PedAM

Pediatric Disease Annotations & Medicines


	frasier syndrome

Disease ID	67
Disease	frasier syndrome
Definition	A condition, which typically presents during adolescence, that is caused by WT-1 mutation, and is characterized by a developmental sex disorder, FSGS, and may be associated with gonadoblastoma.
Synonym	frasier syndrome (disorder) frasier syndrome [disease/finding] frasiers syndrome syndrome, frasier
Orphanet	ORPHANET:347
OMIM	OMIM:136680
DOID	DOID:0050438
UMLS	C0950122
MeSH	D052159
SNOMED-CT	SNOMEDCT_US_2016_09_01:445431000
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:3) C0206661 \| gonadoblastoma \| 1 C0035078 \| renal failure \| 1 C0022661 \| end-stage renal failure \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) WT1 \| 7490 \| CLINVAR;CTD_human;GHR;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:20) 7544 \| ZFY \| DISEASES 268 \| AMH \| DISEASES 6662 \| SOX9 \| DISEASES 81 \| ACTN4 \| DISEASES 51196 \| PLCE1 \| DISEASES 6770 \| STAR \| DISEASES 10782 \| ZNF274 \| DISEASES 7490 \| WT1 \| DISEASES 5154 \| PDGFA \| DISEASES 23607 \| CD2AP \| DISEASES 56956 \| LHX9 \| DISEASES 7827 \| NPHS2 \| DISEASES 25844 \| YIPF3 \| DISEASES 2516 \| NR5A1 \| DISEASES 4868 \| NPHS1 \| DISEASES 5080 \| PAX6 \| DISEASES 2254 \| FGF9 \| DISEASES 6736 \| SRY \| DISEASES 7072 \| TIA1 \| DISEASES 80790 \| CMIP \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) WT1 \| 11p13

Disease ID	67
Disease	frasier syndrome
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:21) HP:0000093 \| Proteinuria HP:0003774 \| End-stage renal failure HP:0000097 \| Focal segmental glomerulosclerosis HP:0000100 \| Nephrotic syndrome HP:0000097 \| focal glomerulosclerosis HP:0000149 \| Ovarian gonadoblastoma HP:0000815 \| Hypergonadotropic hypogonadism HP:0000150 \| Gonadoblastoma HP:0000786 \| Primary amenorrhea HP:0000037 \| Male pseudohermaphroditism HP:0100820 \| Glomerulopathy HP:0000837 \| Increased circulating gonadotropin level HP:0000133 \| Mixed gonadal dysgenesis HP:0000033 \| Ambiguous genitalia, male HP:0008214 \| Decreased serum estradiol HP:0008723 \| Gonadal dysgenesis with female appearance, male HP:0000822 \| Hypertension HP:0000083 \| Renal insufficiency HP:0010464 \| Streak ovary HP:0002667 \| Nephroblastoma HP:0000100 \| Nephrosis
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:4) HP:0003774 \| End-stage renal failure \| 1 HP:0002664 \| Neoplasia \| 1 HP:0000083 \| Renal insufficiency \| 1 HP:0000150 \| Gonadoblastoma \| 1

Disease ID	67
Disease	frasier syndrome
Manually Symptom	UMLS \| Name(Total Manually Symptoms:1) C1962972 \| proteinuria
Text Mined Symptom	(Waiting for update.)

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

All Snps(Total Genotypes:5)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121907909	NA	7490	WT1	umls:C0950122	CLINVAR	NA	0.487610304	NA	WT1	11	32392032	G	A
rs28941779	NA	7490	WT1	umls:C0950122	CLINVAR	NA	0.487610304	NA	WT1	11	32392026	A	G
rs587776575	NA	7490	WT1	umls:C0950122	CLINVAR	NA	0.487610304	NA	WT1	11	32391966	A	T
rs587776576	NA	7490	WT1	umls:C0950122	CLINVAR	NA	0.487610304	NA	WT1	11	32391967	C	T
rs587776577	NA	7490	WT1	umls:C0950122	CLINVAR	NA	0.487610304	NA	WT1	11	32391968	G	A

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:0000097	Focal segmental glomerulosclerosis	MP:0005264	glomerulosclerosis;HP:0000083	Renal insufficiency

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000149	Ovarian gonadoblastoma	MP:0013310	abnormal adrenal gland development;HP:0000100	Nephrotic syndrome

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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