NDI
MCID: DBT087
MIFTS: 58

Diabetes Insipidus, Neurohypophyseal (NDI)

Categories: Endocrine diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Diabetes Insipidus, Neurohypophyseal

MalaCards integrated aliases for Diabetes Insipidus, Neurohypophyseal:

Name: Diabetes Insipidus, Neurohypophyseal 56 25 73 13 39
Neurohypophyseal Diabetes Insipidus 12 52 25 36 29 6 15
Central Diabetes Insipidus 12 74 52 25 58 54 71
Neurogenic Diabetes Insipidus 52 58 73
Pituitary Diabetes Insipidus 12 52 25
Cdi 56 58 73
Diabetes Insipidus, Neurohypophyseal Type 56 29
Vasopressin Defective Diabetes Insipidus 12 25
Diabetes Insipidus Cranial Type 52 73
Diabetes Insipidus, Neurogenic 25 43
Vasopressin Deficiency 12 25
Diabetes Insipidus Secondary to Vasopressin Deficiency 25
Diabetes Insipidus, Primary Central; Cdi 56
Diabetes Insipidus, Primary Central 56
Diabetes Insipidus Neurohypophyseal 52
Primary Central Diabetes Insipidus 73
Diabetes Insipidus, Cranial Type 56
Diabetes Insipidus Neurogenic 52
Diabetes Insipidus, Pituitary 25
Diabetes Insipidus, Central 25
Ndi 73

Characteristics:

Orphanet epidemiological data:

58
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:

56
Inheritance:
autosomal dominant


HPO:

31
diabetes insipidus, neurohypophyseal type:
Inheritance x-linked inheritance x-linked dominant inheritance

diabetes insipidus, neurohypophyseal:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare endocrine diseases


Summaries for Diabetes Insipidus, Neurohypophyseal

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. People with neurohypophyseal diabetes insipidus can quickly become dehydrated if they do not drink enough water. Dehydration can lead to constipation and dry skin. If the disorder is not treated, more serious complications of dehydration can occur. These include confusion, low blood pressure, seizures, and coma. Neurohypophyseal diabetes insipidus can be either acquired or familial. The acquired form is brought on by injuries, tumors, and other factors, and can occur at any time during life. The familial form is caused by genetic mutations; its signs and symptoms usually become apparent in childhood and worsen over time. Neurohypophyseal diabetes insipidus should not be confused with diabetes mellitus, which is much more common. Diabetes mellitus is characterized by high blood sugar levels resulting from a shortage of the hormone insulin or an insensitivity to this hormone. Although neurohypophyseal diabetes insipidus and diabetes mellitus have some features in common, they are separate disorders with different causes.

MalaCards based summary : Diabetes Insipidus, Neurohypophyseal, also known as neurohypophyseal diabetes insipidus, is related to diabetes insipidus, nephrogenic, autosomal and germinoma, and has symptoms including polydipsia and polyuria. An important gene associated with Diabetes Insipidus, Neurohypophyseal is AVP (Arginine Vasopressin), and among its related pathways/superpathways are Tight junction and Amoebiasis. The drugs tannic acid and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include pituitary, brain and kidney, and related phenotypes are failure to thrive and dehydration

NIH Rare Diseases : 52 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.

OMIM : 56 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 vasopressin deficiency during childhood (summary by Wahlstrom et al., 2004). (125700)

KEGG : 36 Central Diabetes Insipidus is a heterogeneous condition characterized by polyuria and polydipsia caused by defect of antidiuretic hormone secreted from the pituitary gland.

UniProtKB/Swiss-Prot : 73 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.

Wikipedia : 74 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 514)
# Related Disease Score Top Affiliating Genes
1 diabetes insipidus, nephrogenic, autosomal 33.3 OXT LNPEP AVPR2 AVP AQP2
2 germinoma 31.4 PRL PAGR1 AVP
3 hereditary nephrogenic diabetes insipidus 30.9 AVPR2 AQP2
4 secondary adrenal insufficiency 30.7 IGF1 AVP
5 hypokalemia 30.6 POMC AVPR2 AQP2
6 lung oat cell carcinoma 30.5 POMC AVP
7 pituitary tumors 30.2 PRL POMC IGF1
8 craniopharyngioma 30.1 TRH PRL IGF1 GNRH1
9 adenohypophysitis 30.1 TRH PRL POMC
10 hypopituitarism 30.1 TRH PRL POMC IGF1 GNRH1
11 pituitary hormone deficiency, combined, 2 30.0 TRH PRL POMC IGF1 AVP
12 hypothyroidism 29.9 TRH PRL POMC IGF1 GNRH1
13 anovulation 29.9 PRL IGF1 GNRH1
14 inappropriate adh syndrome 29.9 POMC OXT AVPR2 AVP AQP2
15 turner syndrome 29.8 PRL POMC IGF1
16 autosomal dominant polycystic kidney disease 29.8 IGF1 AVPR2 AVP AQP2
17 erdheim-chester disease 29.7 CD1E CD1C CD1B CD1A
18 pituitary gland disease 29.7 TRH PRL POMC IGF1 GNRH1 AVP
19 anorexia nervosa 29.7 PRL POMC OXT IGF1
20 sheehan syndrome 29.5 PRL POMC LNPEP IGF1 AVP
21 hyperthyroidism 29.5 TRH PRL POMC IGF1
22 hyperprolactinemia 29.4 TRH PRL POMC IGF1 GNRH1
23 pituitary adenoma 29.4 TRH PRL POMC IGF1 GNRH1
24 sexual disorder 29.4 PRL POMC OXT IGF1 GNRH1
25 septooptic dysplasia 29.4 TRH PRL POMC IGF1 GNRH1 AVP
26 pituitary apoplexy 29.4 TRH PRL POMC IGF1 GNRH1 AVP
27 empty sella syndrome 29.4 TRH PRL POMC IGF1 GNRH1
28 diabetes insipidus 29.3 WFS1 PRL POMC OXT NPTX2 AVPR2
29 adenoma 29.3 TRH PRL POMC IGF1
30 non-langerhans-cell histiocytosis 29.3 CD1E CD1C CD1B CD1A
31 juvenile xanthogranuloma 29.3 CD1E CD1C CD1B CD1A
32 amenorrhea 29.2 TRH PRL POMC IGF1 GNRH1
33 pituitary infarct 29.1 TRH PRL POMC IGF1 AVP
34 acromegaly 29.0 TRH PRL POMC IGF1 GNRH1
35 meningioma, familial 28.9 PRL POMC IGF1 CD1E CD1B CD1A
36 acquired central diabetes insipidus 12.6
37 hypopituitarism, congenital, with central diabetes insipidus 12.6
38 diabetes insipidus, nephrogenic, x-linked 12.2
39 histiocytosis 10.8
40 langerhans cell histiocytosis 10.7
41 hereditary central diabetes insipidus 10.7
42 gestational diabetes insipidus 10.5 LNPEP AVP
43 growth hormone deficiency 10.5
44 nephrogenic syndrome of inappropriate antidiuresis 10.5 AVPR2 AVP
45 lactocele 10.4 PRL OXT
46 tuberculum sellae meningioma 10.4 PRL POMC
47 sella turcica neoplasm 10.4 PRL POMC
48 holoprosencephaly 10.4
49 prolactin producing pituitary tumor 10.4 PRL POMC
50 hypothyroidism, congenital, nongoitrous, 4 10.4 PRL 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

Human phenotypes related to Diabetes Insipidus, Neurohypophyseal:

58 31 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
2 dehydration 58 31 hallmark (90%) Very frequent (99-80%) HP:0001944
3 polydipsia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001959
4 weight loss 58 31 hallmark (90%) Very frequent (99-80%) HP:0001824
5 diabetes insipidus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000873
6 anorexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002039
7 nocturia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000017
8 fever 58 31 frequent (33%) Frequent (79-30%) HP:0001945
9 anxiety 58 31 frequent (33%) Frequent (79-30%) HP:0000739
10 depressivity 58 31 frequent (33%) Frequent (79-30%) HP:0000716
11 headache 58 31 frequent (33%) Frequent (79-30%) HP:0002315
12 lethargy 58 31 frequent (33%) Frequent (79-30%) HP:0001254
13 excessive daytime somnolence 58 31 frequent (33%) Frequent (79-30%) HP:0001262
14 nausea and vomiting 58 31 occasional (7.5%) Occasional (29-5%) HP:0002017
15 hyponatremia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002902
16 diarrhea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002014
17 seizure 31 occasional (7.5%) HP:0001250
18 hypertelorism 31 HP:0000316
19 seizures 58 Occasional (29-5%)
20 short nose 31 HP:0003196
21 hypokalemia 31 HP:0002900
22 abnormality of metabolism/homeostasis 31 HP:0001939
23 osteopenia 31 HP:0000938
24 hydronephrosis 31 HP:0000126
25 long philtrum 31 HP:0000343
26 wide nose 31 HP:0000445
27 central diabetes insipidus 31 HP:0000863
28 gliosis 31 HP:0002171
29 alkalosis 31 HP:0001948
30 polyuria 31 HP:0000103

Symptoms via clinical synopsis from OMIM:

56
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

UMLS symptoms related to Diabetes Insipidus, Neurohypophyseal:


polydipsia, polyuria

MGI Mouse Phenotypes related to Diabetes Insipidus, Neurohypophyseal:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.56 AQP2 AVPR2 GNRH1 IGF1 OXT POMC
2 renal/urinary system MP:0005367 9.23 AQP2 AVP AVPR2 GNRH1 IGF1 OXT

Drugs & Therapeutics for Diabetes Insipidus, Neurohypophyseal

Drugs for Diabetes Insipidus, Neurohypophyseal (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
tannic acid Approved Phase 2 1401-55-4
2
Benzocaine Approved, Investigational Phase 2 94-09-7, 1994-09-7 2337
3 Arginine Vasopressin Phase 2
4 Hemostatics Phase 2
5 Vasopressins Phase 2
6 Coagulants Phase 2
7 Vasoconstrictor Agents Phase 2
8
Arginine Investigational, Nutraceutical Phase 2 74-79-3 6322
9
Chlorpropamide Approved, Investigational 94-20-2 2727
10 Hypoglycemic Agents
11 Hormone Antagonists
12 Hormones
13 Deamino Arginine Vasopressin

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 Peroral Administration of Different Doses of Desmopressin Administered as a New Orally-Disintegrating Tablet and Desmopressin for Nasal Administration in the Treatment of CDI in Japanese Patients Completed NCT01280188 Phase 3 Desmopressin Oral Melt;Desmopressin intranasal
2 AVERT Shock: Arginine Vasopressin During the Early Resuscitation of Traumatic Shock Completed NCT01611935 Phase 2 Vasopressin
3 Study of the Pathogenesis and Pathophysiology of Familial Neurohypophyseal Diabetes Insipidus Completed NCT00004363 chlorpropamide;desmopressin
4 Vasopressin Deficiency in Hemorrhagic Shock Completed NCT01107314
5 Use of Copeptin in the Differential Diagnosis of Diabetes insipidus-a Prospective International Study Completed NCT01940614
6 Copeptin in the Diagnosis and Differential Diagnosis of Diabetes Insipidus. The CoSIP-Study Completed NCT00757276
7 Seoul National University Pituitary Disease Cohort Study Recruiting NCT03474601
8 Copeptin as a Biomarker for Central Diabetes Insipidus Development Following Pituitary Surgery Recruiting NCT04369703
9 Use of Copeptin Measurement After Arginine Infusion for the Differential Diagnosis of Diabetes Insipidus - the CARGOx Study Recruiting NCT03572166
10 Study on the Therapeutic Schedule and Mechanism of Suoquan Mixture Combined With Desmopressin to Children's Monosymptomatic Enuresis Recruiting NCT03733873 Desmopressin;Suoquan
11 Wolfram Syndrome International Registry and Clinical Study Recruiting NCT02841553
12 Interest of the Copeptine Dosage in Diagnosis of Post-operative Insipidus Diabetes After Transsphenoidal Pituitary Surgery Not yet recruiting NCT04326569

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:

40
Pituitary, Brain, Kidney, Skin, Bone, Hypothalamus, Testes

Publications for Diabetes Insipidus, Neurohypophyseal

Articles related to Diabetes Insipidus, Neurohypophyseal:

(show top 50) (show all 160)
# Title Authors PMID Year
1
A novel mutation in the preprovasopressin gene identified in a kindred with autosomal dominant neurohypophyseal diabetes insipidus. 54 61 56 6
15070970 2004
2
Six novel mutations in the arginine vasopressin gene in 15 kindreds with autosomal dominant familial neurohypophyseal diabetes insipidus give further insight into the pathogenesis. 61 6 56
14673472 2004
3
A murine model of autosomal dominant neurohypophyseal diabetes insipidus reveals progressive loss of vasopressin-producing neurons. 61 56 6
14660745 2003
4
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. 61 54 6
9580132 1998
5
Autosomal dominant neurohypophyseal diabetes insipidus associated with a missense mutation encoding Gly23-->Val in neurophysin II. 61 6 54
9360520 1997
6
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. 61 54 6
8989232 1997
7
A new type of familial central diabetes insipidus caused by a single base substitution in the neurophysin II coding region of the vasopressin gene. 6 54 61
8626836 1996
8
Detection of a novel arginine vasopressin defect by dideoxy fingerprinting. 6 61 54
8370681 1993
9
Molecular analysis of autosomal dominant neurohypophyseal diabetes insipidus. 54 61 56
1968469 1990
10
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. 6 61
15356057 2004
11
Dominant-negative diabetes insipidus and other endocrinopathies. 61 56
14660740 2003
12
Autosomal dominant neurohypophyseal diabetes insipidus due to substitution of histidine for tyrosine(2) in the vasopressin moiety of the hormone precursor. 61 6
12107248 2002
13
Effects of aging on vasopressin production in a kindred with autosomal dominant neurohypophyseal diabetes insipidus due to the DeltaE47 neurophysin mutation. 61 6
11836335 2002
14
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. 61 6
11017955 2000
15
Molecular analysis in familial neurohypophyseal diabetes insipidus: early diagnosis of an asymptomatic carrier. 61 6
10487710 1999
16
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. 61 6
10443701 1999
17
Autosomal recessive familial neurohypophyseal diabetes insipidus with continued secretion of mutant weakly active vasopressin. 61 56
10369876 1999
18
Identification of mutations of the arginine vasopressin-neurophysin II gene in two kindreds with familial central diabetes insipidus. 6 54
9467595 1998
19
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. 61 6
8550751 1996
20
Two novel mutations in the coding region for neurophysin-II associated with familial central diabetes insipidus. 6 54
7714110 1995
21
Familial neurohypophyseal diabetes insipidus associated with a signal peptide mutation. 6 61
8370682 1993
22
Glu-47, which forms a salt bridge between neurophysin-II and arginine vasopressin, is deleted in patients with familial central diabetes insipidus. 6 54
8103767 1993
23
A missense mutation in the vasopressin-neurophysin precursor gene cosegregates with human autosomal dominant neurohypophyseal diabetes insipidus. 6 61
1740104 1992
24
A single base substitution in the coding region for neurophysin II associated with familial central diabetes insipidus. 54 6
1840604 1991
25
Central diabetes insipidus and autoimmunity: relationship between the occurrence of antibodies to arginine vasopressin-secreting cells and clinical, immunological, and radiological features in a large cohort of patients with central diabetes insipidus of known and unknown etiology. 56
12679449 2003
26
Familial neurohypophysial diabetes insipidus in a large Dutch kindred: effect of the onset of diabetes on growth in children and cell biological defects of the mutant vasopressin prohormone. 6
11443218 2001
27
Effect of a short-term treatment with alendronate on bone density and bone markers in patients with central diabetes insipidus. 56
10404801 1999
28
Thickened pituitary stalk on magnetic resonance imaging in children with central diabetes insipidus. 56
10372693 1999
29
Two novel mutations of the vasopressin gene associated with familial diabetes insipidus and identification of an asymptomatic carrier infant. 6
9814475 1998
30
Impairment of bone status in patients with central diabetes insipidus. 56
9661594 1998
31
Heterologous expression of human vasopressin-neurophysin precursors in a pituitary cell line: defective transport of a mutant protein from patients with familial diabetes insipidus. 6
8945633 1996
32
Possible involvement of inefficient cleavage of preprovasopressin by signal peptidase as a cause for familial central diabetes insipidus. 6
8514868 1993
33
Reversal of diabetes insipidus in Brattleboro rats: intrahypothalamic injection of vasopressin mRNA. 56
1546298 1992
34
Facial dysmorphism: a marker of autosomal dominant cranial diabetes insipidus. 56
1920373 1991
35
Sweat tests in patients with diabetes insipidus. 6
3390991 1988
36
Familial cranial diabetes insipidus: a report of five families. Genetic, diagnostic and therapeutic aspects. 56
4095258 1985
37
The mutant vasopressin gene from diabetes insipidus (Brattleboro) rats is transcribed but the message is not efficiently translated. 56
6526016 1984
38
Hereditary central diabetes insipidus: plasma levels of antidiuretic hormone in a family with a possible osmoreceptor defect. 56
6498676 1984
39
Vasopressin gene is expressed at low levels in the hypothalamus of the Brattleboro rat. 56
6591192 1984
40
Two cases of hereditary diabetes insipidus, with an autopsy finding in one. 56
6367330 1984
41
Familial central diabetes insipidus: vasopressin and nicotine stimulated neurophysin deficiency with subnormal oxytocin and estrogen stimulated neurophysin. 56
6638059 1983
42
Autoantibodies to vasopressin cells in idiopathic diabetes insipidus: evidence for an autoimmune variant. 6
6132221 1983
43
Hereditary hypothalamic diabetes insipidus in rats (Brattleboro strain). A useful experimental model. 56
6024238 1967
44
Neurohypophysial principles in rats homozygous and heterozygous for hypothalamic diabetes insipidus (Brattleboro strain). 56
5891625 1965
45
Morphology of the neurosecretory system in rats homozygous and heterozygous for hypothalamic diabetes insipidus (Brattleboro strain). 56
5841241 1965
46
HEREDITARY IDIOPATHIC DIABETES INSIPIDUS. A CASE REPORT WITH AUTOPSY FINDINGS. 56
14330594 1965
47
Familial diabetes insipidus. 56
14421660 1959
48
Dominant inheritance of diabetes insipidus; a family study. 56
13037450 1953
49
Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a novel mutation in arginine-vasopressin gene in a Brazilian family. 61 54
19169480 2008
50
[Mutations in the arginine vasopressin neurophysin-II gene in familial neurohypophyseal diabetes insipidus patients]. 61 54
18807739 2008

Variations for Diabetes Insipidus, Neurohypophyseal

ClinVar genetic disease variations for Diabetes Insipidus, Neurohypophyseal:

6 (show all 19) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 AVP NM_000490.5(AVP):c.262G>A (p.Gly88Ser)SNV Pathogenic 12204 rs121964882 20:3063683-3063683 20:3083037-3083037
2 AVP NM_000490.5(AVP):c.143G>T (p.Gly48Val)SNV Pathogenic 12205 rs121964883 20:3063802-3063802 20:3083156-3083156
3 AVP NM_000490.5(AVP):c.55G>A (p.Ala19Thr)SNV Pathogenic 12206 rs387906511 20:3065266-3065266 20:3084620-3084620
4 AVP AVP, 3-BP DEL, NT1824deletion Pathogenic 12207
5 AVP NM_000490.5(AVP):c.294C>A (p.Cys98Ter)SNV Pathogenic 12208 rs121964884 20:3063651-3063651 20:3083005-3083005
6 AVP NM_000490.5(AVP):c.277G>T (p.Gly93Trp)SNV Pathogenic 12209 rs121964885 20:3063668-3063668 20:3083022-3083022
7 AVP AVP, 1-BP DEL, 227Gdeletion Pathogenic 12210
8 AVP NM_000490.5(AVP):c.287G>T (p.Gly96Val)SNV Pathogenic 12211 rs121964886 20:3063658-3063658 20:3083012-3083012
9 AVP NM_000490.5(AVP):c.56C>T (p.Ala19Val)SNV Pathogenic 12212 rs387906512 20:3065265-3065265 20:3084619-3084619
10 AVP NM_000490.5(AVP):c.161G>T (p.Gly54Val)SNV Pathogenic 12213 rs121964887 20:3063784-3063784 20:3083138-3083138
11 AVP NM_000490.5(AVP):c.160G>C (p.Gly54Arg)SNV Pathogenic 12214 rs121964888 20:3063785-3063785 20:3083139-3083139
12 AVP NM_000490.5(AVP):c.337G>T (p.Glu113Ter)SNV Pathogenic 12215 rs121964889 20:3063434-3063434 20:3082788-3082788
13 AVP NM_000490.5(AVP):c.260C>T (p.Ser87Phe)SNV Pathogenic 12216 rs121964890 20:3063685-3063685 20:3083039-3083039
14 AVP NM_000490.5(AVP):c.275G>A (p.Cys92Tyr)SNV Pathogenic 12217 rs121964891 20:3063670-3063670 20:3083024-3083024
15 AVP NM_000490.5(AVP):c.200T>C (p.Val67Ala)SNV Pathogenic 12218 rs28934878 20:3063745-3063745 20:3083099-3083099
16 AVP NM_000490.5(AVP):c.346T>G (p.Cys116Gly)SNV Pathogenic 12220 rs74315383 20:3063425-3063425 20:3082779-3082779
17 AVP NM_000490.5(AVP):c.61T>C (p.Tyr21His)SNV Pathogenic 12221 rs121964893 20:3065260-3065260 20:3084614-3084614
18 AVP AVP, 3-BP DEL, PHE3DELdeletion Pathogenic 12222
19 AVP NM_000490.5(AVP):c.131G>T (p.Cys44Phe)SNV Likely pathogenic 369949 rs1057516192 20:3063814-3063814 20:3083168-3083168

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

73 (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

Expression for Diabetes Insipidus, Neurohypophyseal

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

Pathways for Diabetes Insipidus, Neurohypophyseal

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

# Super pathways Score Top Affiliating Genes
1 11.76 CD1E CD1C CD1B CD1A
2 11.27 CD1E CD1C CD1B CD1A
3 10.98 AVPR2 AVP AQP2
4 10.92 CD1E CD1C CD1B CD1A
5 10.62 PRL POMC

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 extracellular region GO:0005576 9.81 TRH PRL POMC OXT NPTX2 LNPEP
2 endosome GO:0005768 9.65 CD1E CD1C CD1B CD1A AVPR2
3 extracellular space GO:0005615 9.65 PRL POMC OXT IGF1 GNRH1 CD1E
4 secretory granule GO:0030141 9.02 TRH RPH3A POMC OXT AVP

Biological processes related to Diabetes Insipidus, Neurohypophyseal according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.11 TRH PRL POMC OXT IGF1 GNRH1
2 G protein-coupled receptor signaling pathway GO:0007186 10.04 TRH POMC OXT GNRH1 AVPR2 AVP
3 cell-cell signaling GO:0007267 9.77 TRH POMC LNPEP GNRH1 AVP
4 response to organic cyclic compound GO:0014070 9.73 OXT GNRH1 AVP
5 female pregnancy GO:0007565 9.62 PRL OXT LNPEP GNRH1
6 negative regulation of release of cytochrome c from mitochondria GO:0090201 9.58 IGF1 AVP
7 renal water homeostasis GO:0003091 9.56 WFS1 AVPR2 AVP AQP2
8 water transport GO:0006833 9.55 AVP AQP2
9 grooming behavior GO:0007625 9.54 OXT AVP
10 maternal behavior GO:0042711 9.52 OXT AVP
11 positive regulation of systemic arterial blood pressure GO:0003084 9.49 AVPR2 AVP
12 response to prostaglandin E GO:0034695 9.48 OXT GNRH1
13 hyperosmotic salinity response GO:0042538 9.46 OXT AVP
14 positive regulation of T cell mediated cytotoxicity GO:0001916 9.46 CD1E CD1C CD1B CD1A
15 negative regulation of urine volume GO:0035811 9.43 OXT AVPR2
16 maternal aggressive behavior GO:0002125 9.4 OXT AVP
17 antigen processing and presentation, exogenous lipid antigen via MHC class Ib GO:0048007 9.26 CD1E CD1C CD1B CD1A
18 antigen processing and presentation, endogenous lipid antigen via MHC class Ib GO:0048006 8.92 CD1E CD1C CD1B CD1A

Molecular functions related to Diabetes Insipidus, Neurohypophyseal according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipopeptide binding GO:0071723 9.56 CD1E CD1C CD1B CD1A
2 exogenous lipid antigen binding GO:0030884 9.46 CD1E CD1C CD1B CD1A
3 neurohypophyseal hormone activity GO:0005185 9.32 OXT AVP
4 endogenous lipid antigen binding GO:0030883 9.26 CD1E CD1C CD1B CD1A
5 hormone activity GO:0005179 9.17 TRH PRL POMC OXT IGF1 GNRH1

Sources for Diabetes Insipidus, Neurohypophyseal

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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