RIEG3
MCID: AXN005
MIFTS: 19

Axenfeld-Rieger Syndrome Type 3 (RIEG3) malady

Summaries for Axenfeld-Rieger Syndrome Type 3

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42NIH Rare Diseases, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Axenfeld-rieger syndrome refers to a spectrum of developmental eye disorders. common eye symptoms include cornea defects, iris defects, and glaucoma. about 50% of affected individuals become blind from glaucoma. other associated developmental defects commonly involve the teeth and facial bones. . click here to view a diagram of the eye. there are three types of axenfeld-rieger syndrome, which are distinguished by their genetic cause. axenfeld-rieger syndrome type 1 is caused by mutations in the pitx2 gene and axenfeld-rieger syndrome type 3 is caused by mutations in the foxc1 gene. the gene that causes axenfeld-rieger syndrome type 2 has not yet been identified, but it is located on chromosome 13. axenfeld-rieger syndrome has an autosomal dominant pattern of inheritance. last updated: 4/11/2011

MalaCards: Axenfeld-Rieger Syndrome Type 3, also known as axenfeld-rieger syndrome, type 3, is related to axenfeld-rieger syndrome and axenfeld-rieger syndrome type 1. An important gene associated with Axenfeld-Rieger Syndrome Type 3 is FOXC1 (forkhead box C1). Affiliated tissues include eye and bone.

Description from OMIM:46 602482

Aliases & Classifications for Axenfeld-Rieger Syndrome Type 3

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42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 60UMLS
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Aliases & Descriptions:

axenfeld-rieger syndrome type 3 42 20 22
axenfeld-rieger syndrome, type 3 46 60
axenfeld-rieger anomaly with or without cardiac defects and/or sensorineural hearing loss 42
anterior chamber cleavage syndrome 42
rieger syndrome type 3 42
rieg3 42


Related Diseases for Axenfeld-Rieger Syndrome Type 3

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17GeneCards, 18GeneDecks
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Diseases in the Axenfeld-Rieger Syndrome Type 1 family:

Axenfeld-Rieger Syndrome axenfeld-rieger syndrome type 3
Axenfeld-Rieger Syndrome Type 2

Diseases related to Axenfeld-Rieger Syndrome Type 3 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1axenfeld-rieger syndrome10.4
2axenfeld-rieger syndrome type 110.4
3axenfeld-rieger syndrome type 210.4

Clinical Features for Axenfeld-Rieger Syndrome Type 3

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46OMIM
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Clinical features from OMIM:

602482

Drugs & Therapeutics for Axenfeld-Rieger Syndrome Type 3

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Axenfeld-Rieger Syndrome Type 3

Drug clinical trials:

Search ClinicalTrials for Axenfeld-Rieger Syndrome Type 3

Search NIH Clinical Center for Axenfeld-Rieger Syndrome Type 3

Search CenterWatch for Axenfeld-Rieger Syndrome Type 3

Genetic Tests for Axenfeld-Rieger Syndrome Type 3

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20GeneTests, 22GTR
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Genetic tests related to Axenfeld-Rieger Syndrome Type 3:

id Genetic test Affiliating Genes
1 Axenfeld-Rieger Syndrome, Type 320 FOXC1
2 Axenfeld-Rieger Syndrome Type 322

Anatomical Context for Axenfeld-Rieger Syndrome Type 3

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32MalaCards
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MalaCards organs/tissues related to Axenfeld-Rieger Syndrome Type 3:

32
Eye, Bone

Animal Models for Axenfeld-Rieger Syndrome Type 3 or affiliated genes

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Publications for Axenfeld-Rieger Syndrome Type 3

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Genetic Variations for Axenfeld-Rieger Syndrome Type 3

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Axenfeld-Rieger Syndrome Type 3:

62
id Symbol AA change Variation ID SNP ID
1FOXC1p.Leu130PheVAR_058730

Expression for genes affiliated with Axenfeld-Rieger Syndrome Type 3

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Axenfeld-Rieger Syndrome Type 3

Search GEO for disease gene expression data for Axenfeld-Rieger Syndrome Type 3.

Pathways for genes affiliated with Axenfeld-Rieger Syndrome Type 3

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Compounds for genes affiliated with Axenfeld-Rieger Syndrome Type 3

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GO Terms for genes affiliated with Axenfeld-Rieger Syndrome Type 3

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Products for genes affiliated with Axenfeld-Rieger Syndrome Type 3

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Axenfeld-Rieger Syndrome Type 3

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet