Details of Disease

General Information of Disease (ID: DISERK0M)

• Disease Name: Peters anomaly
• Synonyms: ASGD5; anterior segment dysgenesis 5; Peters congenital glaucoma; Peters anomaly (disease); anterior segment dysgenesis 5, multiple subtypes; Peters anomaly
• Definition: Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane.
• Disease Hierarchy:
  DISTUIM1: Corneal disease
  DIS12OKO: Anterior segment dysgenesis
  DISERK0M: Peters anomaly
• Disease Identifiers:
  MONDO ID: MONDO_0011414
  MESH ID: C537884
  UMLS CUI: C0344559
  MedGen ID: 91031
  HPO ID: HP:0000659
  Orphanet ID: 708
  SNOMED CT ID: 204153003

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CYP1B1	TTI84H7	Limited	Genetic Variation	[1]
FOXC1	TTNT3YA	Strong	Genetic Variation	[2]
FOXC1	TTNT3YA	Definitive	Autosomal dominant	[3]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC4A11	DTH2J1G	Strong	Biomarker	[4]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
CYP1B1	DE9QHP6	Supportive	Autosomal dominant	[5]

This Disease Is Related to 15 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CYP1B1	OTYXFLSD	Supportive	Autosomal dominant	[5]
FOXE3	OTAUDKC1	Supportive	Autosomal dominant	[6]
PITX3	OTE2KT8P	moderate	Biomarker	[7]
FOXD3	OTXYV6GO	Strong	Biomarker	[8]
KERA	OTAP9L2A	Strong	Biomarker	[9]
NDP	OTGDJ4US	Strong	Biomarker	[4]
OAF	OTOR9CR5	Strong	Biomarker	[10]
PAX1	OT0Y3MIM	Strong	Genetic Variation	[11]
RBL2	OTBQSOE6	Strong	Genetic Variation	[12]
SHOX	OTE0YZJO	Strong	Genetic Variation	[13]
SOSTDC1	OTAKDNSM	Strong	Altered Expression	[14]
B3GLCT	OTXH6KOQ	Definitive	Genetic Variation	[15]
FOXC1	OTOWZGYO	Definitive	Autosomal dominant	[3]
PAX6	OTOC9876	Definitive	Autosomal dominant	[3]
PITX2	OTWMXAOY	Definitive	Autosomal dominant	[3]

References

• [1] A case of 22q11.2 deletion syndrome with Peters anomaly, congenital glaucoma, and heterozygous mutation in CYP1B1.Ophthalmic Genet. 2015 Mar;36(1):92-4. doi: 10.3109/13816810.2013.835432. Epub 2013 Sep 11.
• [2] A novel mutation in the FOXC1 gene in a family with Axenfeld-Rieger syndrome and Peters' anomaly.Clin Genet. 2008 Nov;74(5):476-80. doi: 10.1111/j.1399-0004.2008.01025.x. Epub 2008 May 21.
• [3] Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.
• [4] Whole exome sequence analysis of Peters anomaly.Hum Genet. 2014 Dec;133(12):1497-511. doi: 10.1007/s00439-014-1481-x. Epub 2014 Sep 3.
• [5] Phenotypic heterogeneity of CYP1B1: mutations in a patient with Peters' anomaly. J Med Genet. 2001 May;38(5):324-6. doi: 10.1136/jmg.38.5.324.
• [6] FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1. Nat Commun. 2016 Apr 6;7:10953. doi: 10.1038/ncomms10953.
• [7] Identification of PITX3 mutations in individuals with various ocular developmental defects. Ophthalmic Genet. 2018 Jun;39(3):314-320. doi: 10.1080/13816810.2018.1430243. Epub 2018 Feb 6.
• [8] Analysis of FOXD3 sequence variation in human ocular disease.Mol Vis. 2012;18:1740-9. Epub 2012 Jun 27.
• [9] Keratocan and lumican regulate neutrophil infiltration and corneal clarity in lipopolysaccharide-induced keratitis by direct interaction with CXCL1.J Biol Chem. 2007 Dec 7;282(49):35502-9. doi: 10.1074/jbc.M705823200. Epub 2007 Oct 2.
• [10] Identification of OAF and PVRL1 as candidate genes for an ocular anomaly characterized by Peters anomaly type 2 and ectopia lentis.Exp Eye Res. 2018 Mar;168:161-170. doi: 10.1016/j.exer.2017.12.012. Epub 2018 Jan 2.
• [11] Reciprocal effect of Waardenburg syndrome mutations on DNA binding by the Pax-3 paired domain and homeodomain.Hum Mol Genet. 1997 Oct;6(11):1781-90. doi: 10.1093/hmg/6.11.1781.
• [12] Unilateral retinoblastoma in an eye with Peters anomaly.J AAPOS. 2010 Apr;14(2):184-6. doi: 10.1016/j.jaapos.2010.02.005.
• [13] Brachymesomelic dysplasia with Peters anomaly of the eye results from disruptions of the X chromosome near the SHOX and SOX3 genes.Am J Med Genet A. 2007 Dec 1;143A(23):2785-95. doi: 10.1002/ajmg.a.32036.
• [14] Sostdc1 is expressed in all major compartments of developing and adult mammalian eyes.Graefes Arch Clin Exp Ophthalmol. 2019 Nov;257(11):2401-2427. doi: 10.1007/s00417-019-04462-4. Epub 2019 Sep 16.
• [15] Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes.Clin Genet. 2014 Aug;86(2):142-8. doi: 10.1111/cge.12241. Epub 2013 Sep 17.