Details of Disease

General Information of Disease (ID: DISHJ9O9)

• Disease Name: Branchiooculofacial syndrome
• Synonyms: lip Pseudocleft-Hemangiomatous branchial cyst syndrome; BOFS; Branchio Oculo Facial Syndrome; hemangiomatous branchial clefts-Lip Pseudocleft syndrome; branchio-oculo-facial syndrome; branchiooculofacial syndrome; branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature ageing; Bof syndrome; branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature Ageing; branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature Aging; branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature aging; BOFS syndrome
• Definition: Branchio-oculo-facial syndrome (BOFS) is characterized by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth.
• Disease Hierarchy:
  DISD0WVL: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
  DIS3HIWD: Autosomal dominant disease
  DISHJ9O9: Branchiooculofacial syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0007235
  MESH ID: D019280
  UMLS CUI: C0376524
  OMIM ID: 113620
  MedGen ID: 91261
  Orphanet ID: 1297
  SNOMED CT ID: 449821007

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TFAP2A	TTDY4BS	Limited	Genetic Variation	[1]
TFAP2A	TTDY4BS	Definitive	Autosomal dominant	[2]

This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AP2A1	OTEFZB21	Limited	Genetic Variation	[3]
EYA1	OTHU807A	Limited	Biomarker	[4]
GRHL3	OT1V4ZEH	Limited	Genetic Variation	[5]
KCTD1	OT89U5MB	Strong	Genetic Variation	[6]
TFAP2A	OTMYT3NK	Definitive	Autosomal dominant	[2]

References

• [1] Modeling the Pathological Long-Range Regulatory Effects of Human Structural Variation with Patient-Specific hiPSCs.Cell Stem Cell. 2019 May 2;24(5):736-752.e12. doi: 10.1016/j.stem.2019.03.004. Epub 2019 Apr 11.
• [2] TFAP2A mutation in a child and mother with predominantly ocular anomalies: non-classical presentation of branchio-oculo-facial syndrome. Clin Dysmorphol. 2019 Oct;28(4):215-218. doi: 10.1097/MCD.0000000000000290.
• [3] Analysis of TFAP2A mutations in Branchio-Oculo-Facial Syndrome indicates functional complexity within the AP-2 DNA-binding domain.Hum Mol Genet. 2013 Aug 15;22(16):3195-206. doi: 10.1093/hmg/ddt173. Epub 2013 Apr 10.
• [4] Thymus, kidney and craniofacial abnormalities in Six 1 deficient mice.Mech Dev. 2003 Jun;120(6):669-79. doi: 10.1016/s0925-4773(03)00065-0.
• [5] Toward an orofacial gene regulatory network.Dev Dyn. 2016 Mar;245(3):220-32. doi: 10.1002/dvdy.24341. Epub 2015 Sep 17.
• [6] Mutations in KCTD1 cause scalp-ear-nipple syndrome. Am J Hum Genet. 2013 Apr 4;92(4):621-6. doi: 10.1016/j.ajhg.2013.03.002. Epub 2013 Mar 28.