (22467619)
2012
3
Treatment of neurogenic diabetes insipidus. (22071315)
2011
4
Neurogenic diabetes insipidus presenting in a patient with subacute liver failure: a case report. (20673320)
2010
5
Neurogenic diabetes insipidus. (17080264)
2006
6
Identification of a new mutation (CysII6Gly) in a family with neurogenic diabetes insipidus]. (10827849)
2000
7
Neurogenic diabetes insipidus in patients with systemic lupus erythematosus. (9709193)
1998
8
Neurogenic diabetes insipidus in children with hypoxic encephalopathy: six new cases and a review of the literature. (8929736)
1996
9
Continuous infusion of vasopressin in comatose children with neurogenic diabetes insipidus. (8821902)
1995
10
Neurogenic diabetes insipidus in a child with fatal Coxsackie virus B1 encephalitis. (8821910)
1995
11
Neurogenic diabetes insipidus: an unusual clinical presentation of small cell lung cancer. (8390898)
1993
12
Neurogenic diabetes insipidus in an initially healthy neonate. (2588585)
1989
13
Neurogenic diabetes insipidus in a sheep. (3944284)
1986
14
Idiopathic neurogenic diabetes insipidus in a cat. (6639529)
1983
15
Occurrence of diabetes mellitus in neurogenic diabetes insipidus. (7331673)
1981
16
Nephrology forum: neurogenic diabetes insipidus. (480789)
1979
17
The use of 1-desamino-8-D-arginine vasopressin (DDAVP) in the management of neurogenic diabetes insipidus (multiple etiologies in pediatric patients). (492086)
1979
18
Neurogenic diabetes insipidus: management with dDAVP (1-desamino-8-D arginine vasopressin). (626447)
1978

Variations for Neurogenic Diabetes Insipidus

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Neurogenic Diabetes Insipidus:

65 (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 Neurogenic Diabetes Insipidus:

1 (show all 18)
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
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 Neurogenic Diabetes Insipidus

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Neurogenic Diabetes Insipidus

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Pathways for genes affiliated with Neurogenic Diabetes Insipidus

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Compounds for genes affiliated with Neurogenic Diabetes Insipidus

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GO Terms for genes affiliated with Neurogenic Diabetes Insipidus

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Products for genes affiliated with Neurogenic Diabetes Insipidus

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  • Antibodies
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Sources for Neurogenic Diabetes Insipidus

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet