MCID: DBT092
MIFTS: 32

Diabetes Insipidus, Nephrogenic, X-Linked

Categories: Genetic diseases, Nephrological 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 75 40
Diabetes Insipidus, Nephrogenic, Type I 57
Diabetes Insipidus, Nephrogenic Type 1 76
Diabetes Insipidus Nephrogenic Type 1 75
Diabetes Insipidus, Nephrogenic 57
Xndi 75
Ndi 57

Characteristics:

OMIM:

57
Miscellaneous:
genetic heterogeneity (see )
onset in first weeks of life

Inheritance:
x-linked recessive


HPO:

32
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 vasopression (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 vasopression, located on 20p13. (304800)

MalaCards based summary : Diabetes Insipidus, Nephrogenic, X-Linked, also known as diabetes insipidus, nephrogenic, type i, is related to diabetes insipidus, nephrogenic, autosomal and inappropriate adh syndrome. An important gene associated with Diabetes Insipidus, Nephrogenic, X-Linked is AVPR2 (Arginine Vasopressin Receptor 2), and among its related pathways/superpathways are Aquaporin-mediated transport and Vasopressin-regulated water reabsorption. Affiliated tissues include kidney, and related phenotypes are intellectual disability and seizures

UniProtKB/Swiss-Prot : 75 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 : 76 Nephrogenic diabetes insipidus (also known as renal diabetes insipidus) is a form of diabetes insipidus... 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

Symptoms via clinical synopsis from OMIM:

57
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

Genitourinary Kidneys:
polyuria

Metabolic Features:
hypertonic dehydration
unexplained fevers

Growth Other:
failure to thrive

Growth Height:
short stature

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


Clinical features from OMIM:

304800

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

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 seizures 32 HP:0001250
3 failure to thrive 32 HP:0001508
4 constipation 32 HP:0002019
5 short stature 32 HP:0004322
6 feeding difficulties in infancy 32 HP:0008872
7 polydipsia 32 HP:0001959
8 vomiting 32 HP:0002013
9 irritability 32 HP:0000737
10 diabetes insipidus 32 HP:0000873
11 megacystis 32 HP:0000021
12 hypernatremia 32 HP:0003228
13 polyuria 32 HP:0000103
14 hypertonic dehydration 32 HP:0001986
15 unexplained fevers 32 HP:0001955

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

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

Genetic Tests for Diabetes Insipidus, Nephrogenic, X-Linked

Anatomical Context for Diabetes Insipidus, Nephrogenic, X-Linked

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

41
Kidney

Publications for Diabetes Insipidus, Nephrogenic, X-Linked

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

# Title Authors Year
1
Diabetes insipidus, nephrogenic type, complicating pregnancy: a case report. ( 5529923 )
1970

Variations for Diabetes Insipidus, Nephrogenic, X-Linked

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

75 (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
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

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

6
(show top 50) (show all 52)
# Gene Variation Type Significance SNP ID Assembly Location
1 AVPR2 AVPR2, 1-BP DEL, 733G deletion Pathogenic
2 AVPR2 NM_000054.4(AVPR2): c.395C> A (p.Ala132Asp) single nucleotide variant Pathogenic rs104894747 GRCh37 Chromosome X, 153171355: 153171355
3 AVPR2 NM_000054.4(AVPR2): c.395C> A (p.Ala132Asp) single nucleotide variant Pathogenic rs104894747 GRCh38 Chromosome X, 153905901: 153905901
4 AVPR2 NM_000054.4(AVPR2): c.553G> T (p.Gly185Cys) single nucleotide variant Pathogenic rs104894748 GRCh37 Chromosome X, 153171513: 153171513
5 AVPR2 NM_000054.4(AVPR2): c.553G> T (p.Gly185Cys) single nucleotide variant Pathogenic rs104894748 GRCh38 Chromosome X, 153906059: 153906059
6 AVPR2 NM_000054.4(AVPR2): c.614A> G (p.Tyr205Cys) single nucleotide variant Pathogenic rs104894749 GRCh37 Chromosome X, 153171574: 153171574
7 AVPR2 NM_000054.4(AVPR2): c.614A> G (p.Tyr205Cys) single nucleotide variant Pathogenic rs104894749 GRCh38 Chromosome X, 153906120: 153906120
8 AVPR2 NM_000054.4(AVPR2): c.607C> T (p.Arg203Cys) single nucleotide variant Pathogenic rs104894750 GRCh37 Chromosome X, 153171567: 153171567
9 AVPR2 NM_000054.4(AVPR2): c.607C> T (p.Arg203Cys) single nucleotide variant Pathogenic rs104894750 GRCh38 Chromosome X, 153906113: 153906113
10 AVPR2 NM_000054.4(AVPR2): c.337C> T (p.Arg113Trp) single nucleotide variant Pathogenic rs28935496 GRCh37 Chromosome X, 153171297: 153171297
11 AVPR2 NM_000054.4(AVPR2): c.337C> T (p.Arg113Trp) single nucleotide variant Pathogenic rs28935496 GRCh38 Chromosome X, 153905843: 153905843
12 AVPR2 AVPR2, 1-BP INS insertion Pathogenic
13 AVPR2 NM_000054.4(AVPR2): c.213G> A (p.Trp71Ter) single nucleotide variant Pathogenic rs104894751 GRCh37 Chromosome X, 153171173: 153171173
14 AVPR2 NM_000054.4(AVPR2): c.213G> A (p.Trp71Ter) single nucleotide variant Pathogenic rs104894751 GRCh38 Chromosome X, 153905719: 153905719
15 AVPR2 NM_000054.4(AVPR2): c.839A> G (p.Tyr280Cys) single nucleotide variant Pathogenic rs104894752 GRCh37 Chromosome X, 153171799: 153171799
16 AVPR2 NM_000054.4(AVPR2): c.839A> G (p.Tyr280Cys) single nucleotide variant Pathogenic rs104894752 GRCh38 Chromosome X, 153906345: 153906345
17 AVPR2 NM_000054.4(AVPR2): c.1009C> T (p.Arg337Ter) single nucleotide variant Pathogenic rs104894753 GRCh37 Chromosome X, 153172075: 153172075
18 AVPR2 NM_000054.4(AVPR2): c.1009C> T (p.Arg337Ter) single nucleotide variant Pathogenic rs104894753 GRCh38 Chromosome X, 153906621: 153906621
19 AVPR2 NM_000054.4(AVPR2): c.253G> A (p.Asp85Asn) single nucleotide variant Pathogenic rs104894754 GRCh37 Chromosome X, 153171213: 153171213
20 AVPR2 NM_000054.4(AVPR2): c.253G> A (p.Asp85Asn) single nucleotide variant Pathogenic rs104894754 GRCh38 Chromosome X, 153905759: 153905759
21 AVPR2 NM_000054.4(AVPR2): c.602G> A (p.Gly201Asp) single nucleotide variant Pathogenic rs104894755 GRCh37 Chromosome X, 153171562: 153171562
22 AVPR2 NM_000054.4(AVPR2): c.602G> A (p.Gly201Asp) single nucleotide variant Pathogenic rs104894755 GRCh38 Chromosome X, 153906108: 153906108
23 AVPR2 AVPR2, 1-BP INS, 804G insertion Pathogenic
24 AVPR2 AVPR2, 1-BP DEL, 102G deletion Pathogenic
25 AVPR2 NM_000054.4(AVPR2): c.410G> A (p.Arg137His) single nucleotide variant Pathogenic rs104894756 GRCh37 Chromosome X, 153171370: 153171370
26 AVPR2 NM_000054.4(AVPR2): c.410G> A (p.Arg137His) single nucleotide variant Pathogenic rs104894756 GRCh38 Chromosome X, 153905916: 153905916
27 AVPR2 NM_000054.4(AVPR2): c.541C> T (p.Arg181Cys) single nucleotide variant Pathogenic rs104894757 GRCh37 Chromosome X, 153171501: 153171501
28 AVPR2 NM_000054.4(AVPR2): c.541C> T (p.Arg181Cys) single nucleotide variant Pathogenic rs104894757 GRCh38 Chromosome X, 153906047: 153906047
29 AVPR2 NM_000054.4(AVPR2): c.313T> G (p.Phe105Val) single nucleotide variant Pathogenic rs104894758 GRCh37 Chromosome X, 153171273: 153171273
30 AVPR2 NM_000054.4(AVPR2): c.313T> G (p.Phe105Val) single nucleotide variant Pathogenic rs104894758 GRCh38 Chromosome X, 153905819: 153905819
31 AVPR2 NM_000054.4(AVPR2): c.137T> A (p.Ile46Lys) single nucleotide variant Pathogenic rs104894759 GRCh37 Chromosome X, 153171097: 153171097
32 AVPR2 NM_000054.4(AVPR2): c.137T> A (p.Ile46Lys) single nucleotide variant Pathogenic rs104894759 GRCh38 Chromosome X, 153905643: 153905643
33 AVPR2 NM_000054.4(AVPR2): c.310C> T (p.Arg104Cys) single nucleotide variant Pathogenic rs104894760 GRCh37 Chromosome X, 153171270: 153171270
34 AVPR2 NM_000054.4(AVPR2): c.310C> T (p.Arg104Cys) single nucleotide variant Pathogenic rs104894760 GRCh38 Chromosome X, 153905816: 153905816
35 AVPR2 NM_000054.4(AVPR2): c.388A> T (p.Ile130Phe) single nucleotide variant Pathogenic rs796052096 GRCh37 Chromosome X, 153171348: 153171348
36 AVPR2 NM_000054.4(AVPR2): c.388A> T (p.Ile130Phe) single nucleotide variant Pathogenic rs796052096 GRCh38 Chromosome X, 153905894: 153905894
37 AVPR2 NM_000054.4(AVPR2): c.26-6T> G single nucleotide variant Benign/Likely benign rs56689668 GRCh38 Chromosome X, 153905526: 153905526
38 AVPR2 NM_000054.4(AVPR2): c.26-6T> G single nucleotide variant Benign/Likely benign rs56689668 GRCh37 Chromosome X, 153170980: 153170980
39 AVPR2 NM_000054.4(AVPR2): c.966delC (p.Trp323Glyfs) deletion Pathogenic rs886040961 GRCh38 Chromosome X, 153906578: 153906578
40 AVPR2 NM_000054.4(AVPR2): c.966delC (p.Trp323Glyfs) deletion Pathogenic rs886040961 GRCh37 Chromosome X, 153172032: 153172032
41 AVPR2 NM_000054.4(AVPR2): c.886T> C (p.Trp296Arg) single nucleotide variant Uncertain significance rs886041110 GRCh37 Chromosome X, 153171846: 153171846
42 AVPR2 NM_000054.4(AVPR2): c.886T> C (p.Trp296Arg) single nucleotide variant Uncertain significance rs886041110 GRCh38 Chromosome X, 153906392: 153906392
43 AQP2 NM_000486.5(AQP2): c.763C> T (p.Gln255Ter) single nucleotide variant Pathogenic rs370879515 GRCh37 Chromosome 12, 50349338: 50349338
44 AQP2 NM_000486.5(AQP2): c.763C> T (p.Gln255Ter) single nucleotide variant Pathogenic rs370879515 GRCh38 Chromosome 12, 49955555: 49955555
45 AVPR2 NM_000054.4(AVPR2): c.335G> T (p.Cys112Phe) single nucleotide variant Likely pathogenic rs1057518723 GRCh37 Chromosome X, 153171295: 153171295
46 AVPR2 NM_000054.4(AVPR2): c.335G> T (p.Cys112Phe) single nucleotide variant Likely pathogenic rs1057518723 GRCh38 Chromosome X, 153905841: 153905841
47 AVPR2 NM_000054.4(AVPR2): c.878G> A (p.Trp293Ter) single nucleotide variant Pathogenic rs1064797077 GRCh37 Chromosome X, 153171838: 153171838
48 AVPR2 NM_000054.4(AVPR2): c.878G> A (p.Trp293Ter) single nucleotide variant Pathogenic rs1064797077 GRCh38 Chromosome X, 153906384: 153906384
49 AVPR2 NM_000054.4(AVPR2): c.24delC (p.Ala9Leufs) deletion Pathogenic GRCh38 Chromosome X, 153905169: 153905169
50 AVPR2 NM_000054.4(AVPR2): c.24delC (p.Ala9Leufs) deletion Pathogenic GRCh37 Chromosome X, 153170623: 153170623

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

Biological processes related to Diabetes Insipidus, Nephrogenic, X-Linked according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 excretion GO:0007588 8.96 AQP2 AVPR2
2 renal water homeostasis GO:0003091 8.62 AQP2 AVPR2

Sources for Diabetes Insipidus, Nephrogenic, X-Linked

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