Details of Disease

General Information of Disease (ID: DISNBLZ5)

Disease Name Rieger anomaly
Definition
Rieger's anomaly is a congenital ocular defect caused by anterior segment dysgenesis and is characterized by severe anterior chamber deformity with prominent strands and marked atrophy of the iris stroma, with hole or pseudo-hole formation and corectopia. The term covers the association of these iris and pupil anomalies with the features of AxenfeldBs anomaly.
Disease Hierarchy
DISXDY8A: Iridogoniodysgenesis
DISNBLZ5: Rieger anomaly
Disease Identifiers
MONDO ID
MONDO_0019628
MESH ID
C535679
UMLS CUI
C0265341
MedGen ID
78558
HPO ID
HP:0000558
Orphanet ID
91483
SNOMED CT ID
47507006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
FOXC1 TTNT3YA Limited GermlineCausalMutation [1]
FOXC1 TTNT3YA Supportive Autosomal dominant [2]
PLOD1 TTEKJP3 Strong Altered Expression [3]
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This Disease Is Related to 6 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
COL4A1 OTL6D1YE Limited Biomarker [4]
PTCH1 OTMG07H5 Limited Genetic Variation [5]
FOXC1 OTOWZGYO Supportive Autosomal dominant [2]
PITX2 OTWMXAOY Supportive Autosomal dominant [1]
PIK3R1 OT5BZ1J9 Strong Biomarker [6]
DLX2 OTKC2DQ0 Definitive Genetic Variation [7]
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⏷ Show the Full List of 6 DOT(s)

References

1 Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations. Eur J Hum Genet. 2009 Dec;17(12):1527-39. doi: 10.1038/ejhg.2009.93. Epub 2009 Jun 10.
2 The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25. Nat Genet. 1998 Jun;19(2):140-7. doi: 10.1038/493.
3 PITX2 regulates procollagen lysyl hydroxylase (PLOD) gene expression: implications for the pathology of Rieger syndrome.J Cell Biol. 2001 Feb 5;152(3):545-52. doi: 10.1083/jcb.152.3.545.
4 Ophthalmological features associated with COL4A1 mutations.Arch Ophthalmol. 2010 Apr;128(4):483-9. doi: 10.1001/archophthalmol.2010.42.
5 Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network.Genome Res. 2016 Apr;26(4):474-85. doi: 10.1101/gr.196048.115. Epub 2016 Feb 18.
6 Iris Malformation and Anterior Segment Dysgenesis in Mice and Humans With a Mutation in PI 3-Kinase.Invest Ophthalmol Vis Sci. 2017 Jun 1;58(7):3100-3106. doi: 10.1167/iovs.16-21347.
7 A molecular basis for differential developmental anomalies in Axenfeld-Rieger syndrome. Hum Mol Genet. 2002 Apr 1;11(7):743-53. doi: 10.1093/hmg/11.7.743.