Branchiooculofacial Syndrome malady
Categories: Genetic diseases, Rare diseases, Fetal diseases
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
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Aliases & Descriptions for Branchiooculofacial Syndrome:
Orphanet epidemiological data:53
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal
Inheritance: autosomal dominant inheritance
Penetrance: bofs has shown almost complete penetrance. careful examination of individuals identified in a family with bofs with a tfap2a pathogenic variant is necessary to reveal subtle findings including premature graying (individuals may have dyed their hair), faint hair on the neck, or heterochromia of the irides...
Global: Genetic diseases, Rare diseases, Fetal diseases
Developmental anomalies during embryogenesis
OMIM:51 Branchiooculofacial syndrome (BOFS) is characterized by branchial cleft sinus defects, ocular anomalies such as... (113620) more...
MalaCards based summary: Branchiooculofacial Syndrome, also known as branchio-oculo-facial syndrome, is related to pulmonic stenosis and microphthalmia, and has symptoms including everted lower lip vermilion, low-set, posteriorly rotated ears and conductive hearing impairment. An important gene associated with Branchiooculofacial Syndrome is TFAP2A (Transcription Factor AP-2 Alpha). Affiliated tissues include skin, eye and thymus, and related mouse phenotype vision/eye.
Disease Ontology:11 An autosomal dominant disease that is characterized by low birth weight and growth retardation, bilateral branchial clefts.
Genetics Home Reference:25 Branchio-oculo-facial syndrome is a condition that affects development before birth, particularly of structures in the face and neck. Its characteristic features include skin anomalies on the neck, malformations of the eyes and ears, and distinctive facial features.
NIH Rare Diseases:47 Branchiooculofacial syndrome (BOFS) is a very rare genetic disorder that is apparent at birth. Only about 50 cases of BOFS had been reported in the medical literature. Like its name implies, BOFS is characterized by skin defects, eye abnormalities, and distinctive facial features. Among the reported cases thus far, the symptoms may vary from mild to severe. BOFS is caused by mutations in the TFAP2A gene and inherited as an autosomal dominant trait. Last updated: 6/23/2011
UniProtKB/Swiss-Prot:69 Branchiooculofacial syndrome: A syndrome characterized by growth retardation, bilateral branchial sinus defects with hemangiomatous, scarred skin, cleft lip with or without cleft palate, pseudocleft of the upper lip, nasolacrimal duct obstruction, low set ears with posterior rotation, a malformed, asymmetrical nose with a broad bridge and flattened tip, conductive or sensorineural deafness, ocular and renal anomalies.
GeneReviews for NBK55063
Diseases related to Branchiooculofacial Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:(show all 14)
Graphical network of diseases related to Branchiooculofacial Syndrome:
Human phenotypes related to Branchiooculofacial Syndrome:63 53 (show all 100)
MalaCards organs/tissues related to Branchiooculofacial Syndrome:35
Skin, Eye, Thymus, Colon, Kidney
Articles related to Branchiooculofacial Syndrome:
UniProtKB/Swiss-Prot genetic disease variations for Branchiooculofacial Syndrome:69
Clinvar genetic disease variations for Branchiooculofacial Syndrome:5
Search GEO for disease gene expression data for Branchiooculofacial Syndrome.
Cellular components related to Branchiooculofacial Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Branchiooculofacial Syndrome according to GeneCards Suite gene sharing:(show all 8)
Molecular functions related to Branchiooculofacial Syndrome according to GeneCards Suite gene sharing:
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet