eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| branchio oculo facial syndrome | ||||
| Disease ID | 1983 |
|---|---|
| Disease | branchio oculo facial syndrome |
| Definition | Branchio-oculo-facial syndrome (BOFS) is a very rare genetic disorder that is apparent at birth (congenital). As of 2004, only about 50 cases of BOFS had been reported in the medical literature. The symptoms of most BOFS patients include the proliferation of blood vessels (hemangiomatous) in the lower neck or upper chest, low birth weight, retarded growth and some mental retardation. BOFS is characterized by the presence of a pseudocleft of the upper lip resembling a poorly repaired cleft lip, a malformed nose with a broad bridge and flattened tip, blockage of the tear ducts (lacrimal duct obstruction), malformed ears, lumps in the area of the neck or collarbone (branchial cleft sinuses) and/or linear skin lesions behind the ears. Often, affected individuals may have burn-like lesions behind the ears. However, even among the cases so far reported, the symptoms may vary from mild to severe forms. The disorder is inherited as an autosomal dominant trait. - NORD Reference: NORD |
| Synonym | bof syndrome bofs branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature aging branchio-oculo-facial syndrome branchiooculofacial syndrome branchiooculofacial syndrome (disorder) hemangiomatous branchial clefts lip pseudocleft syndrome hemangiomatous branchial clefts-lip pseudocleft syndrome lee root fenske syndrome lip pseudocleft hemangiomatous branchial cyst syndrome lip pseudocleft-hemangiomatous branchial cyst syndrome syndrome, bof syndrome, branchio-oculo-facial syndrome, branchiooculofacial |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0376524 |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:13) 64283 | ARHGEF28 | 3.302 | DISEASES 1832 | DSP | 2.178 | DISEASES 2138 | EYA1 | 4.761 | DISEASES 9573 | GDF3 | 3.278 | DISEASES 2969 | GTF2I | 3.19 | DISEASES 9569 | GTF2IRD1 | 3.502 | DISEASES 3664 | IRF6 | 3.384 | DISEASES 284252 | KCTD1 | 3.437 | DISEASES 9935 | MAFB | 2.834 | DISEASES 4487 | MSX1 | 2.458 | DISEASES 5077 | PAX3 | 1.903 | DISEASES 50945 | TBX22 | 3.054 | DISEASES 7020 | TFAP2A | 7.284 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1983 |
|---|---|
| Disease | branchio oculo facial syndrome |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:3) |
| Disease ID | 1983 |
|---|---|
| Disease | branchio oculo facial 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 |
| rs121909574 | NA | 7020 | TFAP2A | umls:C0376524 | CLINVAR | NA | 0.36434307 | NA | TFAP2A | 6 | 10404509 | T | G,C |
| rs121909575 | NA | 7020 | TFAP2A | umls:C0376524 | CLINVAR | NA | 0.36434307 | NA | TFAP2A | 6 | 10402590 | C | T |
| rs151344525 | NA | 7020 | TFAP2A | umls:C0376524 | CLINVAR | NA | 0.36434307 | NA | TFAP2A | 6 | 10404562 | C | T,G |
| rs151344531 | 22276601 | 7020 | TFAP2A | umls:C0376524 | BeFree | We report a 2-month-old boy with bilateral branchial cleft anomalies, low-set ears, and hydronephrosis who tested positive for a mutation in the TFAP2A gene (A256V) implicated in branchio-oculo-facial (BOF) syndrome. | 0.36434307 | 2012 | TFAP2A | 6 | 10402608 | G | A |
| rs267607108 | NA | 7020 | TFAP2A | umls:C0376524 | CLINVAR | NA | 0.36434307 | NA | TFAP2A | 6 | 10400587 | C | T |
| rs793888540 | NA | 7020 | TFAP2A | umls:C0376524 | CLINVAR | NA | 0.36434307 | NA | TFAP2A | 6 | 10404623 | G | T |
| rs793888541 | NA | 7020 | TFAP2A | umls:C0376524 | CLINVAR | NA | 0.36434307 | NA | TFAP2A | 6 | 10404631 | 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 | 1983 |
|---|---|
| Disease | branchio oculo facial syndrome |
| Case | (Waiting for update.) |