Details of Disease | DrugMAP

General Information of Disease (ID: DISG7BES)

Disease Name	Donnai-Barrow syndrome
Synonyms	diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and Proteinuria; diaphragmatic hernia exomphalos absent corpus callosum hypertelorism myopia sensorineural deafness and proteinuria; Donnai-Barrow syndrome; diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria; facio-oculo-acoustico-renal syndrome; FOAR syndrome; DBS/FOAR syndrome; diaphragmatic hernia-hypertelorism-myopia-deafness syndrome; Holmes-Schepens syndrome; faciooculoacousticorenal syndrome; diaphragmatic hernia-exomphalos-hypertelorism syndrome; syndrome of ocular and facial anomalies, telecanthus and deafness
Definition	Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common.
Disease Hierarchy	DIS7667R: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome DISCPWH9: Autosomal recessive disease DISG7BES: Donnai-Barrow syndrome
Disease Identifiers	MONDO ID MONDO_0009104 MESH ID C536390 UMLS CUI C1857277 OMIM ID 222448 MedGen ID 347406 Orphanet ID 2143 SNOMED CT ID 702418009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
LRP2	TTPH1AJ	Strong	Biomarker	[1]
LRP2	TTPH1AJ	Definitive	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
LRP2	OTZ6W681	Definitive	Autosomal recessive	[2]
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References

1	The distinct optic disk and peripapillary appearance in Donnai-Barrow syndrome.Ophthalmic Genet. 2018 Jun;39(3):321-324. doi: 10.1080/13816810.2018.1430245. Epub 2018 Feb 1.
2	A 56-year-old female patient with facio-oculo-acoustico-renal syndrome (FOAR) syndrome. Report on the natural history and of a novel mutation. Eur J Med Genet. 2009 Sep-Oct;52(5):341-3. doi: 10.1016/j.ejmg.2009.06.005. Epub 2009 Jul 3.