Details of Disease

General Information of Disease (ID: DIS15GVG)

Disease Name Axenfeld anomaly
Definition
Axenfeld's anomaly is a rare congenital ocular defect caused by anterior segment dysgenesis and is characterized by anteriorly displaced Schwalbe's line and iris bands extending into the cornea. In contrast, Rieger's anomaly includes characteristic iris and pupil anomalies.
Disease Hierarchy
DISB52BH: Eye disorder
DIS15GVG: Axenfeld anomaly
Disease Identifiers
MONDO ID
MONDO_0020368
MESH ID
C535679
UMLS CUI
C0266548
MedGen ID
78611
HPO ID
HP:0001492
Orphanet ID
98978
SNOMED CT ID
204152008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
FOXC1 TTNT3YA Limited Genetic Variation [1]
FOXC1 TTNT3YA Supportive Autosomal dominant [2]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
FOXC1 OTOWZGYO Supportive Autosomal dominant [2]
PITX2 OTWMXAOY Supportive Autosomal dominant [3]
COL4A1 OTL6D1YE Strong Biomarker [4]
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References

1 Pre- and postnatal phenotype of 6p25 deletions involving the FOXC1 gene.Am J Med Genet A. 2012 Oct;158A(10):2430-8. doi: 10.1002/ajmg.a.35548. Epub 2012 Aug 17.
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 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.
4 Ophthalmological features associated with COL4A1 mutations.Arch Ophthalmol. 2010 Apr;128(4):483-9. doi: 10.1001/archophthalmol.2010.42.