Axenfeld-Rieger Syndrome, Type 3 malady
Categories: Genetic diseases, Rare diseases, Eye diseases, Fetal diseases
50OMIM, 11Disease Ontology, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 37MeSH, 66UMLS, 28ICD10, 29ICD10 via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
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Aliases & Descriptions for Axenfeld-Rieger Syndrome, Type 3:
Orphanet epidemiological data:52
Inheritance: Autosomal dominant; Age of onset: Neonatal; Age of death: normal life expectancy
Inheritance: Autosomal dominant
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Eye diseases
ICD10: 29 28
NIH Rare Diseases:46 Axenfeld-rieger syndrome is a group of eye disorders that affects the development of the eye. common eye symptoms include cornea defects, which is the clear covering on the front of the eye, and iris defects, which is the colored part of the eye. people with this syndrome may have an off-center pupil (corectopia) or extra holes in the eyes that can look like multiple pupils (polycoria). about 50% of people with this syndrome develop glaucoma, which is a serious condition that increases pressure inside of the eye. this may cause vision loss or blindness. click here to view a diagram of the eye. even though axenfeld-rieger syndrome is primarily an eye disorder, this syndrome is also associated with symptoms that affect other parts of the body. most people with this syndrome have distinctive facial features and many have issues with their teeth, including unusually small teeth (microdontia) or fewer than normal teeth (oligodontia). some people have extra folds of skin around their belly button, heart defects, or other more rare birth defects. there are three types of axenfeld-rieger syndrome and each has a different genetic cause. axenfeld-rieger syndrome type 1 is caused by spelling mistakes (mutations) in the pitx2 gene. axenfeld-rieger syndrome type 3 is caused by mutations in the foxc1 gene. the gene that causes axenfeld-rieger syndrome type 2 is not known, but it is located on chromosome 13. axenfeld-rieger syndrome has an autosomal dominant pattern of inheritance. last updated: 1/3/2016
MalaCards based summary: Axenfeld-Rieger Syndrome, Type 3, also known as axenfeld-rieger syndrome, is related to tolosa-hunt syndrome and familial hyperaldosteronism, and has symptoms including abnormality of the anterior chamber, posterior embryotoxon and aplasia/hypoplasia of the iris. An important gene associated with Axenfeld-Rieger Syndrome, Type 3 is FOXC1 (Forkhead Box C1), and among its related pathways is Heart Development. Affiliated tissues include eye, skin and heart, and related mouse phenotypes are muscle and vision/eye.
Disease Ontology:11 An autosomal dominant disease characterized by abnormalities of the front part of the eye, the anterior segment.
UniProtKB/Swiss-Prot:68 Axenfeld-Rieger syndrome 3: 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. Features include posterior corneal embryotoxon, prominent Schwalbe line and iris adhesion to the Schwalbe line, hypertelorism, hypodontia, sensorineural deafness, redundant periumbilical skin, and cardiovascular defects such as patent ductus arteriosus and atrial septal defect. When associated with tooth anomalies, the disorder is known as Rieger syndrome.
Genetics Home Reference:24 Axenfeld-Rieger syndrome is primarily an eye disorder, although it can also affect other parts of the body. This condition is characterized by abnormalities of the front part of the eye, an area known as the anterior segment. For example, the colored part of the eye (the iris), may be thin or poorly developed. The iris normally has a single central hole, called the pupil, through which light enters the eye. People with Axenfeld-Rieger syndrome often have a pupil that is off-center (corectopia) or extra holes in the iris that can look like multiple pupils (polycoria). This condition can also cause abnormalities of the cornea, which is the clear front covering of the eye.
Description from OMIM:50 602482
HPO human phenotypes related to Axenfeld-Rieger Syndrome, Type 3:(show all 32)
MalaCards organs/tissues related to Axenfeld-Rieger Syndrome, Type 3:34
Eye, Skin, Heart, Pituitary, Hypothalamus
UniProtKB/Swiss-Prot genetic disease variations for Axenfeld-Rieger Syndrome, Type 3:68 (show all 18)
Clinvar genetic disease variations for Axenfeld-Rieger Syndrome, Type 3:5
Search GEO for disease gene expression data for Axenfeld-Rieger Syndrome, Type 3.
Biological processes related to Axenfeld-Rieger Syndrome, Type 3 according to GeneCards Suite gene sharing:(show all 13)
Molecular functions related to Axenfeld-Rieger Syndrome, Type 3 according to GeneCards Suite gene sharing:(show all 7)
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet