XNDI
MCID: DBT092
MIFTS: 39

Diabetes Insipidus, Nephrogenic, X-Linked (XNDI)

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

Aliases & Classifications for Diabetes Insipidus, Nephrogenic, X-Linked

MalaCards integrated aliases for Diabetes Insipidus, Nephrogenic, X-Linked:

Name: Diabetes Insipidus, Nephrogenic, X-Linked 57 72 39
Nephrogenic Diabetes Insipidus, X-Linked 29 6
Diabetes Insipidus, Nephrogenic, Type I 57
Diabetes Insipidus, Nephrogenic Type 1 73
Diabetes Insipidus Nephrogenic Type 1 72
Diabetes Insipidus, Nephrogenic 57
Xndi 72
Ndi 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
genetic heterogeneity (see )
onset in first weeks of life

Inheritance:
x-linked recessive


HPO:

31
diabetes insipidus, nephrogenic, x-linked:
Inheritance heterogeneous x-linked recessive inheritance
Onset and clinical course neonatal onset


Classifications:



Summaries for Diabetes Insipidus, Nephrogenic, X-Linked

OMIM® : 57 Nephrogenic diabetes insipidus (NDI) 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), which is caused by a defect in the vasopressin V2 receptor in renal collecting duct cells. The remaining 10% of patients have autosomal NDI (125800) (type II), which is caused by mutations in the gene encoding the aquaporin-2 water channel (AQP2; 107777) on chromosome 12q13 (Morello and Bichet, 2001). Neurogenic, or central, diabetes insipidus (125700) is caused by mutation in the gene encoding arginine vasopressin, located on 20p13. (304800) (Updated 20-May-2021)

MalaCards based summary : Diabetes Insipidus, Nephrogenic, X-Linked, also known as nephrogenic diabetes insipidus, x-linked, is related to diabetes insipidus, nephrogenic, autosomal and diabetes insipidus, nephrogenic, with mental retardation and intracerebral calcification. An important gene associated with Diabetes Insipidus, Nephrogenic, X-Linked is AVPR2 (Arginine Vasopressin Receptor 2). The drugs Lithium carbonate and Atorvastatin have been mentioned in the context of this disorder. Affiliated tissues include kidney, heart and skin, and related phenotypes are intellectual disability and failure to thrive

UniProtKB/Swiss-Prot : 72 Diabetes insipidus, nephrogenic, X-linked: 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.

Wikipedia : 73 Nephrogenic diabetes insipidus (NDI), also known as renal diabetes insipidus, is a form of diabetes... more...

Related Diseases for Diabetes Insipidus, Nephrogenic, X-Linked

Graphical network of the top 20 diseases related to Diabetes Insipidus, Nephrogenic, X-Linked:



Diseases related to Diabetes Insipidus, Nephrogenic, X-Linked

Symptoms & Phenotypes for Diabetes Insipidus, Nephrogenic, X-Linked

Human phenotypes related to Diabetes Insipidus, Nephrogenic, X-Linked:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 failure to thrive 31 HP:0001508
3 constipation 31 HP:0002019
4 short stature 31 HP:0004322
5 feeding difficulties in infancy 31 HP:0008872
6 polydipsia 31 HP:0001959
7 vomiting 31 HP:0002013
8 irritability 31 HP:0000737
9 diabetes insipidus 31 HP:0000873
10 unexplained fevers 31 HP:0001955
11 megacystis 31 HP:0000021
12 hypernatremia 31 HP:0003228
13 polyuria 31 HP:0000103
14 seizure 31 HP:0001250
15 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
normal or increased levels of serum arginine vasopressin (antidiuretic hormone, )
decreased urine osmolality
abnormal extrarenal response to ddavp (no increase in von willebrand factor or factor viii)
no increase in urinary cyclic amp (camp) in response to vasopressin or ddavp

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®:

304800 (Updated 20-May-2021)

Drugs & Therapeutics for Diabetes Insipidus, Nephrogenic, X-Linked

Drugs for Diabetes Insipidus, Nephrogenic, X-Linked (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
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
Hydrochlorothiazide Approved, Vet_approved 58-93-5 3639
15
Sodium citrate Approved, Investigational 68-04-2
16
Indomethacin Approved, Investigational 53-86-1 3715
17
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
18
Calcitonin gene-related peptide Investigational 83652-28-2
19 Sodium Chloride Symporter Inhibitors
20 diuretics
21 Antihypertensive Agents
22 Sodium Channel Blockers
23 Vasodilator Agents
24 Amiloride, hydrochlorothiazide drug combination
25 Vasopressins
26 Diuretics, Potassium Sparing
27 Citrate
28 Katacalcin
29 Phosphodiesterase Inhibitors
30 Antirheumatic Agents
31 Hormones
32 Cyclooxygenase Inhibitors
33 Tocolytic Agents
34 Anti-Inflammatory 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 Study of Genotype and Phenotype Expression in Congenital Nephrogenic Diabetes Insipidus Completed NCT00004360 chlorothiazide
4 Pharmacologic Treatment of Congenital Nephrogenic Diabetes Insipidus Completed NCT00478335 sildenafil;calcitonin;hydrochlorothiazide/amiloride;indomethacin;Placebo for sildenafil;placebo for calcitonin

Search NIH Clinical Center for Diabetes Insipidus, Nephrogenic, X-Linked

Genetic Tests for Diabetes Insipidus, Nephrogenic, X-Linked

Genetic tests related to Diabetes Insipidus, Nephrogenic, X-Linked:

# Genetic test Affiliating Genes
1 Nephrogenic Diabetes Insipidus, X-Linked 29 AVPR2

Anatomical Context for Diabetes Insipidus, Nephrogenic, X-Linked

MalaCards organs/tissues related to Diabetes Insipidus, Nephrogenic, X-Linked:

40
Kidney, Heart, Skin

Publications for Diabetes Insipidus, Nephrogenic, X-Linked

Articles related to Diabetes Insipidus, Nephrogenic, X-Linked:

(show all 46)
# Title Authors PMID Year
1
Detection of skewed X-inactivation in two female carriers of vasopressin type 2 receptor gene mutation. 6 57
9329382 1997
2
X-linked nephrogenic diabetes insipidus mutations in North America and the Hopewell hypothesis. 6 57
8104196 1993
3
A Null mutation in the vasopressin V2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus in the Hopewell kindred. 57 6
8401502 1993
4
Brief report: a molecular defect in the vasopressin V2-receptor gene causing nephrogenic diabetes insipidus. 6 57
8479490 1993
5
Mutations in the vasopressin type 2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus. 6 57
1303271 1992
6
Molecular identification of the gene responsible for congenital nephrogenic diabetes insipidus. 6 57
1356229 1992
7
Nephrogenic diabetes insipidus: absence of close linkage with Xg. 57 6
5309332 1970
8
Nephrogenic diabetes insipidus in North America. The Hopewell hypothesis. 6 57
4886456 1969
9
Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players. 6
33532864 2021
10
Identification of a Novel Arginine Vasopressin Receptor 2 Mutation (p.V183M) in a Chinese Family with Nephrogenic Diabetes Insipidus. 6
32903920 2020
11
A female with X-linked Nephrogenic diabetes insipidus in a family with inherited central diabetes Insipidus: Case report and review of the literature. 6
32073219 2020
12
Novel mutations underlying nephrogenic diabetes insipidus in Arab families. 57
16845277 2006
13
Nephrogenic diabetes insipidus. 57
11181969 2001
14
The property of a novel v2 receptor mutant in a patient with nephrogenic diabetes insipidus. 6
11232028 2001
15
Constitutive arrestin-mediated desensitization of a human vasopressin receptor mutant associated with nephrogenic diabetes insipidus. 6
11134505 2001
16
Functional characterization of the molecular defects causing nephrogenic diabetes insipidus in eight families. 6
10770218 2000
17
Clinical presentation and follow-up of 30 patients with congenital nephrogenic diabetes insipidus. 57
10477148 1999
18
V2 vasopressin receptor dysfunction in nephrogenic diabetes insipidus caused by different molecular mechanisms. 6
9711877 1998
19
Biochemical basis of partial nephrogenic diabetes insipidus phenotypes. 6
9369448 1997
20
An X-linked NDI mutation reveals a requirement for cell surface V2R expression. 6
9171234 1997
21
Clinical phenotype of nephrogenic diabetes insipidus in females heterozygous for a vasopressin type 2 receptor mutation. 57
7607658 1995
22
Proposed cause of marked vasopressin resistance in a female with an X-linked recessive V2 receptor abnormality. 6
7714087 1995
23
Nephrogenic diabetes insipidus: an X chromosome-linked dominant inheritance pattern with a vasopressin type 2 receptor gene that is structurally normal. 6
8078903 1994
24
Brief report: a mutation in the vasopressin V2-receptor gene in a kindred with X-linked nephrogenic diabetes insipidus. 6
8479491 1993
25
X-linked nephrogenic diabetes insipidus: from the ship Hopewell to RFLP studies. 57
1357965 1992
26
Mutations in the V2 vasopressin receptor gene are associated with X-linked nephrogenic diabetes insipidus. 6
1303257 1992
27
Epinephrine and dDAVP administration in patients with congenital nephrogenic diabetes insipidus. Evidence for a pre-cyclic AMP V2 receptor defective mechanism. 57
2559238 1989
28
Three-point linkage analysis using multiple DNA polymorphic markers in families with X-linked nephrogenic diabetes insipidus. 57
2714800 1989
29
Nephrogenic diabetes insipidus: close linkage with markers from the distal long arm of the human X chromosome. 57
2843456 1988
30
Hemodynamic and coagulation responses to 1-desamino[8-D-arginine] vasopressin in patients with congenital nephrogenic diabetes insipidus. 57
2965301 1988
31
Localization of the gene for X-linked nephrogenic diabetes insipidus to Xq28. 57
2894172 1988
32
Treatment of nephrogenic diabetes insipidus with prostaglandin synthesis inhibitors. 57
3080575 1986
33
Absent factor VIII response to synthetic vasopressin analogue (DDAVP) in nephrogenic diabetes insipidus. 57
2860491 1985
34
Hydrochlorothiazide-amiloride in the treatment of congenital nephrogenic diabetes insipidus. 57
3970081 1985
35
Demonstration of a defect in the formation of adenosine 3',5'-monophosphate in vasopressin-resistant diabetes insipidus. 57
4362729 1974
36
Failure to detect the carrier in congenital nephrogenic diabetes insipidus. 57
5018633 1972
37
Progressive hydronephrosis, hydroureter, and dilatation of the bladder in siblings with congenital nephrogenic diabetes insipidus. 57
5502093 1970
38
Familial nephrogenic diabetes insipidus. 57
5770805 1969
39
Nephrogenic diabetes insipidus. A study of the fine structure of the kidney in a seven-month-old male. 57
5669664 1968
40
Chlorothiazid in diabetes insipidus. 57
13644230 1959
41
Effectiveness of temporary implants in teenage patients: a prospective clinical trial. 61
27510957 2017
42
Fluvastatin modulates renal water reabsorption in vivo through increased AQP2 availability at the apical plasma membrane of collecting duct cells. 61
21858457 2011
43
A selective EP4 PGE2 receptor agonist alleviates disease in a new mouse model of X-linked nephrogenic diabetes insipidus. 61
19729836 2009
44
Identification, characterization and rescue of a novel vasopressin-2 receptor mutation causing nephrogenic diabetes insipidus. 61
19170711 2009
45
Aminoglycoside-mediated rescue of a disease-causing nonsense mutation in the V2 vasopressin receptor gene in vitro and in vivo. 61
14998935 2004
46
Generation and phenotype of mice harboring a nonsense mutation in the V2 vasopressin receptor gene. 61
11104789 2000

Variations for Diabetes Insipidus, Nephrogenic, X-Linked

ClinVar genetic disease variations for Diabetes Insipidus, Nephrogenic, X-Linked:

6 (show top 50) (show all 79)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 AVPR2 AVPR2, 1-BP INS Insertion Pathogenic 10841 GRCh37:
GRCh38:
2 AVPR2 AVPR2, 1-BP INS, 804G Insertion Pathogenic 10847 GRCh37:
GRCh38:
3 AVPR2 NM_000054.6(AVPR2):c.738del (p.Arg247fs) Deletion Pathogenic 10835 rs781942628 GRCh37: X:153171693-153171693
GRCh38: X:153906239-153906239
4 AVPR2 NM_000054.6(AVPR2):c.395C>A (p.Ala132Asp) SNV Pathogenic 10836 rs104894747 GRCh37: X:153171355-153171355
GRCh38: X:153905901-153905901
5 AVPR2 NM_000054.6(AVPR2):c.553G>T (p.Gly185Cys) SNV Pathogenic 10837 rs104894748 GRCh37: X:153171513-153171513
GRCh38: X:153906059-153906059
6 AVPR2 NM_000054.6(AVPR2):c.607C>T (p.Arg203Cys) SNV Pathogenic 10839 rs104894750 GRCh37: X:153171567-153171567
GRCh38: X:153906113-153906113
7 AVPR2 NM_000054.6(AVPR2):c.337C>T (p.Arg113Trp) SNV Pathogenic 10840 rs28935496 GRCh37: X:153171297-153171297
GRCh38: X:153905843-153905843
8 AVPR2 NM_000054.6(AVPR2):c.213G>A (p.Trp71Ter) SNV Pathogenic 10842 rs104894751 GRCh37: X:153171173-153171173
GRCh38: X:153905719-153905719
9 AVPR2 NM_000054.6(AVPR2):c.839A>G (p.Tyr280Cys) SNV Pathogenic 10843 rs104894752 GRCh37: X:153171799-153171799
GRCh38: X:153906345-153906345
10 AVPR2 NM_000054.6(AVPR2):c.1009C>T (p.Arg337Ter) SNV Pathogenic 10844 rs104894753 GRCh37: X:153172075-153172075
GRCh38: X:153906621-153906621
11 AVPR2 NM_000054.6(AVPR2):c.253G>A (p.Asp85Asn) SNV Pathogenic 10845 rs104894754 GRCh37: X:153171213-153171213
GRCh38: X:153905759-153905759
12 AVPR2 NM_000054.6(AVPR2):c.602G>A (p.Gly201Asp) SNV Pathogenic 10846 rs104894755 GRCh37: X:153171562-153171562
GRCh38: X:153906108-153906108
13 AVPR2 NM_000054.6(AVPR2):c.102del (p.Leu35fs) Deletion Pathogenic 10848 rs1569545523 GRCh37: X:153171062-153171062
GRCh38: X:153905608-153905608
14 AVPR2 NM_000054.6(AVPR2):c.410G>A (p.Arg137His) SNV Pathogenic 10849 rs104894756 GRCh37: X:153171370-153171370
GRCh38: X:153905916-153905916
15 AVPR2 NM_000054.6(AVPR2):c.541C>T (p.Arg181Cys) SNV Pathogenic 10850 rs104894757 GRCh37: X:153171501-153171501
GRCh38: X:153906047-153906047
16 AVPR2 NM_000054.6(AVPR2):c.313T>G (p.Phe105Val) SNV Pathogenic 10851 rs104894758 GRCh37: X:153171273-153171273
GRCh38: X:153905819-153905819
17 AVPR2 NM_000054.6(AVPR2):c.137T>A (p.Ile46Lys) SNV Pathogenic 10852 rs104894759 GRCh37: X:153171097-153171097
GRCh38: X:153905643-153905643
18 AVPR2 NM_000054.6(AVPR2):c.388A>T (p.Ile130Phe) SNV Pathogenic 204318 rs796052096 GRCh37: X:153171348-153171348
GRCh38: X:153905894-153905894
19 AVPR2 NM_000054.6(AVPR2):c.966del (p.Trp323fs) Deletion Pathogenic 267269 rs886040961 GRCh37: X:153172029-153172029
GRCh38: X:153906575-153906575
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 AVPR2 NM_000054.6(AVPR2):c.770dup (p.Gly257_Glu258insTer) Duplication Pathogenic 974415 GRCh37: X:153171728-153171729
GRCh38: X:153906274-153906275
26 AVPR2 NM_000054.6(AVPR2):c.614A>G (p.Tyr205Cys) SNV Pathogenic 10838 rs104894749 GRCh37: X:153171574-153171574
GRCh38: X:153906120-153906120
27 AVPR2 NM_000054.6(AVPR2):c.310C>T (p.Arg104Cys) SNV Pathogenic 10853 rs104894760 GRCh37: X:153171270-153171270
GRCh38: X:153905816-153905816
28 AVPR2 NM_000054.6(AVPR2):c.513C>G (p.Ser171Arg) SNV Likely pathogenic 975078 GRCh37: X:153171473-153171473
GRCh38: X:153906019-153906019
29 AVPR2 NM_000054.6(AVPR2):c.814A>G (p.Met272Val) SNV Likely pathogenic 996110 GRCh37: X:153171774-153171774
GRCh38: X:153906320-153906320
30 AVPR2 NM_000054.6(AVPR2):c.335G>T (p.Cys112Phe) SNV Likely pathogenic 374351 rs1057518723 GRCh37: X:153171295-153171295
GRCh38: X:153905841-153905841
31 AVPR2 NM_000054.6(AVPR2):c.816G>A (p.Met272Ile) SNV Likely pathogenic 804120 rs1603282342 GRCh37: X:153171776-153171776
GRCh38: X:153906322-153906322
32 AVPR2 NM_000054.6(AVPR2):c.69C>T (p.Ser23=) SNV Uncertain significance 730476 rs377144623 GRCh37: X:153171029-153171029
GRCh38: X:153905575-153905575
33 AVPR2 NM_000054.6(AVPR2):c.81G>T (p.Arg27Ser) SNV Uncertain significance 912621 GRCh37: X:153171041-153171041
GRCh38: X:153905587-153905587
34 AVPR2 NM_000054.6(AVPR2):c.*129C>T SNV Uncertain significance 368080 rs782022257 GRCh37: X:153172311-153172311
GRCh38: X:153906857-153906857
35 AVPR2 NM_000054.6(AVPR2):c.191_199GGCGGGGCC[1] (p.64_66RRG[1]) Microsatellite Uncertain significance 804118 rs782292545 GRCh37: X:153171150-153171158
GRCh38: X:153905696-153905704
36 AVPR2 NM_000054.6(AVPR2):c.*136T>G SNV Uncertain significance 368081 rs782141948 GRCh37: X:153172318-153172318
GRCh38: X:153906864-153906864
37 AVPR2 NM_000054.6(AVPR2):c.*282G>A SNV Uncertain significance 368084 rs782404692 GRCh37: X:153172464-153172464
GRCh38: X:153907010-153907010
38 AVPR2 NM_000054.6(AVPR2):c.-48G>C SNV Uncertain significance 368070 rs782204150 GRCh37: X:153170552-153170552
GRCh38: X:153905098-153905098
39 AVPR2 NM_000054.6(AVPR2):c.*119G>A SNV Uncertain significance 368079 rs782425427 GRCh37: X:153172301-153172301
GRCh38: X:153906847-153906847
40 AVPR2 NM_000054.6(AVPR2):c.886T>C (p.Trp296Arg) SNV Uncertain significance 279590 rs886041110 GRCh37: X:153171846-153171846
GRCh38: X:153906392-153906392
41 AVPR2 NM_000054.6(AVPR2):c.1010G>A (p.Arg337Gln) SNV Uncertain significance 981523 GRCh37: X:153172076-153172076
GRCh38: X:153906622-153906622
42 AVPR2 NM_000054.6(AVPR2):c.837C>G (p.Val279=) SNV Uncertain significance 914620 GRCh37: X:153171797-153171797
GRCh38: X:153906343-153906343
43 AVPR2 NM_000054.6(AVPR2):c.744_755del (p.Arg249_Arg252del) Deletion Uncertain significance 731000 rs782681085 GRCh37: X:153171699-153171710
GRCh38: X:153906245-153906256
44 AVPR2 NM_000054.6(AVPR2):c.784G>A (p.Val262Met) SNV Uncertain significance 804119 rs1557100878 GRCh37: X:153171744-153171744
GRCh38: X:153906290-153906290
45 AVPR2 NM_000054.6(AVPR2):c.*190A>C SNV Uncertain significance 912658 GRCh37: X:153172372-153172372
GRCh38: X:153906918-153906918
46 AVPR2 NM_000054.6(AVPR2):c.734G>C (p.Gly245Ala) SNV Likely benign 914117 GRCh37: X:153171694-153171694
GRCh38: X:153906240-153906240
47 AVPR2 NM_000054.6(AVPR2):c.485T>C (p.Val162Ala) SNV Likely benign 914116 GRCh37: X:153171445-153171445
GRCh38: X:153905991-153905991
48 AVPR2 NM_000054.6(AVPR2):c.428G>A (p.Arg143His) SNV Likely benign 914115 GRCh37: X:153171388-153171388
GRCh38: X:153905934-153905934
49 AVPR2 NM_000054.6(AVPR2):c.754C>T (p.Arg252Trp) SNV Likely benign 368076 rs61733407 GRCh37: X:153171714-153171714
GRCh38: X:153906260-153906260
50 AVPR2 NM_000054.6(AVPR2):c.189T>C (p.Ala63=) SNV Likely benign 368074 rs140156037 GRCh37: X:153171149-153171149
GRCh38: X:153905695-153905695

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

72 (show top 50) (show all 82)
# Symbol AA change Variation ID SNP ID
1 AVPR2 p.Leu44Pro VAR_003517
2 AVPR2 p.His80Arg VAR_003520
3 AVPR2 p.Val88Met VAR_003521
4 AVPR2 p.Arg106Cys VAR_003522
5 AVPR2 p.Cys112Arg VAR_003523
6 AVPR2 p.Arg113Trp VAR_003524 rs28935496
7 AVPR2 p.Ser126Phe VAR_003525
8 AVPR2 p.Tyr128Ser VAR_003526
9 AVPR2 p.Ala132Asp VAR_003527 rs104894747
10 AVPR2 p.Arg137His VAR_003528 rs104894756
11 AVPR2 p.Arg143Pro VAR_003529
12 AVPR2 p.Trp164Ser VAR_003531
13 AVPR2 p.Ser167Leu VAR_003532
14 AVPR2 p.Ser167Thr VAR_003533
15 AVPR2 p.Arg181Cys VAR_003534 rs104894757
16 AVPR2 p.Gly185Cys VAR_003535 rs104894748
17 AVPR2 p.Arg202Cys VAR_003536 rs782806507
18 AVPR2 p.Arg203Cys VAR_003537 rs104894750
19 AVPR2 p.Tyr205Cys VAR_003538 rs104894749
20 AVPR2 p.Tyr280Cys VAR_003541 rs104894752
21 AVPR2 p.Ala285Pro VAR_003542 rs193922122
22 AVPR2 p.Pro286Leu VAR_003543 rs155710091
23 AVPR2 p.Pro286Arg VAR_003544
24 AVPR2 p.Leu292Pro VAR_003545
25 AVPR2 p.Leu309Pro VAR_003546
26 AVPR2 p.Asn317Lys VAR_003547
27 AVPR2 p.Trp323Ser VAR_003548
28 AVPR2 p.Leu43Pro VAR_015297
29 AVPR2 p.Ile46Lys VAR_015298 rs104894759
30 AVPR2 p.Leu53Arg VAR_015299
31 AVPR2 p.Asn55Asp VAR_015300
32 AVPR2 p.Asn55His VAR_015301
33 AVPR2 p.Leu59Pro VAR_015302 rs193922112
34 AVPR2 p.Leu62Pro VAR_015304
35 AVPR2 p.Leu81Phe VAR_015305
36 AVPR2 p.Leu83Pro VAR_015306
37 AVPR2 p.Leu83Gln VAR_015307
38 AVPR2 p.Ala84Asp VAR_015308
39 AVPR2 p.Asp85Asn VAR_015309 rs104894754
40 AVPR2 p.Gln92Arg VAR_015310
41 AVPR2 p.Leu94Gln VAR_015311
42 AVPR2 p.Pro95Leu VAR_015312
43 AVPR2 p.Trp99Arg VAR_015313
44 AVPR2 p.Arg104Cys VAR_015314 rs104894760
45 AVPR2 p.Phe105Val VAR_015315 rs104894758
46 AVPR2 p.Gly107Glu VAR_015316
47 AVPR2 p.Cys112Tyr VAR_015317
48 AVPR2 p.Gly122Arg VAR_015318
49 AVPR2 p.Met123Lys VAR_015319
50 AVPR2 p.Ser127Phe VAR_015320

Expression for Diabetes Insipidus, Nephrogenic, X-Linked

Search GEO for disease gene expression data for Diabetes Insipidus, Nephrogenic, X-Linked.

Pathways for Diabetes Insipidus, Nephrogenic, X-Linked

GO Terms for Diabetes Insipidus, Nephrogenic, X-Linked

Sources for Diabetes Insipidus, Nephrogenic, X-Linked

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
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35 IUPHAR
36 KEGG
37 LifeMap
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46 MGI
49 NCI
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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
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