PedAM

Pediatric Disease Annotations & Medicines


	denys-drash syndrome

Disease ID	71
Disease	denys-drash syndrome
Definition	A rare disorder that causes kidney failure before age 3, abnormal development of the sexual organs, and, in most cases, Wilms tumor (a type of kidney cancer). Children with Denys-Drash syndrome are also at high risk of some other types of cancer.
Synonym	denys drash syndrome denys-drash syndrome [disease/finding] drash syndrome drash syndrome (disorder) nephropathy, wilms tumor, and genital anomalies nephrotic syndrome type 4 nephrotic syndrome with pseudohermaphroditism pseudohermaphroditism, nephron disorder and wilms' tumor syndrome, denys-drash syndrome, drash wilms tumor and pseudo- or true hermaphroditism wilms tumor and pseudohermaphroditism wilms' tumor and nephrotic syndrome with pseudohermaphroditism wilms' tumour and nephrotic syndrome with pseudohermaphroditism
Orphanet	ORPHANET:220
OMIM	OMIM:194080
DOID	DOID:3764
UMLS	C0950121
MeSH	D030321
SNOMED-CT	SNOMEDCT_US_2016_09_01:236385009
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:4) C0022735 \| klinefelter syndrome \| 1 C0950122 \| frasier syndrome \| 1 C0027708 \| wilms tumor \| 1 C0035078 \| renal failure \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) WT1 \| 7490 \| CLINVAR;CTD_human;GHR;ORPHANET;UNIPROT
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 7490 \| WT1 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:49) 54432 \| YIPF1 \| DISEASES 268 \| AMH \| DISEASES 6928 \| HNF1B \| DISEASES 84272 \| YIPF4 \| DISEASES 1958 \| EGR1 \| DISEASES 6431 \| SRSF6 \| DISEASES 81 \| ACTN4 \| DISEASES 78992 \| YIPF2 \| DISEASES 269 \| AMHR2 \| DISEASES 6426 \| SRSF1 \| DISEASES 4856 \| NOV \| DISEASES 23361 \| ZNF629 \| DISEASES 1583 \| CYP11A1 \| DISEASES 3487 \| IGFBP4 \| DISEASES 54361 \| WNT4 \| DISEASES 8796 \| SCEL \| DISEASES 6323 \| SCN1A \| DISEASES 8625 \| RFXANK \| DISEASES 80818 \| ZNF436 \| DISEASES 10782 \| ZNF274 \| DISEASES 148266 \| ZNF569 \| DISEASES 5074 \| PAWR \| DISEASES 7490 \| WT1 \| DISEASES 1287 \| COL4A5 \| DISEASES 900 \| CCNG1 \| DISEASES 5154 \| PDGFA \| DISEASES 51710 \| ZNF44 \| DISEASES 23607 \| CD2AP \| DISEASES 6427 \| SRSF2 \| DISEASES 7827 \| NPHS2 \| DISEASES 1289 \| COL5A1 \| DISEASES 25844 \| YIPF3 \| DISEASES 546 \| ATRX \| DISEASES 2516 \| NR5A1 \| DISEASES 5420 \| PODXL \| DISEASES 4868 \| NPHS1 \| DISEASES 190 \| NR0B1 \| DISEASES 375790 \| AGRN \| DISEASES 284390 \| ZNF763 \| DISEASES 2971 \| GTF3A \| DISEASES 6736 \| SRY \| DISEASES 11346 \| SYNPO \| DISEASES 115560 \| ZNF501 \| DISEASES 1285 \| COL4A3 \| DISEASES 1286 \| COL4A4 \| DISEASES 3481 \| IGF2 \| DISEASES 5076 \| PAX2 \| DISEASES 3347 \| HTN3 \| DISEASES 80790 \| CMIP \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) WT1 \| 11p13

Disease ID	71
Disease	denys-drash syndrome
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:4) HP:0002664 \| Neoplasia \| 1 HP:0000078 \| Genital abnormalities \| 1 HP:0000083 \| Renal insufficiency \| 1 HP:0002667 \| Wilms tumor \| 1

Disease ID	71
Disease	denys-drash syndrome
Manually Symptom	UMLS \| Name(Total Manually Symptoms:9) C1398810 \| glomerulopathy C0494752 \| diaphragmatic hernia C0268747 \| diffuse mesangial sclerosis C0238395 \| male pseudohermaphroditism C0042063 \| urogenital abnormalities C0027726 \| nephrotic syndrome C0020312 \| hydrothorax C0019061 \| hemolytic uremic syndrome C0006413 \| burkitt's lymphoma
Text Mined Symptom	(Waiting for update.)

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

All Snps(Total Genotypes:11)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121907900	NA	7490	WT1	umls:C0950121	CLINVAR	NA	0.572691755	NA	WT1	11	32392020	G	A
rs121907901	NA	7490	WT1	umls:C0950121	CLINVAR	NA	0.572691755	NA	WT1	11	32392704	C	T
rs121907902	NA	7490	WT1	umls:C0950121	CLINVAR	NA	0.572691755	NA	WT1	11	32392013	T	C
rs121907903	NA	7490	WT1	umls:C0950121	CLINVAR	NA	0.572691755	NA	WT1	11	32392019	C	G
rs121907904	NA	7490	WT1	umls:C0950121	CLINVAR	NA	0.572691755	NA	WT1	11	32396313	C	T
rs121907905	NA	7490	WT1	umls:C0950121	CLINVAR	NA	0.572691755	NA	WT1	11	32392723	A	C
rs121907906	NA	7490	WT1	umls:C0950121	CLINVAR	NA	0.572691755	NA	WT1	11	32392717	G	A
rs121907907	NA	7490	WT1	umls:C0950121	CLINVAR	NA	0.572691755	NA	WT1	11	32392682	G	C
rs28941778	NA	7490	WT1	umls:C0950121	CLINVAR	NA	0.572691755	NA	WT1	11	32392014	C	T
rs28942089	NA	7490	WT1	umls:C0950121	CLINVAR	NA	0.572691755	NA	WT1	11	32392672	G	A
rs587776576	NA	7490	WT1	umls:C0950121	CLINVAR	NA	0.572691755	NA	WT1	11	32391967	C	T

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

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

Mapped by lexical matching(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001967	Diffuse mesangial sclerosis	MP:0005327	abnormal mesangial cell morphology;HP:0000776	Congenital diaphragmatic hernia

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000100	Nephrotic syndrome	MP:0013310	abnormal adrenal gland development;HP:0000037	Male pseudohermaphroditism

Chemical(Total Drugs:0)
(Waiting for update.)

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

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

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