Details of Disease

General Information of Disease (ID: DISCJK7U)

Disease Name Axenfeld-Rieger syndrome type 1
Synonyms
Rieger syndrome, type 1; Rgs; Axenfeld-Rieger syndrome, type 1; Rieg; RIEG1; Rieger syndrome type 1; Axenfeld-Rieger syndrome caused by mutation in PITX2; PITX2 Axenfeld-Rieger syndrome; Axenfeld-Rieger syndrome type 1
Definition A rare autosomal dominant syndrome linked to mutations in the PITX2 gene. It is characterized by abnormalities in the anterior chamber of the eye and underdevelopment of the teeth.
Disease Hierarchy
DIS6XY4L: Axenfeld-Rieger syndrome
DISCJK7U: Axenfeld-Rieger syndrome type 1
Disease Identifiers
MONDO ID
MONDO_0008386
MESH ID
C535679
UMLS CUI
C3714873
OMIM ID
180500
MedGen ID
811487

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
FOXC1 TTNT3YA moderate Biomarker [1]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
COL4A1 OTL6D1YE Limited Biomarker [2]
PAX6 OTOC9876 moderate Biomarker [1]
PITX2 OTWMXAOY Definitive Autosomal dominant [3]
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References

1 Novel identification of a four-base-pair deletion mutation in PITX2 in a Rieger syndrome family.J Dent Res. 2003 Dec;82(12):1008-12. doi: 10.1177/154405910308201214.
2 Ophthalmological features associated with COL4A1 mutations.Arch Ophthalmol. 2010 Apr;128(4):483-9. doi: 10.1001/archophthalmol.2010.42.
3 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.