syndromic 2 Microphthalmia

An X-linked dominant disorder characterized by congenital CATARACT, and microphthalmos and/or microcornea, septate nasal cartilage, cardiac septal defects, and dental abnormalities including including delayed or persistent primary dentition with multiple unerupted teeth, radiculomegaly, and absent, duplicated, or fused teeth. Skeletal abnormalities, CLEFT PALATE, and toe SYNDACTYLY may also occur. Mutations in the BCOR gene have been identified. OMIM: 300166

Also Known As:

Microphthalmia, syndromic 2; Cataracts, microphthalmia, radiculomegaly and septal heart defects; MCOPS2; Marashi Gorlin syndrome; Microphthalmia, cataracts, radiculomegaly, and septal heart defects; OFCD Syndrome; Oculo facio cardio dental syndrome; Oculofaciocardiodental syndrome

Networked: 16 relevant articles (0 outcomes, 3 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders)
2.	syndromic 2 Microphthalmia
3.	Inborn Genetic Diseases (Disease, Hereditary)
4.	Facies
5.	B-Cell Lymphoma (Lymphoma, B Cell)

Experts

1.	Moriyama, Keiji: 2 articles (12/2018 - 10/2015)
2.	Ogawa, Takuya: 2 articles (12/2018 - 10/2015)
3.	Bardwell, Vivian J: 2 articles (07/2008 - 04/2007)
4.	El Ayachi, I: 1 article (01/2020)
5.	Huang, G T-J: 1 article (01/2020)
6.	Lou, Y: 1 article (01/2020)
7.	Yan, X: 1 article (01/2020)
8.	Zou, X-Y: 1 article (01/2020)
9.	Arteche, Anara: 1 article (09/2019)
10.	Ayuso, Carmen: 1 article (09/2019)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to syndromic 2 Microphthalmia:

1.	Co-Repressor ProteinsIBA 03/01/2014 - "Previous studies suggest that the suppression of Pitx2 gene in the left LPM is a potential cause of cardiac/laterality defects in Oculo-Facio-Cardio-Dental (OFCD) syndrome, which is known to be caused by mutations in BCL6 co-repressor (BCOR) gene. " 06/12/2023 - "Oculofaciocardiodental syndrome is caused by variants in the BCL6 corepressor (BCOR) gene. " 01/01/2020 - "Oculofaciocardiodental (OFCD) syndrome is a developmental disorder caused by heterozygous mutations in the X-linked BCL-6 corepressor (BCOR) gene. " 12/09/2018 - "Mutations in the gene encoding BCL-6 corepressor (BCOR) are responsible for oculofaciocardiodental (OFCD) syndrome, which is a rare X-linked dominant disorder characterized by radiculomegaly of permanent teeth as the most typical symptom. " 10/24/2015 - "Mutations in the BCL-6 corepressor (BCOR) gene, which encodes a transcriptional corepressor, were described to cause oculofaciocardiodental syndrome (MIM 300166). "
2.	MorpholinosIBA 07/15/2007 - "To study the function of BCOR, we used morpholino oligonucleotides (MOs) to knockdown expression of xtBcor in Xenopus tropicalis, thus creating an animal model for OFCD syndrome. "
3.	Messenger RNA (mRNA)IBA 12/09/2018 - "Comparative expression profiling of PDL cells isolated from normal and OFCD patients revealed significant downregulation of SMAD4, GLI1, and nuclear factor 1-C (NFIC) mRNA expression, suggesting that BCOR mutations cause hyperactive root formation in OFCD syndrome by inhibiting SMAD4-Hedgehog-NFIC signaling implicated in dental root development. "

Therapies and Procedures

1.	Orthodontics 04/01/2012 - "Patient with oculo-facio-cardio-dental syndrome treated with surgical orthodontics." 01/01/2007 - "Oculofaciocardiodental syndrome and orthodontics."
2.	Orthognathic Surgery 04/01/2012 - "An 18-year-old woman with skeletal Class III malocclusion and OFCD syndrome was treated with edgewise appliance therapy combined with orthognathic surgery. "
3.	Therapeutics 04/01/2012 - "An 18-year-old woman with skeletal Class III malocclusion and OFCD syndrome was treated with edgewise appliance therapy combined with orthognathic surgery. "
4.	Crowns (Crown, Dental) 10/01/1998 - "Three unusual dental anomalies are presented which should be of interest to the pediatric radiologist: otodental syndrome - an autosomal dominant syndrome of bizarre, greatly enlarged teeth with bulbous crowns (globodontia) that spares the incisors, in combination with sensorineural hearing loss; oculo-facio-cardio-dental syndrome - an X-linked dominant syndrome that is lethal in males, characterized by congenital cataracts, unusual facies, atrial septal defect (ASD), ventricular septal defect (VSD), and canine teeth that cease to grow only when they cut off their own blood supply by growing through the orbit and lower border of mandible; and lobodontia - a dominant disorder characterized by teeth whose crowns resemble those of a wolf."