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 57 72 39
Nephrogenic Diabetes Insipidus 12 73 20 43 58 29 6 15 70 32
Diabetes Insipidus, Nephrogenic 57 43 13 44
Congenital Nephrogenic Diabetes Insipidus 43 36 70
Vasopressin-Resistant Diabetes Insipidus 12 20 43
Nephrogenic Diabetes Insipidus, Autosomal 29 6
Adh-Resistant Diabetes Insipidus 43 70
Diabetes Insipidus Nephrogenic 20 54
Diabetes Insipidus, Nephrogenic, Type Ii 57
Diabetes Insipidus Nephrogenic X-Linked 20
Diabetes Insipidus, Nephrogenic Type 2 73
Diabetes Insipidus Nephrogenic Type 1 20
Diabetes Insipidus Nephrogenic Type 2 72
Adh Resistant Diabetes Insipidus 20
Diabetes Insipidus Renalis 43
Andi 72
Ndi 43

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®:

57 (Updated 20-May-2021)
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

MedlinePlus Genetics : 43 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 hypokalemia. 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 Atorvastatin have been mentioned in the context of this disorder. Affiliated tissues include kidney, brain 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).

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

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

UniProtKB/Swiss-Prot : 72 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 : 73 Nephrogenic diabetes insipidus (NDI), also known as renal diabetes insipidus, is a form of diabetes... 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 260)
# Related Disease Score Top Affiliating Genes
1 diabetes insipidus, neurohypophyseal 31.8 OXT LNPEP AVPR2 AVP AQP2
2 hypokalemia 31.4 SLC12A1 CASR AVPR2 AQP2
3 nephrogenic syndrome of inappropriate antidiuresis 31.1 AVPR2 AVP AQP2
4 bartter disease 31.0 SLC12A1 CLCNKA CASR AVPR2 AVP AQP2
5 bartter syndrome, type 1, antenatal 30.9 SLC12A1 CASR AQP2
6 diabetes insipidus 30.8 SLC12A1 OXT CLCNKA AVPR2 AVP ARHGAP4
7 polyhydramnios 30.7 SLC12A1 OXT CFAP47 AQP8 AQP3 AQP1
8 polycystic kidney disease 30.6 CASR AVPR2 AVP AQP3 AQP2 AQP1
9 central pontine myelinolysis 30.5 AVPR2 AVP AQP4 AQP2 AQP1
10 hereditary nephrogenic diabetes insipidus 30.5 AVPR2 AQP2
11 intraocular pressure quantitative trait locus 30.3 MIP AQP4 AQP1
12 obstructive hydrocephalus 30.3 AQP4 AQP1
13 hypertension, essential 30.2 SLC12A1 OXT LNPEP CASR AVPR2 AVP
14 nephrogenic diabetes insipidus-intracranial calcification-facial dysmorphism syndrome 11.6
15 diabetes insipidus, nephrogenic, x-linked 11.4
16 diabetes insipidus, nephrogenic, with mental retardation and intracerebral calcification 11.3
17 hydronephrosis 10.8
18 renal tubular acidosis 10.7
19 urinary tract obstruction 10.6
20 fanconi syndrome 10.6
21 distal renal tubular acidosis 10.5
22 hyperparathyroidism 10.5
23 proteinuria, chronic benign 10.5
24 rickets 10.5
25 cystinosis 10.5
26 nephrocalcinosis 10.5
27 gestational diabetes insipidus 10.4 LNPEP AVP
28 kidney disease 10.4
29 supine hypotensive syndrome 10.4 OXT AVP
30 primary hyperparathyroidism 10.4
31 hepatorenal syndrome 10.4 AVP AQP2 AQP1
32 dysferlinopathy 10.4 MIP AQP4 AQP1
33 idiopathic edema 10.4 AQP2 AQP1
34 subependymoma 10.4 AQP4 AQP1
35 hydrops, lactic acidosis, and sideroblastic anemia 10.4 MIP AQP4 AQP1
36 autoimmune optic neuritis 10.4 MIP AQP4
37 bartter syndrome, type 3 10.3 SLC12A1 CLCNKA CASR
38 mineral metabolism disease 10.3 SLC12A1 CASR AVP
39 bartter syndrome, type 2, antenatal 10.3 SLC12A1 CASR
40 meniere disease 10.3 MIP AVP AQP6 AQP2
41 immune deficiency disease 10.3
42 ocular motor apraxia 10.3
43 alacrima, achalasia, and mental retardation syndrome 10.3
44 interstitial nephritis 10.3
45 hydrocephalus 10.3
46 pyelonephritis 10.3
47 neurogenic bladder 10.3
48 constipation 10.3
49 acute kidney failure 10.3
50 mood disorder 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 nausea and vomiting 58 31 frequent (33%) Frequent (79-30%) HP:0002017
7 constipation 58 31 frequent (33%) Frequent (79-30%) HP:0002019
8 polydipsia 58 31 frequent (33%) Frequent (79-30%) HP:0001959
9 fever 58 31 frequent (33%) Frequent (79-30%) HP:0001945
10 anorexia 58 31 frequent (33%) Frequent (79-30%) HP:0002039
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 hydroureter 58 31 occasional (7.5%) Occasional (29-5%) HP:0000072
14 feeding difficulties 58 31 occasional (7.5%) Occasional (29-5%) HP:0011968
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 growth delay 58 Occasional (29-5%)
25 irritability 31 HP:0000737
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®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
mental retardation can occur in patients with repeated episodes of dehydration

Abdomen Gastrointestinal:
constipation
polydipsia
vomiting
poor feeding

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 Other:
failure to thrive

Growth Height:
short stature

Metabolic Features:
unexplained fevers
hypertonic dehydration

Genitourinary Kidneys:
polyuria

Clinical features from OMIM®:

125800 (Updated 20-May-2021)

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

46
# 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 10.03 AQP1 AQP11 AQP2 AQP3 AQP4 AQP6
4 renal/urinary system MP:0005367 9.8 AQP1 AQP11 AQP2 AQP3 AQP4 AQP6
5 reproductive system MP:0005389 9.28 AQP1 AQP2 AQP7 AQP8 CLCNKA L1CAM

Drugs & Therapeutics for Diabetes Insipidus, Nephrogenic, Autosomal

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

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Atorvastatin for the Treatment of Lithium-Induced Nephrogenic Diabetes Insipidus: A Randomized Controlled Trial Completed NCT02967653 Phase 2 Atorvastatin
2 Use of Metformin to Treat Patients With Congenital Nephrogenic Diabetes Insipidus (NDI) Terminated NCT02460354 Phase 1 Metformin
3 Pharmacologic Treatment of Congenital Nephrogenic Diabetes Insipidus Completed NCT00478335 sildenafil;calcitonin;hydrochlorothiazide/amiloride;indomethacin;Placebo for sildenafil;placebo for calcitonin
4 Study of Genotype and Phenotype Expression in Congenital Nephrogenic Diabetes Insipidus Completed NCT00004360 chlorothiazide

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, Brain, Pituitary, Bone, Liver, Thyroid, Bone Marrow

Publications for Diabetes Insipidus, Nephrogenic, Autosomal

Articles related to Diabetes Insipidus, Nephrogenic, Autosomal:

(show top 50) (show all 1425)
# Title Authors PMID Year
1
Nephrogenic diabetes insipidus in North America. The Hopewell hypothesis. 61 57 6
4886456 1969
2
Diverse vasopressin V2 receptor functionality underlying partial congenital nephrogenic diabetes insipidus. 61 54 6
19812297 2009
3
Characterization of D150E and G196D aquaporin-2 mutations responsible for nephrogenic diabetes insipidus: importance of a mild phenotype. 61 54 6
19458121 2009
4
Characterization of two novel missense mutations in the AQP2 gene causing nephrogenic diabetes insipidus. 54 61 6
17192724 2007
5
Nephrogenic diabetes insipidus. 57 54 61
11181969 2001
6
Functional characterization of the molecular defects causing nephrogenic diabetes insipidus in eight families. 6 61 54
10770218 2000
7
Functional studies of twelve mutant V2 vasopressin receptors related to nephrogenic diabetes insipidus: molecular basis of a mild clinical phenotype. 61 6 54
9773787 1998
8
V2 vasopressin receptor dysfunction in nephrogenic diabetes insipidus caused by different molecular mechanisms. 54 6 61
9711877 1998
9
Mutations in the vasopressin V2 receptor and aquaporin-2 genes in 12 families with congenital nephrogenic diabetes insipidus. 6 61 54
9402087 1997
10
An X-linked NDI mutation reveals a requirement for cell surface V2R expression. 6 54 61
9171234 1997
11
Heterogeneous AVPR2 gene mutations in congenital nephrogenic diabetes insipidus. 6 61 54
7913579 1994
12
Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus. 6 54 61
8037205 1994
13
A Null mutation in the vasopressin V2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus in the Hopewell kindred. 61 54 6
8401502 1993
14
X-linked nephrogenic diabetes insipidus: from the ship Hopewell to RFLP studies. 61 54 57
1357965 1992
15
Mutations in the vasopressin type 2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus. 54 6 61
1303271 1992
16
Identification of a Novel Arginine Vasopressin Receptor 2 Mutation (p.V183M) in a Chinese Family with Nephrogenic Diabetes Insipidus. 6 61
32903920 2020
17
A female with X-linked Nephrogenic diabetes insipidus in a family with inherited central diabetes Insipidus: Case report and review of the literature. 61 6
32073219 2020
18
Functional Recovery of AQP2 Recessive Mutations Through Hetero-Oligomerization with Wild-Type Counterpart. 6 61
27641679 2016
19
Novel mutations underlying nephrogenic diabetes insipidus in Arab families. 61 57
16845277 2006
20
Congenital nephrogenic diabetes insipidus presented with bilateral hydronephrosis: genetic analysis of V2R gene mutations. 61 6
16502494 2006
21
Two novel mutations in the aquaporin 2 gene in a girl with congenital nephrogenic diabetes insipidus. 6 61
16361827 2005
22
Constitutive arrestin-mediated desensitization of a human vasopressin receptor mutant associated with nephrogenic diabetes insipidus. 61 6
11134505 2001
23
The property of a novel v2 receptor mutant in a patient with nephrogenic diabetes insipidus. 61 6
11232028 2001
24
An aquaporin-2 water channel mutant which causes autosomal dominant nephrogenic diabetes insipidus is retained in the Golgi complex. 61 57
9649557 1998
25
Biochemical basis of partial nephrogenic diabetes insipidus phenotypes. 61 6
9369448 1997
26
Detection of skewed X-inactivation in two female carriers of vasopressin type 2 receptor gene mutation. 61 6
9329382 1997
27
A low-affinity vasopressin V2-receptor gene in a kindred with X-linked nephrogenic diabetes insipidus. 6 61
8704106 1996
28
Proposed cause of marked vasopressin resistance in a female with an X-linked recessive V2 receptor abnormality. 6 61
7714087 1995
29
Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin 2 water-channel gene. 61 57
7524315 1994
30
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
31
Inheritance of mutations in the V2 receptor gene in thirteen families with nephrogenic diabetes insipidus. 61 6
7933835 1994
32
Requirement of human renal water channel aquaporin-2 for vasopressin-dependent concentration of urine. 57 61
8140421 1994
33
X-linked nephrogenic diabetes insipidus mutations in North America and the Hopewell hypothesis. 6 61
8104196 1993
34
Brief report: a molecular defect in the vasopressin V2-receptor gene causing nephrogenic diabetes insipidus. 6 61
8479490 1993
35
Brief report: a mutation in the vasopressin V2-receptor gene in a kindred with X-linked nephrogenic diabetes insipidus. 61 6
8479491 1993
36
Mutations in the V2 vasopressin receptor gene are associated with X-linked nephrogenic diabetes insipidus. 61 6
1303257 1992
37
Molecular identification of the gene responsible for congenital nephrogenic diabetes insipidus. 61 6
1356229 1992
38
A variant of nephrogenic diabetes insipidus: V2 receptor abnormality restricted to the kidney. 61 57
1828422 1991
39
Autosomal recessive inheritance of vasopressin-resistant diabetes insipidus. 61 57
1672792 1991
40
Two distinct pathophysiological mechanisms in congenital nephrogenic diabetes insipidus. 57 61
3131381 1988
41
Familial cases of congenital nephrogenic diabetes insipidus type II: Remarkable increment of urinary adenosine 3',5'-monophosphate in response to antidiuretic hormone. 57 61
6323666 1984
42
Progressive hydronephrosis, hydroureter, and dilatation of the bladder in siblings with congenital nephrogenic diabetes insipidus. 57 61
5502093 1970
43
Nephrogenic diabetes insipidus: absence of close linkage with Xg. 6 61
5309332 1970
44
Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players. 6
33532864 2021
45
Demonstration of a defect in the formation of adenosine 3',5'-monophosphate in vasopressin-resistant diabetes insipidus. 57
4362729 1974
46
Hereditary diabetes insipidus: report of 20 cases in seven generations. 57
14367471 1955
47
Hereditary diabetes insipidus: unusual urinary tract changes. 57
14785081 1950
48
A novel mutation in the AVPR2 gene (222delA) associated with X-linked nephrogenic diabetes insipidus in a boy with growth failure. 61 54
19703807 2010
49
Effect of the cGMP pathway on AQP2 expression and translocation: potential implications for nephrogenic diabetes insipidus. 61 54
19666909 2010
50
Functional characterization of vasopressin receptor 2 mutations causing partial and complete congenital nephrogenic diabetes insipidus in Thai families. 54 61
20389105 2010

Variations for Diabetes Insipidus, Nephrogenic, Autosomal

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

6 (show top 50) (show all 223)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 AVPR2 NM_000054.6(AVPR2):c.738del (p.Arg247fs) Deletion Pathogenic 10835 rs781942628 GRCh37: X:153171693-153171693
GRCh38: X:153906239-153906239
2 AVPR2 NM_000054.6(AVPR2):c.395C>A (p.Ala132Asp) SNV Pathogenic 10836 rs104894747 GRCh37: X:153171355-153171355
GRCh38: X:153905901-153905901
3 AVPR2 NM_000054.6(AVPR2):c.553G>T (p.Gly185Cys) SNV Pathogenic 10837 rs104894748 GRCh37: X:153171513-153171513
GRCh38: X:153906059-153906059
4 AVPR2 NM_000054.6(AVPR2):c.607C>T (p.Arg203Cys) SNV Pathogenic 10839 rs104894750 GRCh37: X:153171567-153171567
GRCh38: X:153906113-153906113
5 AVPR2 NM_000054.6(AVPR2):c.337C>T (p.Arg113Trp) SNV Pathogenic 10840 rs28935496 GRCh37: X:153171297-153171297
GRCh38: X:153905843-153905843
6 AVPR2 NM_000054.6(AVPR2):c.213G>A (p.Trp71Ter) SNV Pathogenic 10842 rs104894751 GRCh37: X:153171173-153171173
GRCh38: X:153905719-153905719
7 AVPR2 NM_000054.6(AVPR2):c.839A>G (p.Tyr280Cys) SNV Pathogenic 10843 rs104894752 GRCh37: X:153171799-153171799
GRCh38: X:153906345-153906345
8 AVPR2 NM_000054.6(AVPR2):c.1009C>T (p.Arg337Ter) SNV Pathogenic 10844 rs104894753 GRCh37: X:153172075-153172075
GRCh38: X:153906621-153906621
9 AVPR2 NM_000054.6(AVPR2):c.253G>A (p.Asp85Asn) SNV Pathogenic 10845 rs104894754 GRCh37: X:153171213-153171213
GRCh38: X:153905759-153905759
10 AVPR2 NM_000054.6(AVPR2):c.602G>A (p.Gly201Asp) SNV Pathogenic 10846 rs104894755 GRCh37: X:153171562-153171562
GRCh38: X:153906108-153906108
11 AVPR2 NM_000054.6(AVPR2):c.102del (p.Leu35fs) Deletion Pathogenic 10848 rs1569545523 GRCh37: X:153171062-153171062
GRCh38: X:153905608-153905608
12 AVPR2 NM_000054.6(AVPR2):c.410G>A (p.Arg137His) SNV Pathogenic 10849 rs104894756 GRCh37: X:153171370-153171370
GRCh38: X:153905916-153905916
13 AVPR2 NM_000054.6(AVPR2):c.541C>T (p.Arg181Cys) SNV Pathogenic 10850 rs104894757 GRCh37: X:153171501-153171501
GRCh38: X:153906047-153906047
14 AVPR2 NM_000054.6(AVPR2):c.313T>G (p.Phe105Val) SNV Pathogenic 10851 rs104894758 GRCh37: X:153171273-153171273
GRCh38: X:153905819-153905819
15 AVPR2 NM_000054.6(AVPR2):c.137T>A (p.Ile46Lys) SNV Pathogenic 10852 rs104894759 GRCh37: X:153171097-153171097
GRCh38: X:153905643-153905643
16 AVPR2 NM_000054.6(AVPR2):c.388A>T (p.Ile130Phe) SNV Pathogenic 204318 rs796052096 GRCh37: X:153171348-153171348
GRCh38: X:153905894-153905894
17 AVPR2 NM_000054.6(AVPR2):c.966del (p.Trp323fs) Deletion Pathogenic 267269 rs886040961 GRCh37: X:153172029-153172029
GRCh38: X:153906575-153906575
18 AVPR2 AVPR2, 1-BP INS Insertion Pathogenic 10841 GRCh37:
GRCh38:
19 AVPR2 AVPR2, 1-BP INS, 804G Insertion Pathogenic 10847 GRCh37:
GRCh38:
20 AVPR2 NM_000054.6(AVPR2):c.878G>A (p.Trp293Ter) SNV Pathogenic 424624 rs1064797077 GRCh37: X:153171838-153171838
GRCh38: X:153906384-153906384
21 AVPR2 NM_000054.6(AVPR2):c.24del (p.Ala9fs) Deletion Pathogenic 438660 rs1557100304 GRCh37: X:153170622-153170622
GRCh38: X:153905168-153905168
22 AVPR2 NM_000054.6(AVPR2):c.382_384del (p.Tyr128del) Deletion Pathogenic 521815 rs1557100594 GRCh37: X:153171341-153171343
GRCh38: X:153905887-153905889
23 AVPR2 NM_000054.6(AVPR2):c.832GTC[1] (p.Val279del) Microsatellite Pathogenic 975064 GRCh37: X:153171792-153171794
GRCh38: X:153906338-153906340
24 AVPR2 NM_000054.4:c.807_808delTG Microsatellite Pathogenic 998017 GRCh37: X:153171767-153171768
GRCh38: X:153906313-153906314
25 AQP2 NM_000486.6(AQP2):c.3G>T (p.Met1Ile) SNV Pathogenic 998050 GRCh37: 12:50344616-50344616
GRCh38: 12:49950833-49950833
26 AQP2 NM_000486.6(AQP2):c.106C>T (p.Gln36Ter) SNV Pathogenic 998188 GRCh37: 12:50344719-50344719
GRCh38: 12:49950936-49950936
27 AQP2 NM_000486.5(AQP2):c.211G>A (p.Val71Met) SNV Pathogenic 446860 rs149659001 GRCh37: 12:50344824-50344824
GRCh38: 12:49951041-49951041
28 AQP5-AS1 , AQP2 NM_000486.6(AQP2):c.797_*17del (p.Pro266fs) Deletion Pathogenic 974414 GRCh37: 12:50349371-50349407
GRCh38: 12:49955588-49955624
29 AVPR2 NM_000054.6(AVPR2):c.770dup (p.Gly257_Glu258insTer) Duplication Pathogenic 974415 GRCh37: X:153171728-153171729
GRCh38: X:153906274-153906275
30 AVPR2 NM_000054.6(AVPR2):c.614A>G (p.Tyr205Cys) SNV Pathogenic 10838 rs104894749 GRCh37: X:153171574-153171574
GRCh38: X:153906120-153906120
31 AVPR2 NM_000054.6(AVPR2):c.310C>T (p.Arg104Cys) SNV Pathogenic 10853 rs104894760 GRCh37: X:153171270-153171270
GRCh38: X:153905816-153905816
32 AVPR2 NM_000054.6(AVPR2):c.838dup (p.Tyr280fs) Duplication Pathogenic 35747 rs193922121 GRCh37: X:153171797-153171798
GRCh38: X:153906343-153906344
33 AVPR2 NM_000054.6(AVPR2):c.614A>G (p.Tyr205Cys) SNV Pathogenic 10838 rs104894749 GRCh37: X:153171574-153171574
GRCh38: X:153906120-153906120
34 AQP2 NM_000486.5(AQP2):c.277C>T (p.Gln93Ter) SNV Pathogenic 446861 rs770810694 GRCh37: 12:50344890-50344890
GRCh38: 12:49951107-49951107
35 AQP5-AS1 , AQP2 NM_000486.6(AQP2):c.375del (p.Thr126fs) Deletion Pathogenic 988214 GRCh37: 12:50347952-50347952
GRCh38: 12:49954169-49954169
36 AQP2 NM_000486.5(AQP2):c.277C>T (p.Gln93Ter) SNV Pathogenic 446861 rs770810694 GRCh37: 12:50344890-50344890
GRCh38: 12:49951107-49951107
37 AQP5-AS1 , AQP2 NM_000486.5(AQP2):c.559C>T (p.Arg187Cys) SNV Pathogenic 17828 rs104894328 GRCh37: 12:50348446-50348446
GRCh38: 12:49954663-49954663
38 AVPR2 NM_000054.6(AVPR2):c.814A>G (p.Met272Val) SNV Likely pathogenic 996110 GRCh37: X:153171774-153171774
GRCh38: X:153906320-153906320
39 AQP2 NM_000486.5(AQP2):c.190G>A (p.Gly64Arg) SNV Likely pathogenic 17830 rs104894326 GRCh37: 12:50344803-50344803
GRCh38: 12:49951020-49951020
40 AVPR2 NM_000054.6(AVPR2):c.673C>T (p.Gln225Ter) SNV Likely pathogenic 35743 rs193922117 GRCh37: X:153171633-153171633
GRCh38: X:153906179-153906179
41 AVPR2 NM_000054.6(AVPR2):c.752_758del (p.Arg251fs) Deletion Likely pathogenic 35744 rs193922118 GRCh37: X:153171708-153171714
GRCh38: X:153906254-153906260
42 AVPR2 NM_000054.6(AVPR2):c.770del (p.Gly257fs) Deletion Likely pathogenic 35745 rs193922119 GRCh37: X:153171729-153171729
GRCh38: X:153906275-153906275
43 AVPR2 NM_000054.6(AVPR2):c.819_821del (p.Leu274del) Deletion Likely pathogenic 35746 rs193922120 GRCh37: X:153171779-153171781
GRCh38: X:153906325-153906327
44 AVPR2 NM_000054.6(AVPR2):c.853G>C (p.Ala285Pro) SNV Likely pathogenic 35748 rs193922122 GRCh37: X:153171813-153171813
GRCh38: X:153906359-153906359
45 AVPR2 NM_000054.6(AVPR2):c.963C>A (p.Asn321Lys) SNV Likely pathogenic 35749 rs193922123 GRCh37: X:153172029-153172029
GRCh38: X:153906575-153906575
46 AQP2 NM_000486.5(AQP2):c.223T>G (p.Cys75Gly) SNV Likely pathogenic 35693 rs193922494 GRCh37: 12:50344836-50344836
GRCh38: 12:49951053-49951053
47 AQP5-AS1 , AQP2 NM_000486.5(AQP2):c.560G>A (p.Arg187His) SNV Likely pathogenic 35695 rs193922495 GRCh37: 12:50348447-50348447
GRCh38: 12:49954664-49954664
48 AQP5-AS1 , AQP2 NM_000486.5(AQP2):c.785del (p.Pro262fs) Deletion Likely pathogenic 35696 rs193922496 GRCh37: 12:50349359-50349359
GRCh38: 12:49955576-49955576
49 AVPR2 NM_000054.6(AVPR2):c.176T>C (p.Leu59Pro) SNV Likely pathogenic 35737 rs193922112 GRCh37: X:153171136-153171136
GRCh38: X:153905682-153905682
50 AVPR2 NM_000054.6(AVPR2):c.290T>C (p.Leu97Pro) SNV Likely pathogenic 35738 rs193922113 GRCh37: X:153171250-153171250
GRCh38: X:153905796-153905796

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

72 (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 AQP8 AQP7 AQP6 AQP4 AQP3 AQP2
2
Show member pathways
12.9 SLC12A1 MIP CLCNKA AVPR2 AVP AQP8
3
Show member pathways
11.78 MIP AVPR2 AVP AQP8 AQP7 AQP6
4 11.45 AQP8 AQP4 AQP1
5 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 10.31 SLC12A1 MIP LNPEP L1CAM CLCNKA CFAP47
2 plasma membrane GO:0005886 10.03 SLC12A1 MIP LNPEP L1CAM CLCNKA CASR
3 integral component of membrane GO:0016021 9.86 SLC12A1 MIP LNPEP L1CAM CLCNKA CFAP47
4 apical plasma membrane GO:0016324 9.73 SLC12A1 MIP CASR AQP6 AQP2 AQP1
5 basolateral plasma membrane GO:0016323 9.72 CASR AQP4 AQP3 AQP2 AQP1
6 cytoplasmic vesicle membrane GO:0030659 9.67 AQP7 AQP6 AQP2 AQP11
7 integral component of plasma membrane GO:0005887 9.36 MIP LNPEP CLCNKA CASR AVPR2 AQP8

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 AQP8 AQP7 AQP6
2 response to organic cyclic compound GO:0014070 9.8 OXT CASR AVP
3 cellular response to hypoxia GO:0071456 9.8 CASR AQP3 AQP1
4 chloride transmembrane transport GO:1902476 9.79 SLC12A1 CLCNKA CASR
5 protein homotetramerization GO:0051289 9.75 MIP AQP4 AQP2
6 odontogenesis GO:0042476 9.69 AQP6 AQP3 AQP1
7 positive regulation of blood pressure GO:0045777 9.63 OXT AVPR2
8 renal water homeostasis GO:0003091 9.63 AVPR2 AVP AQP4 AQP3 AQP2 AQP1
9 cell volume homeostasis GO:0006884 9.62 SLC12A1 AQP1
10 grooming behavior GO:0007625 9.61 OXT AVP
11 positive regulation of vasoconstriction GO:0045907 9.61 CASR AVPR2 AVP
12 positive regulation of systemic arterial blood pressure GO:0003084 9.6 AVPR2 AVP
13 maternal behavior GO:0042711 9.59 OXT AVP
14 urea transmembrane transport GO:0071918 9.58 AQP7 AQP3
15 excretion GO:0007588 9.58 CLCNKA AVPR2 AQP6
16 hyperosmotic salinity response GO:0042538 9.57 OXT AVP
17 negative regulation of urine volume GO:0035811 9.56 OXT AVPR2
18 water homeostasis GO:0030104 9.55 AQP4 AQP11
19 urea transport GO:0015840 9.54 AQP3 AQP11
20 multicellular organismal water homeostasis GO:0050891 9.54 AVP AQP4 AQP1
21 carbon dioxide transport GO:0015670 9.52 AQP6 AQP1
22 cellular water homeostasis GO:0009992 9.5 AQP4 AQP11 AQP1
23 cellular response to mercury ion GO:0071288 9.49 AQP2 AQP1
24 renal water transport GO:0003097 9.48 AQP2 AQP1
25 maternal aggressive behavior GO:0002125 9.46 OXT AVP
26 glycerol transport GO:0015793 9.35 AQP7 AQP3 AQP2 AQP11 AQP1
27 water transport GO:0006833 9.32 MIP AVP AQP8 AQP7 AQP6 AQP4

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 AQP8 AQP7 AQP6 AQP4 AQP3
2 urea transmembrane transporter activity GO:0015204 9.4 AQP7 AQP3
3 water transmembrane transporter activity GO:0005372 9.37 AQP2 AQP1
4 glycerol channel activity GO:0015254 9.33 AQP7 AQP3 AQP11
5 glycerol transmembrane transporter activity GO:0015168 9.32 AQP2 AQP1
6 water channel activity GO:0015250 9.28 MIP AQP8 AQP7 AQP6 AQP4 AQP3
7 neurohypophyseal hormone activity GO:0005185 9.26 OXT AVP

Sources for Diabetes Insipidus, Nephrogenic, Autosomal

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
Content
Loading form....