Axenfeld-Rieger syndrome type 1
Axenfeld-Rieger syndrome type 1: An Axenfeld-Rieger syndrome that has material basis in heterozygous mutation in the homeobox transcription factor gene PITX2 on chromosome 4q25.
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Axenfeld-Rieger syndrome type 1: An Axenfeld-Rieger syndrome that has material basis in heterozygous mutation in the homeobox transcription factor gene PITX2 on chromosome 4q25.
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Symptoms of Axenfeld-Rieger syndrome type 1
Clinical features: Imported from Human Phenotype Ontology (HPO)
- Abnormality of head or neck
- Hypoplasia of the maxilla
- Partial congenital absence of teeth
- Prominent supraorbital ridges
- Short philtrum
- Thin upper lip vermilion
- Abnormality of the abdomen
- Anal stenosis
- Imperforate anus
- Abnormality ...
Genetics of Axenfeld-Rieger syndrome type 1
Modes of inheritance:
Autosomal dominant inheritance (HPO)
...Source: GTR (NCBI/NIH)3
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Treatments
See also the following treatment articles:
Names and Terminology
Synonyms:
Axenfeld-Rieger syndrome ; Rieger syndrome type 1
...Source: GTR (NCBI/NIH)4
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References
- Source: Disease Ontology
- Source: Monarch Initiative
- Source: GTR (NCBI/NIH): ncbi.nlm.nih.gov/ gtr/ conditions/ C3714873/
- ibid.
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