eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| beare-stevenson cutis gyrata syndrome | ||||
| Disease ID | 1737 |
|---|---|
| Disease | beare-stevenson cutis gyrata syndrome |
| Definition | A rare, autosomal dominant inherited disorder caused by mutations in the FGFR2 gene. It is characterized by the premature fusion of the bones of the skull (craniosynostosis) and a skin abnormality called cutis gyrata. The craniosynostosis results in a cloverleaf-shaped skull, wide-set eyes, ear abnormalities, underdeveloped upper jaw, and developmental delays. Cutis gyrata is characterized by a wrinkled skin appearance, especially on the face, near the ears, and on the palms and soles. |
| Synonym | beare-stevenson syndrome bstvs cutis gyrata syndrome of beare and stevenson cutis gyrata syndrome of beare and stevenson (disorder) cutis gyrata syndrome of beare-stevenson |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C1852406 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:3) |
| Locus | (Waiting for update.) |
| Disease ID | 1737 |
|---|---|
| Disease | beare-stevenson cutis gyrata syndrome |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 1737 |
|---|---|
| Disease | beare-stevenson cutis gyrata 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:5) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121913477 | 18247426 | 2263 | FGFR2 | umls:C1852406 | BeFree | Second case of Beare-Stevenson syndrome with an FGFR2 Ser372Cys mutation. | 0.561900093 | 2008 | FGFR2 | 10 | 121515289 | G | C |
| rs121913477 | NA | 2263 | FGFR2 | umls:C1852406 | CLINVAR | NA | 0.561900093 | NA | FGFR2 | 10 | 121515289 | G | C |
| rs121913478 | 16531735 | 2263 | FGFR2 | umls:C1852406 | BeFree | A case of Beare-Stevenson syndrome with a broad spectrum of features and a review of the FGFR2 Y375C mutation phenotype. | 0.561900093 | 2006 | FGFR2 | 10 | 121515280 | T | C |
| rs121913478 | 17449949 | 2263 | FGFR2 | umls:C1852406 | BeFree | The first Korean case of Beare-Stevenson syndrome with a Tyr375Cys mutation in the fibroblast growth factor receptor 2 gene. | 0.561900093 | 2007 | FGFR2 | 10 | 121515280 | T | C |
| rs121913478 | NA | 2263 | FGFR2 | umls:C1852406 | CLINVAR | NA | 0.561900093 | NA | FGFR2 | 10 | 121515280 | T | C |
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 | 1737 |
|---|---|
| Disease | beare-stevenson cutis gyrata syndrome |
| Case | (Waiting for update.) |