ANDI
MCID: DBT091
MIFTS: 66

Diabetes Insipidus, Nephrogenic, Autosomal (ANDI)

Categories: Endocrine diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Diabetes Insipidus, Nephrogenic, Autosomal

MalaCards integrated aliases for Diabetes Insipidus, Nephrogenic, Autosomal:

Name: Diabetes Insipidus, Nephrogenic, Autosomal 56 73 39
Nephrogenic Diabetes Insipidus 12 74 52 25 58 29 6 15 71 32
Diabetes Insipidus, Nephrogenic 56 25 13 43
Congenital Nephrogenic Diabetes Insipidus 25 36 71
Vasopressin-Resistant Diabetes Insipidus 12 52 25
Nephrogenic Diabetes Insipidus, Autosomal 29 6
Adh-Resistant Diabetes Insipidus 25 71
Diabetes Insipidus Nephrogenic 52 54
Diabetes Insipidus, Nephrogenic, Type Ii 56
Diabetes Insipidus Nephrogenic X-Linked 52
Diabetes Insipidus, Nephrogenic Type 2 74
Diabetes Insipidus Nephrogenic Type 1 52
Diabetes Insipidus Nephrogenic Type 2 73
Adh Resistant Diabetes Insipidus 52
Diabetes Insipidus Renalis 25
Andi 73
Ndi 25

Characteristics:

Orphanet epidemiological data:

58
nephrogenic diabetes insipidus
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Prevalence: 1-9/1000000 (Europe),1-9/1000000; Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
genetic heterogeneity (see )
onset in first weeks of life
both autosomal dominant and autosomal recessive inheritance have been reported


HPO:

31
diabetes insipidus, nephrogenic, autosomal:
Inheritance autosomal dominant inheritance autosomal recessive inheritance heterogeneous
Onset and clinical course neonatal onset


Classifications:

Orphanet: 58  
Rare renal diseases


Summaries for Diabetes Insipidus, Nephrogenic, Autosomal

Genetics Home Reference : 25 Nephrogenic diabetes insipidus is a disorder of water balance. The body normally balances fluid intake with the excretion of fluid in urine. However, people with nephrogenic diabetes insipidus produce too much urine (polyuria), which causes them to be excessively thirsty (polydipsia). Affected individuals can quickly become dehydrated if they do not drink enough water, especially in hot weather or when they are sick. Nephrogenic diabetes insipidus can be either acquired or hereditary. The acquired form is brought on by certain drugs and chronic diseases and can occur at any time during life. The hereditary form is caused by genetic mutations, and its signs and symptoms usually become apparent within the first few months of life. Infants with hereditary nephrogenic diabetes insipidus may eat poorly and fail to gain weight and grow at the expected rate (failure to thrive). They may also be irritable and experience fevers, diarrhea, and vomiting. Recurrent episodes of dehydration can lead to slow growth and delayed development. If the condition is not well-managed, over time it can damage the bladder and kidneys leading to pain, infections, and kidney failure. With appropriate treatment, affected individuals usually have few complications and a normal lifespan. Nephrogenic 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 nephrogenic diabetes insipidus and diabetes mellitus have some features in common, they are separate disorders with different causes.

MalaCards based summary : Diabetes Insipidus, Nephrogenic, Autosomal, also known as nephrogenic diabetes insipidus, is related to diabetes insipidus, neurohypophyseal and nephrogenic syndrome of inappropriate antidiuresis. An important gene associated with Diabetes Insipidus, Nephrogenic, Autosomal is AQP2 (Aquaporin 2), and among its related pathways/superpathways are Vasopressin-regulated water reabsorption and Nanog in Mammalian ESC Pluripotency. The drugs Lithium carbonate and Antidepressive Agents have been mentioned in the context of this disorder. Affiliated tissues include kidney, testes and pituitary, and related phenotypes are nephrogenic diabetes insipidus and hyposthenuria

Disease Ontology : 12 A kidney disease characterized by a complete or partial resistance of the kidneys to vasopressin (ADH).

NIH Rare Diseases : 52 Nephrogenic diabetes insipidus is a disorder in which a defect in the small tubes (tubules) in the kidneys causes a person to produce a large amount of urine. Nephrogenic diabetes insipidus occurs when the kidney tubules, which allow water to be removed from the body or reabsorbed, do not respond to a chemical in the body called antidiuretic hormone (ADH ) or vasopressin. ADH normally tells the kidneys to make the urine more concentrated. As a result of the defect, the kidneys release an excessive amount of water into the urine, producing a large quantity of very dilute urine. The most common symptoms are frequent urination (p olyuria), especially during nighttime (nocturia), and drinking too much liquids (p olydipsia). It can be either acquired or hereditary. The acquired form is brought on by certain drugs and chronic diseases and can occur at any time during life. About 90% of all cases of hereditary nephrogenic diabetes insipidus result from mutations in the AVPR2 gene , and about 10% of cases are caused by mutations in the AQP2 gene. Treatment consists of plenty of water intake; medication, such as thiazide diuretics and NSAIDs; and a low-salt, low-protein diet.

OMIM : 56 Nephrogenic diabetes insipidus is caused by the inability of the renal collecting ducts to absorb water in response to antidiuretic hormone (ADH), also known as arginine vasopressin (AVP; 192340). Approximately 90% of patients are males with the X-linked recessive form, type I (304800), which is caused by mutation in the gene encoding the vasopressin V2 receptor (AVPR2; 300538). The remaining 10% of patients have the autosomal form, type II, caused by mutation in the AQP2 gene (Morello and Bichet, 2001). Neurogenic, or central, diabetes insipidus (CDI; 125700) is caused by mutation in the gene encoding arginine vasopressin, located on 20p13. (125800)

KEGG : 36 Nephrogenic diabetes insipidus (NDI) is characterized by renal insensitivity to the antidiuretic effect of arginine vasopressin.

UniProtKB/Swiss-Prot : 73 Diabetes insipidus, nephrogenic, autosomal: A disorder caused by the inability of the renal collecting ducts to absorb water in response to arginine vasopressin. Characterized by excessive water drinking (polydipsia), excessive urine excretion (polyuria), persistent hypotonic urine, and hypokalemia. Inheritance can be autosomal dominant or recessive.

Wikipedia : 74 Nephrogenic diabetes insipidus (NDI) is a form of diabetes insipidus primarily due to pathology of the... more...

Related Diseases for Diabetes Insipidus, Nephrogenic, Autosomal

Diseases in the Hereditary Nephrogenic Diabetes Insipidus family:

Diabetes Insipidus, Nephrogenic, Autosomal

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

(show top 50) (show all 263)
# Related Disease Score Top Affiliating Genes
1 diabetes insipidus, neurohypophyseal 32.3 OXT LNPEP AVPR2 AVP AQP2
2 nephrogenic syndrome of inappropriate antidiuresis 31.3 AVPR2 AVP
3 bartter disease 31.1 SLC12A1 CLCNKA CASR AVP AQP2
4 hereditary nephrogenic diabetes insipidus 31.0 AVPR2 AQP2
5 bartter syndrome, type 1, antenatal 31.0 SLC12A1 CASR AQP2
6 polycystic kidney disease 30.9 AVPR2 AVP AQP2 AQP1
7 diabetes insipidus 30.8 SLC12A1 OXT CLCNKA AVPR2 AVP ARHGAP4
8 hypokalemia 30.8 SLC12A1 CASR AVPR2 AQP2
9 hydrocephalus 30.8 L1CAM AVPR2 AQP4 AQP1
10 intraocular pressure quantitative trait locus 30.6 MIP AQP4 AQP1
11 polyhydramnios 30.5 SLC12A1 OXT CLCNKA CFAP47 AQP3 AQP1
12 central pontine myelinolysis 30.5 AVPR2 AVP AQP4 AQP2 AQP1
13 diabetes insipidus, nephrogenic, with mental retardation and intracerebral calcification 12.6
14 diabetes insipidus, nephrogenic, x-linked 12.2
15 diabetes mellitus 10.9
16 fanconi renotubular syndrome 2 10.6
17 fanconi syndrome 10.6
18 gestational diabetes insipidus 10.5 LNPEP AVP
19 distal renal tubular acidosis 10.5
20 idiopathic edema 10.5 AQP2 AQP1
21 subependymoma 10.5 AQP4 AQP1
22 autoimmune optic neuritis 10.5 MIP AQP4
23 hepatorenal syndrome 10.5 AVP AQP2 AQP1
24 nephrocalcinosis 10.5
25 hyperparathyroidism 10.5
26 bartter syndrome, type 2, antenatal 10.4 SLC12A1 CASR
27 sheehan syndrome 10.4 LNPEP AVP
28 dysferlinopathy 10.4 MIP AQP4 AQP1
29 kidney disease 10.4
30 pompholyx 10.4 AQP3 AQP10
31 mineral metabolism disease 10.4 SLC12A1 CASR AVP
32 supine hypotensive syndrome 10.4 OXT AVP
33 subleukemic leukemia 10.4 OXT AVP
34 intracranial hypertension 10.4 AVP AQP4 AQP1
35 ocular motor apraxia 10.4
36 primary hyperparathyroidism 10.4
37 acoustic neuroma 10.4 AQP6 AQP4 AQP1
38 neuroma 10.4 AQP6 AQP4 AQP1
39 gitelman syndrome 10.4 SLC12A1 CLCNKA CASR
40 peripheral vertigo 10.4 AVP AQP6 AQP2 AQP1
41 hydrops, lactic acidosis, and sideroblastic anemia 10.4 MIP AQP4
42 brain edema 10.4 MIP AQP4 AQP1
43 cerebral degeneration 10.4 L1CAM AQP4 AQP1
44 inner ear disease 10.3 MIP AQP6 AQP1
45 pyelonephritis 10.3
46 constipation 10.3
47 acute kidney failure 10.3
48 aminoaciduria 10.3
49 dipsogenic diabetes insipidus 10.3
50 hereditary hypophosphatemic rickets 10.3

Comorbidity relations with Diabetes Insipidus, Nephrogenic, Autosomal via Phenotypic Disease Network (PDN):


Acute Cystitis Bipolar Disorder
Diabetes Insipidus

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



Diseases related to Diabetes Insipidus, Nephrogenic, Autosomal

Symptoms & Phenotypes for Diabetes Insipidus, Nephrogenic, Autosomal

Human phenotypes related to Diabetes Insipidus, Nephrogenic, Autosomal:

58 31 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nephrogenic diabetes insipidus 58 31 obligate (100%) Obligate (100%) HP:0009806
2 hyposthenuria 58 31 hallmark (90%) Very frequent (99-80%) HP:0003158
3 hypernatremia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003228
4 hypernatremic dehydration 58 31 hallmark (90%) Very frequent (99-80%) HP:0004906
5 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
6 polydipsia 58 31 frequent (33%) Frequent (79-30%) HP:0001959
7 fever 58 31 frequent (33%) Frequent (79-30%) HP:0001945
8 nausea and vomiting 58 31 frequent (33%) Frequent (79-30%) HP:0002017
9 anorexia 58 31 frequent (33%) Frequent (79-30%) HP:0002039
10 constipation 58 31 frequent (33%) Frequent (79-30%) HP:0002019
11 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
12 renal insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0000083
13 feeding difficulties 58 31 occasional (7.5%) Occasional (29-5%) HP:0011968
14 hydroureter 58 31 occasional (7.5%) Occasional (29-5%) HP:0000072
15 hypovolemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0011106
16 seizure 31 occasional (7.5%) HP:0001250
17 global developmental delay 58 31 very rare (1%) Very rare (<4-1%) HP:0001263
18 polyhydramnios 58 31 very rare (1%) Very rare (<4-1%) HP:0001561
19 enuresis nocturna 58 31 very rare (1%) Very rare (<4-1%) HP:0010677
20 intellectual disability 31 HP:0001249
21 seizures 58 Occasional (29-5%)
22 feeding difficulties in infancy 31 HP:0008872
23 vomiting 31 HP:0002013
24 irritability 31 HP:0000737
25 growth delay 58 Occasional (29-5%)
26 unexplained fevers 31 HP:0001955
27 megacystis 31 HP:0000021
28 functional abnormality of the bladder 58 Occasional (29-5%)
29 polyuria 31 HP:0000103
30 hypertonic dehydration 31 HP:0001986

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
mental retardation can occur in patients with repeated episodes of dehydration

Growth Other:
failure to thrive

Neurologic Behavioral Psychiatric Manifestations:
irritability

Laboratory Abnormalities:
hypernatremia
high serum osmolality
inappropriately low urine osmolality
normal or increased levels of serum arginine vasopressin (antidiuretic hormone, )
normal extrarenal responses to ddavp administration
more
Genitourinary Bladder:
lower urinary tract dilatation may occur over time

Growth Height:
short stature

Abdomen Gastrointestinal:
polydipsia
vomiting
constipation
poor feeding

Metabolic Features:
unexplained fevers
hypertonic dehydration

Genitourinary Kidneys:
polyuria

Clinical features from OMIM:

125800

MGI Mouse Phenotypes related to Diabetes Insipidus, Nephrogenic, Autosomal:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.1 AQP1 AQP2 AQP3 AQP4 AVP AVPR2
2 growth/size/body region MP:0005378 10.07 AQP1 AQP11 AQP2 AQP3 AQP4 AQP7
3 homeostasis/metabolism MP:0005376 9.97 AQP1 AQP11 AQP2 AQP3 AQP4 AQP7
4 renal/urinary system MP:0005367 9.77 AQP1 AQP11 AQP2 AQP3 AQP4 AQP6
5 vision/eye MP:0005391 9.23 AQP1 AQP11 AQP3 AQP4 AQP6 CASR

Drugs & Therapeutics for Diabetes Insipidus, Nephrogenic, Autosomal

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

(show all 47)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lithium carbonate Approved Phase 4 554-13-2
2 Antidepressive Agents Phase 4
3 Psychotropic Drugs Phase 4
4
Atorvastatin Approved Phase 2 134523-00-5 60823
5 Hypolipidemic Agents Phase 2
6 Anticholesteremic Agents Phase 2
7 Lipid Regulating Agents Phase 2
8 Antimetabolites Phase 2
9
Metformin Approved Phase 1 657-24-9 14219 4091
10 Hypoglycemic Agents Phase 1
11
Chlorothiazide Approved, Vet_approved 58-94-6 2720
12
Salmon calcitonin Approved, Investigational 47931-85-1 16129616
13
Amiloride Approved 2016-88-8, 2609-46-3 16231
14
Sodium citrate Approved, Investigational 68-04-2
15
Hydrochlorothiazide Approved, Vet_approved 58-93-5 3639
16
Indomethacin Approved, Investigational 53-86-1 3715
17
Lovastatin Approved, Investigational 75330-75-5 53232
18
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
19
Calcitonin gene-related peptide Investigational 83652-28-2
20 Sodium Chloride Symporter Inhibitors
21 Antihypertensive Agents
22 diuretics
23 Arginine Vasopressin
24 Sodium Channel Blockers
25 Phosphodiesterase 5 Inhibitors
26 Phosphodiesterase Inhibitors
27 Hormones
28 Citrate
29 Vasodilator Agents
30 Amiloride, hydrochlorothiazide drug combination
31 Diuretics, Potassium Sparing
32 Analgesics, Non-Narcotic
33 Sildenafil Citrate 171599-83-0
34 Vasopressins
35 Tocolytic Agents
36 Analgesics
37 Cyclooxygenase Inhibitors
38 Calcium, Dietary
39 Antirheumatic Agents
40 Anti-Inflammatory Agents
41 calcitonin
42 Katacalcin
43 Anti-Inflammatory Agents, Non-Steroidal
44 Hydroxymethylglutaryl-CoA Reductase Inhibitors
45 Dihydromevinolin
46 L 647318
47
Calcium Nutraceutical 7440-70-2 271

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effect of Regulated Add -on Sodium Chloride Intake on Stabilization of Serum Lithium Concentration in Bipolar Disorder: A Randomized Controlled Trial Recruiting NCT04222816 Phase 4 Lithium Carbonate;Sodium chloride
2 Atorvastatin for the Treatment of Lithium-Induced Nephrogenic Diabetes Insipidus: A Randomized Controlled Trial Unknown status NCT02967653 Phase 2 Atorvastatin
3 Use of Metformin to Treat Patients With Congenital Nephrogenic Diabetes Insipidus (NDI) Terminated NCT02460354 Phase 1 Metformin
4 Study of Genotype and Phenotype Expression in Congenital Nephrogenic Diabetes Insipidus Completed NCT00004360 chlorothiazide
5 Pharmacologic Treatment of Congenital Nephrogenic Diabetes Insipidus Completed NCT00478335 sildenafil;calcitonin;hydrochlorothiazide/amiloride;indomethacin;Placebo for sildenafil;placebo for calcitonin
6 Study of Idiopathic Edema Completed NCT01681927
7 Copeptin in the Diagnosis and Differential Diagnosis of Diabetes Insipidus. The CoSIP-Study Completed NCT00757276
8 Urinary AQP2 Excretion in Hypercholesterolemic Patients as a Measure of Effect of Statin Therapy Completed NCT02523001
9 Wishing to Decrease Aquaresis in ADPKD Patients Treated With a V2Ra; the Effect of Regulating Protein and Salt Not yet recruiting NCT04310319

Search NIH Clinical Center for Diabetes Insipidus, Nephrogenic, Autosomal

Cochrane evidence based reviews: diabetes insipidus, nephrogenic

Genetic Tests for Diabetes Insipidus, Nephrogenic, Autosomal

Genetic tests related to Diabetes Insipidus, Nephrogenic, Autosomal:

# Genetic test Affiliating Genes
1 Nephrogenic Diabetes Insipidus, Autosomal 29 AQP2
2 Nephrogenic Diabetes Insipidus 29

Anatomical Context for Diabetes Insipidus, Nephrogenic, Autosomal

MalaCards organs/tissues related to Diabetes Insipidus, Nephrogenic, Autosomal:

40
Kidney, Testes, Pituitary, Bone, Brain, Liver, Lung

Publications for Diabetes Insipidus, Nephrogenic, Autosomal

Articles related to Diabetes Insipidus, Nephrogenic, Autosomal:

(show top 50) (show all 1378)
# Title Authors PMID Year
1
Nephrogenic diabetes insipidus in North America. The Hopewell hypothesis. 61 56 6
4886456 1969
2
Diverse vasopressin V2 receptor functionality underlying partial congenital nephrogenic diabetes insipidus. 6 54 61
19812297 2009
3
Nephrogenic diabetes insipidus. 56 61 54
11181969 2001
4
Functional characterization of the molecular defects causing nephrogenic diabetes insipidus in eight families. 61 54 6
10770218 2000
5
Functional studies of twelve mutant V2 vasopressin receptors related to nephrogenic diabetes insipidus: molecular basis of a mild clinical phenotype. 6 61 54
9773787 1998
6
V2 vasopressin receptor dysfunction in nephrogenic diabetes insipidus caused by different molecular mechanisms. 61 54 6
9711877 1998
7
Mutations in the vasopressin V2 receptor and aquaporin-2 genes in 12 families with congenital nephrogenic diabetes insipidus. 61 54 6
9402087 1997
8
An X-linked NDI mutation reveals a requirement for cell surface V2R expression. 54 61 6
9171234 1997
9
Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus. 6 54 61
8037205 1994
10
Heterogeneous AVPR2 gene mutations in congenital nephrogenic diabetes insipidus. 61 54 6
7913579 1994
11
A Null mutation in the vasopressin V2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus in the Hopewell kindred. 54 61 6
8401502 1993
12
X-linked nephrogenic diabetes insipidus: from the ship Hopewell to RFLP studies. 56 54 61
1357965 1992
13
Mutations in the vasopressin type 2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus. 6 54 61
1303271 1992
14
Novel mutations underlying nephrogenic diabetes insipidus in Arab families. 61 56
16845277 2006
15
Congenital nephrogenic diabetes insipidus presented with bilateral hydronephrosis: genetic analysis of V2R gene mutations. 6 61
16502494 2006
16
Two novel mutations in the aquaporin 2 gene in a girl with congenital nephrogenic diabetes insipidus. 61 6
16361827 2005
17
Constitutive arrestin-mediated desensitization of a human vasopressin receptor mutant associated with nephrogenic diabetes insipidus. 6 61
11134505 2001
18
The property of a novel v2 receptor mutant in a patient with nephrogenic diabetes insipidus. 61 6
11232028 2001
19
Hereditary Nephrogenic Diabetes Insipidus 61 6
20301356 2000
20
An aquaporin-2 water channel mutant which causes autosomal dominant nephrogenic diabetes insipidus is retained in the Golgi complex. 61 56
9649557 1998
21
Biochemical basis of partial nephrogenic diabetes insipidus phenotypes. 61 6
9369448 1997
22
Detection of skewed X-inactivation in two female carriers of vasopressin type 2 receptor gene mutation. 6 61
9329382 1997
23
A low-affinity vasopressin V2-receptor gene in a kindred with X-linked nephrogenic diabetes insipidus. 6 61
8704106 1996
24
Proposed cause of marked vasopressin resistance in a female with an X-linked recessive V2 receptor abnormality. 61 6
7714087 1995
25
Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin 2 water-channel gene. 61 56
7524315 1994
26
Nephrogenic diabetes insipidus: an X chromosome-linked dominant inheritance pattern with a vasopressin type 2 receptor gene that is structurally normal. 6 61
8078903 1994
27
Inheritance of mutations in the V2 receptor gene in thirteen families with nephrogenic diabetes insipidus. 6 61
7933835 1994
28
Requirement of human renal water channel aquaporin-2 for vasopressin-dependent concentration of urine. 56 61
8140421 1994
29
X-linked nephrogenic diabetes insipidus mutations in North America and the Hopewell hypothesis. 61 6
8104196 1993
30
Brief report: a molecular defect in the vasopressin V2-receptor gene causing nephrogenic diabetes insipidus. 6 61
8479490 1993
31
Brief report: a mutation in the vasopressin V2-receptor gene in a kindred with X-linked nephrogenic diabetes insipidus. 6 61
8479491 1993
32
Mutations in the V2 vasopressin receptor gene are associated with X-linked nephrogenic diabetes insipidus. 6 61
1303257 1992
33
Molecular identification of the gene responsible for congenital nephrogenic diabetes insipidus. 61 6
1356229 1992
34
A variant of nephrogenic diabetes insipidus: V2 receptor abnormality restricted to the kidney. 61 56
1828422 1991
35
Autosomal recessive inheritance of vasopressin-resistant diabetes insipidus. 56 61
1672792 1991
36
Two distinct pathophysiological mechanisms in congenital nephrogenic diabetes insipidus. 61 56
3131381 1988
37
Familial cases of congenital nephrogenic diabetes insipidus type II: Remarkable increment of urinary adenosine 3',5'-monophosphate in response to antidiuretic hormone. 61 56
6323666 1984
38
Progressive hydronephrosis, hydroureter, and dilatation of the bladder in siblings with congenital nephrogenic diabetes insipidus. 56 61
5502093 1970
39
Nephrogenic diabetes insipidus: absence of close linkage with Xg. 61 6
5309332 1970
40
Nephrogenic syndrome of inappropriate antidiuresis. 6
15872203 2005
41
Demonstration of a defect in the formation of adenosine 3',5'-monophosphate in vasopressin-resistant diabetes insipidus. 56
4362729 1974
42
Hereditary diabetes insipidus: report of 20 cases in seven generations. 56
14367471 1955
43
Hereditary diabetes insipidus: unusual urinary tract changes. 56
14785081 1950
44
A novel mutation in the AVPR2 gene (222delA) associated with X-linked nephrogenic diabetes insipidus in a boy with growth failure. 54 61
19703807 2010
45
Functional characterization of vasopressin receptor 2 mutations causing partial and complete congenital nephrogenic diabetes insipidus in Thai families. 61 54
20389105 2010
46
Effect of the cGMP pathway on AQP2 expression and translocation: potential implications for nephrogenic diabetes insipidus. 61 54
19666909 2010
47
Repulsion between Lys258 and upstream arginines explains the missorting of the AQP2 mutant p.Glu258Lys in nephrogenic diabetes insipidus. 54 61
19701945 2009
48
p.R254Q mutation in the aquaporin-2 water channel causing dominant nephrogenic diabetes insipidus is due to a lack of arginine vasopressin-induced phosphorylation. 61 54
19585583 2009
49
Identification, characterization and rescue of a novel vasopressin-2 receptor mutation causing nephrogenic diabetes insipidus. 61 54
19170711 2009
50
Characterization of D150E and G196D aquaporin-2 mutations responsible for nephrogenic diabetes insipidus: importance of a mild phenotype. 54 61
19458121 2009

Variations for Diabetes Insipidus, Nephrogenic, Autosomal

ClinVar genetic disease variations for Diabetes Insipidus, Nephrogenic, Autosomal:

6 (show top 50) (show all 124) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 AVPR2 NM_000054.6(AVPR2):c.614A>G (p.Tyr205Cys)SNV Pathogenic 10838 rs104894749 X:153171574-153171574 X:153906120-153906120
2 AVPR2 NM_000054.6(AVPR2):c.310C>T (p.Arg104Cys)SNV Pathogenic 10853 rs104894760 X:153171270-153171270 X:153905816-153905816
3 AQP2 NM_000486.5(AQP2):c.559C>T (p.Arg187Cys)SNV Pathogenic 17828 rs104894328 12:50348446-50348446 12:49954663-49954663
4 AQP2 NM_000486.5(AQP2):c.439G>A (p.Ala147Thr)SNV Pathogenic 17832 rs104894334 12:50348016-50348016 12:49954233-49954233
5 AVPR2 NM_000054.6(AVPR2):c.838dup (p.Tyr280fs)duplication Pathogenic 35747 rs193922121 X:153171797-153171798 X:153906343-153906344
6 AVPR2 NM_000054.6(AVPR2):c.554del (p.Gly185fs)deletion Pathogenic/Likely pathogenic 35742 rs193922116 X:153171513-153171513 X:153906059-153906059
7 AVPR2 NM_000054.6(AVPR2):c.673C>T (p.Gln225Ter)SNV Likely pathogenic 35743 rs193922117 X:153171633-153171633 X:153906179-153906179
8 AVPR2 NM_000054.6(AVPR2):c.752_758del (p.Arg251fs)deletion Likely pathogenic 35744 rs193922118 X:153171708-153171714 X:153906254-153906260
9 AVPR2 NM_000054.6(AVPR2):c.770del (p.Gly257fs)deletion Likely pathogenic 35745 rs193922119 X:153171729-153171729 X:153906275-153906275
10 AVPR2 NM_000054.6(AVPR2):c.819_821del (p.Leu274del)deletion Likely pathogenic 35746 rs193922120 X:153171779-153171781 X:153906325-153906327
11 AQP2 NM_000486.5(AQP2):c.560G>A (p.Arg187His)SNV Likely pathogenic 35695 rs193922495 12:50348447-50348447 12:49954664-49954664
12 AQP2 NM_000486.5(AQP2):c.785del (p.Pro262fs)deletion Likely pathogenic 35696 rs193922496 12:50349359-50349359 12:49955576-49955576
13 AVPR2 NM_000054.6(AVPR2):c.176T>C (p.Leu59Pro)SNV Likely pathogenic 35737 rs193922112 X:153171136-153171136 X:153905682-153905682
14 AVPR2 NM_000054.6(AVPR2):c.290T>C (p.Leu97Pro)SNV Likely pathogenic 35738 rs193922113 X:153171250-153171250 X:153905796-153905796
15 AVPR2 NM_000054.6(AVPR2):c.409C>G (p.Arg137Gly)SNV Likely pathogenic 35739 rs104894761 X:153171369-153171369 X:153905915-153905915
16 AVPR2 NM_000054.6(AVPR2):c.424del (p.Cys142fs)deletion Likely pathogenic 35740 rs193922114 X:153171384-153171384 X:153905930-153905930
17 AVPR2 NM_000054.6(AVPR2):c.472del (p.Arg158fs)deletion Likely pathogenic 35741 rs193922115 X:153171431-153171431 X:153905977-153905977
18 AVPR2 NM_000054.6(AVPR2):c.853G>C (p.Ala285Pro)SNV Likely pathogenic 35748 rs193922122 X:153171813-153171813 X:153906359-153906359
19 AVPR2 NM_000054.6(AVPR2):c.963C>A (p.Asn321Lys)SNV Likely pathogenic 35749 rs193922123 X:153172029-153172029 X:153906575-153906575
20 AQP2 NM_000486.5(AQP2):c.223T>G (p.Cys75Gly)SNV Likely pathogenic 35693 rs193922494 12:50344836-50344836 12:49951053-49951053
21 AQP2 NM_000486.6(AQP2):c.526-1G>TSNV Likely pathogenic 828116 12:50348412-50348412 12:49954629-49954629
22 AQP2 NM_000486.5(AQP2):c.563C>T (p.Ser188Phe)SNV Likely pathogenic 430573 rs1131690792 12:50348450-50348450 12:49954667-49954667
23 AQP2 NM_000486.5(AQP2):c.450T>A (p.Asp150Glu)SNV Likely pathogenic 441134 rs770932012 12:50348027-50348027 12:49954244-49954244
24 AQP2 NM_000486.5(AQP2):c.579C>T (p.Val193=)SNV Conflicting interpretations of pathogenicity 718766 12:50348466-50348466 12:49954683-49954683
25 AQP2 NM_000486.5(AQP2):c.141G>A (p.Ala47=)SNV Conflicting interpretations of pathogenicity 733227 12:50344754-50344754 12:49950971-49950971
26 AQP2 NM_000486.5(AQP2):c.471G>A (p.Pro157=)SNV Conflicting interpretations of pathogenicity 737819 12:50348048-50348048 12:49954265-49954265
27 AQP2 NM_000486.5(AQP2):c.189C>T (p.Ser63=)SNV Conflicting interpretations of pathogenicity 763310 12:50344802-50344802 12:49951019-49951019
28 AQP2 NM_000486.5(AQP2):c.246C>T (p.Ser82=)SNV Conflicting interpretations of pathogenicity 766357 12:50344859-50344859 12:49951076-49951076
29 AQP2 NM_000486.5(AQP2):c.70G>A (p.Val24Ile)SNV Conflicting interpretations of pathogenicity 309232 rs200706192 12:50344683-50344683 12:49950900-49950900
30 AQP2 NM_000486.5(AQP2):c.607-12G>TSNV Uncertain significance 309235 rs761776136 12:50349170-50349170 12:49955387-49955387
31 AQP2 NM_000486.5(AQP2):c.*103A>GSNV Uncertain significance 309237 rs886049544 12:50349494-50349494 12:49955711-49955711
32 AQP2 NM_000486.5(AQP2):c.*485C>TSNV Uncertain significance 309242 rs886049545 12:50349876-50349876 12:49956093-49956093
33 AQP2 NM_000486.5(AQP2):c.*640T>CSNV Uncertain significance 309243 rs569905754 12:50350031-50350031 12:49956248-49956248
34 AQP2 NM_000486.5(AQP2):c.*842C>TSNV Uncertain significance 309244 rs886049546 12:50350233-50350233 12:49956450-49956450
35 AQP2 NM_000486.5(AQP2):c.*888G>TSNV Uncertain significance 309245 rs886049547 12:50350279-50350279 12:49956496-49956496
36 AQP2 NM_000486.5(AQP2):c.*976A>GSNV Uncertain significance 309248 rs372756747 12:50350367-50350367 12:49956584-49956584
37 AQP2 NM_000486.5(AQP2):c.*1207T>CSNV Uncertain significance 309250 rs886049550 12:50350598-50350598 12:49956815-49956815
38 AQP2 NM_000486.5(AQP2):c.*2616G>ASNV Uncertain significance 309265 rs563819167 12:50352007-50352007 12:49958224-49958224
39 AQP2 NM_000486.5(AQP2):c.*2938C>TSNV Uncertain significance 309269 rs886049554 12:50352329-50352329 12:49958546-49958546
40 AQP2 NM_000486.5(AQP2):c.*3161A>GSNV Uncertain significance 309273 rs776879353 12:50352552-50352552 12:49958769-49958769
41 AQP2 NM_000486.5(AQP2):c.*3190G>ASNV Uncertain significance 309275 rs535624647 12:50352581-50352581 12:49958798-49958798
42 AQP2 NM_000486.5(AQP2):c.-75G>TSNV Uncertain significance 309230 rs149553671 12:50344539-50344539 12:49950756-49950756
43 AQP2 NM_000486.5(AQP2):c.390G>C (p.Ala130=)SNV Uncertain significance 309233 rs139064235 12:50347967-50347967 12:49954184-49954184
44 AQP2 NM_000486.5(AQP2):c.*57G>ASNV Uncertain significance 309236 rs886049543 12:50349448-50349448 12:49955665-49955665
45 AQP2 NM_000486.5(AQP2):c.*3081C>TSNV Uncertain significance 309271 rs886049555 12:50352472-50352472 12:49958689-49958689
46 AQP2 NM_000486.5(AQP2):c.526-5T>GSNV Uncertain significance 309234 rs780168218 12:50348408-50348408 12:49954625-49954625
47 AQP2 NM_000486.5(AQP2):c.*3153T>GSNV Uncertain significance 309272 rs886049556 12:50352544-50352544 12:49958761-49958761
48 AQP2 NM_000486.5(AQP2):c.*118C>TSNV Uncertain significance 309238 rs536142604 12:50349509-50349509 12:49955726-49955726
49 AQP2 NM_000486.5(AQP2):c.*1081C>ASNV Uncertain significance 309249 rs886049549 12:50350472-50350472 12:49956689-49956689
50 AQP2 NM_000486.5(AQP2):c.*943A>CSNV Uncertain significance 309247 rs886049548 12:50350334-50350334 12:49956551-49956551

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

73 (show all 28)
# Symbol AA change Variation ID SNP ID
1 AQP2 p.Gly64Arg VAR_004401 rs104894326
2 AQP2 p.Arg187Cys VAR_004402 rs104894328
3 AQP2 p.Ser216Pro VAR_004403 rs104894329
4 AQP2 p.Leu22Val VAR_015239 rs104894336
5 AQP2 p.Leu28Pro VAR_015240
6 AQP2 p.Ala47Val VAR_015241 rs995684800
7 AQP2 p.Asn68Ser VAR_015242 rs104894331
8 AQP2 p.Val71Met VAR_015243 rs149659001
9 AQP2 p.Thr125Met VAR_015244 rs104894333
10 AQP2 p.Thr126Met VAR_015245 rs104894330
11 AQP2 p.Ala147Thr VAR_015246 rs104894334
12 AQP2 p.Val168Met VAR_015247 rs755694590
13 AQP2 p.Gly175Arg VAR_015248 rs104894335
14 AQP2 p.Cys181Trp VAR_015249 rs104894337
15 AQP2 p.Pro185Ala VAR_015250 rs761713751
16 AQP2 p.Ala190Thr VAR_015251 rs104894341
17 AQP2 p.Trp202Cys VAR_015253
18 AQP2 p.Glu258Lys VAR_015254 rs104894332
19 AQP2 p.Pro262Leu VAR_015255 rs104894339
20 AQP2 p.Gln57Pro VAR_015256 rs28931580
21 AQP2 p.Gly100Val VAR_015257 rs104894338
22 AQP2 p.Ala70Asp VAR_062585
23 AQP2 p.Gly100Arg VAR_062586 rs130307620
24 AQP2 p.Gly180Ser VAR_062587 rs147039983
25 AQP2 p.Arg187His VAR_062588 rs193922495
26 AQP2 p.Arg254Leu VAR_062589
27 AQP2 p.Arg254Gln VAR_062590
28 AQP2 p.Thr108Met VAR_071370 rs146882829

Expression for Diabetes Insipidus, Nephrogenic, Autosomal

Search GEO for disease gene expression data for Diabetes Insipidus, Nephrogenic, Autosomal.

Pathways for Diabetes Insipidus, Nephrogenic, Autosomal

Pathways related to Diabetes Insipidus, Nephrogenic, Autosomal according to KEGG:

36
# Name Kegg Source Accession
1 Vasopressin-regulated water reabsorption hsa04962

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.91 AQP7 AQP6 AQP4 AQP3 AQP2 AQP11
2
Show member pathways
12.9 SLC12A1 MIP CLCNKA AVPR2 AVP AQP7
3
Show member pathways
11.78 MIP AVPR2 AVP AQP7 AQP6 AQP4
4 11.2 AVPR2 AVP AQP4 AQP3 AQP2

GO Terms for Diabetes Insipidus, Nephrogenic, Autosomal

Cellular components related to Diabetes Insipidus, Nephrogenic, Autosomal according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.34 SLC12A1 MIP LNPEP L1CAM CLCNKA CFAP47
2 plasma membrane GO:0005886 10.2 SLC12A1 MIP LNPEP L1CAM CLCNKA CASR
3 integral component of membrane GO:0016021 10.06 SLC12A1 MIP LNPEP L1CAM CLCNKA CFAP47
4 cell GO:0005623 9.95 SLC12A1 OXT CASR AVP AQP4 AQP11
5 basolateral plasma membrane GO:0016323 9.77 CASR AQP4 AQP3 AQP2 AQP1
6 cytoplasmic vesicle membrane GO:0030659 9.65 LNPEP AQP7 AQP6 AQP2 AQP11
7 apical plasma membrane GO:0016324 9.5 SLC12A1 MIP CASR AQP6 AQP2 AQP10
8 integral component of plasma membrane GO:0005887 9.36 MIP LNPEP CLCNKA CASR AVPR2 AQP7

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

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 10 SLC12A1 MIP CLCNKA AQP7 AQP6 AQP4
2 cellular response to hypoxia GO:0071456 9.8 CASR AQP3 AQP1
3 response to organic cyclic compound GO:0014070 9.8 OXT CASR AVP
4 chloride transmembrane transport GO:1902476 9.79 SLC12A1 CLCNKA CASR
5 protein homotetramerization GO:0051289 9.73 MIP AQP4 AQP2 AQP10
6 odontogenesis GO:0042476 9.7 AQP6 AQP3 AQP1
7 positive regulation of vasoconstriction GO:0045907 9.65 CASR AVPR2 AVP
8 positive regulation of blood pressure GO:0045777 9.63 OXT AVPR2
9 excretion GO:0007588 9.63 CLCNKA AVPR2 AQP6
10 renal water homeostasis GO:0003091 9.63 AVPR2 AVP AQP4 AQP3 AQP2 AQP1
11 cell volume homeostasis GO:0006884 9.62 SLC12A1 AQP1
12 grooming behavior GO:0007625 9.61 OXT AVP
13 maternal behavior GO:0042711 9.6 OXT AVP
14 positive regulation of systemic arterial blood pressure GO:0003084 9.59 AVPR2 AVP
15 hyperosmotic salinity response GO:0042538 9.58 OXT AVP
16 negative regulation of urine volume GO:0035811 9.58 OXT AVPR2
17 multicellular organismal water homeostasis GO:0050891 9.58 AVP AQP4 AQP1
18 water homeostasis GO:0030104 9.57 AQP4 AQP11
19 urea transport GO:0015840 9.56 AQP3 AQP11
20 carbon dioxide transport GO:0015670 9.55 AQP6 AQP1
21 maternal aggressive behavior GO:0002125 9.54 OXT AVP
22 urea transmembrane transport GO:0071918 9.54 AQP7 AQP3 AQP10
23 cellular response to mercury ion GO:0071288 9.51 AQP2 AQP1
24 cellular water homeostasis GO:0009992 9.5 AQP4 AQP11 AQP1
25 renal water transport GO:0003097 9.49 AQP2 AQP1
26 glycerol transport GO:0015793 9.43 AQP7 AQP3 AQP2 AQP11 AQP10 AQP1
27 water transport GO:0006833 9.32 MIP AVP AQP7 AQP6 AQP4 AQP3

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

# Name GO ID Score Top Affiliating Genes
1 channel activity GO:0015267 9.61 MIP AQP7 AQP6 AQP4 AQP3 AQP2
2 glycerol channel activity GO:0015254 9.46 AQP7 AQP3 AQP11 AQP10
3 urea transmembrane transporter activity GO:0015204 9.43 AQP7 AQP3 AQP10
4 water transmembrane transporter activity GO:0005372 9.4 AQP2 AQP1
5 glycerol transmembrane transporter activity GO:0015168 9.37 AQP2 AQP1
6 neurohypophyseal hormone activity GO:0005185 9.32 OXT AVP
7 water channel activity GO:0015250 9.28 MIP AQP7 AQP6 AQP4 AQP3 AQP2

Sources for Diabetes Insipidus, Nephrogenic, Autosomal

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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