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NDI
MCID: DBT087
MIFTS: 57

Diabetes Insipidus, Neurohypophyseal (NDI)

Categories: Genetic diseases, Nephrological diseases, Neuronal diseases
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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 42 73 12 38
Neurohypophyseal Diabetes Insipidus 11 42 28 5 14
Vasopressin Defective Diabetes Insipidus 11 42
Diabetes Insipidus, Neurogenic 42 43
Pituitary Diabetes Insipidus 11 42
Central Diabetes Insipidus 42 71
Vasopressin Deficiency 11 42
Cdi 57 73
Diabetes Insipidus Secondary to Vasopressin Deficiency 42
Diabetes Insipidus, Primary Central 57
Primary Central Diabetes Insipidus 73
Diabetes Insipidus, Cranial Type 57
Diabetes Insipidus Cranial Type 73
Neurogenic Diabetes Insipidus 73
Diabetes Insipidus, Pituitary 42
Diabetes Insipidus, Central 42
Ndi 73

Characteristics:


Inheritance:

Autosomal dominant 57

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Nephrological diseases Neuronal diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 11 DOID:12388
OMIM® 57 125700
MeSH 43 D020790
NCIt 49 C84933
SNOMED-CT 68 267393007
MedGen 40 C0687720
UMLS 71 C0687720
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Summaries for Diabetes Insipidus, Neurohypophyseal

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MedlinePlus Genetics: 42 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 central diabetes insipidus and pituitary gland disease, 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 GPCR downstream signalling and Class A/1 (Rhodopsin-like receptors). The drugs Exenatide and Hydrocortisone succinate have been mentioned in the context of this disorder. Affiliated tissues include pituitary, skin and hypothalamus, and related phenotypes are osteopenia and hypertelorism

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 08-Dec-2022)

Disease Ontology: 11 A central diabetes insipidus that is characterized by polyuria and polydipsia due to a deficiency in vasopressin synthesis and that has material basis in heterozygous mutation in the arginine vasopressin gene (AVP) on chromosome 20p13.

UniProtKB/Swiss-Prot: 73 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.
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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 522)
# Related Disease Score Top Affiliating Genes
1 central diabetes insipidus 31.7 POMC OXT NPTX2 AVPR2 AVP AQP2
2 pituitary gland disease 31.2 POMC AVPR2 AVP
3 sheehan syndrome 30.8 POMC AVP
4 pituitary apoplexy 30.8 POMC AVP
5 dipsogenic diabetes insipidus 30.6 NPTX2 AVPR2 AVP AQP2
6 optic nerve hypoplasia, bilateral 30.4 POMC AVP
7 pituitary infarct 30.3 POMC AVP
8 lung oat cell carcinoma 30.3 POMC AVP
9 nephrogenic diabetes insipidus 30.2 REN OXT CLCNKB AVPR2 AVPR1B AVPR1A
10 autosomal dominant polycystic kidney disease 30.0 REN AVPR2 AVP AQP2
11 polycystic kidney disease 30.0 REN AVPR2 AVP AQP2
12 intracranial hypertension 29.9 REN POMC AVP
13 x-linked nephrogenic diabetes insipidus 29.8 AVPR2 AVPR1A AVP AQP2
14 gitelman syndrome 29.7 REN CLCNKB AQP2
15 nephrogenic syndrome of inappropriate antidiuresis 29.5 OXT AVPR2 AVPR1A AVP AQP2
16 polyhydramnios 29.5 REN OXT CLCNKB
17 bartter disease 29.4 REN CLCNKB AVPR2 AVP AQP2
18 conn's syndrome 29.2 REN POMC CLCNKB AVPR2 AVPR1B AVP
19 inappropriate adh syndrome 29.2 REN POMC OXT AVPR2 AVP AQP2
20 hypokalemia 29.1 REN POMC CLCNKB AVPR2 AVP AQP2
21 hypertension, essential 28.7 REN POMC OXT CLCNKB AVPR2 AVP
22 diabetes insipidus 28.6 REN POMC OXT NPTX2 CLCNKB AVPR2
23 hereditary central diabetes insipidus 11.7
24 acquired central diabetes insipidus 11.6
25 diabetes insipidus, neurohypophyseal, x-linked 11.5
26 hypopituitarism, congenital, with central diabetes insipidus 11.5
27 diabetes insipidus, nephrogenic, 1, x-linked 11.4
28 diabetes insipidus, nephrogenic, 2, autosomal 11.0
29 histiocytosis 10.9
30 langerhans cell histiocytosis 10.8
31 hypopituitarism 10.8
32 germinoma 10.7
33 diabetes mellitus 10.6
34 growth hormone deficiency 10.6
35 pituitary hormone deficiency, combined, 2 10.6
36 craniopharyngioma 10.6
37 hypothyroidism 10.6
38 sarcoidosis 1 10.5
39 sarcoidosis 2 10.5
40 premature ovarian failure 7 10.5
41 leukemia, acute myeloid 10.5
42 holoprosencephaly 10.5
43 neurosarcoidosis 10.5
44 acute myeloid leukemia with recurrent genetic anomaly 10.5
45 hydrocephalus 10.5
46 empty sella syndrome 10.5
47 myeloid leukemia 10.5
48 lymphocytic hypophysitis 10.5
49 autoimmune disease 10.4
50 septooptic dysplasia 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:

30 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteopenia 30 HP:0000938
2 hypertelorism 30 HP:0000316
3 short nose 30 HP:0003196
4 long philtrum 30 HP:0000343
5 wide nose 30 HP:0000445
6 central diabetes insipidus 30 HP:0000863
7 gliosis 30 HP:0002171
8 decreased circulating osteocalcin level 30 HP:0031429

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 (Updated 08-Dec-2022)

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 nervous system MP:0003631 9.97 AVP AVPR1A AVPR1B NPTX2 OXT POMC
2 homeostasis/metabolism MP:0005376 9.9 AQP2 AVP AVPR1A AVPR1B AVPR2 CLCNKB
3 renal/urinary system MP:0005367 9.86 AQP2 AVP AVPR2 CLCNKB OXT POMC
4 behavior/neurological MP:0005386 9.7 AQP2 AVP AVPR1A AVPR1B AVPR2 CLCNKB
5 hematopoietic system MP:0005397 9.28 AQP2 AVP AVPR1A AVPR2 CLCNKB POMC
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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 23)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Exenatide Approved, Investigational Phase 4 141758-74-9 45588096
2
Hydrocortisone succinate Approved Phase 4 2203-97-6 3643
3
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
4
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 3640 5754
5 Arginine Vasopressin Phase 4
6 Hypoglycemic Agents Phase 4
7 Hormones Phase 4
8 Hormone Antagonists Phase 4
9 Glucagon-Like Peptide 1 Phase 4
10 Incretins Phase 4
11 Anti-Obesity Agents Phase 4
12 Corticotropin-Releasing Hormone Phase 4
13 Hydrocortisone 17-butyrate 21-propionate Phase 4
14
Arginine Approved, Investigational, Nutraceutical Phase 3 74-79-3 6322
15 Vasopressins Phase 3
16 Hemostatics Phase 3
17 Deamino Arginine Vasopressin Phase 3
18 Coagulants Phase 3
19
Chlorpropamide Approved, Investigational 94-20-2 2727
20
Oxytocin Approved, Vet_approved 50-56-6 439302 53477758
21
Melatonin Approved, Nutraceutical, Vet_approved 73-31-4 896
22 Antioxidants
23 Protective Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Identification and Clinical Relevance of an Oxytocin Deficient State: a Randomized, Crossover, Placebo-controlled, Proof-of-concept, Physiopathological Study (GLP1 Study) Recruiting NCT04897802 Phase 4 Experimental: GLP1-RA (exenatide) administration;Control: Placebo administration
2 Identification and Clinical Relevance of an Oxytocin Deficient State: a Randomized, Crossover, Placebo-controlled, Proof-of-concept Physiopathological Study (CRH Study) Recruiting NCT04902235 Phase 4 Experimental: CRH administration;Control: Placebo administration
3 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
4 Effects of Intranasal Oxytocin in Patients With Central Diabetes Insipidus - A Pilot Study Not yet recruiting NCT04789148 Phase 1 Oxytocin nasal spray
5 Study of the Pathogenesis and Pathophysiology of Familial Neurohypophyseal Diabetes Insipidus Completed NCT00004363 chlorpropamide;desmopressin
6 Copeptin as a Biomarker for Central Diabetes Insipidus Development Following Pituitary Surgery Completed NCT04369703
7 Vasopressin Deficiency in Hemorrhagic Shock Completed NCT01107314
8 Identification of the Posterior Lobe of the Human Pituitary Gland During Surgery Using Its Electrophysiological, Neural Signature Recruiting NCT05338125
9 Seoul National University Pituitary Disease Cohort Study Recruiting NCT03474601
10 Identification and Clinical Relevance of an Oxytocin Deficient State Following Melatonin Administration in Patients With Hypopituitarism: a Proof-of-concept, Physiopathological Study With a Control Group Not yet recruiting NCT05319301

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 28 AVP
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Anatomical Context for Diabetes Insipidus, Neurohypophyseal

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Organs/tissues related to Diabetes Insipidus, Neurohypophyseal:

MalaCards : Pituitary, Skin, Hypothalamus, Bone, Brain, Myeloid, Lung
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Publications for Diabetes Insipidus, Neurohypophyseal

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Articles related to Diabetes Insipidus, Neurohypophyseal:

(show top 50) (show all 1717)
# Title Authors PMID Year
1
A novel mutation in the preprovasopressin gene identified in a kindred with autosomal dominant neurohypophyseal diabetes insipidus. 62 57 5
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. 62 57 5
14673472 2004
3
A murine model of autosomal dominant neurohypophyseal diabetes insipidus reveals progressive loss of vasopressin-producing neurons. 62 57 5
14660745 2003
4
Dominant-negative diabetes insipidus and other endocrinopathies. 62 57
14660740 2003
5
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. 62 57
12679449 2003
6
Autosomal dominant neurohypophyseal diabetes insipidus due to substitution of histidine for tyrosine(2) in the vasopressin moiety of the hormone precursor. 62 5
12107248 2002
7
Effects of aging on vasopressin production in a kindred with autosomal dominant neurohypophyseal diabetes insipidus due to the DeltaE47 neurophysin mutation. 62 5
11836335 2002
8
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. 62 5
11017955 2000
9
Molecular analysis in familial neurohypophyseal diabetes insipidus: early diagnosis of an asymptomatic carrier. 62 5
10487710 1999
10
Autosomal recessive familial neurohypophyseal diabetes insipidus with continued secretion of mutant weakly active vasopressin. 62 57
10369876 1999
11
Effect of a short-term treatment with alendronate on bone density and bone markers in patients with central diabetes insipidus. 62 57
10404801 1999
12
Thickened pituitary stalk on magnetic resonance imaging in children with central diabetes insipidus. 62 57
10372693 1999
13
Mutant vasopressin precursors that cause autosomal dominant neurohypophyseal diabetes insipidus retain dimerization and impair the secretion of wild-type proteins. 62 5
10085151 1999
14
Two novel mutations of the vasopressin gene associated with familial diabetes insipidus and identification of an asymptomatic carrier infant. 62 5
9814475 1998
15
Impairment of bone status in patients with central diabetes insipidus. 62 57
9661594 1998
16
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. 62 5
9580132 1998
17
Identification of mutations of the arginine vasopressin-neurophysin II gene in two kindreds with familial central diabetes insipidus. 62 5
9467595 1998
18
Autosomal dominant neurohypophyseal diabetes insipidus associated with a missense mutation encoding Gly23-->Val in neurophysin II. 62 5
9360520 1997
19
A new type of familial central diabetes insipidus caused by a single base substitution in the neurophysin II coding region of the vasopressin gene. 62 5
8626836 1996
20
Two novel mutations in the coding region for neurophysin-II associated with familial central diabetes insipidus. 62 5
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. 62 5
8103767 1993
22
Familial neurohypophyseal diabetes insipidus associated with a signal peptide mutation. 62 5
8370682 1993
23
Detection of a novel arginine vasopressin defect by dideoxy fingerprinting. 62 5
8370681 1993
24
Possible involvement of inefficient cleavage of preprovasopressin by signal peptidase as a cause for familial central diabetes insipidus. 62 5
8514868 1993
25
A missense mutation in the vasopressin-neurophysin precursor gene cosegregates with human autosomal dominant neurohypophyseal diabetes insipidus. 62 5
1740104 1992
26
A single base substitution in the coding region for neurophysin II associated with familial central diabetes insipidus. 62 5
1840604 1991
27
Molecular analysis of autosomal dominant neurohypophyseal diabetes insipidus. 62 57
1968469 1990
28
Sweat tests in patients with diabetes insipidus. 62 5
3390991 1988
29
Hereditary central diabetes insipidus: plasma levels of antidiuretic hormone in a family with a possible osmoreceptor defect. 62 57
6498676 1984
30
Familial central diabetes insipidus: vasopressin and nicotine stimulated neurophysin deficiency with subnormal oxytocin and estrogen stimulated neurophysin. 62 57
6638059 1983
31
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. 5
11443218 2001
32
Heterologous expression of human vasopressin-neurophysin precursors in a pituitary cell line: defective transport of a mutant protein from patients with familial diabetes insipidus. 5
8945633 1996
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
Familial cranial diabetes insipidus: a report of five families. Genetic, diagnostic and therapeutic aspects. 57
4095258 1985
36
The mutant vasopressin gene from diabetes insipidus (Brattleboro) rats is transcribed but the message is not efficiently translated. 57
6526016 1984
37
Vasopressin gene is expressed at low levels in the hypothalamus of the Brattleboro rat. 57
6591192 1984
38
Two cases of hereditary diabetes insipidus, with an autopsy finding in one. 57
6367330 1984
39
Autoantibodies to vasopressin cells in idiopathic diabetes insipidus: evidence for an autoimmune variant. 5
6132221 1983
40
Hereditary hypothalamic diabetes insipidus in rats (Brattleboro strain). A useful experimental model. 57
6024238 1967
41
Neurohypophysial principles in rats homozygous and heterozygous for hypothalamic diabetes insipidus (Brattleboro strain). 57
5891625 1965
42
Morphology of the neurosecretory system in rats homozygous and heterozygous for hypothalamic diabetes insipidus (Brattleboro strain). 57
5841241 1965
43
HEREDITARY IDIOPATHIC DIABETES INSIPIDUS. A CASE REPORT WITH AUTOPSY FINDINGS. 57
14330594 1965
44
Familial diabetes insipidus. 57
14421660 1959
45
Dominant inheritance of diabetes insipidus; a family study. 57
13037450 1953
46
Characterization of dietary and herbal sourced natural compounds that modulate SEL1L-HRD1 ERAD activity and alleviate protein misfolding in the ER. 62
36228974 2023
47
The clinical and metabolic characteristics of children and adolescents with hypothalamic dysfunction: A single-centre study from China. 62
35978545 2023
48
Machine learning-based algorithm as an innovative approach for the differentiation between diabetes insipidus and primary polydipsia in clinical practice. 62
36201166 2022
49
Serum copeptin levels at day two after pituitary surgery and ratio to baseline predict postoperative central diabetes insipidus. 62
36322283 2022
50
Central Diabetes Insipidus Due to IgG4-related Hypophysitis That Required over One Year to Reach the Final Diagnosis Due to Symptoms Being Masked by Sialadenitis. 62
35569983 2022
Sources

Variations for Diabetes Insipidus, Neurohypophyseal

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ClinVar genetic disease variations for Diabetes Insipidus, Neurohypophyseal:

5 (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 NM_000490.5(AVP):c.294C>A (p.Cys98Ter) SNV Pathogenic
 12208 rs121964884 GRCh37: 20:3063651-3063651
GRCh38: 20:3083005-3083005
4 AVP NM_000490.5(AVP):c.277G>T (p.Gly93Trp) SNV Pathogenic
 12209 rs121964885 GRCh37: 20:3063668-3063668
GRCh38: 20:3083022-3083022
5 AVP NM_000490.5(AVP):c.287G>T (p.Gly96Val) SNV Pathogenic
 12211 rs121964886 GRCh37: 20:3063658-3063658
GRCh38: 20:3083012-3083012
6 AVP NM_000490.5(AVP):c.161G>T (p.Gly54Val) SNV Pathogenic
 12213 rs121964887 GRCh37: 20:3063784-3063784
GRCh38: 20:3083138-3083138
7 AVP NM_000490.5(AVP):c.160G>C (p.Gly54Arg) SNV Pathogenic
 12214 rs121964888 GRCh37: 20:3063785-3063785
GRCh38: 20:3083139-3083139
8 AVP NM_000490.5(AVP):c.337G>T (p.Glu113Ter) SNV Pathogenic
 12215 rs121964889 GRCh37: 20:3063434-3063434
GRCh38: 20:3082788-3082788
9 AVP NM_000490.5(AVP):c.260C>T (p.Ser87Phe) SNV Pathogenic
 12216 rs121964890 GRCh37: 20:3063685-3063685
GRCh38: 20:3083039-3083039
10 AVP NM_000490.5(AVP):c.275G>A (p.Cys92Tyr) SNV Pathogenic
 12217 rs121964891 GRCh37: 20:3063670-3063670
GRCh38: 20:3083024-3083024
11 AVP NM_000490.5(AVP):c.200T>C (p.Val67Ala) SNV Pathogenic
 12218 rs28934878 GRCh37: 20:3063745-3063745
GRCh38: 20:3083099-3083099
12 AVP NM_000490.5(AVP):c.61T>C (p.Tyr21His) SNV Pathogenic
 12221 rs121964893 GRCh37: 20:3065260-3065260
GRCh38: 20:3084614-3084614
13 AVP NM_000490.5(AVP):c.3del (p.Met1fs) DEL Pathogenic
 12210 GRCh37: 20:3065318-3065318
GRCh38: 20:3084672-3084672
14 AVP NM_000490.5(AVP):c.64_66del (p.Phe22del) DEL Pathogenic
 12222 GRCh37: 20:3065255-3065257
GRCh38: 20:3084609-3084611
15 AVP NM_000490.5(AVP):c.347G>A (p.Cys116Tyr) SNV Pathogenic
 1699275 GRCh37: 20:3063424-3063424
GRCh38: 20:3082778-3082778
16 AVP NM_000490.5(AVP):c.55G>A (p.Ala19Thr) SNV Pathogenic
 12206 rs387906511 GRCh37: 20:3065266-3065266
GRCh38: 20:3084620-3084620
17 AVP NM_000490.5(AVP):c.56C>T (p.Ala19Val) SNV Pathogenic
 12212 rs387906512 GRCh37: 20:3065265-3065265
GRCh38: 20:3084619-3084619
18 AVP NM_000490.5(AVP):c.346T>G (p.Cys116Gly) SNV Pathogenic
 12220 rs74315383 GRCh37: 20:3063425-3063425
GRCh38: 20:3082779-3082779
19 AVP NM_000490.5(AVP):c.229GAG[1] (p.Glu78del) MICROSAT Likely Pathogenic
 976038 rs2066119604 GRCh37: 20:3063711-3063713
GRCh38: 20:3083065-3083067
20 AVP NM_000490.5(AVP):c.131G>T (p.Cys44Phe) SNV Likely Pathogenic
 369949 rs1057516192 GRCh37: 20:3063814-3063814
GRCh38: 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

Sources

Expression for Diabetes Insipidus, Neurohypophyseal

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

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Pathways directly related to Diabetes Insipidus, Neurohypophyseal:

# Pathway Source
1 Defective AVP does not bind AVPR2 and causes neurohypophyseal diabetes insipidus (NDI) Reactome 66
2 Defective AVP does not bind AVPR1A,B and causes neurohypophyseal diabetes insipidus (NDI) Reactome 66

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

# Super pathways Score Top Affiliating Genes
1
GPCR downstream signalling 66
Show member pathways
 13.12 POMC OXT AVPR2 AVPR1B AVPR1A AVP
2
Class A/1 (Rhodopsin-like receptors) 66
Show member pathways
 12.86 POMC OXT AVPR2 AVPR1B AVPR1A AVP
3
G alpha (s) signalling events 66
Show member pathways
 11.7 POMC AVPR2 AVP
4
Disorders of transmembrane transporters 66
Show member pathways
 11.69 AVPR2 AVPR1B AVPR1A AVP
5
Aquaporin-mediated transport 66
Show member pathways
 11.37 AVPR2 AVP AQP2
6
Vasopressin-like receptors 66
Show member pathways
 10.06 OXT AVPR2 AVPR1B AVPR1A AVP
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 secretory granule GO:0030141 9.1 POMC OXT AVP

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cytosolic calcium ion concentration GO:0007204 10.16 AVP AVPR1A AVPR1B OXT
2 social behavior GO:0035176 10.07 OXT AVPR1A AVP
3 generation of precursor metabolites and energy GO:0006091 10.04 POMC AVPR1A AVP
4 regulation of blood pressure GO:0008217 9.95 AVPR1A AVPR1B POMC REN
5 grooming behavior GO:0007625 9.93 OXT AVPR1A AVP
6 positive regulation of renal sodium excretion GO:0035815 9.91 OXT AVPR1A
7 drinking behavior GO:0042756 9.91 REN OXT
8 maternal behavior GO:0042711 9.91 OXT AVPR1A AVP
9 positive regulation of prostaglandin biosynthetic process GO:0031394 9.9 AVPR1A AVP
10 sperm ejaculation GO:0042713 9.88 OXT AVPR1A
11 positive regulation of systemic arterial blood pressure GO:0003084 9.88 AVPR2 AVPR1A AVP
12 positive regulation of vasoconstriction GO:0045907 9.86 AVPR2 AVPR1B AVPR1A AVP
13 negative regulation of transmission of nerve impulse GO:0051970 9.85 AVPR1A AVP
14 penile erection GO:0043084 9.84 AVPR1A AVP
15 negative regulation of female receptivity GO:0007621 9.83 AVPR1A AVP
16 cellular response to water deprivation GO:0042631 9.81 AVPR1A AQP2
17 positive regulation of blood pressure GO:0045777 9.8 OXT AVPR2 AVPR1A
18 positive regulation of glutamate secretion GO:0014049 9.77 AVPR1B AVPR1A AVP
19 negative regulation of urine volume GO:0035811 9.75 OXT AVPR2
20 hyperosmotic salinity response GO:0042538 9.72 AVP AVPR1B OXT
21 regulation of systemic arterial blood pressure by vasopressin GO:0001992 9.63 AVPR2 AVPR1B AVPR1A
22 positive regulation of cellular pH reduction GO:0032849 9.35 AVPR1B AVPR1A AVP
23 maternal aggressive behavior GO:0002125 9.1 OXT AVPR1A AVP

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

# Name GO ID Score Top Affiliating Genes
1 peptide binding GO:0042277 9.73 AVPR2 AVPR1B AVPR1A
2 hormone activity GO:0005179 9.62 POMC OXT AVP
3 V1A vasopressin receptor binding GO:0031894 9.46 AVPR1A AVP
4 neurohypophyseal hormone activity GO:0005185 9.26 OXT AVP
5 vasopressin receptor activity GO:0005000 9.1 AVPR2 AVPR1B AVPR1A
Sources

Sources for Diabetes Insipidus, Neurohypophyseal

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2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 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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