PedAM

Pediatric Disease Annotations & Medicines


	diabetes insipidus, neurohypophyseal

Disease ID	1596
Disease	diabetes insipidus, neurohypophyseal
Synonym	antidiuretic hormone defective syndrome central diabetes insipidus central diabetes insipidus (disorder) central diabetes insipidus [ambiguous] cranial diabetes insipidus diabetes insipidus - pituitary diabetes insipidus cranial type diabetes insipidus primary central diabetes insipidus secondary to vasopressin deficiency diabetes insipidus, central diabetes insipidus, cranial type diabetes insipidus, neurogenic diabetes insipidus, neurogenic [disease/finding] diabetes insipidus, neurohypophyseal type diabetes insipidus, pituitary diabetes insipidus, primary central neurogenic diabetes insipidus neurohypophyseal diabetes insipidus neurohypophyseal diabetes insipidus (disorder) neurohypophyseal diabetes insipidus, nos pituitary diabetes insipidus primary central diabetes insipidus vasopressin defective diabetes insipidus vasopressin deficiency vasopressin deficiency syndrome vasopressin deficiency syndrome (disorder)
Orphanet	ORPHANET:178029
OMIM	OMIM:125700 OMIM:304900
DOID	DOID:12388
MeSH	D020790
SNOMED-CT	SNOMEDCT_US_2016_09_01:45369008
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) AVP \| 551 \| CLINVAR;CTD_human;UNIPROT;GHR
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 551 \| AVP \| infer 114548 \| NLRP3 \| infer
Text Mined Gene	(Waiting for update.)
Locus	(Waiting for update.)

Disease ID	1596
Disease	diabetes insipidus, neurohypophyseal
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:13) HP:0000316 \| Increased distance between eye sockets HP:0000126 \| Hydronephrosis HP:0000103 \| Polyuria HP:0001939 \| Laboratory abnormality HP:0002900 \| Hypokalemia HP:0003196 \| Short nose HP:0001948 \| Alkalosis HP:0000445 \| Broad nose HP:0001959 \| Polydipsia HP:0000863 \| Neurohypophyseal diabetes insipidus HP:0002171 \| Cerebral gliosis HP:0000343 \| Vertical hyperplasia of philtrum HP:0000938 \| Decreased bone mineral density
Text Mined Phenotype	(Waiting for update.)

Disease ID	1596
Disease	diabetes insipidus, neurohypophyseal
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

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

All Snps(Total Genotypes:16)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121964882	NA	551	AVP	umls:C0687720	CLINVAR	NA	0.555999537	NA	AVP	20	3083037	C	T
rs121964883	NA	551	AVP	umls:C0687720	CLINVAR	NA	0.555999537	NA	AVP	20	3083156	C	A
rs121964884	NA	551	AVP	umls:C0687720	CLINVAR	NA	0.555999537	NA	AVP	20	3083005	G	T,A
rs121964885	NA	551	AVP	umls:C0687720	CLINVAR	NA	0.555999537	NA	AVP	20	3083022	C	A
rs121964886	NA	551	AVP	umls:C0687720	CLINVAR	NA	0.555999537	NA	AVP	20	3083012	C	A
rs121964887	NA	551	AVP	umls:C0687720	CLINVAR	NA	0.555999537	NA	AVP	20	3083138	C	A
rs121964888	NA	551	AVP	umls:C0687720	CLINVAR	NA	0.555999537	NA	AVP	20	3083139	C	G
rs121964889	NA	551	AVP	umls:C0687720	CLINVAR	NA	0.555999537	NA	AVP	20	3082788	C	T,A
rs121964890	NA	551	AVP	umls:C0687720	CLINVAR	NA	0.555999537	NA	AVP	20	3083039	G	A
rs121964891	NA	551	AVP	umls:C0687720	CLINVAR	NA	0.555999537	NA	AVP	20	3083024	C	T
rs121964893	NA	551	AVP	umls:C0687720	CLINVAR	NA	0.555999537	NA	AVP	20	3084614	A	G
rs28934878	14673472	551	AVP	umls:C0687720	UNIPROT	Six novel mutations in the arginine vasopressin gene in 15 kindreds with autosomal dominant familial neurohypophyseal diabetes insipidus give further insight into the pathogenesis.	0.555999537	2004	AVP	20	3083099	A	G
rs28934878	NA	551	AVP	umls:C0687720	CLINVAR	NA	0.555999537	NA	AVP	20	3083099	A	G
rs387906511	NA	551	AVP	umls:C0687720	CLINVAR	NA	0.555999537	NA	AVP	20	3084620	C	T
rs387906512	NA	551	AVP	umls:C0687720	CLINVAR	NA	0.555999537	NA	AVP	20	3084619	G	A
rs74315383	NA	551	AVP	umls:C0687720	CLINVAR	NA	0.555999537	NA	AVP	20	3082779	A	C

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.)

Chemical(Total Drugs:1)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0687720	carbamazepine	D002220	298-46-4	diabetes insipidus, neurogenic	MESH:D020790	therapeutic	6502170

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

Web
Analytics