eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| currarino syndrome | ||||
| Disease ID | 1602 |
|---|---|
| Disease | currarino syndrome |
| Definition | The Currarino syndrome (also Currarino triad) is an inherited congenital disorder where (1) the sacrum (the fused vertebrae forming the back of the pelvis) is not formed properly, (2) there is a mass in the presacral space in front of the sacrum, and (3) there are malformations of the anus or rectum. It can also cause an anterior meningocele or a presacral teratoma. - Wikipedia Reference: https://en.wikipedia.org/wiki/currarino syndrome |
| Synonym | currarino triad currarino triad (disorder) |
| Orphanet | |
| OMIM | |
| UMLS | C1531773 |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:6) C0025299 | meningocele | 3 C0011991 | diarrhea | 1 C0206754 | neuroendocrine tumor | 1 C0080178 | spinal dysraphism | 1 C0019569 | hirschsprung's disease | 1 C0039538 | teratoma | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1602 |
|---|---|
| Disease | currarino syndrome |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:13) HP:0002435 | Meningocele | 3 HP:0007293 | Anterior sacral meningocele | 2 HP:0005765 | Sacral meningocele | 2 HP:0009793 | Retrorectal teratoma | 2 HP:0002251 | Hirschsprung megacolon | 1 HP:0004320 | Vaginal fistula | 1 HP:0000143 | Rectovaginal fistula | 1 HP:0002014 | Diarrhea | 1 HP:0030736 | Sacrococcygeal teratoma | 1 HP:0002664 | Neoplasia | 1 HP:0002144 | Occult spinal dysraphism | 1 HP:0010301 | Spinal dysraphism | 1 HP:0009792 | Teratoma | 1 |
| Disease ID | 1602 |
|---|---|
| Disease | currarino syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C1261470 | meningocele |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:1) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121912547 | NA | 3110 | MNX1 | umls:C1531773 | CLINVAR | NA | 0.48434307 | NA | MNX1;MNX1-AS1 | 7 | 157009859 | G | T |
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 | 1602 |
|---|---|
| Disease | currarino syndrome |
| Case | (Waiting for update.) |