RIEG3
MCID: AXN005
MIFTS: 22

Axenfeld-Rieger Syndrome Type 3 (RIEG3) malady

Genetic diseases, Rare diseases, Eye diseases, Endocrine diseases, Fetal diseases categories

Summaries for Axenfeld-Rieger Syndrome Type 3

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44NIH Rare Diseases, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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:48 602482

Aliases & Classifications for Axenfeld-Rieger Syndrome Type 3

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44NIH Rare Diseases, 21GeneTests, 23GTR, 48OMIM, 63UMLS
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Classifications:



Aliases & Descriptions:

axenfeld-rieger syndrome type 3 44 21 23
axenfeld-rieger syndrome, type 3 48 63
axenfeld-rieger anomaly with or without cardiac defects and/or sensorineural hearing loss 44
anterior chamber cleavage syndrome 44
rieger syndrome type 3 44
rieg3 44


Related Diseases for Axenfeld-Rieger Syndrome Type 3

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18GeneCards, 19GeneDecks
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Diseases in the Axenfeld-Rieger Syndrome Type 1 family:

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

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

Symptoms for Axenfeld-Rieger Syndrome Type 3

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48OMIM
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Clinical features from OMIM:

602482

Drugs & Therapeutics for Axenfeld-Rieger Syndrome Type 3

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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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21GeneTests, 23GTR
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Genetic tests related to Axenfeld-Rieger Syndrome Type 3:

id Genetic test Affiliating Genes
1 Axenfeld-Rieger Syndrome, Type 321 FOXC1
2 Axenfeld-Rieger Syndrome Type 323

Anatomical Context for Axenfeld-Rieger Syndrome Type 3

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34MalaCards
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MalaCards organs/tissues related to Axenfeld-Rieger Syndrome Type 3:

34
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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Variations for Axenfeld-Rieger Syndrome Type 3

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Axenfeld-Rieger Syndrome Type 3:

65
id Symbol AA change Variation ID SNP ID
1FOXC1p.Leu130PheVAR_058730

Clinvar genetic disease variations for Axenfeld-Rieger Syndrome Type 3:

1
id Gene Name Type Significance SNP ID Assembly Location
1FOXC1FOXC1, 11-BP DELdeletionPathogenic
2FOXC1NM_001453.2(FOXC1): c.392C> T (p.Ser131Leu)single nucleotide variantPathogenicrs104893957GRCh37Chr 6, 1611072: 1611072
3FOXC1NM_001453.2(FOXC1): c.335T> C (p.Phe112Ser)single nucleotide variantPathogenicrs104893951GRCh37Chr 6, 1611015: 1611015
4FOXC1NM_001453.2(FOXC1): c.67C> T (p.Gln23Ter)single nucleotide variantPathogenicrs104893952GRCh37Chr 6, 1610747: 1610747
5FOXC1NM_001453.2(FOXC1): c.245G> C (p.Ser82Thr)single nucleotide variantPathogenicrs104893953GRCh37Chr 6, 1610925: 1610925
6FOXC1NM_001453.2(FOXC1): c.388C> T (p.Leu130Phe)single nucleotide variantPathogenicrs121909338GRCh37Chr 6, 1611068: 1611068
7FOXC1NM_001453.2(FOXC1): c.358C> T (p.Gln120Ter)single nucleotide variantPathogenicrs121909339GRCh37Chr 6, 1611038: 1611038

Expression for genes affiliated with Axenfeld-Rieger Syndrome Type 3

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2BioGPS, 16Gene 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
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  • Antibodies

Sources for Axenfeld-Rieger Syndrome Type 3

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet