Details of Disease

General Information of Disease (ID: DIS0YYSM)

Disease Name Axenfeld-Rieger syndrome type 3
Synonyms
Axenfeld-Rieger anomaly with or without Cardiac defects and/or sensorineural hearing loss; Axenfeld anomaly; Axenfeld-Rieger syndrome, type 3; Rieger anomaly; Axenfeld-Rieger anomaly with Cardiac defects and/Or sensorineural hearing loss; Axenfeld-Rieger anomaly; anterior chamber Cleavage syndrome; Rieger syndrome, type 3; anterior segment mesenchymal dysgenesis; Axenfeld-Rieger syndrome type 3; Rieger syndrome type 3; Axenfeld-Rieger syndrome caused by mutation in FOXC1; RIEG3; anterior chamber cleavage syndrome; FOXC1 Axenfeld-Rieger syndrome; Axenfeld-Rieger anomaly with or without cardiac defects and/or sensorineural hearing loss
Definition Any Axenfeld-Rieger syndrome in which the cause of the disease is a mutation in the FOXC1 gene.
Disease Hierarchy
DISYOU7C: FOXC1-related anterior segment dysgenesis
DIS6XY4L: Axenfeld-Rieger syndrome
DIS0YYSM: Axenfeld-Rieger syndrome type 3
Disease Identifiers
MONDO ID
MONDO_0011233
MESH ID
C535679
UMLS CUI
C2678503
OMIM ID
602482
MedGen ID
394534

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 Genetic Variation [1]
BMP4 TTD3BSX Strong Biomarker [2]
FOXC1 TTNT3YA Definitive Autosomal dominant [3]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
COL4A1 OTL6D1YE Limited Biomarker [4]
FOXC1 OTOWZGYO Definitive Autosomal dominant [3]
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References

1 Comparison of Bioinformatics Prediction, Molecular Modeling, and Functional Analyses of FOXC1 Mutations in Patients with Axenfeld-Rieger Syndrome.Hum Mutat. 2017 Feb;38(2):169-179. doi: 10.1002/humu.23141. Epub 2016 Nov 21.
2 The role of bone morphogenetic protein 4 in inner ear development and function.Hear Res. 2007 Mar;225(1-2):71-9. doi: 10.1016/j.heares.2006.12.010. Epub 2006 Dec 28.
3 Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly. Am J Hum Genet. 1998 Nov;63(5):1316-28. doi: 10.1086/302109.
4 Ophthalmological features associated with COL4A1 mutations.Arch Ophthalmol. 2010 Apr;128(4):483-9. doi: 10.1001/archophthalmol.2010.42.