eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| legius syndrome | ||||
| Disease ID | 1871 |
|---|---|
| Disease | legius syndrome |
| Definition | Legius syndrome (LS) is an autosomal dominant condition characterized by cafe au lait spots.[1] It was first described in 2007 and is often mistaken for Neurofibromatosis type I (NF-1). It is caused by mutations in the SPRED1 gene.[2][3][4] It is also known as Neurofibromatosis Type 1-like syndrome (NFLS). The syndrome is named after Eric Legius, Professor at the KU Leuven. It is a RASopathy. - Wikipedia Reference: https://en.wikipedia.org/wiki/legius syndrome |
| Synonym | neurofibromatosis type 1-like syndrome neurofibromatosis type 1-like syndrome (disorder) neurofibromatosis, type 1-like syndrome nfls nfls - neurofibromatosis type 1-like syndrome |
| Orphanet | |
| OMIM | |
| UMLS | C1969623 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) SPRED1 | 15q14 |
| Disease ID | 1871 |
|---|---|
| Disease | legius syndrome |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1871 |
|---|---|
| Disease | legius syndrome |
| Manually Symptom | (Waiting for update.) |
| 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:7) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121434312 | NA | 161742 | SPRED1 | umls:C1969623 | CLINVAR | NA | 0.562714419 | NA | SPRED1 | 15 | 38322382 | C | T |
| rs121434313 | NA | 161742 | SPRED1 | umls:C1969623 | CLINVAR | NA | 0.562714419 | NA | SPRED1 | 15 | 38299410 | C | T |
| rs121434314 | NA | 161742 | SPRED1 | umls:C1969623 | CLINVAR | NA | 0.562714419 | NA | SPRED1 | 15 | 38349482 | C | G,T |
| rs121434315 | NA | 161742 | SPRED1 | umls:C1969623 | CLINVAR | NA | 0.562714419 | NA | SPRED1 | 15 | 38299530 | C | T |
| rs121434316 | NA | 161742 | SPRED1 | umls:C1969623 | CLINVAR | NA | 0.562714419 | NA | SPRED1 | 15 | 38349476 | C | T |
| rs121434317 | NA | 161742 | SPRED1 | umls:C1969623 | CLINVAR | NA | 0.562714419 | NA | SPRED1 | 15 | 38351113 | A | T |
| rs121434318 | NA | 161742 | SPRED1 | umls:C1969623 | CLINVAR | NA | 0.562714419 | NA | SPRED1 | 15 | 38299471 | T | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 1871 |
|---|---|
| Disease | legius syndrome |
| Case | (Waiting for update.) |