ARS
MCID: AXN002
MIFTS: 62

Axenfeld-Rieger Syndrome (ARS)

Categories: Ear diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Oral diseases, Rare diseases, Skin diseases

Aliases & Classifications for Axenfeld-Rieger Syndrome

MalaCards integrated aliases for Axenfeld-Rieger Syndrome:

Name: Axenfeld-Rieger Syndrome 12 20 43 58 36 6 15 39 70
Rieger Syndrome 20 43 58 29 54 6 70
Axenfeld Syndrome 12 73 43 58 70
Axenfeld Anomaly 43 58 29
Rieger Anomaly 43 58
Iridogoniodysgenesis with Somatic Anomalies 20
Rieger Eye Malformation Sequence 70
Axenfeld and Rieger Anomaly 43
Goniodysgenesis Hypodontia 20
Rgs - Rieger Syndrome 12
Anomaly, Rieger's 12
Hagedoom Syndrome 12
Rieger's Anomaly 12
Axra 43
Axrs 43
Ars 43

Characteristics:

Orphanet epidemiological data:

58
axenfeld-rieger syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal;
rieger anomaly
Inheritance: Autosomal dominant; Age of onset: Neonatal; Age of death: normal life expectancy;
axenfeld anomaly
Inheritance: Autosomal dominant;

Classifications:

Orphanet: 58  
Rare eye diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:14686
KEGG 36 H00620
NCIt 50 C131001
SNOMED-CT 67 47507006
ICD10 32 Q13.81
MESH via Orphanet 45 C535679
ICD10 via Orphanet 33 Q13.8 Q15.0
UMLS via Orphanet 71 C0265341 C0266548 C3495488
UMLS 70 C0265341 C1280768 C3495488 more

Summaries for Axenfeld-Rieger Syndrome

MedlinePlus Genetics : 43 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.About half of affected individuals develop glaucoma, a serious condition that increases pressure inside the eye. When glaucoma occurs with Axenfeld-Rieger syndrome, it most often develops in late childhood or adolescence, although it can occur as early as infancy. Glaucoma can cause vision loss or blindness.The signs and symptoms of Axenfeld-Rieger syndrome can also affect other parts of the body. Many affected individuals have distinctive facial features such as widely spaced eyes (hypertelorism); a flattened mid-face with a broad, flat nasal bridge; and a prominent forehead. The condition is also associated with dental abnormalities including unusually small teeth (microdontia) or fewer than normal teeth (oligodontia). Some people with Axenfeld-Rieger syndrome have extra folds of skin around their belly button (redundant periumbilical skin). Other, less common features can include heart defects, the opening of the urethra on the underside of the penis (hypospadias), narrowing of the anus (anal stenosis), and abnormalities of the pituitary gland that can result in slow growth.Researchers have described at least three types of Axenfeld-Rieger syndrome. The types, which are numbered 1 through 3, are distinguished by their genetic cause.

MalaCards based summary : Axenfeld-Rieger Syndrome, also known as rieger syndrome, is related to axenfeld-rieger syndrome, type 2 and axenfeld-rieger syndrome, type 1. An important gene associated with Axenfeld-Rieger Syndrome is PITX2 (Paired Like Homeodomain 2), and among its related pathways/superpathways are TGF-beta signaling pathway and Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers. The drugs Pharmaceutical Solutions and Ophthalmic Solutions have been mentioned in the context of this disorder. Affiliated tissues include eye, pituitary and endothelial, and related phenotypes are posterior embryotoxon and aplasia/hypoplasia of the iris

Disease Ontology : 12 An eye disease characterized by abnormalities of the front part of the eye, the anterior segment.

GARD : 20 Axenfeld-Rieger syndrome is a group of disorders that mainly affects the development of the eye. Common eye symptoms include cornea defects and iris defects. People with this syndrome may have an off-center pupil (corectopia) or extra holes in the eyes that can look like multiple pupils (polycoria). About 50% of people with this syndrome develop glaucoma, a condition that increases pressure inside of the eye, and may cause vision loss or blindness. Click here to view a diagram of the eye. Even though Axenfeld-Rieger syndrome is primarily an eye disorder, this syndrome can affect other parts of the body. Most people with this syndrome have distinctive facial features and many have issues with their teeth, including unusually small teeth (microdontia) or fewer than normal teeth (oligodontia). Some people have extra folds of skin around their belly button, heart defects, or other more rare birth defects. There are three types of Axenfeld-Rieger syndrome and each has a different genetic cause. Axenfeld-Rieger syndrome type 1 is caused by mutations in the PITX2 gene. Axenfeld-Rieger syndrome type 3 is caused by mutations in the FOXC1 gene. The gene that causes Axenfeld-Rieger syndrome type 2 is not known, but it is located on chromosome 13. Axenfeld-Rieger syndrome has an autosomal dominant pattern of inheritance. Treatment depend on the symptoms.

KEGG : 36 Axenfeld-Rieger syndrome (RIEG) is a rare autosomal dominant disorder mainly affecting the anterior segment of the eyes congenitally. The ocular features include malformations of aniridia, coloboma of the iris, and ectopic pupils. Open-angle glaucoma can lead to blindness and is the main target of treatment in RIEG. Defects in other organ systems, typically the craniofacial, dental, and umbilical abnormalities, are also part of the disorder.

Wikipedia : 73 Axenfeld-Rieger syndrome is a rare autosomal dominant disorder, which affects the development of the... more...

Related Diseases for Axenfeld-Rieger Syndrome

Diseases in the Axenfeld-Rieger Syndrome family:

Axenfeld-Rieger Syndrome, Type 1 Axenfeld-Rieger Syndrome, Type 2
Axenfeld-Rieger Syndrome, Type 3

Diseases related to Axenfeld-Rieger Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 249)
# Related Disease Score Top Affiliating Genes
1 axenfeld-rieger syndrome, type 2 33.4 RIEG2 PITX2 FOXC1
2 axenfeld-rieger syndrome, type 1 33.1 PRDM5 PITX3 PITX2 PAX6 FOXE3 FOXC1
3 axenfeld-rieger syndrome, type 3 33.0 PITX3 PITX2 PAX6 MIR204 FOXE3 FOXC1
4 anterior segment dysgenesis 32.5 PITX3 PITX2 PAX6 MYOC FOXE3 FOXC1
5 anterior segment dysgenesis 1 32.2 PITX3 PITX2 PAX6 FOXE3 FOXC1 CYP1B1
6 anterior segment dysgenesis 2 32.1 PITX3 FOXE3
7 heart septal defect 31.3 PITX2 NKX2-5 GJA1
8 early-onset glaucoma 31.3 PITX2 MYOC CYP1B1
9 atrial heart septal defect 31.2 PITX2 NKX2-5 GJA1 FOXC1
10 anterior segment dysgenesis 4 31.2 PITX2 FOXC1 CRYAA
11 intraocular pressure quantitative trait locus 31.1 PITX2 PAX6 MYOC MIR204 GJA1 FOXC1
12 hypertelorism 31.1 PAX6 GJA1 FOXC1 COL1A1
13 sclerocornea 30.9 PITX2 PAX6 FOXE3 CRYAA
14 amblyopia 30.8 PITX3 PAX6 FOXE3 CRYAA
15 aniridia 1 30.8 PITX3 PITX2 PAX6 MYOC FOXE3 FOXC1
16 megalocornea 30.8 PITX2 MYOC MIR204 FOXC1 CYP1B1
17 peters-plus syndrome 30.7 PTCH1 PITX3 PITX2 PAX6 MYOC FOXE3
18 anterior segment dysgenesis 5 30.6 PTCH1 PAX6 MIR204 CYP1B1
19 isolated aniridia 30.6 PAX6 FOXC1
20 persistent hyperplastic primary vitreous 30.6 PRDM5 PITX2 PAX6 FOXE3 FOXC1
21 juvenile glaucoma 30.6 PITX3 PITX2 PAX6 MYOC FOXE3 FOXC1
22 primary congenital glaucoma 30.6 PITX2 PAX6 MYOC FOXE3 FOXC1 CYP1B1
23 open-angle glaucoma 30.6 MYOC FOXC1 CYP1B1 CRYAA
24 microphthalmia 30.5 PTCH1 PITX3 PITX2 PAX6 MIR204 GJA1
25 cornea plana 30.4 TTF2 PITX2 FOXC1 CRYAA
26 coloboma of macula 30.4 PTCH1 PITX3 PITX2 PAX6 MIR204 FOXE3
27 keratitis, hereditary 30.3 PITX2 PAX6 MYOC FOXE3 FOXC1 CYP1B1
28 glaucoma 3, primary congenital, a 30.3 PITX2 PAX6 MYOC FOXE3 FOXC1 CYP1B1
29 cataract 30.3 PITX3 PITX2 PAX6 MIR204 GJA1 FOXE3
30 eye disease 30.2 PITX2 PAX6 MYOC MIR204 FOXC1 EGF
31 congenital hypothyroidism 30.2 TTF2 POU1F1 NKX2-5 COL1A1
32 ring chromosome 30.2 FOXC1 COL1A1
33 short syndrome 11.9
34 al-raqad syndrome 11.4
35 brain small vessel disease 1 with or without ocular anomalies 11.4
36 col4a1-related brain small-vessel disease 11.3
37 angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 11.2
38 acute radiation syndrome 11.2
39 ramon syndrome 11.1
40 anterior segment dysgenesis 7 11.1
41 anterior segment dysgenesis 6 11.1
42 anterior segment dysgenesis 8 11.1
43 distichiasis 10.5 FOXP2 FOXC1
44 acquired color blindness 10.4 PITX2 PAX6 FOXC1
45 intestinal atresia 10.4 PITX2 PAX6 FOXC1
46 gillespie syndrome 10.4 PITX2 PAX6 FOXC1
47 traumatic glaucoma 10.4 MYOC CYP1B1
48 syngnathia 10.4 FOXC1 DLX2
49 excessive tearing 10.4 MYOC FOXC1 CYP1B1
50 hallermann-streiff syndrome 10.4 GJA1 CRYAA

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



Diseases related to Axenfeld-Rieger Syndrome

Symptoms & Phenotypes for Axenfeld-Rieger Syndrome

Human phenotypes related to Axenfeld-Rieger Syndrome:

58 31 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 posterior embryotoxon 58 31 hallmark (90%) Very frequent (99-80%) HP:0000627
2 aplasia/hypoplasia of the iris 58 31 hallmark (90%) Very frequent (99-80%) HP:0008053
3 abnormal anterior chamber morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0000593
4 hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000365
5 everted lower lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0000232
6 glaucoma 58 31 frequent (33%) Frequent (79-30%) HP:0000501
7 midface retrusion 58 31 frequent (33%) Frequent (79-30%) HP:0011800
8 abnormality of cardiovascular system morphology 31 frequent (33%) HP:0030680
9 depressed nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0005280
10 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
11 wide nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000431
12 prominent forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0011220
13 microdontia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000691
14 growth delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001510
15 hypoplasia of the maxilla 58 31 occasional (7.5%) Occasional (29-5%) HP:0000327
16 hypospadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0000047
17 telecanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000506
18 hypodontia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000668
19 redundant skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0001582
20 anal stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002025
21 abnormality of the hypothalamus-pituitary axis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000864
22 malformation of the heart and great vessels 58 Frequent (79-30%)

GenomeRNAi Phenotypes related to Axenfeld-Rieger Syndrome according to GeneCards Suite gene sharing:

26 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-109 9.53 GJA1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-137 9.53 POU1F1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-164 9.53 PRDM5
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-187 9.53 FOXP2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-191 9.53 POU1F1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 9.53 GJA1 POU1F1 PRDM5
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-215 9.53 PRDM5
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-22 9.53 PRDM5
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.53 GJA1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-50 9.53 FOXP2
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 9.53 GJA1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-75 9.53 FOXP2
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 9.53 FOXP2
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-97 9.53 PRDM5

MGI Mouse Phenotypes related to Axenfeld-Rieger Syndrome:

46 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.25 COL1A1 DLX2 FOXC1 GJA1 NKX2-5 PAX6
2 endocrine/exocrine gland MP:0005379 10.25 COL1A1 EGF FOXC1 GJA1 NKX2-5 PAX6
3 craniofacial MP:0005382 10.19 COL1A1 DLX2 FOXC1 GJA1 NKX2-5 PAX6
4 nervous system MP:0003631 10.17 COL1A1 DLX2 FOXC1 GJA1 NKX2-5 PAX6
5 digestive/alimentary MP:0005381 10.13 COL1A1 DLX2 EGF FOXC1 NKX2-5 PAX6
6 integument MP:0010771 10.13 COL1A1 EGF FOXC1 GJA1 NKX2-5 PAX6
7 muscle MP:0005369 10.06 COL1A1 DLX2 FOXC1 GJA1 NKX2-5 PAX6
8 hearing/vestibular/ear MP:0005377 10.04 COL1A1 DLX2 GJA1 PAX6 POU1F1 PRDM5
9 normal MP:0002873 10.02 COL1A1 EGF FOXC1 GJA1 MYOC NKX2-5
10 reproductive system MP:0005389 9.96 COL1A1 EGF FOXC1 GJA1 PAX6 PITX2
11 no phenotypic analysis MP:0003012 9.95 COL1A1 GJA1 MYOC NKX2-5 PITX2 PITX3
12 pigmentation MP:0001186 9.87 COL1A1 FOXC1 PAX6 PITX2 PITX3 POU1F1
13 respiratory system MP:0005388 9.81 COL1A1 DLX2 FOXC1 GJA1 NKX2-5 PAX6
14 skeleton MP:0005390 9.65 COL1A1 DLX2 FOXC1 GJA1 PAX6 PITX2
15 vision/eye MP:0005391 9.36 COL1A1 CYP1B1 EGF FOXC1 GJA1 MYOC

Drugs & Therapeutics for Axenfeld-Rieger Syndrome

Drugs for Axenfeld-Rieger Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 2
2 Ophthalmic Solutions Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase I/II, Randomized, Double-Masked, Vehicle-Controlled Study of the Safety, Tolerability, and Efficacy of AXR-270 Topical Eyelid Cream in Treating Posterior Blepharitis Associated With Meibomian Gland Dysfunction Completed NCT04469998 Phase 2 AXR-270 Low Dose;AXR-270 High Dose;AXR-270 Vehicle
2 A Multicenter, Vehicle-controlled, Randomized Study to Evaluate the Safety, Tolerability, Systemic Pharmacokinetics, and Pharmacodynamics of AXR-159 Ophthalmic Solution 3 mg/mL, 30 mg/mL, and 50 mg/mL in Patients With Dry Eye Disease (DED) Completed NCT03598699 Phase 2 AXR-159
3 Genetic Findings in a Chinese Family With Axenfeld-Rieger Syndrom Completed NCT03009188
4 Caregiver Burden Within the Ambulatory Extended Recovery (AXR) Patient Population Completed NCT02501785
5 Electronic Patient-Reported Outcomes in Patients Recovering From Ambulatory Cancer Surgery: Measuring Early Postoperative Symptoms Completed NCT02700256

Search NIH Clinical Center for Axenfeld-Rieger Syndrome

Genetic Tests for Axenfeld-Rieger Syndrome

Genetic tests related to Axenfeld-Rieger Syndrome:

# Genetic test Affiliating Genes
1 Rieger Syndrome 29
2 Axenfeld Anomaly 29

Anatomical Context for Axenfeld-Rieger Syndrome

MalaCards organs/tissues related to Axenfeld-Rieger Syndrome:

40
Eye, Pituitary, Endothelial, Heart, Hypothalamus, Spleen, Brain

Publications for Axenfeld-Rieger Syndrome

Articles related to Axenfeld-Rieger Syndrome:

(show top 50) (show all 352)
# Title Authors PMID Year
1
A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene. 6 54 61
12614756 2003
2
Identification of a dominant negative homeodomain mutation in Rieger syndrome. 61 54 6
11301317 2001
3
Multifunctional role of the Pitx2 homeodomain protein C-terminal tail. 61 54 6
10490637 1999
4
Exome Sequencing in a Swiss Childhood Glaucoma Cohort Reveals CYP1B1 and FOXC1 Variants as Most Frequent Causes. 6 61
32832252 2020
5
4q25 microdeletion encompassing PITX2: A patient presenting with tetralogy of Fallot and dental anomalies without ocular features. 6 61
29100920 2018
6
Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants. 6 61
28513611 2017
7
A Novel Mutation of FOXC1 (R127L) in an Axenfeld-Rieger Syndrome Family with Glaucoma and Multiple Congenital Heart Diseases. 6 61
24914578 2016
8
Cardiac anomalies in Axenfeld-Rieger syndrome due to a novel FOXC1 mutation. 6 61
23239455 2013
9
PITX2 and FOXC1 spectrum of mutations in ocular syndromes. 6 61
22569110 2012
10
FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation. 6 61
19668217 2009
11
Novel expression and transcriptional regulation of FoxJ1 during oro-facial morphogenesis. 61 6
18723525 2008
12
A novel mutation in the FOXC1 gene in a family with Axenfeld-Rieger syndrome and Peters' anomaly. 61 6
18498376 2008
13
A novel PITX2 mutation in a Chinese family with Axenfeld-Rieger syndrome. 61 6
19052653 2008
14
Analyses of a novel L130F missense mutation in FOXC1. 61 6
17210863 2007
15
Identification of four new PITX2 gene mutations in patients with Axenfeld-Rieger syndrome. 61 6
17167399 2006
16
Structural assessment of PITX2, FOXC1, CYP1B1, and GJA1 genes in patients with Axenfeld-Rieger syndrome with developmental glaucoma. 6 61
16638984 2006
17
An unusual class of PITX2 mutations in Axenfeld-Rieger syndrome. 61 6
16498627 2006
18
Dominant negative dimerization of a mutant homeodomain protein in Axenfeld-Rieger syndrome. 6 61
12612071 2003
19
Ocular developmental abnormalities and glaucoma associated with interstitial 6p25 duplications and deletions. 6 61
12036988 2002
20
Screening for mutations of Axenfeld-Rieger syndrome caused by FOXC1 gene in Japanese patients. 6 61
11740218 2001
21
Functional analyses of two newly identified PITX2 mutants reveal a novel molecular mechanism for Axenfeld-Rieger syndrome. 61 6
11487566 2001
22
Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25. 61 6
10713890 2000
23
The molecular basis of Rieger syndrome. Analysis of Pitx2 homeodomain protein activities. 6 61
9685346 1998
24
Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome. 6 61
9618168 1998
25
Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene. 6 61
9437321 1998
26
Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome. 61 6
8944018 1996
27
Autosomal-dominant iridogoniodysgenesis and Axenfeld-Rieger syndrome are genetically distinct. 61 6
8942889 1996
28
Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25). 6 61
7581385 1995
29
Molecular characterization of Axenfeld-Rieger spectrum and other anterior segment dysgeneses in a sample of Mexican patients. 6
30457409 2018
30
A Novel Mutation in FOXC1 in a Lebanese Family with Congenital Heart Disease and Anterior Segment Dysgenesis: Potential Roles for NFATC1 and DPT in the Phenotypic Variations. 6
28979898 2017
31
Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network. 6
26893459 2016
32
Hypo- and hypermorphic FOXC1 mutations in dominant glaucoma: transactivation and phenotypic variability. 6
25786029 2015
33
Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders. 6
22382802 2012
34
Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations. 6
20881294 2011
35
Characterization of a novel FOXC1 mutation, P297S, identified in two individuals with anterior segment dysgenesis. 6
19793056 2009
36
Chromatin-associated HMG-17 is a major regulator of homeodomain transcription factor activity modulated by Wnt/beta-catenin signaling. 6
18045789 2008
37
Novel mutations of FOXC1 and PITX2 in patients with Axenfeld-Rieger malformations. 6
16936096 2006
38
PITX2, beta-catenin and LEF-1 interact to synergistically regulate the LEF-1 promoter. 6
15728254 2005
39
Structural and functional analyses of disease-causing missense mutations in the forkhead domain of FOXC1. 6
14506133 2003
40
Mutation spectrum of FOXC1 and clinical genetic heterogeneity of Axenfeld-Rieger anomaly in India. 6
12592227 2003
41
FOXC1 transcriptional regulation is mediated by N- and C-terminal activation domains and contains a phosphorylated transcriptional inhibitory domain. 6
11782474 2002
42
A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye. 6
11170889 2001
43
Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma. 6
11007653 2000
44
Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly. 6
9792859 1998
45
The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25. 6
9620769 1998
46
Autosomal dominant Axenfeld-Rieger anomaly maps to 6p25. 6
9326342 1997
47
Rieger syndrome is not associated with PAX6 deletion: a correction to Acta Ophthalmol Scand 2001: 79: 201-203. 61 54
19764918 2009
48
Cytogenetically invisible microdeletions involving PITX2 in Rieger syndrome. 61 54
17850355 2007
49
Nuclear factor 1 and T-cell factor/LEF recognition elements regulate Pitx2 transcription in pituitary development. 61 54
17562863 2007
50
[Research advances in tooth agenesis]. 54 61
17304318 2007

Variations for Axenfeld-Rieger Syndrome

ClinVar genetic disease variations for Axenfeld-Rieger Syndrome:

6 (show top 50) (show all 253)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PITX2 NM_000325.6(PITX2):c.320T>A (p.Leu107Gln) SNV Pathogenic 8083 rs104893857 GRCh37: 4:111542411-111542411
GRCh38: 4:110621255-110621255
2 PITX2 NM_000325.6(PITX2):c.411+5G>C SNV Pathogenic 8084 rs1560590094 GRCh37: 4:111542315-111542315
GRCh38: 4:110621159-110621159
3 PITX2 NM_000325.6(PITX2):c.361A>C (p.Thr121Pro) SNV Pathogenic 8085 rs104893858 GRCh37: 4:111542370-111542370
GRCh38: 4:110621214-110621214
4 PITX2 NM_000325.6(PITX2):c.412-11A>G SNV Pathogenic 8086 rs1198152064 GRCh37: 4:111539855-111539855
GRCh38: 4:110618699-110618699
5 PITX2 NM_000325.6(PITX2):c.431G>C (p.Arg144Pro) SNV Pathogenic 8087 rs104893859 GRCh37: 4:111539825-111539825
GRCh38: 4:110618669-110618669
6 PITX2 NM_000325.6(PITX2):c.558G>A (p.Trp186Ter) SNV Pathogenic 8088 rs104893860 GRCh37: 4:111539698-111539698
GRCh38: 4:110618542-110618542
7 PITX2 NM_000325.6(PITX2):c.409C>T (p.Arg137Trp) SNV Pathogenic 8089 rs121909248 GRCh37: 4:111542322-111542322
GRCh38: 4:110621166-110621166
8 PITX2 NM_000325.6(PITX2):c.365G>A (p.Arg122His) SNV Pathogenic 8090 rs104893861 GRCh37: 4:111542366-111542366
GRCh38: 4:110621210-110621210
9 PITX2 NM_000325.6(PITX2):c.406G>C (p.Val136Leu) SNV Pathogenic 8092 rs121909249 GRCh37: 4:111542325-111542325
GRCh38: 4:110621169-110621169
10 PITX2 PITX2, 21-BP DUP, NT713 Duplication Pathogenic 8093 GRCh37:
GRCh38:
11 FOXC1 FOXC1, 11-BP DEL Deletion Pathogenic 8451 GRCh37:
GRCh38:
12 FOXC1 NM_001453.3(FOXC1):c.392C>T (p.Ser131Leu) SNV Pathogenic 8452 rs104893957 GRCh37: 6:1611072-1611072
GRCh38: 6:1610837-1610837
13 FOXC1 NM_001453.3(FOXC1):c.378C>G (p.Ile126Met) SNV Pathogenic 8453 rs104893958 GRCh37: 6:1611058-1611058
GRCh38: 6:1610823-1610823
14 FOXC1 NM_001453.3(FOXC1):c.335T>C (p.Phe112Ser) SNV Pathogenic 8454 rs104893951 GRCh37: 6:1611015-1611015
GRCh38: 6:1610780-1610780
15 FOXC1 NM_001453.3(FOXC1):c.67C>T (p.Gln23Ter) SNV Pathogenic 8455 rs104893952 GRCh37: 6:1610747-1610747
GRCh38: 6:1610512-1610512
16 FOXC1 FOXC1, DUP Duplication Pathogenic 8456 GRCh37:
GRCh38:
17 FOXC1 FOXC1, 22-BP INS, NT26 Insertion Pathogenic 8457 GRCh37:
GRCh38:
18 FOXC1 NM_001453.3(FOXC1):c.245G>C (p.Ser82Thr) SNV Pathogenic 8458 rs104893953 GRCh37: 6:1610925-1610925
GRCh38: 6:1610690-1610690
19 FOXC1 NM_001453.3(FOXC1):c.261C>G (p.Ile87Met) SNV Pathogenic 8459 rs104893954 GRCh37: 6:1610941-1610941
GRCh38: 6:1610706-1610706
20 FOXC1 NM_001453.3(FOXC1):c.358C>T (p.Gln120Ter) SNV Pathogenic 8461 rs121909339 GRCh37: 6:1611038-1611038
GRCh38: 6:1610803-1610803
21 PITX2 NM_000325.6(PITX2):c.421A>G (p.Lys141Glu) SNV Pathogenic 30197 rs387906810 GRCh37: 4:111539835-111539835
GRCh38: 4:110618679-110618679
22 overlap with 2 genes GRCh37/hg19 4q25(chr4:111528916-111888401)x1 copy number loss Pathogenic 375444 GRCh37: 4:111426357-111990971
GRCh38:
23 FOXC1 NM_001453.3(FOXC1):c.925_949del (p.Ser309fs) Deletion Pathogenic 375430 rs1057519481 GRCh37: 6:1611604-1611628
GRCh38: 6:1611369-1611393
24 FOXC1 NM_001453.3(FOXC1):c.599_617del (p.Gln200fs) Deletion Pathogenic 375427 rs1057519478 GRCh37: 6:1611273-1611291
GRCh38: 6:1611038-1611056
25 FOXC1 NM_001453.3(FOXC1):c.100_109del (p.Gly34fs) Deletion Pathogenic 375420 rs1057519471 GRCh37: 6:1610780-1610789
GRCh38: 6:1610545-1610554
26 PITX2 NM_000325.6(PITX2):c.343_364del (p.Arg115fs) Deletion Pathogenic 375436 rs1057519483 GRCh37: 4:111542367-111542388
GRCh38: 4:110621211-110621232
27 PITX2 NM_000325.6(PITX2):c.807T>A (p.Cys269Ter) SNV Pathogenic 375442 rs1057519489 GRCh37: 4:111539449-111539449
GRCh38: 4:110618293-110618293
28 FOXC1 NM_001453.3(FOXC1):c.666_681del (p.Ile223fs) Deletion Pathogenic 375428 rs1057519479 GRCh37: 6:1611345-1611360
GRCh38: 6:1611110-1611125
29 PITX2 NM_000325.6(PITX2):c.350C>T (p.Pro117Leu) SNV Pathogenic 375437 rs1057519484 GRCh37: 4:111542381-111542381
GRCh38: 4:110621225-110621225
30 FOXC1 NM_001453.3(FOXC1):c.1265C>A (p.Ser422Ter) SNV Pathogenic 375431 rs1057519482 GRCh37: 6:1611945-1611945
GRCh38: 6:1611710-1611710
31 overlap with 4 genes GRCh37/hg19 6p25.3(chr6:951385-1832936)x3 copy number gain Pathogenic 375434 GRCh37: 6:951385-1832936
GRCh38:
32 FOXC1 NM_001453.3(FOXC1):c.116_123del (p.Ala39fs) Deletion Pathogenic 375421 rs1057519472 GRCh37: 6:1610793-1610800
GRCh38: 6:1610558-1610565
33 PITX2 NC_000004.12:g.(?_110618049)_(110622472_?)del Deletion Pathogenic 375443 GRCh37: 4:111539205-111543628
GRCh38: 4:110618049-110622472
34 PITX2 NM_000325.6(PITX2):c.714_735del (p.Thr239fs) Deletion Pathogenic 375440 rs1057519487 GRCh37: 4:111539521-111539542
GRCh38: 4:110618365-110618386
35 FOXC1 NM_001453.3(FOXC1):c.487G>T (p.Glu163Ter) SNV Pathogenic 375426 rs1057519477 GRCh37: 6:1611167-1611167
GRCh38: 6:1610932-1610932
36 FOXC1 NM_001453.3(FOXC1):c.1491C>G (p.Tyr497Ter) SNV Pathogenic 375432 rs760676014 GRCh37: 6:1612171-1612171
GRCh38: 6:1611936-1611936
37 FOXC1 NM_001453.3(FOXC1):c.718_719del (p.Leu240fs) Deletion Pathogenic 375429 rs1057519480 GRCh37: 6:1611398-1611399
GRCh38: 6:1611163-1611164
38 FOXC1 NM_001453.3(FOXC1):c.316C>T (p.Gln106Ter) SNV Pathogenic 375424 rs1057519475 GRCh37: 6:1610996-1610996
GRCh38: 6:1610761-1610761
39 PITX2 NM_000325.6(PITX2):c.784_785del (p.Ser262fs) Deletion Pathogenic 375441 rs1057519488 GRCh37: 4:111539471-111539472
GRCh38: 4:110618315-110618316
40 FOXC1 NC_000006.12:g.(?_1610445)_(1612107_?)del Deletion Pathogenic 375435 GRCh37: 6:1610680-1612342
GRCh38: 6:1610445-1612107
41 FOXC1 NM_001453.3(FOXC1):c.192C>G (p.Tyr64Ter) SNV Pathogenic 430705 rs368260972 GRCh37: 6:1610872-1610872
GRCh38: 6:1610637-1610637
42 FOXC1 NC_000006.12:g.(?_1610426)_(1612841_?)del Deletion Pathogenic 469647 GRCh37:
GRCh38: 6:1610426-1612841
43 PITX2 NM_000325.6(PITX2):c.307C>T (p.Gln103Ter) SNV Pathogenic 492756 rs1553922901 GRCh37: 4:111542424-111542424
GRCh38: 4:110621268-110621268
44 FOXC1 NM_001453.3(FOXC1):c.349del (p.Asp117fs) Deletion Pathogenic 495293 rs1554100953 GRCh37: 6:1611027-1611027
GRCh38: 6:1610792-1610792
45 FOXC1 NM_001453.3(FOXC1):c.409_411del (p.Val137del) Deletion Pathogenic 495292 rs1554100963 GRCh37: 6:1611087-1611089
GRCh38: 6:1610852-1610854
46 FOXC1 NM_001453.3(FOXC1):c.380G>A (p.Arg127His) SNV Pathogenic 537389 rs1085307884 GRCh37: 6:1611060-1611060
GRCh38: 6:1610825-1610825
47 FOXC1 NM_001453.3(FOXC1):c.957del (p.Ser320fs) Deletion Pathogenic 537391 rs1241813534 GRCh37: 6:1611633-1611633
GRCh38: 6:1611398-1611398
48 overlap with 21 genes Deletion Pathogenic 560066 GRCh37: 21:46363553-48080926
GRCh38:
49 FOXC1 NM_001453.3(FOXC1):c.1_*1790del (p.Met1fs) Deletion Pathogenic 568112 GRCh37: 6:1610681-1614132
GRCh38: 6:1610446-1613897
50 FOXC1 NM_001453.3(FOXC1):c.141C>G (p.Tyr47Ter) SNV Pathogenic 100687 rs372857241 GRCh37: 6:1610821-1610821
GRCh38: 6:1610586-1610586

Expression for Axenfeld-Rieger Syndrome

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

Pathways for Axenfeld-Rieger Syndrome

Pathways related to Axenfeld-Rieger Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 TGF-beta signaling pathway hsa04350

Pathways related to Axenfeld-Rieger Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.31 NKX2-5 GJA1 EGF
2 11.05 PAX6 NKX2-5 GJA1 EGF
3 10.79 PITX2 NKX2-5 FOXC1

GO Terms for Axenfeld-Rieger Syndrome

Cellular components related to Axenfeld-Rieger Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 9.28 POU1F1 PITX3 PITX2 PAX6 NKX2-5 FOXP2

Biological processes related to Axenfeld-Rieger Syndrome according to GeneCards Suite gene sharing:

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.11 POU1F1 PITX3 PITX2 PAX6 NKX2-5 FOXC1
2 regulation of transcription by RNA polymerase II GO:0006357 10.09 POU1F1 PITX3 PITX2 PAX6 NKX2-5 FOXP2
3 regulation of transcription, DNA-templated GO:0006355 9.97 POU1F1 PITX3 PITX2 PAX6 NKX2-5 FOXP2
4 brain development GO:0007420 9.89 PTCH1 PAX6 FOXC1 DLX2
5 visual perception GO:0007601 9.88 PAX6 CYP1B1 CRYAA COL1A1
6 negative regulation of cell proliferation GO:0008285 9.85 PTCH1 POU1F1 PAX6 MIR204 GJA1 CYP1B1
7 response to estradiol GO:0032355 9.78 PTCH1 GJA1 COL1A1
8 anatomical structure morphogenesis GO:0009653 9.76 PITX3 PITX2 FOXE3 FOXC1
9 blood vessel development GO:0001568 9.71 PAX6 FOXC1 COL1A1
10 heart morphogenesis GO:0003007 9.7 PTCH1 NKX2-5 FOXC1
11 collagen fibril organization GO:0030199 9.69 FOXC1 CYP1B1 COL1A1
12 eye development GO:0001654 9.67 PAX6 FOXE3 FOXC1
13 lens development in camera-type eye GO:0002088 9.65 PITX3 PAX6 FOXE3
14 cell fate determination GO:0001709 9.62 PTCH1 PAX6
15 pharyngeal system development GO:0060037 9.61 PTCH1 NKX2-5
16 embryonic heart tube development GO:0035050 9.6 NKX2-5 FOXC1
17 cornea development in camera-type eye GO:0061303 9.58 PAX6 FOXE3
18 positive regulation of core promoter binding GO:1904798 9.56 PAX6 FOXC1
19 camera-type eye development GO:0043010 9.56 PITX2 PAX6 FOXE3 FOXC1
20 positive regulation of transcription, DNA-templated GO:0045893 9.56 PTCH1 POU1F1 PITX3 PAX6 NKX2-5 FOXC1
21 lacrimal gland development GO:0032808 9.55 PAX6 FOXC1
22 trabecular meshwork development GO:0002930 9.4 FOXE3 CYP1B1
23 iris morphogenesis GO:0061072 9.33 PITX2 PAX6 FOXE3
24 negative regulation of transcription by RNA polymerase II GO:0000122 9.28 PTCH1 PRDM5 POU1F1 PITX2 PAX6 NKX2-5

Molecular functions related to Axenfeld-Rieger Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10 TTF2 PRDM5 POU1F1 PITX3 PITX2 PAX6
2 sequence-specific double-stranded DNA binding GO:1990837 9.91 POU1F1 PITX3 PITX2 PAX6 NKX2-5 DLX2
3 sequence-specific DNA binding GO:0043565 9.88 PRDM5 PAX6 NKX2-5 FOXP2 FOXE3 FOXC1
4 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.81 POU1F1 PITX3 PITX2 PAX6 NKX2-5 FOXP2
5 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.8 POU1F1 PITX3 PAX6 NKX2-5 FOXC1 DLX2
6 transcription factor binding GO:0008134 9.78 PITX2 PAX6 NKX2-5 FOXC1
7 transcription regulatory region sequence-specific DNA binding GO:0000976 9.77 PRDM5 PITX2 PAX6 NKX2-5 FOXC1
8 DNA-binding transcription repressor activity, RNA polymerase II-specific GO:0001227 9.76 PRDM5 PITX2 PAX6 FOXP2
9 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.65 PRDM5 POU1F1 PITX3 PITX2 PAX6 NKX2-5
10 DNA-binding transcription factor activity GO:0003700 9.32 PRDM5 POU1F1 PITX3 PITX2 PAX6 NKX2-5

Sources for Axenfeld-Rieger Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....