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NDI
MCID: DBT087
MIFTS: 58

Diabetes Insipidus, Neurohypophyseal (NDI)

Categories: Endocrine diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Diabetes Insipidus, Neurohypophyseal

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MalaCards integrated aliases for Diabetes Insipidus, Neurohypophyseal:

Name: Diabetes Insipidus, Neurohypophyseal 57 43 72 13 39
Neurohypophyseal Diabetes Insipidus 12 20 43 36 29 6 15
Central Diabetes Insipidus 12 73 20 43 58 54 70
Neurogenic Diabetes Insipidus 20 58 72
Pituitary Diabetes Insipidus 12 20 43
Cdi 57 58 72
Diabetes Insipidus, Neurohypophyseal Type 57 29
Vasopressin Defective Diabetes Insipidus 12 43
Diabetes Insipidus Cranial Type 20 72
Diabetes Insipidus, Neurogenic 43 44
Vasopressin Deficiency 12 43
Diabetes Insipidus Secondary to Vasopressin Deficiency 43
Diabetes Insipidus, Primary Central; Cdi 57
Diabetes Insipidus, Primary Central 57
Diabetes Insipidus Neurohypophyseal 20
Primary Central Diabetes Insipidus 72
Diabetes Insipidus, Cranial Type 57
Diabetes Insipidus Neurogenic 20
Diabetes Insipidus, Pituitary 43
Diabetes Insipidus, Central 43
Ndi 72

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®:

57 (Updated 20-May-2021)
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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare endocrine diseases


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Summaries for Diabetes Insipidus, Neurohypophyseal

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MedlinePlus Genetics : 43 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 hypopituitarism, 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 Peptide ligand-binding receptors and Tight junction. The drugs Vasopressins and Coagulants have been mentioned in the context of this disorder. Affiliated tissues include pituitary, bone and brain, and related phenotypes are failure to thrive and dehydration

GARD : 20 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® : 57 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) (Updated 20-May-2021)

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 : 72 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 : 73 Central diabetes insipidus, also called neurogenic diabetes insipidus, is a type of diabetes insipidus... more...

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Related Diseases for Diabetes Insipidus, Neurohypophyseal

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

(show top 50) (show all 505)
# Related Disease Score Top Affiliating Genes
1 diabetes insipidus, nephrogenic, autosomal 32.1 OXT LNPEP AVPR2 AVP AQP2
2 hypopituitarism 30.9 TRH PRL POMC GNRH1
3 craniopharyngioma 30.8 TRH PRL GNRH1
4 pituitary hormone deficiency, combined, 2 30.8 TRH PRL POMC AVP
5 hypothyroidism 30.7 TRH PRL POMC GNRH1
6 pituitary apoplexy 30.6 PRL POMC GNRH1 AVP
7 pituitary gland disease 30.5 TRH PRL POMC GNRH1 AVP
8 hypokalemia 30.5 POMC AVPR2 AQP2
9 bartter disease 30.4 AVPR2 AVP AQP2
10 hereditary nephrogenic diabetes insipidus 30.4 AVPR2 AQP2
11 septooptic dysplasia 30.3 TRH PRL POMC GNRH1 AVP
12 adenohypophysitis 30.3 TRH PRL POMC
13 hyperprolactinemia 30.2 TRH PRL POMC GNRH1
14 pituitary adenoma 30.2 TRH PRL POMC GNRH1
15 empty sella syndrome 30.2 TRH PRL POMC GNRH1
16 hyperthyroidism 30.1 TRH PRL POMC
17 anorexia nervosa 30.0 PRL POMC OXT
18 amenorrhea 30.0 TRH PRL POMC GNRH1
19 sexual disorder 30.0 PRL POMC OXT GNRH1
20 inappropriate adh syndrome 29.9 POMC OXT AVPR2 AVP AQP2
21 juvenile xanthogranuloma 29.9 CD1E CD1A
22 sheehan syndrome 29.9 TRH PRL POMC AVP
23 graves disease 1 29.8 TRH POMC
24 erdheim-chester disease 29.8 CD1E CD1C CD1B CD1A
25 acromegaly 29.8 TRH PRL POMC GNRH1
26 pituitary infarct 29.6 TRH PRL POMC GNRH1 AVP
27 diabetes insipidus 29.6 WFS1 PRL POMC OXT NPTX2 AVPR2
28 non-langerhans-cell histiocytosis 29.3 CD1E CD1C CD1B CD1A
29 disease of mental health 28.5 TRH PRL POMC PAGR1 OXT NPTX2
30 hypopituitarism, congenital, with central diabetes insipidus 11.4
31 diabetes insipidus, nephrogenic, x-linked 11.4
32 acquired central diabetes insipidus 11.3
33 histiocytosis 10.8
34 langerhans cell histiocytosis 10.8
35 germinoma 10.7
36 hereditary central diabetes insipidus 10.7
37 growth hormone deficiency 10.6
38 sarcoidosis 1 10.5
39 holoprosencephaly 10.5
40 leukemia, acute myeloid 10.5
41 neurosarcoidosis 10.5
42 hydrocephalus 10.5
43 lymphocytic hypophysitis 10.5
44 myeloid leukemia 10.4
45 hypogonadism 10.4
46 traumatic brain injury 10.4
47 ocular motor apraxia 10.4
48 toxoplasmosis 10.4
49 gestational diabetes insipidus 10.4 LNPEP AVP
50 autoimmune disease 10.4

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



Diseases related to Diabetes Insipidus, Neurohypophyseal
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Symptoms & Phenotypes for Diabetes Insipidus, Neurohypophyseal

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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 diabetes insipidus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000873
5 anorexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002039
6 weight loss 58 31 hallmark (90%) Very frequent (99-80%) HP:0001824
7 nocturia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000017
8 depressivity 58 31 frequent (33%) Frequent (79-30%) HP:0000716
9 fever 58 31 frequent (33%) Frequent (79-30%) HP:0001945
10 anxiety 58 31 frequent (33%) Frequent (79-30%) HP:0000739
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 seizures 58 Occasional (29-5%)
19 osteopenia 31 HP:0000938
20 hypertelorism 31 HP:0000316
21 short nose 31 HP:0003196
22 hypokalemia 31 HP:0002900
23 hydronephrosis 31 HP:0000126
24 long philtrum 31 HP:0000343
25 wide nose 31 HP:0000445
26 abnormality of metabolism/homeostasis 31 HP:0001939
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®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

UMLS symptoms related to Diabetes Insipidus, Neurohypophyseal:


polydipsia; polyuria

MGI Mouse Phenotypes related to Diabetes Insipidus, Neurohypophyseal:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 9.17 AQP2 AVP AVPR2 GNRH1 OXT POMC
Sources

Drugs & Therapeutics for Diabetes Insipidus, Neurohypophyseal

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

(show all 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Vasopressins Phase 3
2 Coagulants Phase 3
3 Deamino Arginine Vasopressin Phase 3
4 Hemostatics Phase 3
5
Arginine Investigational, Nutraceutical Phase 3 74-79-3 6322
6
Oxytocin Approved, Vet_approved Phase 1 50-56-6 439302 53477758
7 Arginine Vasopressin Phase 1
8
Chlorpropamide Approved, Investigational 94-20-2 2727
9
Mannitol Approved, Investigational 69-65-8 453 6251
10
Epinephrine Approved, Vet_approved 51-43-4 5816
11
Racepinephrine Approved 329-65-7 838
12
Glucagon Approved 16941-32-5
13 Hypoglycemic Agents
14 Psychotropic Drugs
15 Neurotransmitter Agents
16 Adrenergic Agents
17 Hallucinogens
18 N-Methyl-3,4-methylenedioxyamphetamine
19 Hormones
20 Epinephryl borate
21 Pharmaceutical Solutions
22 Hormone Antagonists
23 Glucagon-Like Peptide 1
24 Gastrointestinal Agents
25
Serotonin Investigational, Nutraceutical 50-67-9 5202

Interventional clinical trials:


# 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 Effects of Intranasal Oxytocin in Patients With Central Diabetes Insipidus - A Pilot Study Not yet recruiting NCT04789148 Phase 1 Oxytocin nasal spray
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 Circulating Oxytocin Changes in Response to the Oxytocin System Stimulator MDMA in Patients With Diabetes Insipidus and Healthy Controls Recruiting NCT04648137
6 Copeptin After a Subcutaneous Stimulation With Glucagon in Adults (Healthy Volunteers and Patients With Diabetes Insipidus or Primary Polydipsia) - The Glucacop-Study Recruiting NCT04550520
7 Copeptin as a Biomarker for Central Diabetes Insipidus Development Following Pituitary Surgery Recruiting NCT04369703
8 Seoul National University Pituitary Disease Cohort Study Recruiting NCT03474601

Search NIH Clinical Center for Diabetes Insipidus, Neurohypophyseal

Cochrane evidence based reviews: diabetes insipidus, neurogenic

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Genetic Tests for Diabetes Insipidus, Neurohypophyseal

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Genetic tests related to Diabetes Insipidus, Neurohypophyseal:

# Genetic test Affiliating Genes
1 Neurohypophyseal Diabetes Insipidus 29 AVP
2 Diabetes Insipidus, Neurohypophyseal Type 29
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Anatomical Context for Diabetes Insipidus, Neurohypophyseal

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MalaCards organs/tissues related to Diabetes Insipidus, Neurohypophyseal:

40
Pituitary, Bone, Brain, Kidney, Myeloid, Thyroid, Hypothalamus
Sources

Publications for Diabetes Insipidus, Neurohypophyseal

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Articles related to Diabetes Insipidus, Neurohypophyseal:

(show top 50) (show all 164)
# Title Authors PMID Year
1
A novel mutation in the preprovasopressin gene identified in a kindred with autosomal dominant neurohypophyseal diabetes insipidus. 6 57 61 54
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. 6 57 61
14673472 2004
3
A murine model of autosomal dominant neurohypophyseal diabetes insipidus reveals progressive loss of vasopressin-producing neurons. 61 6 57
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 6 54
9580132 1998
5
Autosomal dominant neurohypophyseal diabetes insipidus associated with a missense mutation encoding Gly23-->Val in neurophysin II. 6 54 61
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. 6 54 61
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 61 54
8626836 1996
8
Detection of a novel arginine vasopressin defect by dideoxy fingerprinting. 54 6 61
8370681 1993
9
Molecular analysis of autosomal dominant neurohypophyseal diabetes insipidus. 54 61 57
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. 61 6
15356057 2004
11
Dominant-negative diabetes insipidus and other endocrinopathies. 61 57
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. 6 61
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. 6 61
11017955 2000
15
Molecular analysis in familial neurohypophyseal diabetes insipidus: early diagnosis of an asymptomatic carrier. 6 61
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 57
10369876 1999
18
Identification of mutations of the arginine vasopressin-neurophysin II gene in two kindreds with familial central diabetes insipidus. 54 6
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. 6 61
8550751 1996
20
Two novel mutations in the coding region for neurophysin-II associated with familial central diabetes insipidus. 54 6
7714110 1995
21
Glu-47, which forms a salt bridge between neurophysin-II and arginine vasopressin, is deleted in patients with familial central diabetes insipidus. 54 6
8103767 1993
22
Familial neurohypophyseal diabetes insipidus associated with a signal peptide mutation. 61 6
8370682 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. 57
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. 57
10404801 1999
28
Thickened pituitary stalk on magnetic resonance imaging in children with central diabetes insipidus. 57
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. 57
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. 57
1546298 1992
34
Facial dysmorphism: a marker of autosomal dominant cranial diabetes insipidus. 57
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. 57
4095258 1985
37
The mutant vasopressin gene from diabetes insipidus (Brattleboro) rats is transcribed but the message is not efficiently translated. 57
6526016 1984
38
Hereditary central diabetes insipidus: plasma levels of antidiuretic hormone in a family with a possible osmoreceptor defect. 57
6498676 1984
39
Vasopressin gene is expressed at low levels in the hypothalamus of the Brattleboro rat. 57
6591192 1984
40
Two cases of hereditary diabetes insipidus, with an autopsy finding in one. 57
6367330 1984
41
Familial central diabetes insipidus: vasopressin and nicotine stimulated neurophysin deficiency with subnormal oxytocin and estrogen stimulated neurophysin. 57
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. 57
6024238 1967
44
Morphology of the neurosecretory system in rats homozygous and heterozygous for hypothalamic diabetes insipidus (Brattleboro strain). 57
5841241 1965
45
Neurohypophysial principles in rats homozygous and heterozygous for hypothalamic diabetes insipidus (Brattleboro strain). 57
5891625 1965
46
HEREDITARY IDIOPATHIC DIABETES INSIPIDUS. A CASE REPORT WITH AUTOPSY FINDINGS. 57
14330594 1965
47
Familial diabetes insipidus. 57
14421660 1959
48
Dominant inheritance of diabetes insipidus; a family study. 57
13037450 1953
49
Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a novel mutation in arginine-vasopressin gene in a Brazilian family. 54 61
19169480 2008
50
[Mutations in the arginine vasopressin neurophysin-II gene in familial neurohypophyseal diabetes insipidus patients]. 54 61
18807739 2008
Sources

Variations for Diabetes Insipidus, Neurohypophyseal

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ClinVar genetic disease variations for Diabetes Insipidus, Neurohypophyseal:

6 (show all 20)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 AVP NM_000490.5(AVP):c.262G>A (p.Gly88Ser) SNV Pathogenic 12204 rs121964882 GRCh37: 20:3063683-3063683
GRCh38: 20:3083037-3083037
2 AVP NM_000490.5(AVP):c.143G>T (p.Gly48Val) SNV Pathogenic 12205 rs121964883 GRCh37: 20:3063802-3063802
GRCh38: 20:3083156-3083156
3 AVP AVP, 3-BP DEL, NT1824 Deletion Pathogenic 12207 GRCh37:
GRCh38:
4 AVP NM_000490.5(AVP):c.294C>A (p.Cys98Ter) SNV Pathogenic 12208 rs121964884 GRCh37: 20:3063651-3063651
GRCh38: 20:3083005-3083005
5 AVP NM_000490.5(AVP):c.277G>T (p.Gly93Trp) SNV Pathogenic 12209 rs121964885 GRCh37: 20:3063668-3063668
GRCh38: 20:3083022-3083022
6 AVP AVP, 1-BP DEL, 227G Deletion Pathogenic 12210 GRCh37:
GRCh38:
7 AVP NM_000490.5(AVP):c.287G>T (p.Gly96Val) SNV Pathogenic 12211 rs121964886 GRCh37: 20:3063658-3063658
GRCh38: 20:3083012-3083012
8 AVP NM_000490.5(AVP):c.161G>T (p.Gly54Val) SNV Pathogenic 12213 rs121964887 GRCh37: 20:3063784-3063784
GRCh38: 20:3083138-3083138
9 AVP NM_000490.5(AVP):c.160G>C (p.Gly54Arg) SNV Pathogenic 12214 rs121964888 GRCh37: 20:3063785-3063785
GRCh38: 20:3083139-3083139
10 AVP NM_000490.5(AVP):c.337G>T (p.Glu113Ter) SNV Pathogenic 12215 rs121964889 GRCh37: 20:3063434-3063434
GRCh38: 20:3082788-3082788
11 AVP NM_000490.5(AVP):c.260C>T (p.Ser87Phe) SNV Pathogenic 12216 rs121964890 GRCh37: 20:3063685-3063685
GRCh38: 20:3083039-3083039
12 AVP NM_000490.5(AVP):c.275G>A (p.Cys92Tyr) SNV Pathogenic 12217 rs121964891 GRCh37: 20:3063670-3063670
GRCh38: 20:3083024-3083024
13 AVP NM_000490.5(AVP):c.200T>C (p.Val67Ala) SNV Pathogenic 12218 rs28934878 GRCh37: 20:3063745-3063745
GRCh38: 20:3083099-3083099
14 AVP NM_000490.5(AVP):c.346T>G (p.Cys116Gly) SNV Pathogenic 12220 rs74315383 GRCh37: 20:3063425-3063425
GRCh38: 20:3082779-3082779
15 AVP NM_000490.5(AVP):c.61T>C (p.Tyr21His) SNV Pathogenic 12221 rs121964893 GRCh37: 20:3065260-3065260
GRCh38: 20:3084614-3084614
16 AVP AVP, 3-BP DEL, PHE3DEL Deletion Pathogenic 12222 GRCh37:
GRCh38:
17 AVP NM_000490.5(AVP):c.55G>A (p.Ala19Thr) SNV Pathogenic 12206 rs387906511 GRCh37: 20:3065266-3065266
GRCh38: 20:3084620-3084620
18 AVP NM_000490.5(AVP):c.56C>T (p.Ala19Val) SNV Pathogenic 12212 rs387906512 GRCh37: 20:3065265-3065265
GRCh38: 20:3084619-3084619
19 AVP NM_000490.5(AVP):c.131G>T (p.Cys44Phe) SNV Likely pathogenic 369949 rs1057516192 GRCh37: 20:3063814-3063814
GRCh38: 20:3083168-3083168
20 AVP NM_000490.5(AVP):c.229GAG[1] (p.Glu78del) Microsatellite Likely pathogenic 976038 GRCh37: 20:3063711-3063713
GRCh38: 20:3083065-3083067

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

72 (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

Sources

Expression for Diabetes Insipidus, Neurohypophyseal

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

Pathways for Diabetes Insipidus, Neurohypophyseal

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

# Super pathways Score Top Affiliating Genes
1
Peptide ligand-binding receptors 65
Show member pathways
 13.23 TRH PRL POMC OXT GNRH1 AVPR2
2
Tight junction 36
11.79 CD1E CD1C CD1B CD1A
3
G alpha (s) signalling events 65
11.77 POMC AVPR2 AVP
4
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell 65
11.67 CD1C CD1B CD1A
5
Amoebiasis 36
11.27 CD1E CD1C CD1B CD1A
6
Vasopressin-regulated water reabsorption 36
10.98 AVPR2 AVP AQP2
7
Hematopoietic cell lineage 36
10.92 CD1E CD1C CD1B CD1A
8
Antipsychotics Pathway (Metabolic Side Effects), Pharmacodynamics 60
10.62 PRL POMC
Sources

GO Terms for Diabetes Insipidus, Neurohypophyseal

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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 9.86 TRH PRL POMC OXT NPTX2 LNPEP
2 external side of plasma membrane GO:0009897 9.62 CD1E CD1C CD1B CD1A
3 extracellular space GO:0005615 9.61 PRL POMC OXT GNRH1 CD1E CD1C
4 endosome GO:0005768 9.55 CD1E CD1C CD1B CD1A AVPR2
5 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 20)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.11 TRH PRL POMC OXT LNPEP GNRH1
2 G protein-coupled receptor signaling pathway GO:0007186 10.05 TRH POMC OXT GNRH1 AVPR2 AVP
3 response to ethanol GO:0045471 9.74 TRH GNRH1 AVP
4 cell-cell signaling GO:0007267 9.72 TRH POMC LNPEP GNRH1 AVP
5 response to organic cyclic compound GO:0014070 9.71 TRH OXT GNRH1 AVP
6 female pregnancy GO:0007565 9.67 PRL OXT LNPEP GNRH1
7 eating behavior GO:0042755 9.59 TRH OXT
8 positive regulation of blood pressure GO:0045777 9.58 OXT AVPR2
9 water transport GO:0006833 9.56 AVP AQP2
10 renal water homeostasis GO:0003091 9.56 WFS1 AVPR2 AVP AQP2
11 grooming behavior GO:0007625 9.55 OXT AVP
12 positive regulation of systemic arterial blood pressure GO:0003084 9.54 AVPR2 AVP
13 maternal behavior GO:0042711 9.52 OXT AVP
14 response to prostaglandin E GO:0034695 9.49 OXT GNRH1
15 hyperosmotic salinity response GO:0042538 9.48 OXT AVP
16 negative regulation of urine volume GO:0035811 9.46 OXT AVPR2
17 positive regulation of T cell mediated cytotoxicity GO:0001916 9.46 CD1E CD1C CD1B CD1A
18 maternal aggressive behavior GO:0002125 9.43 OXT AVP
19 antigen processing and presentation, exogenous lipid antigen via MHC class Ib GO:0048007 9.26 CD1E CD1C CD1B CD1A
20 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 hormone activity GO:0005179 9.73 TRH PRL POMC OXT GNRH1 AVP
2 lipopeptide binding GO:0071723 9.46 CD1E CD1C CD1B CD1A
3 neurohypophyseal hormone activity GO:0005185 9.32 OXT AVP
4 exogenous lipid antigen binding GO:0030884 9.26 CD1E CD1C CD1B CD1A
5 endogenous lipid antigen binding GO:0030883 8.92 CD1E CD1C CD1B CD1A
Sources

Sources for Diabetes Insipidus, Neurohypophyseal

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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