eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| saethre chotzen syndrome | ||||
| Disease ID | 1338 |
|---|---|
| Disease | saethre chotzen syndrome |
| Definition | A rare autosomal dominant syndrome caused by mutations in the TWIST1 gene. It is characterized by premature closure of skull bones resulting in abnormally shaped head, high forehead, hypertelorism, and facial asymmetry. It may be associated with fusion of certain fingers or toes. |
| Synonym | acrocephalosyndactylies, type 3 acrocephalosyndactylies, type iii acrocephalosyndactyly iii acrocephalosyndactyly iiis acrocephalosyndactyly type iii acrocephalosyndactyly, type 3 acrocephalosyndactyly, type iii acrocephaly, skull asymmetry, and mild syndactyly acs iii acs3 chotzen syndrome dysostosis craniofacialis with hypertelorism saethre-chotzen syndrome saethre-chotzen syndrome (disorder) scs syndrome, chotzen syndrome, saethre-chotzen type iii acrocephalosyndactyly |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0175699 |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:3) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:43) 208 | AKT2 | 1.066 | DISEASES 249 | ALPL | 1.48 | DISEASES 257 | ALX3 | 2.806 | DISEASES 60529 | ALX4 | 3.232 | DISEASES 57492 | ARID1B | 4.797 | DISEASES 632 | BGLAP | 1.156 | DISEASES 51161 | C3orf18 | 3.334 | DISEASES 9254 | CACNA2D2 | 2.758 | DISEASES 1154 | CISH | 1.095 | DISEASES 1687 | DFNA5 | 2.674 | DISEASES 2260 | FGFR1 | 3.781 | DISEASES 2263 | FGFR2 | 4.955 | DISEASES 2261 | FGFR3 | 5.137 | DISEASES 2737 | GLI3 | 1.164 | DISEASES 9464 | HAND2 | 3.375 | DISEASES 9734 | HDAC9 | 2.712 | DISEASES 8359 | HIST1H4A | 1.342 | DISEASES 8366 | HIST1H4B | 1.342 | DISEASES 8364 | HIST1H4C | 1.342 | DISEASES 8360 | HIST1H4D | 1.341 | DISEASES 8367 | HIST1H4E | 1.342 | DISEASES 8361 | HIST1H4F | 1.342 | DISEASES 8294 | HIST1H4I | 1.342 | DISEASES 8363 | HIST1H4J | 1.342 | DISEASES 8362 | HIST1H4K | 1.342 | DISEASES 8368 | HIST1H4L | 1.342 | DISEASES 8370 | HIST2H4A | 1.342 | DISEASES 554313 | HIST2H4B | 1.342 | DISEASES 121504 | HIST4H4 | 1.342 | DISEASES 3167 | HMX2 | 2.75 | DISEASES 10524 | KAT5 | 1.888 | DISEASES 7867 | MAPKAPK3 | 2.755 | DISEASES 4487 | MSX1 | 1.643 | DISEASES 54820 | NDE1 | 2.361 | DISEASES 10631 | POSTN | 1.093 | DISEASES 221823 | PRPS1L1 | 2.799 | DISEASES 860 | RUNX2 | 2.217 | DISEASES 23161 | SNX13 | 4.795 | DISEASES 6938 | TCF12 | 3.766 | DISEASES 221981 | THSD7A | 2.905 | DISEASES 117581 | TWIST2 | 2.055 | DISEASES 7481 | WNT11 | 2.143 | DISEASES 4904 | YBX1 | 1.388 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1338 |
|---|---|
| Disease | saethre chotzen syndrome |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 1338 |
|---|---|
| Disease | saethre chotzen syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Manually Genotypes:1) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| TWIST1 | - | doi:10.1038/gim.2015.51 | Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:14) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894054 | NA | 7291 | TWIST1 | umls:C0175699 | CLINVAR | NA | 0.452214884 | NA | TWIST1 | 7 | 19117013 | G | T,C |
| rs104894055 | 11977182 | 7291 | TWIST1 | umls:C0175699 | BeFree | Saethre-Chotzen syndrome: notable intrafamilial phenotypic variability in a large family with Q28X TWIST mutation. | 0.452214884 | 2002 | TWIST1 | 7 | 19117240 | G | A |
| rs104894057 | NA | 7291 | TWIST1 | umls:C0175699 | CLINVAR | NA | 0.452214884 | NA | TWIST1 | 7 | 19116966 | T | G |
| rs104894058 | NA | 7291 | TWIST1 | umls:C0175699 | CLINVAR | NA | 0.452214884 | NA | TWIST1 | 7 | 19116781 | C | G,A |
| rs104894059 | NA | 7291 | TWIST1 | umls:C0175699 | CLINVAR | NA | 0.452214884 | NA | TWIST1 | 7 | 19116856 | T | C |
| rs121909186 | NA | 7291 | TWIST1 | umls:C0175699 | CLINVAR | NA | 0.452214884 | NA | TWIST1 | 7 | 19117013 | - | T |
| rs121909187 | NA | 7291 | TWIST1 | umls:C0175699 | CLINVAR | NA | 0.452214884 | NA | TWIST1 | 7 | 19116954 | G | T |
| rs121909188 | NA | 7291 | TWIST1 | umls:C0175699 | CLINVAR | NA | 0.452214884 | NA | TWIST1 | 7 | 19116946 | C | A |
| rs121909189 | NA | 7291 | TWIST1 | umls:C0175699 | CLINVAR | NA | 0.452214884 | NA | TWIST1 | 7 | 19116930 | A | G |
| rs121918497 | 16526917 | 2263 | FGFR2 | umls:C0175699 | BeFree | Q289P mutation in FGFR2 gene causes Saethre-Chotzen syndrome: some considerations about familial heterogeneity. | 0.240814326 | 2006 | FGFR2 | 10 | 121520052 | T | G |
| rs4647924 | NA | 2261 | FGFR3 | umls:C0175699 | CLINVAR | NA | 0.240271442 | NA | FGFR3 | 4 | 1801844 | C | G |
| rs4647924 | 9259286 | 2261 | FGFR3 | umls:C0175699 | BeFree | Although phenotypically diagnosed as having Saethre-Chotzen syndrome, three families were found to have a pro250arg mutation of FGFR3. | 0.240271442 | 1997 | FGFR3 | 4 | 1801844 | C | G |
| rs4647924 | 19755431 | 7291 | TWIST1 | umls:C0175699 | BeFree | Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S252W), Muenke syndrome (FGFR3 substitution P250R), Saethre-Chotzen syndrome (various mutations in TWIST1) and non-syndromic sagittal synostosis (no mutation detected) were cultured. | 0.452214884 | 2010 | FGFR3 | 4 | 1801844 | C | G |
| rs79184941 | 19755431 | 7291 | TWIST1 | umls:C0175699 | BeFree | Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S252W), Muenke syndrome (FGFR3 substitution P250R), Saethre-Chotzen syndrome (various mutations in TWIST1) and non-syndromic sagittal synostosis (no mutation detected) were cultured. | 0.452214884 | 2010 | FGFR2 | 10 | 121520163 | G | C,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) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 1338 |
|---|---|
| Disease | saethre chotzen syndrome |
| Case | (Waiting for update.) |