syndromic 1 Microphthalmia

Also Known As:

Microphthalmia, syndromic 1; Lenz Dysmorphogenic Syndrome; Lenz Syndrome; Lenz dysplasia; Lenz microphthalmia syndrome; MCOPS1; MCOPS4; Microphthalmia Or Anophthalmos with Associated Anomalies; Microphthalmia With Ankyloblepharon And Mental Retardation; Microphthalmia or anophthalmos with associated anomalies (formerly); Microphthalmia, Syndromic 4

Networked: 11 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	B-Cell Lymphoma (Lymphoma, B Cell)
2.	Kyphosis
3.	Combined Pituitary Hormone Deficiency

Experts

1.	Biesecker, Leslie G: 3 articles (01/2019 - 04/2004)
2.	Johnston, Jennifer J: 2 articles (01/2019 - 03/2014)
3.	Li, Yun: 2 articles (06/2013 - 05/2010)
4.	Wollnik, Bernd: 2 articles (06/2013 - 05/2010)
5.	De Marco, Raffaele: 1 article (01/2021)
6.	Garbossa, Diego: 1 article (01/2021)
7.	Monticelli, Matteo: 1 article (01/2021)
8.	Ansari, Morad: 1 article (01/2019)
9.	Black, Graeme Cm: 1 article (01/2019)
10.	Chapman, Heather M: 1 article (01/2019)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to syndromic 1 Microphthalmia:

1.	Co-Repressor ProteinsIBA 11/01/2013 - "In 2004, it was reported that the missense mutation (BCL-6 co-repressor gene [BCOR] c.254C>T, p.P85L) in a single family with Lenz microphthalmia syndrome co-segregated with the disease phenotype. " 04/01/2004 - "We identified a substitution, nt 254C-->T; P85L, in BCOR (encoding BCL-6-interacting corepressor, BCOR) in affected males from the family with Lenz syndrome previously used to identify the MAA2 locus. " 01/01/2021 - "Lenz microphthalmia syndrome (LMS) is an allelic X-linked syndrome correlated to a null mutation of B cell lymphoma (BCL-6) corepressor (BCOR) gene, which is essential in the early embryonic development. "
2.	beta CateninIBA 05/14/2010 - "LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome."
3.	Nonsense Codon (Nonsense Mutation)IBA 06/01/2013 - "We report on a child with severe Cenani-Lenz syndrome caused by a novel homozygous nonsense mutation in LRP4. "
4.	Tretinoin (Retinoic Acid)FDA LinkGeneric 03/01/2014 - "A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome."
5.	Proteins (Proteins, Gene)FDA Link 04/01/2016 - "Moreover, we compared the effect of this novel variant to mutations causing Cenani-Lenz syndrome and show that impaired membrane trafficking of the LRP4 protein is the likely mechanism underlying Cenani-Lenz syndrome. "
6.	Anesthetics (Anesthetic Agents)IBA 09/01/1998 - "[Anesthetic management of a child with Lenz dysplasia associated with panhypopituitarism]."
7.	AcetyltransferasesIBA 01/01/2019 - "A single variant in NAA10 (c.471+2T>A), the gene encoding N-acetyltransferase 10, has been associated with Lenz microphthalmia syndrome. "
8.	ForminsIBA 03/01/2001 - "Cenani-Lenz syndrome with renal hypoplasia is not linked to FORMIN or GREMLIN."

Therapies and Procedures

1.	Spinal Fusion (Spondylosyndesis) 09/01/2011 - "We recommend close monitoring and early surgical intervention with posterior spinal fusion for congenital kyphosis in patients diagnosed with Lenz microphthalmia syndrome. "
2.	General Anesthesia 09/01/1998 - "A 12 month-old boy with Lenz dysplasia was scheduled for plasty of the lip and basis of the nasal cavity under general anesthesia. "