ARS
MCID: AXN002
MIFTS: 60

Axenfeld-Rieger Syndrome (ARS) malady

Summaries for Axenfeld-Rieger Syndrome

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 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, also known as rieger syndrome, is related to breast cancer and glaucoma. 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 eye, bone and brain, 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:63 Axenfeld syndrome (also known as Axenfeld-Rieger syndrome or Hagedoom syndrome) is a rare autosomal... more...

Description from OMIM:46 180500,602482

Aliases & Classifications for Axenfeld-Rieger Syndrome

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8Disease Ontology, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 60UMLS, 44Novoseek, 46OMIM, 34MeSH, 39NCIt, 56SNOMED-CT
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Aliases & Descriptions:

axenfeld-rieger syndrome 8 42 20 22 21 10
rieger syndrome 42 22 21 44 60
axenfeld syndrome 8 22 21 60
iridogoniodysgenesis with somatic anomalies 42
rieger or axenfeld anomalies 46
axenfeld and rieger anomaly 21
goniodysgenesis hypodontia 42
rgs - rieger syndrome 8
anomaly, rieger's 8
rieger's anomaly 8
axenfeld anomaly 21
rieger anomaly 21
axrs 21
axra 21
ars 21


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Disease Ontology8 DOID:14686
MeSH34 C535679
NCIt39 C75015

Related Diseases for Axenfeld-Rieger Syndrome

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

(show top 50)    (show all 4086)
idRelated DiseaseScoreTop Affiliating Genes
1breast cancer31.1FOXC1, FOXP2, PITX2, POU1F1, CYP1B1, GJA1
2glaucoma30.6FOXC1, FOXP2, PITX2, CYP1B1, GJA1
3aniridia30.4FOXC1, PITX2
4congenital heart defect30.4GJA1, PITX2, FOXC1
5eye disease30.1FOXC1, PITX2
6developmental disabilities30.0FOXC1, FOXP2, PITX2, GJA1
7primary congenital glaucoma29.5CYP1B1
8hypoplastic left heart syndrome29.5SMYD1, GJA1
9peters plus syndrome29.4FOXC1, PITX2, CYP1B1
10axenfeld-rieger syndrome type 110.9
11axenfeld-rieger syndrome type 310.8
12axenfeld-rieger syndrome type 210.8
13leukemia10.8
14prostatitis10.7
15neuronitis10.7
16hepatitis10.7
17obesity10.7
18prostate cancer10.7
19arthritis10.7
20pancreatitis10.6
21hypertension10.6
22thyroiditis10.6
23alzheimer's disease10.6
24rheumatoid arthritis10.6
25acute leukemia10.6
26lung cancer10.6
27melanoma10.6
28colorectal cancer10.6
29diabetes mellitus10.6
30squamous cell carcinoma10.6
31cerebritis10.5
32adenocarcinoma10.5
33asthma10.5
34myeloid leukemia10.5
35multiple sclerosis10.5
36atherosclerosis10.5
37lupus erythematosus10.5
38schizophrenia10.5
39hepatitis c10.5
40systemic lupus erythematosus10.5
41coronary artery disease10.5
42cervicitis10.5
43ovarian cancer10.5
44dermatitis10.5
45esophagitis10.5
46myocardial infarction10.4
47hepatocellular carcinoma10.4
48acute myeloid leukemia10.4
49myeloma10.4
50polycystic ovary syndrome10.4

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



Diseases related to axenfeld-rieger syndrome

Clinical Features for Axenfeld-Rieger Syndrome

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46OMIM
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Clinical features from OMIM:

180500,602482

Clinical synopsis from OMIM:

602482

Drugs & Therapeutics for Axenfeld-Rieger Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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

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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

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

32
Eye, Bone, Brain, Heart, Endothelial

Animal Models for Axenfeld-Rieger Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Axenfeld-Rieger Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.7FOXC1, FOXP2, PITX2, SH3PXD2B, CYP1B1, GJA1
2MP:00053888.6FOXC1, FOXP2, PITX2, DLX2, GJA1
3MP:00053778.6GJA1, DLX2, SH3PXD2B, FOXP2
4MP:00053828.2GJA1, FOXC1, FOXP2, PITX2, SH3PXD2B, POU1F1
5MP:00053697.7FOXC1, FOXP2, PITX2, SH3PXD2B, DLX2, GJA1
6MP:00053857.6FOXC1, FOXP2, PITX2, SH3PXD2B, DLX2, GJA1
7MP:00053847.5FOXP2, PITX2, DLX2, GJA1, PAWR, SMYD1
8MP:00053787.3FOXC1, FOXP2, PITX2, SH3PXD2B, POU1F1, DLX2
9MP:00107687.2FOXC1, FOXP2, PITX2, SH3PXD2B, POU1F1, DLX2

Publications for Axenfeld-Rieger Syndrome

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50PubMed
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Articles related to Axenfeld-Rieger Syndrome:

(show top 50)    (show all 77)
idTitleAuthorsYear
1
A model for the molecular underpinnings of tooth defects in Axenfeld-Rieger syndrome. (23975681)
2014
2
Novel occurrence of axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome. (24212221)
2013
3
A novel forkhead box C1 gene mutation in a Korean family with Axenfeld-Rieger syndrome. (23687430)
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
Axenfeld-Rieger syndrome: new perspectives. (22199394)
2012
7
A zebrafish model of axenfeld-rieger syndrome reveals that pitx2 regulation by retinoic acid is essential for ocular and craniofacial development. (22125274)
2012
8
Unusual presentation in Axenfeld-Rieger syndrome. (21666320)
2011
9
Potential novel mechanism for Axenfeld-Rieger syndrome: deletion of a distant region containing regulatory elements of PITX2. (20881290)
2011
10
Combined aniridia ring implantation and cataract surgery in an Axenfeld-Rieger syndrome: a UBM report. (21139500)
2011
11
Humphrey visual fields and optical coherence tomography findings in patients with the Axenfeld-Rieger syndrome: a case series. (21766542)
2010
12
Microspherophakia associated with Axenfeld-Rieger syndrome. (20598926)
2010
13
Axenfeld-Rieger syndrome (ARS): A review and case report. (20831741)
2010
14
Axenfeld-Rieger Syndrome Associated with Congenital Glaucoma and Cytochrome P4501B1 Gene Mutations. (20827438)
2010
15
Clinical course during 40-year follow-up of Axenfeld-Rieger syndrome in a Japanese family. (20606873)
2010
16
Congenital heart defects in two siblings in an Axenfeld-Rieger syndrome family. (20179581)
2010
17
Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations. (19513095)
2009
18
Idiopathic mitral valve disease in a patient presenting with Axenfeld-Rieger syndrome. (19557997)
2009
19
Distinctive findings in a patient with Axenfeld-Rieger syndrome using high-resolution AS-OCT. (19928726)
2009
20
Analysis of mutations of the PITX2 transcription factor found in patients with Axenfeld-Rieger syndrome. (19218601)
2009
21
Axenfeld-Rieger syndrome and pseudotruncus arteriosus. (17434214)
2008
22
Missed case of Axenfeld-Rieger syndrome: a case report. (18990239)
2008
23
Morphology of the sella turcica in Axenfeld-Rieger syndrome with PITX2 mutation. (18331556)
2008
24
A novel PITX2 mutation in a Chinese family with Axenfeld-Rieger syndrome. (19052653)
2008
25
Axenfeld-Rieger syndrome associated with truncus arteriosus: a case report. (18246752)
2007
26
Bilateral prominent schwalbe ring in the anterior chamber in a patient with axenfeld-rieger syndrome and megalocornea. (17413972)
2007
27
Clinical presentation of a variant of Axenfeld-Rieger syndrome associated with subtelomeric 6p deletion. (17157569)
2007
28
Reduced human and murine corneal thickness in an Axenfeld-Rieger syndrome subtype. (17065505)
2006
29
Functional interactions between FOXC1 and PITX2 underlie the sensitivity to FOXC1 gene dose in Axenfeld-Rieger syndrome and anterior segment dysgenesis. (16449236)
2006
30
Identification of the first intragenic deletion of the PITX2 gene causing an Axenfeld-Rieger Syndrome: case report. (17134502)
2006
31
Identification of four new PITX2 gene mutations in patients with Axenfeld-Rieger syndrome. (17167399)
2006
32
Analysis of RNA splicing defects in PITX2 mutants supports a gene dosage model of Axenfeld-Rieger syndrome. (16834779)
2006
33
An unusual class of PITX2 mutations in Axenfeld-Rieger syndrome. (16498627)
2006
34
Progressive iris changes in a case of Axenfeld-Rieger syndrome. (17159049)
2006
35
Current molecular understanding of Axenfeld-Rieger syndrome. (16274491)
2005
36
Intravenous patient-controlled analgesia using remifentanil in a child with Axenfeld-Rieger syndrome. (15675936)
2005
37
Axenfeld-Rieger syndrome: report on dental and craniofacial findings. (16302606)
2005
38
A novel mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome. (15255117)
2004
39
Eight-year follow-up of Axenfeld-Rieger syndrome with Turner syndrome. (12948319)
2003
40
A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene. (12614756)
2003
41
Dominant negative dimerization of a mutant homeodomain protein in Axenfeld-Rieger syndrome. (12612071)
2003
42
Four novel mutations in the PITX2 gene in patients with Axenfeld- Rieger syndrome. (12381896)
2002
43
Screening for mutations of Axenfeld-Rieger syndrome caused by FOXC1 gene in Japanese patients. (11740218)
2001
44
Atrial septal defect with interatrial aneurysm and Axenfeld-Rieger syndrome. (10726801)
2000
45
Anomalies associated with Axenfeld-Rieger syndrome. (10447647)
1999
46
Difficult airway management in a baby with Axenfeld-Rieger syndrome. (9742547)
1998
47
Cardiac valvular disease and Axenfeld-Rieger syndrome. (8053476)
1994
48
Retinal detachment in Axenfeld-Rieger syndrome. (2757996)
1989
49
Dental and craniofacial anomalies of Axenfeld-Rieger syndrome. (3104560)
1986
50
Axenfeld-Rieger syndrome. A spectrum of developmental disorders. (3892740)
1985

Genetic Variations for Axenfeld-Rieger Syndrome

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

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

Expression for genes affiliated with Axenfeld-Rieger Syndrome

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

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Pathways for genes affiliated with Axenfeld-Rieger Syndrome

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37NCBI 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

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44Novoseek
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Compounds related to Axenfeld-Rieger Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1ptx1449.8POU1F1, PITX2
212-o-tetradecanoylphorbol 13-acetate449.6GJA1, CYP1B1, POU1F1
3oligonucleotide449.0PAWR, CYP1B1, POU1F1, PITX2

GO Terms for genes affiliated with Axenfeld-Rieger Syndrome

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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

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3CDC
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25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
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