ARS
MCID: AXN002
MIFTS: 66

Axenfeld-Rieger Syndrome (ARS) malady

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

Summaries for Axenfeld-Rieger Syndrome

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22Genetics Home Reference, 44NIH Rare Diseases, 66Wikipedia, 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, also known as rieger syndrome, is related to breast cancer and aniridia. 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 doxycycline have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and heart, and related mouse phenotypes are skeleton and endocrine/exocrine gland.

Genetics Home Reference:22 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:66 Axenfeld syndrome (also known as Axenfeld-Rieger syndrome or Hagedoom syndrome) is a rare autosomal... more...

Description from OMIM:48 180500,602482

Aliases & Classifications for Axenfeld-Rieger Syndrome

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9Disease Ontology, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 11DISEASES, 46Novoseek, 63UMLS, 36MeSH, 59SNOMED-CT, 41NCIt
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Classifications:



Aliases & Descriptions:

axenfeld-rieger syndrome 9 44 21 23 22 11
rieger syndrome 44 23 22 46 63
axenfeld syndrome 9 23 22 63
iridogoniodysgenesis with somatic anomalies 44
rieger or axenfeld anomalies 48
axenfeld and rieger anomaly 22
goniodysgenesis hypodontia 44
rgs - rieger syndrome 9
anomaly, rieger's 9
rieger's anomaly 9
axenfeld anomaly 22
rieger anomaly 22
axrs 22
axra 22
ars 22


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Disease Ontology9 DOID:14686
MeSH36 C535679
NCIt41 C75015

Related Diseases for Axenfeld-Rieger Syndrome

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

(show top 50)    (show all 4186)
idRelated DiseaseScoreTop Affiliating Genes
1breast cancer31.0PITX2, POU1F1, CYP1B1, FOXP2, FOXC1, GJA1
2aniridia30.5PITX2, FOXC1
3adenoma30.5PITX2, CYP1B1, POU1F1, GJA1
4glaucoma30.5FOXP2, FOXC1, CYP1B1, PITX2, GJA1
5eye disease30.3PITX2, FOXC1
6pituitary adenoma30.1PITX2, POU1F1
7developmental disabilities30.0FOXP2, GJA1, FOXC1, PITX2
8congenital heart disease29.9PITX2, GJA1, FOXC1
9malignant glioma29.9GJA1, PITX2, CYP1B1
10primary congenital glaucoma29.7CYP1B1
11hypoplastic left heart syndrome29.7SMYD1
12peters plus syndrome29.3PITX2, CYP1B1
13axenfeld-rieger syndrome type 110.9
14axenfeld-rieger syndrome type 310.8
15axenfeld-rieger syndrome type 210.8
16leukemia10.8
17prostatitis10.8
18neuronitis10.8
19hepatitis10.8
20obesity10.8
21arthritis10.7
22prostate cancer10.7
23pancreatitis10.7
24hypertension10.7
25thyroiditis10.7
26alzheimer's disease10.7
27rheumatoid arthritis10.6
28insulin resistance10.6
29lung cancer10.6
30melanoma10.6
31diabetes mellitus10.6
32colorectal cancer10.6
33cerebritis10.6
34asthma10.6
35adenocarcinoma10.6
36hiv-110.6
37multiple sclerosis10.6
38myeloid leukemia10.6
39atherosclerosis10.6
40lupus erythematosus10.5
41schizophrenia10.5
42artery disease10.5
43hepatitis c10.5
44systemic lupus erythematosus10.5
45cervicitis10.5
46coronary artery disease10.5
47dermatitis10.5
48esophagitis10.5
49ovarian cancer10.5
50myocardial infarction10.5

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



Diseases related to axenfeld-rieger syndrome

Symptoms for Axenfeld-Rieger Syndrome

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48OMIM
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Symptoms by clinical synopsis from OMIM:

602482

Clinical features from OMIM:

180500,602482

Drugs & Therapeutics for Axenfeld-Rieger Syndrome

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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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21GeneTests, 23GTR
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Genetic tests related to Axenfeld-Rieger Syndrome:

id Genetic test Affiliating Genes
1 Axenfeld-Rieger Syndrome21 PITX2
2 Axenfeld-Rieger Anomaly23
3 Rieger Syndrome23
4 Axenfeld Anomaly23

Anatomical Context for Axenfeld-Rieger Syndrome

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

34
Eye, Bone, Heart, Endothelial

Animal Models for Axenfeld-Rieger Syndrome or affiliated genes

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38MGI
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Publications for Axenfeld-Rieger Syndrome

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53PubMed
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Articles related to Axenfeld-Rieger Syndrome:

(show top 50)    (show all 73)
idTitleAuthorsYear
1
A model for the molecular underpinnings of tooth defects in Axenfeld-Rieger syndrome. (23975681)
2014
2
Identification of a novel frameshift mutation in PITX2 gene in a Chinese family with Axenfeld-Rieger syndrome. (24390743)
2014
3
Magnetic resonance imaging findings in Axenfeld-Rieger syndrome. (23723681)
2013
4
Novel c.300_301delinsT mutation in PITX2 in a Korean family with Axenfeld-Rieger syndrome. (24003428)
2013
5
A novel forkhead box C1 gene mutation in a Korean family with Axenfeld-Rieger syndrome. (23687430)
2013
6
Two Cases of Axenfeld-Rieger Syndrome, Report of the Complex Pathology and Treatment. (23886080)
2013
7
Unilateral inferior rectus hypoplasia in a child with Axenfeld-Rieger syndrome. (22681952)
2012
8
Studies on Axenfeld-Rieger syndrome patients and mice reveal Foxc1's role in corneal neovascularization. (22308435)
2012
9
Axenfeld-Rieger syndrome: new perspectives. (22199394)
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
Potential novel mechanism for Axenfeld-Rieger syndrome: deletion of a distant region containing regulatory elements of PITX2. (20881290)
2011
14
Axenfeld-Rieger syndrome: dentofacial manifestation and oral rehabilitation considerations. (22104715)
2011
15
Combined aniridia ring implantation and cataract surgery in an Axenfeld-Rieger syndrome: a UBM report. (21139500)
2011
16
Humphrey visual fields and optical coherence tomography findings in patients with the Axenfeld-Rieger syndrome: a case series. (21766542)
2010
17
Microspherophakia associated with Axenfeld-Rieger syndrome. (20598926)
2010
18
Axenfeld-Rieger syndrome (ARS): A review and case report. (20831741)
2010
19
Axenfeld-Rieger Syndrome Associated with Congenital Glaucoma and Cytochrome P4501B1 Gene Mutations. (20827438)
2010
20
Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations. (19513095)
2009
21
Idiopathic mitral valve disease in a patient presenting with Axenfeld-Rieger syndrome. (19557997)
2009
22
Distinctive findings in a patient with Axenfeld-Rieger syndrome using high-resolution AS-OCT. (19928726)
2009
23
A novel mutation in the FOXC1 gene in a family with Axenfeld-Rieger syndrome and Peters' anomaly. (18498376)
2008
24
Axenfeld-Rieger syndrome and pseudotruncus arteriosus. (17434214)
2008
25
Missed case of Axenfeld-Rieger syndrome: a case report. (18990239)
2008
26
Axenfeld-Rieger syndrome associated with truncus arteriosus: a case report. (18246752)
2007
27
Novel mutations in the FOXC1 gene in Japanese patients with Axenfeld-Rieger syndrome. (17653043)
2007
28
Bilateral prominent schwalbe ring in the anterior chamber in a patient with axenfeld-rieger syndrome and megalocornea. (17413972)
2007
29
Reduced human and murine corneal thickness in an Axenfeld-Rieger syndrome subtype. (17065505)
2006
30
Functional interactions between FOXC1 and PITX2 underlie the sensitivity to FOXC1 gene dose in Axenfeld-Rieger syndrome and anterior segment dysgenesis. (16449236)
2006
31
Structural assessment of PITX2, FOXC1, CYP1B1, and GJA1 genes in patients with Axenfeld-Rieger syndrome with developmental glaucoma. (16638984)
2006
32
Identification of the first intragenic deletion of the PITX2 gene causing an Axenfeld-Rieger Syndrome: case report. (17134502)
2006
33
Identification of four new PITX2 gene mutations in patients with Axenfeld-Rieger syndrome. (17167399)
2006
34
Analysis of RNA splicing defects in PITX2 mutants supports a gene dosage model of Axenfeld-Rieger syndrome. (16834779)
2006
35
Case of chromosome 6p25 terminal deletion associated with Axenfeld-Rieger syndrome and persistent hyperplastic primary vitreous. (16470791)
2006
36
Current molecular understanding of Axenfeld-Rieger syndrome. (16274491)
2005
37
Intravenous patient-controlled analgesia using remifentanil in a child with Axenfeld-Rieger syndrome. (15675936)
2005
38
Dental anomalies in Axenfeld-Rieger syndrome. (16238657)
2005
39
A novel mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome. (15255117)
2004
40
Eight-year follow-up of Axenfeld-Rieger syndrome with Turner syndrome. (12948319)
2003
41
A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene. (12614756)
2003
42
Dominant negative dimerization of a mutant homeodomain protein in Axenfeld-Rieger syndrome. (12612071)
2003
43
A molecular basis for differential developmental anomalies in Axenfeld-Rieger syndrome. (11929847)
2002
44
Screening for mutations of Axenfeld-Rieger syndrome caused by FOXC1 gene in Japanese patients. (11740218)
2001
45
Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25. (10713890)
2000
46
Atrial septal defect with interatrial aneurysm and Axenfeld-Rieger syndrome. (10726801)
2000
47
Difficult airway management in a baby with Axenfeld-Rieger syndrome. (9742547)
1998
48
Cardiac valvular disease and Axenfeld-Rieger syndrome. (8053476)
1994
49
Retinal detachment in Axenfeld-Rieger syndrome. (2757996)
1989
50
Dental and craniofacial anomalies of Axenfeld-Rieger syndrome. (3104560)
1986

Variations for Axenfeld-Rieger Syndrome

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

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

Clinvar genetic disease variations for Axenfeld-Rieger Syndrome:

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

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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

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Pathways for genes affiliated with Axenfeld-Rieger Syndrome

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51PathCards, 39NCBI BioSystems Database
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Pathways related to Axenfeld-Rieger Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.0FOXC1, SMYD1, PITX2

Compounds for genes affiliated with Axenfeld-Rieger Syndrome

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46Novoseek, 12DrugBank, 25HMDB, 30IUPHAR, 62Tocris Bioscience
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Compounds related to Axenfeld-Rieger Syndrome according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1ptx14610.0POU1F1, PITX2
2doxycycline46 1210.7GJA1, CYP1B1
31,25 dihydroxy vitamin d3469.6GJA1, POU1F1
412-o-tetradecanoylphorbol 13-acetate469.4GJA1, POU1F1, CYP1B1
5proline469.3GJA1, POU1F1, CYP1B1
6p003469.3GJA1, CYP1B1
7cyclic amp46 2510.3PITX2, POU1F1, GJA1
8progesterone46 30 62 25 1213.1GJA1, POU1F1, CYP1B1
9glutamate468.9CYP1B1, POU1F1, FOXP2, GJA1
10estrogen468.9CYP1B1, POU1F1, FOXP2, GJA1
11tyrosine468.6GJA1, FOXP2, POU1F1, CYP1B1, PITX2

GO Terms for genes affiliated with Axenfeld-Rieger Syndrome

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17Gene Ontology
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Cellular components related to Axenfeld-Rieger Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:0056347.5DLX2, FOXC1, FOXP2, POU1F1, SMYD1, PITX2

Biological processes related to Axenfeld-Rieger Syndrome according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1embryo developmentGO:0097909.6FOXC1, FOXP2
2camera-type eye developmentGO:0430109.4FOXC1, FOXP2, PITX2
3pattern specification processGO:0073899.3FOXC1, FOXP2
4odontogenesis of dentin-containing toothGO:0424759.3PITX2, FOXC1, DLX2
5negative regulation of transcription from RNA polymerase II promoterGO:0001228.9DLX2, FOXC1, POU1F1, PITX2
6heart developmentGO:0075078.9SMYD1, FOXC1, GJA1
7positive regulation of transcription from RNA polymerase II promoterGO:0459448.7DLX2, FOXC1, POU1F1, PITX2

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1chromatin DNA bindingGO:03149010.0FOXC1, PITX2
2RNA polymerase II transcription coactivator activityGO:0011059.9PITX2, POU1F1
3RNA polymerase II activating transcription factor bindingGO:0011029.9POU1F1, PITX2
4DNA binding, bendingGO:0083019.6FOXC1, FOXP2
5RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcriptionGO:0010779.5PITX2, POU1F1
6transcription regulatory region sequence-specific DNA bindingGO:0009769.4DLX2, PITX2
7sequence-specific DNA bindingGO:0435659.3FOXC1, FOXP2, POU1F1
8chromatin bindingGO:0036829.0POU1F1, FOXP2, DLX2
9sequence-specific DNA binding transcription factor activityGO:0037008.5DLX2, FOXC1, FOXP2, POU1F1, PITX2

Products for genes affiliated with Axenfeld-Rieger Syndrome

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Sources for Axenfeld-Rieger Syndrome

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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