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GTR Home > Conditions/Phenotypes > Axenfeld-Rieger syndrome type 1

Axenfeld-Rieger syndrome type 1

Synonyms
Rieger syndrome type 1

Summary

Axenfeld-Rieger syndrome is an autosomal dominant disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals (Fitch and Kaback, 1978). Systemic anomalies are associated, including dental hypoplasia, failure of involution of periumbilical skin, and maxillary hypoplasia (Alkemade, 1969). Genetic Heterogeneity of Axenfeld-Rieger Syndrome Linkage studies indicate that a second type of Axenfeld-Rieger syndrome maps to chromosome 13q14 (RIEG2; 601499). A third form of Axenfeld-Rieger syndrome (RIEG3; 602482) is caused by mutation in the FOXC1 gene (601090) on chromosome 6p25. See 109120 for a form of Axenfeld-Rieger syndrome associated with partially absent eye muscles, hydrocephalus, and skeletal abnormalities. [from OMIM]

Available tests

69 tests are in the database for this condition.

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Clinical tests (68 available)

Molecular Genetics Tests

Research tests

Genes See tests for all associated and related genes

  • Also known as: ARP1, ASGD4, Brx1, IDG2, IGDS, IGDS2, IHG2, IRID2, Otlx2, PTX2, RGS, RIEG, RIEG1, RS, PITX2
    Summary: paired like homeodomain 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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