eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| frasier syndrome | ||||
| Disease ID | 129 |
|---|---|
| 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 | |
| OMIM | |
| DOID | |
| UMLS | C0950122 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:3) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:14) 23607 | CD2AP | 2.287 | DISEASES 80790 | CMIP | 3.282 | DISEASES 2254 | FGF9 | 2.384 | DISEASES 56956 | LHX9 | 3.712 | DISEASES 4868 | NPHS1 | 2.678 | DISEASES 7827 | NPHS2 | 3.395 | DISEASES 2516 | NR5A1 | 2.765 | DISEASES 5080 | PAX6 | 1.245 | DISEASES 5154 | PDGFA | 1.733 | DISEASES 6736 | SRY | 4.065 | DISEASES 7072 | TIA1 | 1.522 | DISEASES 7490 | WT1 | 6.593 | DISEASES 25844 | YIPF3 | 3.271 | DISEASES 10782 | ZNF274 | 3.97 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) WT1 | 11p13 |
| Disease ID | 129 |
|---|---|
| Disease | frasier syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:21) HP:0008723 | Gonadal dysgenesis with female appearance, male HP:0003774 | End-stage renal failure HP:0000786 | Primary amenorrhea HP:0000037 | Male pseudohermaphroditism HP:0100820 | Glomerulopathy HP:0000033 | Ambiguous genitalia, male HP:0000815 | Hypergonadotropic hypogonadism HP:0002667 | Nephroblastoma HP:0010464 | Streak ovary HP:0000097 | Focal segmental glomerulosclerosis HP:0000149 | Ovarian gonadoblastoma HP:0000837 | Increased circulating gonadotropin level HP:0000097 | focal glomerulosclerosis HP:0000100 | Nephrotic syndrome HP:0000100 | Nephrosis HP:0008214 | Decreased serum estradiol HP:0000822 | Hypertension HP:0000133 | Mixed gonadal dysgenesis HP:0000150 | Gonadoblastoma HP:0000093 | Proteinuria HP:0000083 | Renal insufficiency |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:4) HP:0000150 | Gonadoblastoma | 1 HP:0002664 | Neoplasia | 1 HP:0000083 | Renal insufficiency | 1 HP:0003774 | End-stage renal failure | 1 |
| Disease ID | 129 |
|---|---|
| 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.) |
Text Mining Genotype(Total 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:6) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000837 | Increased circulating gonadotropin level | MP:0011533 | increased urine major urinary protein level | increased amount in the urine of a family of alpha2-microglobulin-related liver secretory proteins that comprise a major protein component of mouse urine |
| HP:0000097 | Focal segmental glomerulosclerosis | MP:0005264 | glomerulosclerosis | hyaline deposits or scarring within the renal glomeruli, often occurring with renal arteriosclerosis or diabetes |
| HP:0000083 | Renal insufficiency | MP:0003335 | exocrine pancreatic insufficiency | inadequate synthesis and/or secretion of digestive enzymes by the exocrine portion of the pancreas, usually due to loss of acinar tissue from idiopathic atrophy or acute or chronic inflammation, causing maldigestion and malabsorption of nutrients |
| HP:0003774 | Stage 5 chronic kidney disease | MP:0011534 | granular kidney | a kidney in which fairly uniform, diffusely and evenly situated foci of scarring of the interstitial tissue of the cortex (and sometimes scarring of glomeruli), and the associated slight degree of bulging of groups of dilated tubules, leads to the develop |
| HP:0010464 | Streak ovary | MP:0003578 | absent ovary | absence of the female reproductive gland containing the germ cells |
| HP:0000033 | Ambiguous genitalia, male | MP:0001925 | male infertility | inability of male to produce live offspring |
Mapped by homologous gene(Total Items:17) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000100 | Nephrotic syndrome | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| HP:0000033 | Ambiguous genitalia, male | MP:0013600 | testis degeneration | a retrogressive impairment of function or destruction of either or both of the male reproductive glands |
| HP:0000837 | Increased circulating gonadotropin level | MP:0014193 | decreased epididymal cell proliferation | decrease in the expansion rate of any epididymal cell population by cell division |
| HP:0000822 | Hypertension | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| HP:0003774 | Stage 5 chronic kidney disease | MP:0014040 | increased cellular sensitivity to DNA damaging agents | greater incidence of cell death following exposure to agents that cause DNA damage |
| HP:0100820 | Glomerulopathy | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| HP:0000093 | Proteinuria | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| HP:0000083 | Renal insufficiency | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000097 | Focal segmental glomerulosclerosis | MP:0013310 | abnormal adrenal gland development | aberrant formation or incomplete differentiation of the pair of endocrine glands located above the kidney that are responsible for steroid hormone secretion from the cortex and neurotransmitter (such as epinephrine and norepinephrine) secretion from the m |
| HP:0000786 | Primary amenorrhea | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000133 | Gonadal dysgenesis | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0000150 | Gonadoblastoma | MP:0013745 | abnormal eyelid margin morphology | any structural anomaly of the confluence of the mucosal surface of the conjunctiva, the edge of the orbicularis, and the cutaneous epithelium |
| HP:0000149 | Ovarian gonadoblastoma | MP:0013310 | abnormal adrenal gland development | aberrant formation or incomplete differentiation of the pair of endocrine glands located above the kidney that are responsible for steroid hormone secretion from the cortex and neurotransmitter (such as epinephrine and norepinephrine) secretion from the m |
| HP:0000815 | Hypergonadotropic hypogonadism | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000037 | Male pseudohermaphroditism | MP:0013745 | abnormal eyelid margin morphology | any structural anomaly of the confluence of the mucosal surface of the conjunctiva, the edge of the orbicularis, and the cutaneous epithelium |
| HP:0010464 | Streak ovary | MP:0013745 | abnormal eyelid margin morphology | any structural anomaly of the confluence of the mucosal surface of the conjunctiva, the edge of the orbicularis, and the cutaneous epithelium |
| HP:0002667 | Nephroblastoma (Wilms tumor) | MP:0013886 | increased CD4-negative, CD25-positive NK T cell number | increase in the number of CD4-negative NK T cells expressing the activation marker CD25 |
| Disease ID | 129 |
|---|---|
| Disease | frasier syndrome |
| Case | (Waiting for update.) |