Details of Disease

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

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]

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]

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.