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	diabetes insipidus, nephrogenic

Disease ID	807
Disease	diabetes insipidus, nephrogenic
Definition	A genetic or acquired polyuric disorder characterized by persistent hypotonic urine and HYPOKALEMIA. This condition is due to renal tubular insensitivity to VASOPRESSIN and failure to reduce urine volume. It may be the result of mutations of genes encoding VASOPRESSIN RECEPTORS or AQUAPORIN-2; KIDNEY DISEASES; adverse drug effects; or complications from PREGNANCY.
Synonym	diabete insipidus nephrogenic diabetes insipidus nephrogenic diabetes insipidus, nephrogenic [disease/finding] ndi - nephrogenic diabetes insipidus nephrogen diabetes insip nephrogenic diabetes insipidus nephrogenic diabetes insipidus (disorder) nephrogenic diabetes insipidus -retired- nephrogenic diabetes insipidus, nos
Orphanet	ORPHANET:223
DOID	DOID:12387
ICD10	ICD10CM:N25.1
UMLS	C0162283
MeSH	D018500
SNOMED-CT	SNOMEDCT_US_2016_09_01:111395007
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:12) C0015624 \| fanconi's syndrome \| 3 C0015624 \| fanconi syndrome \| 3 C0022658 \| renal disease \| 2 C0878544 \| cardiomyopathy \| 1 C0022661 \| chronic renal disease \| 1 C0022661 \| end-stage renal disease \| 1 C0020295 \| hydronephrosis \| 1 C0004775 \| bartter syndrome \| 1 C0020502 \| hyperparathyroidism \| 1 C0878681 \| dent's disease \| 1 C0221002 \| primary hyperparathyroidism \| 1 C0020437 \| hypercalcemia \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) 5578 \| PRKCA \| CTD_human 359 \| AQP2 \| CLINVAR;CTD_human;GHR;ORPHANET;UNIPROT 554 \| AVPR2 \| CLINVAR;CTD_human;GHR;ORPHANET;UNIPROT
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) 554 \| AVPR2 \| CIPHER;CTD_human 821 \| CANX \| CIPHER 5578 \| PRKCA \| CTD_human 359 \| AQP2 \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:43) 55811 \| ADCY10 \| 1.355 \| DISEASES 501 \| ALDH7A1 \| 2.083 \| DISEASES 375318 \| AQP12A \| 2.557 \| DISEASES 361 \| AQP4 \| 4.046 \| DISEASES 393 \| ARHGAP4 \| 4.808 \| DISEASES 551 \| AVP \| 6.759 \| DISEASES 554 \| AVPR2 \| 7.67 \| DISEASES 7809 \| BSND \| 3.118 \| DISEASES 846 \| CASR \| 1.224 \| DISEASES 1041 \| CDSN \| 1.413 \| DISEASES 1187 \| CLCNKA \| 3.867 \| DISEASES 1188 \| CLCNKB \| 2.89 \| DISEASES 8065 \| CUL5 \| 1.833 \| DISEASES 192668 \| CYS1 \| 2.232 \| DISEASES 3301 \| DNAJA1 \| 1.407 \| DISEASES 1785 \| DNM2 \| 1.545 \| DISEASES 2157 \| F8 \| 1.561 \| DISEASES 474383 \| F8A2 \| 2.366 \| DISEASES 474384 \| F8A3 \| 2.548 \| DISEASES 26270 \| FBXO6 \| 2.682 \| DISEASES 22862 \| FNDC3A \| 1.434 \| DISEASES 2932 \| GSK3B \| 1.263 \| DISEASES 3758 \| KCNJ1 \| 2.676 \| DISEASES 11202 \| KLK8 \| 1.029 \| DISEASES 3897 \| L1CAM \| 1.971 \| DISEASES 3916 \| LAMP1 \| 1.148 \| DISEASES 83881 \| MIXL1 \| 2.013 \| DISEASES 8260 \| NAA10 \| 1.238 \| DISEASES 4734 \| NEDD4 \| 1.02 \| DISEASES 10725 \| NFAT5 \| 1.184 \| DISEASES 5021 \| OXTR \| 1.729 \| DISEASES 8654 \| PDE5A \| 1.254 \| DISEASES 5743 \| PTGS2 \| 1.672 \| DISEASES 9810 \| RNF40 \| 2.377 \| DISEASES 6158 \| RPL28 \| 2.1 \| DISEASES 6295 \| SAG \| 3.079 \| DISEASES 6557 \| SLC12A1 \| 4.652 \| DISEASES 6559 \| SLC12A3 \| 2.798 \| DISEASES 6563 \| SLC14A1 \| 1.743 \| DISEASES 6524 \| SLC5A2 \| 1.347 \| DISEASES 90627 \| STARD13 \| 2.232 \| DISEASES 23352 \| UBR4 \| 2.294 \| DISEASES 26276 \| VPS33B \| 1.711 \| DISEASES
Locus	(Waiting for update.)

Disease ID	807
Disease	diabetes insipidus, nephrogenic
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:12) HP:0000103 \| Polyuria \| 4 HP:0000126 \| Hydronephrosis \| 1 HP:0002902 \| Hyponatremia \| 1 HP:0001336 \| Myoclonic jerks \| 1 HP:0002917 \| Low blood magnesium levels \| 1 HP:0000016 \| Urinary retention \| 1 HP:0001959 \| Polydipsia \| 1 HP:0003774 \| End-stage renal failure \| 1 HP:0003072 \| Hypercalcemia \| 1 HP:0001638 \| Cardiomyopathy \| 1 HP:0002514 \| Intracranial calcifications \| 1 HP:0004322 \| Stature below 3rd percentile \| 1

Disease ID	807
Disease	diabetes insipidus, nephrogenic
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0032617 \| polyuria \| 4

Manually Genotype(Total Manually Genotypes:1)
Gene	Mutation	DOI	Article Title
AVPR2	-	doi:10.1038/gim.2015.51	Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:21)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104894332	19701945	359	AQP2	umls:C0162283	BeFree	Repulsion between Lys258 and upstream arginines explains the missorting of the AQP2 mutant p.Glu258Lys in nephrogenic diabetes insipidus.	0.47863413	2009	AQP2;LOC101927318	12	49955564	G	A
rs104894339	15509592	359	AQP2	umls:C0162283	BeFree	A novel mechanism in recessive nephrogenic diabetes insipidus: wild-type aquaporin-2 rescues the apical membrane expression of intracellularly retained AQP2-P262L.	0.47863413	2004	AQP2;LOC101927318	12	49955577	C	T
rs104894749	NA	554	AVPR2	umls:C0162283	CLINVAR	NA	0.402629813	NA	AVPR2	X	153906120	A	G
rs104894750	7564126	554	AVPR2	umls:C0162283	BeFree	Expression studies of two vasopressin V2 receptor gene mutations, R202C and 804insG, in nephrogenic diabetes insipidus.	0.402629813	1995	AVPR2	X	153906113	C	T
rs104894760	NA	554	AVPR2	umls:C0162283	CLINVAR	NA	0.402629813	NA	AVPR2	X	153905816	C	T
rs104894761	NA	554	AVPR2	umls:C0162283	CLINVAR	NA	0.402629813	NA	AVPR2	X	153905915	C	G,T
rs139913957	19585583	359	AQP2	umls:C0162283	BeFree	p.R254Q mutation in the aquaporin-2 water channel causing dominant nephrogenic diabetes insipidus is due to a lack of arginine vasopressin-induced phosphorylation.	0.47863413	2009	AQP2;LOC101927318	12	49955550	G	A
rs139913957	19585583	551	AVP	umls:C0162283	BeFree	p.R254Q mutation in the aquaporin-2 water channel causing dominant nephrogenic diabetes insipidus is due to a lack of arginine vasopressin-induced phosphorylation.	0.008957582	2009	AQP2;LOC101927318	12	49955550	G	A
rs193922112	NA	554	AVPR2	umls:C0162283	CLINVAR	NA	0.402629813	NA	AVPR2	X	153905682	T	C
rs193922113	NA	554	AVPR2	umls:C0162283	CLINVAR	NA	0.402629813	NA	AVPR2	X	153905796	T	C
rs193922114	NA	554	AVPR2	umls:C0162283	CLINVAR	NA	0.402629813	NA	AVPR2	X	153905930	T	-
rs193922115	NA	554	AVPR2	umls:C0162283	CLINVAR	NA	0.402629813	NA	AVPR2	X	153905978	C	-
rs193922116	NA	554	AVPR2	umls:C0162283	CLINVAR	NA	0.402629813	NA	AVPR2	X	153906060	G	-
rs193922117	NA	554	AVPR2	umls:C0162283	CLINVAR	NA	0.402629813	NA	AVPR2	X	153906179	C	T
rs193922118	NA	554	AVPR2	umls:C0162283	CLINVAR	NA	0.402629813	NA	AVPR2	X	153906258	GCCGGAC	-
rs193922119	NA	554	AVPR2	umls:C0162283	CLINVAR	NA	0.402629813	NA	AVPR2	X	153906276	G	-
rs193922120	NA	554	AVPR2	umls:C0162283	CLINVAR	NA	0.402629813	NA	AVPR2	X	153906325	GCT	-
rs193922121	NA	554	AVPR2	umls:C0162283	CLINVAR	NA	0.402629813	NA	AVPR2	X	153906344	-	T
rs193922122	NA	554	AVPR2	umls:C0162283	CLINVAR	NA	0.402629813	NA	AVPR2	X	153906359	G	C
rs193922123	NA	554	AVPR2	umls:C0162283	CLINVAR	NA	0.402629813	NA	AVPR2	X	153906575	C	A
rs193922494	NA	359	AQP2	umls:C0162283	CLINVAR	NA	0.47863413	NA	AQP2;LOC101927318	12	49951053	T	G

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	807
Disease	diabetes insipidus, nephrogenic
Case	(Waiting for update.)