Details of Disease | DrugMAP

General Information of Disease (ID: DIS3X164)

Disease Name	Branchiootic syndrome
Synonyms	bo syndrome; bor; branchiootic dysplasia
Definition	Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (e.g. lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (inculding cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space).
Disease Hierarchy	DIS6SVEE: Syndromic disease DISD0WVL: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability DIS3X164: Branchiootic syndrome
Disease Identifiers	MONDO ID MONDO_0018878 MESH ID C537104 UMLS CUI C4273131 MedGen ID 1636666 Orphanet ID 52429 SNOMED CT ID 764810000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
EYA1	OTHU807A	Supportive	Autosomal dominant	[1]
SIX1	OT70YYWM	Supportive	Autosomal dominant	[2]
ANLN	OTXJY54C	Strong	Biomarker	[3]
GOSR2	OTYHIYN2	Strong	Biomarker	[4]
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References

1	BOR and BO syndromes are allelic defects of EYA1. Eur J Hum Genet. 1997 Jul-Aug;5(4):242-6.
2	SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. Proc Natl Acad Sci U S A. 2004 May 25;101(21):8090-5. doi: 10.1073/pnas.0308475101. Epub 2004 May 12.
3	Identification of ANLN as a new likely pathogenic gene of branchio-otic syndrome in a three-generation Chinese family.Mol Genet Genomic Med. 2019 Feb;7(2):e00525. doi: 10.1002/mgg3.525. Epub 2018 Dec 11.
4	EYA1-related disorders: two clinical cases and a literature review.Int J Pediatr Otorhinolaryngol. 2014 Aug;78(8):1201-10. doi: 10.1016/j.ijporl.2014.03.032. Epub 2014 Apr 12.