Details of Disease | DrugMAP

General Information of Disease (ID: DIS6XY4L)

Disease Name	Axenfeld-Rieger syndrome
Synonyms	iridogoniodysgenesis with somatic anomalies; goniodysgenesis hypodontia; Hagedoom syndrome; RGS - Rieger syndrome; Axenfeldt-Rieger syndrome; Rieger's anomaly; anomaly, Rieger's; Axenfeld syndrome; Rieger syndrome
Definition	Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies.
Disease Hierarchy	DIS6SVEE: Syndromic disease DISYKSRF: Genetic disease DIS2IQBH: Neurocristopathy DISD0WVL: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability DIS6XY4L: Axenfeld-Rieger syndrome
Disease Identifiers	MONDO ID MONDO_0019187 UMLS CUI C3495488 MedGen ID 501192 Orphanet ID 782 SNOMED CT ID 417604002

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	Supportive	Autosomal dominant	[1]
FOXC1	TTNT3YA	Strong	Altered Expression	[2]
PLOD1	TTEKJP3	Strong	Altered Expression	[3]
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This Disease Is Related to 7 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COL4A1	OTL6D1YE	Limited	Biomarker	[4]
FOXC1	OTOWZGYO	Supportive	Autosomal dominant	[1]
PITX2	OTWMXAOY	Supportive	Autosomal dominant	[1]
MYOC	OT6DAHNF	Strong	Genetic Variation	[5]
PRDM5	OTU1GB68	Strong	Genetic Variation	[6]
SH3PXD2B	OTAOMCDJ	Strong	Biomarker	[7]
DLX2	OTKC2DQ0	Definitive	Genetic Variation	[8]
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⏷ Show the Full List of 7 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 Diverse Consequences of FOXC1 Deregulation in Cancer.Cancers (Basel). 2019 Feb 5;11(2):184. doi: 10.3390/cancers11020184.
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	Survey of familial glaucoma shows a high incidence of cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in non-consanguineous congenital forms in a Spanish population.Mol Vis. 2013 Aug 4;19:1707-22. Print 2013.
6	Whole exome sequencing identifies a heterozygous missense variant in the PRDM5 gene in a family with Axenfeld-Rieger syndrome.Neurogenetics. 2016 Jan;17(1):17-23. doi: 10.1007/s10048-015-0462-0. Epub 2015 Oct 21.
7	Localization of SH3PXD2B in human eyes and detection of rare variants in patients with anterior segment diseases and glaucoma.Mol Vis. 2012;18:705-13. Epub 2012 Mar 26.
8	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.