Donnai-Barrow syndrome

Also Known As:

DBS-FOAR Syndrome; Diaphragmatic Hernia, Exomphalos, Absent Corpus Callosum, Hypertelorism, Myopia, Sensorineural Deafness, And Proteinuria; Diaphragmatic Hernia-Exomphalos-Corpus Callosum Agenesis; Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness; Diaphragmatic hernia-exomphalos-hypertelorism syndrome; Donnai Barrow syndrome; Facio-Oculo-Acoustico-Renal syndrome; Faciooculoacousticorenal syndrome; Foar Syndrome

Networked: 16 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Proteinuria
2.	Myopia
3.	Donnai-Barrow syndrome
4.	Renal Insufficiency (Renal Failure)
5.	Chronic Renal Insufficiency

Experts

1.	Nielsen, Rikke: 6 articles (08/2021 - 03/2013)
2.	Storm, Tina: 6 articles (08/2021 - 03/2013)
3.	Christensen, Erik I: 4 articles (01/2019 - 03/2013)
4.	Emma, Francesco: 3 articles (08/2021 - 01/2020)
5.	Diecke, Sebastian: 2 articles (08/2021 - 01/2020)
6.	Flemming, Julia: 2 articles (08/2021 - 01/2020)
7.	Marczenke, Maike: 2 articles (08/2021 - 01/2020)
8.	Rudolph, Ina-Maria: 2 articles (08/2021 - 01/2020)
9.	Willnow, Thomas E: 2 articles (08/2021 - 01/2020)
10.	Frykholm, Carina: 2 articles (12/2020 - 03/2013)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Donnai-Barrow syndrome:

1.	Low Density Lipoprotein Receptor-Related Protein-2IBA 10/01/2023 - "Accordingly, megalin-deficient mice and patients carrying megalin pathogenic variants (Donnai Barrow syndrome) were characterized by elevated urinary PCSK9 excretion. " 01/01/2023 - "Donnai-Barrow syndrome (DBS) is a rare autosomal recessive disorder caused by mutation in the low density lipoprotein receptor-related protein 2 gene (LRP2). " 12/01/2020 - "Pathogenic variants in the LRP2 gene, encoding the multiligand receptor megalin, cause a rare autosomal recessive syndrome: Donnai-Barrow/Facio-Oculo-Acoustico-Renal (DB/FOAR) syndrome. " 12/01/2020 - "In conclusion, megalin dysfunction, as present in DB/FOAR syndrome, confers an increased risk of progression into chronic kidney disease." 01/01/2019 - "Mutations in the megalin-encoding gene, LRP2, cause high myopia as seen in patients suffering from Donnai-Barrow/facio-oculo-acoustico-renal syndrome. "
2.	LigandsIBA 08/01/2021 - "Induced pluripotent stem cell-based disease modeling identifies ligand-induced decay of megalin as a cause of Donnai-Barrow syndrome. " 01/01/2020 - "Induced pluripotent stem cell-based disease modeling identifies ligand-induced decay of megalin as a cause of Donnai-Barrow syndrome."
3.	LDL Receptors (LDL Receptor)IBA 01/01/2020 - "Donnai-Barrow syndrome, a genetic disorder associated to LRP2 (low-density lipoprotein receptor 2/megalin) mutations, is characterized by unexplained neurological symptoms and intellectual deficits. "
4.	Proteins (Proteins, Gene)FDA Link 01/01/2018 - "Biallelic mutations in low-density lipoprotein-related protein 2 (LRP2) cause the multi-system Donnai-Barrow syndrome (facio-oculo-acoustico-renal syndrome). "
5.	LDL Lipoproteins (beta Lipoproteins)IBA 01/01/2018 - "Biallelic mutations in low-density lipoprotein-related protein 2 (LRP2) cause the multi-system Donnai-Barrow syndrome (facio-oculo-acoustico-renal syndrome). "
6.	Atropine FDA LinkGeneric 01/01/2023 - "We treated C57BL/6J mice featuring the myopic phenotype of Donnai-Barrow syndrome by selective inactivation of Lrp2 knock out (KO) and control mice (CTRL) daily with 1% atropine in the left eye and saline in the right eye, from postnatal days 30-56. "

Therapies and Procedures

1.	Cochlear Implantation 01/01/2022 - "Performance of Children With Donnai-Barrow Syndrome After Cochlear Implantation: A Case Report." 02/01/2011 - "Cochlear implantation in Donnai-Barrow syndrome."
2.	Kidney Transplantation 09/01/2009 - "In addition to what was reported in FOAR syndrome, this patient had a megadolichocolon complicated by a volvulus and a late-onset renal failure which necessitated hemodyalisis and renal transplantation. "
3.	Vitrectomy 01/01/2020 - "This technique was performed in three cases of hypotony maculopathy with a complex history of medical treatments: a 4-year-old boy with Donnai-Barrow syndrome and previous pars plana vitrectomy that developed hypotony maculopathy the day after Ahmed glaucoma valve insertion and two male patients (69 and 49 years old) that underwent hypotony maculopathy after cyclophotocoagulation as a last option to reduce intraocular pressure. "
4.	Cochlear Implants (Cochlear Implant) 02/01/2011 - "This case of Donnai-Barrow syndrome was identified from our paediatric cochlear implant database. "