ARS
MCID: AXN002
MIFTS: 57

Axenfeld-Rieger Syndrome (ARS) malady

Summaries for Axenfeld-Rieger Syndrome

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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, also known as rieger syndrome, is related to aniridia and developmental disabilities. An important gene associated with Axenfeld-Rieger Syndrome is FOXC1 (forkhead box C1), and among its related pathways is Heart Development. The compounds ptx1 and 12-o-tetradecanoylphorbol 13-acetate have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and endothelial, and related mouse phenotypes are vision/eye and respiratory system.

Genetics Home Reference:21 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.

Wikipedia:64 Axenfeld syndrome (also known as Axenfeld-Rieger syndrome or Hagedoom syndrome) is a rare autosomal... more...

Description from OMIM:47 180500,602482

Aliases & Classifications for Axenfeld-Rieger Syndrome

Sources:
8Disease Ontology, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 61UMLS, 45Novoseek, 47OMIM, 35MeSH, 40NCIt, 57SNOMED-CT
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Aliases & Descriptions:

axenfeld-rieger syndrome 8 43 20 22 21 10
rieger syndrome 43 22 21 45 61
axenfeld syndrome 8 22 21 61
iridogoniodysgenesis with somatic anomalies 43
rieger or axenfeld anomalies 47
axenfeld and rieger anomaly 21
goniodysgenesis hypodontia 43
rgs - rieger syndrome 8
anomaly, rieger's 8
rieger's anomaly 8
axenfeld anomaly 21
rieger anomaly 21
axrs 21
axra 21
ars 21


External Ids:

Disease Ontology8 DOID:14686
MeSH35 C535679
NCIt40 C75015

Related Diseases for Axenfeld-Rieger Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

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 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 4072)
idRelated DiseaseScoreTop Affiliating Genes
1aniridia30.4FOXC1, PITX2
2developmental disabilities30.0FOXC1, FOXP2, PITX2, GJA1
3primary congenital glaucoma29.5CYP1B1
4hypoplastic left heart syndrome29.5SMYD1, GJA1
5peters plus syndrome29.1PITX2, FOXC1, CYP1B1
6axenfeld-rieger syndrome type 110.9
7axenfeld-rieger syndrome type 310.8
8axenfeld-rieger syndrome type 210.8
9arthritis10.7
10acute leukemia10.6
11insulin resistance10.6
12colorectal cancer10.6
13hepatitis c10.6
14squamous cell carcinoma10.6
15asthma10.6
16adenocarcinoma10.6
17hepatitis a10.5
18atherosclerosis10.5
19alzheimer's disease10.5
20n syndrome10.5
21systemic lupus erythematosus10.5
22coronary artery disease,10.5
23acute myeloid leukemia10.5
24adenoma10.5
25micro syndrome10.4
26polycystic ovary syndrome10.4
27hypoxia10.4
28tuberculosis10.4
29t-cell leukemia10.4
30sepsis10.4
31hepatitis c virus10.4
32atopic dermatitis10.4
33hepatitis d10.4
34osteoarthritis10.4
35cystic fibrosis10.4
36amyotrophic lateral sclerosis10.4
37ulcerative colitis10.3
38infertility10.3
39lymphoma, diffuse large cell10.3
40parkinson's disease10.3
41vascular disease10.3
42lateral sclerosis10.3
43ataxia10.3
44coronary heart disease10.3
45androgen insensitivity syndrome10.3
46brain disease10.3
47hepatitis e10.3
48lip disease10.3
49crohn's disease10.3
50chronic myeloid leukemia10.3

Graphical network of the top 20 diseases related to Axenfeld-Rieger Syndrome:



Diseases related to axenfeld-rieger syndrome

Clinical Features for Axenfeld-Rieger Syndrome

Sources:
47OMIM
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Clinical features from OMIM:

180500,602482

Clinical synopsis from OMIM:

602482

Drugs & Therapeutics for Axenfeld-Rieger Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Axenfeld-Rieger Syndrome

Drug clinical trials:

Search ClinicalTrials for Axenfeld-Rieger Syndrome

Search NIH Clinical Center for Axenfeld-Rieger Syndrome

Search CenterWatch for Axenfeld-Rieger Syndrome

Genetic Tests for Axenfeld-Rieger Syndrome

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

id Genetic test Affiliating Genes
1 Axenfeld-rieger Syndrome20 PITX2
2 Axenfeld-rieger Anomaly22
3 Rieger Syndrome22
4 Axenfeld Anomaly22

Anatomical Context for Axenfeld-Rieger Syndrome

Sources:
33MalaCards
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MalaCards organs/tissues related to Axenfeld-Rieger Syndrome:

33
Brain, Heart, Endothelial

Animal Models for Axenfeld-Rieger Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Axenfeld-Rieger Syndrome

Sources:
51PubMed
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Articles related to Axenfeld-Rieger Syndrome:

(show top 50)    (show all 77)
idTitleAuthorsYear
1
Identification of a novel frameshift mutation in PITX2 gene in a Chinese family with Axenfeld-Rieger syndrome. (24390743)
2014
2
Magnetic resonance imaging findings in Axenfeld-Rieger syndrome. (23723681)
2013
3
Novel c.300_301delinsT mutation in PITX2 in a Korean family with Axenfeld-Rieger syndrome. (24003428)
2013
4
Two Cases of Axenfeld-Rieger Syndrome, Report of the Complex Pathology and Treatment. (23886080)
2013
5
Cardiac anomalies in Axenfeld-Rieger syndrome due to a novel FOXC1 mutation. (23239455)
2013
6
Unilateral inferior rectus hypoplasia in a child with Axenfeld-Rieger syndrome. (22681952)
2012
7
Studies on Axenfeld-Rieger syndrome patients and mice reveal Foxc1's role in corneal neovascularization. (22308435)
2012
8
Axenfeld-Rieger syndrome: new perspectives. (22199394)
2012
9
Axenfeld-Rieger spectrum in a patient with 45,X Turner syndrome. (22229795)
2012
10
Unusual presentation in Axenfeld-Rieger syndrome. (21666320)
2011
11
Axenfeld-Rieger syndrome in monozygotic twins. (21278591)
2011
12
Clinical utility gene card for: Axenfeld-Rieger syndrome. (20940740)
2011
13
Axenfeld-Rieger syndrome: dentofacial manifestation and oral rehabilitation considerations. (22104715)
2011
14
Microspherophakia associated with Axenfeld-Rieger syndrome. (20598926)
2010
15
Clinical course during 40-year follow-up of Axenfeld-Rieger syndrome in a Japanese family. (20606873)
2010
16
Dental and Craniofacial Anomalies Associated with Axenfeld-Rieger Syndrome with PITX2 Mutation. (20339518)
2010
17
Congenital heart defects in two siblings in an Axenfeld-Rieger syndrome family. (20179581)
2010
18
Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations. (19513095)
2009
19
Idiopathic mitral valve disease in a patient presenting with Axenfeld-Rieger syndrome. (19557997)
2009
20
Anomalous scleral insertion of superior oblique in Axenfeld-Rieger syndrome. (19337485)
2009
21
A novel mutation in the FOXC1 gene in a family with Axenfeld-Rieger syndrome and Peters' anomaly. (18498376)
2008
22
Morphology of the sella turcica in Axenfeld-Rieger syndrome with PITX2 mutation. (18331556)
2008
23
A novel PITX2 mutation in a Chinese family with Axenfeld-Rieger syndrome. (19052653)
2008
24
Axenfeld-Rieger syndrome associated with truncus arteriosus: a case report. (18246752)
2007
25
Novel mutations in the FOXC1 gene in Japanese patients with Axenfeld-Rieger syndrome. (17653043)
2007
26
Absence of PITX2, BARX1, and FOXC1 mutations in De Hauwere syndrome (Axenfeld-Rieger anomaly, hydrocephaly, hearing loss): a 25-year follow up. (17486624)
2007
27
Reduced human and murine corneal thickness in an Axenfeld-Rieger syndrome subtype. (17065505)
2006
28
Identification of the first intragenic deletion of the PITX2 gene causing an Axenfeld-Rieger Syndrome: case report. (17134502)
2006
29
Identification of four new PITX2 gene mutations in patients with Axenfeld-Rieger syndrome. (17167399)
2006
30
Analysis of RNA splicing defects in PITX2 mutants supports a gene dosage model of Axenfeld-Rieger syndrome. (16834779)
2006
31
A novel homeobox mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome associated with brain, ocular, and dental phenotypes. (16389592)
2006
32
Progressive iris changes in a case of Axenfeld-Rieger syndrome. (17159049)
2006
33
Current molecular understanding of Axenfeld-Rieger syndrome. (16274491)
2005
34
Intravenous patient-controlled analgesia using remifentanil in a child with Axenfeld-Rieger syndrome. (15675936)
2005
35
Dental anomalies in Axenfeld-Rieger syndrome. (16238657)
2005
36
Axenfeld-Rieger syndrome: report on dental and craniofacial findings. (16302606)
2005
37
A novel mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome. (15255117)
2004
38
Chromosomal anomalies on 6p25 in iris hypoplasia and Axenfeld-Rieger syndrome patients defined on a purpose-built genomic microarray. (15221791)
2004
39
A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene. (12614756)
2003
40
Dominant negative dimerization of a mutant homeodomain protein in Axenfeld-Rieger syndrome. (12612071)
2003
41
Four novel mutations in the PITX2 gene in patients with Axenfeld- Rieger syndrome. (12381896)
2002
42
Screening for mutations of Axenfeld-Rieger syndrome caused by FOXC1 gene in Japanese patients. (11740218)
2001
43
Functional analyses of two newly identified PITX2 mutants reveal a novel molecular mechanism for Axenfeld-Rieger syndrome. (11487566)
2001
44
Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25. (10713890)
2000
45
Axenfeld-Rieger syndrome in the age of molecular genetics. (11004268)
2000
46
Anomalies associated with Axenfeld-Rieger syndrome. (10447647)
1999
47
Autosomal-dominant iridogoniodysgenesis and Axenfeld-Rieger syndrome are genetically distinct. (8942889)
1996
48
Cardiac valvular disease and Axenfeld-Rieger syndrome. (8053476)
1994
49
Dental and craniofacial anomalies of Axenfeld-Rieger syndrome. (3104560)
1986
50
Axenfeld-Rieger syndrome: a theory of mechanism and distinctions from the iridocorneal endothelial syndrome. (6676983)
1983

Genetic Variations for Axenfeld-Rieger Syndrome

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Axenfeld-Rieger Syndrome:

63
id Symbol AA change Variation SNP ID
1FOXC1p.Leu130PheVAR_058730

Expression for genes affiliated with Axenfeld-Rieger Syndrome

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

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

Pathways for genes affiliated with Axenfeld-Rieger Syndrome

Sources:
38NCBI BioSystems Database
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Pathways related to Axenfeld-Rieger Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1SMYD1, PITX2, FOXC1

Compounds for genes affiliated with Axenfeld-Rieger Syndrome

Sources:
45Novoseek
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Compounds related to Axenfeld-Rieger Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1ptx1459.8POU1F1, PITX2
212-o-tetradecanoylphorbol 13-acetate459.6GJA1, CYP1B1, POU1F1
3oligonucleotide459.0PAWR, CYP1B1, POU1F1, PITX2

GO Terms for genes affiliated with Axenfeld-Rieger Syndrome

Sources:
16Gene Ontology
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Biological processes related to Axenfeld-Rieger Syndrome according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1eye developmentGO:0016549.7SH3PXD2B, FOXC1
2camera-type eye developmentGO:0430109.6FOXC1, FOXP2, PITX2
3odontogenesis of dentin-containing toothGO:0424759.4DLX2, PITX2, FOXC1
4in utero embryonic developmentGO:0017019.3FOXC1, PITX2, GJA1
5positive regulation of transcription from RNA polymerase II promoterGO:0459449.2DLX2, POU1F1, PITX2, FOXC1
6heart developmentGO:0075078.8SMYD1, GJA1, SH3PXD2B, FOXC1
7negative regulation of transcription from RNA polymerase II promoterGO:0001228.5PAWR, FOXC1, FOXP2, PITX2, POU1F1, DLX2

Molecular functions related to Axenfeld-Rieger Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II transcription coactivator activityGO:0011059.9POU1F1, PITX2
2RNA polymerase II activating transcription factor bindingGO:0011029.9POU1F1, PITX2
3chromatin DNA bindingGO:0314909.9FOXC1, PITX2
4sequence-specific DNA binding transcription factor activityGO:0037008.8DLX2, POU1F1, PITX2, FOXP2, FOXC1
5transcription corepressor activityGO:0037148.7SMYD1, PAWR, POU1F1

Products for genes affiliated with Axenfeld-Rieger Syndrome

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Sources for Axenfeld-Rieger Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet