RIEG3
MCID: AXN005
MIFTS: 22

Axenfeld-Rieger Syndrome Type 3 (RIEG3) malady

Genetic diseases, Rare diseases, Eye diseases, Endocrine diseases, Fetal diseases categories
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Summaries for Axenfeld-Rieger Syndrome Type 3

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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 based summary: Axenfeld-Rieger Syndrome Type 3, also known as anterior chamber cleavage syndrome, 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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Axenfeld-Rieger Syndrome Type 3, Aliases & Descriptions:

Name: Axenfeld-Rieger Syndrome Type 3 42 20 22
Anterior Chamber Cleavage Syndrome 42 62
Axenfeld-Rieger Syndrome, Type 3 46 62
 
Axenfeld-Rieger Anomaly with or Without Cardiac Defects and/or Sensorineural Hearing Loss 42
Rieger Syndrome Type 3 42
Rieg3 42


Classifications:



Related Diseases for Axenfeld-Rieger Syndrome Type 3

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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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Clinical features from OMIM:

602482

Drugs & Therapeutics for Axenfeld-Rieger Syndrome Type 3

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Drug clinical trials:

Search ClinicalTrials for Axenfeld-Rieger Syndrome Type 3

Search NIH Clinical Center for Axenfeld-Rieger Syndrome Type 3

Genetic Tests for Axenfeld-Rieger Syndrome Type 3

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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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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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Variations for Axenfeld-Rieger Syndrome Type 3

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UniProtKB/Swiss-Prot genetic disease variations for Axenfeld-Rieger Syndrome Type 3:

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

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

6
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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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet