eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| townes brocks syndrome | ||||
| Disease ID | 1035 |
|---|---|
| Disease | townes brocks syndrome |
| Definition | An autosomal dominant inherited syndrome caused by mutations in the SALL1 gene. Clinical manifestations include imperforate anus, malformations in the ears and hands, hearing loss, and kidney and heart abnormalities. |
| Synonym | anal-ear-renal-radial malformation syndrome anus, imperforate, with hand, foot, and ear anomalies deafness, sensorineural, with imperforate anus and hypoplastic thumbs deafness, sensorineural, with imperforate anus and thumb anomalies deafness-imperforate anus-hypoplastic thumbs syndrome imperforate anus-hand and foot anomalies syndrome rear syndrome rearing syndrome renal-ear-anal-radial syndrome renal-ear-anal-radial syndrome (rear) sensorineural deafness-imperforate anus-hypoplastic thumbs syndrome syndrome towne brock syndrome townes brock tbs towne syndrome townes syndrome townes syndrome (disorder) townes-brocks syndrome |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0265246 |
| 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 | Entrez_id | Symbol | Score | Resource(Total Genes:19) 257 | ALX3 | 2.255 | DISEASES 1123 | CHN1 | 3.008 | DISEASES 51339 | DACT1 | 3.1 | DISEASES 22943 | DKK1 | 1.287 | DISEASES 2138 | EYA1 | 3.594 | DISEASES 2187 | FANCB | 2.604 | DISEASES 2297 | FOXD1 | 3.304 | DISEASES 2737 | GLI3 | 1.437 | DISEASES 64327 | LMBR1 | 2.447 | DISEASES 4878 | NPPA | 1.328 | DISEASES 5015 | OTX2 | 2.149 | DISEASES 5076 | PAX2 | 1.645 | DISEASES 7849 | PAX8 | 1.327 | DISEASES 56034 | PDGFC | 2.293 | DISEASES 5332 | PLCB4 | 3.278 | DISEASES 6297 | SALL2 | 4.632 | DISEASES 6474 | SHOX2 | 2.784 | DISEASES 7341 | SUMO1 | 1.823 | DISEASES 7329 | UBE2I | 2.23 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1035 |
|---|---|
| Disease | townes brocks syndrome |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 1035 |
|---|---|
| Disease | townes brocks syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Manually Genotypes:1) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| SALL1 | - | 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:4) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894535 | NA | 6299 | SALL1 | umls:C0265246 | CLINVAR | NA | 0.447600372 | NA | SALL1 | 16 | 51141107 | G | T,C |
| rs104894537 | 11478532 | 6299 | SALL1 | umls:C0265246 | BeFree | Sequencing of SALL1, the gene mutated in TBS, in four of the eight patients revealed one with a C --> T transition (resulting in a nonsense mutation R276X) at a previously identified mutational hot spot. | 0.447600372 | 2001 | SALL1 | 16 | 51141396 | G | T,A |
| rs104894537 | NA | 6299 | SALL1 | umls:C0265246 | CLINVAR | NA | 0.447600372 | NA | SALL1 | 16 | 51141396 | G | T,A |
| rs137853084 | NA | 6299 | SALL1 | umls:C0265246 | CLINVAR | NA | 0.447600372 | NA | SALL1 | 16 | 51140966 | A | 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 | 1035 |
|---|---|
| Disease | townes brocks syndrome |
| Case | (Waiting for update.) |