Branchiooculofacial Syndrome malady

NIH Rare Diseases: 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.³⁰

MalaCards: Branchiooculofacial Syndrome, also known as branchio-oculo-facial syndrome, is related to clear cell renal cell carcinoma and townes-brocks syndrome. An important gene associated with Branchiooculofacial Syndrome is TFAP2A (transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)). The compounds zinc and arginine have been mentioned in the context of this disorder. Affiliated tissues include skin, and related mouse phenotypes are hearing/vestibular/ear and behavior/neurological.

Genetics Home Reference: 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.¹⁷

OMIM: 113620

GeneReviews summary for bofs

Aliases & Descriptions:

branchiooculofacial syndrome 6 15 30 16 8 33 branchio-oculo-facial syndrome 16 17 32 43 hemangiomatous branchial clefts-lip pseudocleft syndrome 30 17 bofs syndrome 30 16 bof syndrome 15 32 branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature aging 17

branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature aging 30 lip pseudocleft-hemangiomatous branchial cyst syndrome 30 lip pseudocleft-hemagiomatous branchial cyst syndrome 17 branchioma 43 bofs 17

Diseases related to branchiooculofacial syndrome by text searches and GeneDecks gene sharing:

(show all 13)

id	Related Disease	Score	Top Affiliating Genes
1	clear cell renal cell carcinoma	12.5	DACH1, TFAP2A
2	townes-brocks syndrome	12.3	EYA1, SALL1
3	goldenhar syndrome	12.3	SALL1, EYA1
4	anophthalmia	12.2	DACH1, EYA1
5	renal agenesis	12.2	SALL1, EYA1
6	polydactyly	12.1	SALL1, DACH1
7	malignant peripheral nerve sheath tumor	12.0	DACH1, EYA1
8	branchiootorenal syndrome	11.8	SALL1, EYA1, DACH1
9	microphthalmia	11.8	SALL1, EYA1, DACH1
10	hearing loss	11.5	SALL1, EYA1, ADH5
11	oculootofacial dysplasia	8.1
12	carcinoma	5.8
13	squamous cell carcinoma	5.8

Clinical features from OMIM: 113620

Approved drugs:

Drug clinical trials:

Genetic tests related to branchiooculofacial syndrome:

id	Genetic test	Affiliating Genes
1	Branchiooculofacial Syndrome clinical/research	TFAP2A

MalaCards organs/tissues related to branchiooculofacial syndrome:

²²

MGI Mouse Phenotypes related to branchiooculofacial syndrome:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	hearing/vestibular/ear phenotype	MP:0005377	8.6	TFAP2A, EYA1, SALL1
2	behavior/neurological phenotype	MP:0005386	8.2	SALL1, EYA1, DACH1, TFAP2A
3	cardiovascular system phenotype	MP:0005385	7.8	ADH5, TFAP2A, EYA1, SALL1
4	mortality/aging	MP:0010768	7.5	SALL1, EYA1, DACH1, TFAP2A, ADH5

Genes related to branchiooculofacial syndrome according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	TFAP2A	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	11.1	Summaries
2	SALL1	sal-like 1 (Drosophila)	11.0
3	ADH5	alcohol dehydrogenase 5 (class III), chi polypeptide	11.0
4	EYA1	eyes absent homolog 1 (Drosophila)	11.0
5	DACH1	dachshund homolog 1 (Drosophila)	11.0

Compounds related to branchiooculofacial syndrome according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	zinc32 18	9.9	SALL1, TFAP2A, ADH5
2	arginine32	8.6	SALL1, TFAP2A, ADH5

Cellular components related to branchiooculofacial syndrome according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	cytoplasm	GO:005737	7.5	SALL1, EYA1, DACH1, TFAP2A, ADH5

Biological processes related to branchiooculofacial syndrome according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	negative regulation of transcription by competitive promoter binding	GO:010944	9.6	DACH1, TFAP2A
2	kidney development	GO:001822	9.4	TFAP2A, SALL1
3	outer ear morphogenesis	GO:042473	9.2	SALL1, EYA1
4	sensory perception of sound	GO:007605	9.2	EYA1, TFAP2A
5	branching involved in ureteric bud morphogenesis	GO:001658	9.1	SALL1, EYA1
6	positive regulation of transcription from RNA polymerase II promoter	GO:045944	8.4	SALL1, EYA1, TFAP2A

Molecular functions related to branchiooculofacial syndrome according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative	GO:001078	9.5	DACH1, TFAP2A