ARS
MCID: AXN002
MIFTS: 56

Axenfeld-Rieger Syndrome (ARS)

Categories: Eye diseases, Fetal diseases, Genetic 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 53 25 37 6 44 15 40 73
Rieger Syndrome 53 25 29 55 6 73
Axenfeld Syndrome 12 76 25 73
Axenfeld Anomaly 25 59 29
Rieger Anomaly 25 59
Iridogoniodysgenesis with Somatic Anomalies 53
Rieger Eye Malformation Sequence 73
Axenfeld and Rieger Anomaly 25
Goniodysgenesis Hypodontia 53
Rgs - Rieger Syndrome 12
Anomaly, Rieger's 12
Hagedoom Syndrome 12
Rieger's Anomaly 12
Axra 25
Axrs 25
Ars 25

Characteristics:

Orphanet epidemiological data:

59
rieger anomaly
Inheritance: Autosomal dominant; Age of onset: Neonatal; Age of death: normal life expectancy;
axenfeld anomaly
Inheritance: Autosomal dominant;

Classifications:



Summaries for Axenfeld-Rieger Syndrome

NIH Rare Diseases : 53 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.

MalaCards based summary : Axenfeld-Rieger Syndrome, also known as rieger syndrome, is related to axenfeld-rieger syndrome, type 3 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 is TGF-beta signaling pathway. Affiliated tissues include eye, skin and heart, and related phenotypes are hypertelorism and hearing impairment

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

Genetics Home Reference : 25 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 : 76 Axenfeld syndrome (also known as Axenfeld-Rieger syndrome or Hagedoom syndrome) is a rare autosomal... 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 6747)
# Related Disease Score Top Affiliating Genes
1 axenfeld-rieger syndrome, type 3 34.3 CYP1B1 FOXC1 PAX6 PITX2
2 axenfeld-rieger syndrome, type 1 34.2 PAX6 PITX2 PRDM5 SHOX2
3 axenfeld-rieger syndrome, type 2 34.0 ASB10 FOXC1 OPTN PITX2
4 anterior segment dysgenesis 33.3 CYP1B1 FOXC1 PAX6 PITX2
5 anterior segment dysgenesis 1 32.4 PAX6 PITX2
6 distichiasis 30.9 FOXC1 FOXP2
7 glaucoma-related pigment dispersion syndrome 30.7 CYP1B1 PITX2
8 peters-plus syndrome 30.6 CYP1B1 FOXC1 PAX6 PITX2
9 persistent hyperplastic primary vitreous 30.6 FOXC1 PITX2
10 hallermann-streiff syndrome 30.6 GJA1 OPTN
11 glaucoma 3, primary congenital, a 30.5 CYP1B1 FOXC1 OPTN PAX6 PITX2
12 adamantinoma of long bones 30.5 CYP1B1 FOXC1 OPTN PAX6 PITX2
13 glaucoma 1, open angle, a 30.5 CYP1B1 OPTN
14 acrofrontofacionasal dysostosis 30.4 CYP1B1 OPTN
15 anterior segment dysgenesis 4 30.3 ASB10 FOXC1 PITX2
16 early-onset glaucoma 30.2 CYP1B1 PITX2
17 anterior segment dysgenesis 5 30.2 CYP1B1 PAX6
18 coloboma of macula 29.9 CYP1B1 OPTN PAX6
19 open-angle glaucoma 29.6 ASB10 CYP1B1 OPTN
20 glaucoma, primary open angle 29.5 ASB10 CYP1B1 OPTN
21 primary congenital glaucoma 28.9 CYP1B1 FOXC1 OPTN PITX2
22 primary angle-closure glaucoma 28.8 CYP1B1 OPTN
23 sinoatrial node disease 28.6 GJA1 SHOX2
24 aniridia 1 28.3 CYP1B1 FOXC1 OPTN PAX6 PITX2
25 axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities 12.4
26 androgen insensitivity syndrome 11.8
27 familial mediterranean fever 11.6
28 hyper-ige recurrent infection syndrome, autosomal recessive 11.6
29 renal tubular acidosis, distal, with progressive nerve deafness 11.6
30 brain small vessel disease with or without ocular anomalies 11.5
31 immunodeficiency 27a 11.5
32 polycystic kidney disease 4 with or without polycystic liver disease 11.5
33 myopathy, centronuclear, 2 11.4
34 hypophosphatemic rickets, autosomal recessive, 1 11.4
35 oculodentodigital dysplasia, autosomal recessive 11.3
36 epidermolysis bullosa, nonspecific, autosomal recessive 11.3
37 ectopia pupillae 11.3
38 epidermolysis bullosa dystrophica, autosomal recessive 11.3
39 prostate cancer 11.3
40 renal tubular acidosis, distal, with hemolytic anemia 11.1
41 alzheimer disease 11.1
42 fatty liver disease 11.0
43 lupus erythematosus 11.0
44 breast cancer 10.9
45 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative 10.9
46 epidermolysis bullosa simplex, autosomal recessive 1 10.9
47 renal tubular acidosis, proximal, with ocular abnormalities and mental retardation 10.9
48 mitochondrial dna depletion syndrome 12b , autosomal recessive 10.9
49 epidermolysis bullosa simplex, autosomal recessive 2 10.9
50 autosomal recessive non-syndromic intellectual disability 10.9

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:

32 (show all 21)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 occasional (7.5%) HP:0000316
2 hearing impairment 32 frequent (33%) HP:0000365
3 depressed nasal bridge 32 occasional (7.5%) HP:0005280
4 wide nasal bridge 32 occasional (7.5%) HP:0000431
5 prominent forehead 32 occasional (7.5%) HP:0011220
6 everted lower lip vermilion 32 frequent (33%) HP:0000232
7 microdontia 32 occasional (7.5%) HP:0000691
8 growth delay 32 occasional (7.5%) HP:0001510
9 telecanthus 32 occasional (7.5%) HP:0000506
10 hypospadias 32 occasional (7.5%) HP:0000047
11 hypoplasia of the maxilla 32 occasional (7.5%) HP:0000327
12 glaucoma 32 frequent (33%) HP:0000501
13 posterior embryotoxon 32 hallmark (90%) HP:0000627
14 hypodontia 32 occasional (7.5%) HP:0000668
15 redundant skin 32 occasional (7.5%) HP:0001582
16 aplasia/hypoplasia of the iris 32 hallmark (90%) HP:0008053
17 midface retrusion 32 frequent (33%) HP:0011800
18 abnormality of cardiovascular system morphology 32 frequent (33%) HP:0030680
19 anal stenosis 32 occasional (7.5%) HP:0002025
20 abnormality of the hypothalamus-pituitary axis 32 occasional (7.5%) HP:0000864
21 abnormal anterior chamber morphology 32 hallmark (90%) HP:0000593

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

26 (show all 21)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.85 FOXP2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-109 9.85 GJA1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 9.85 FOXC1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.85 FOXP2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-142 9.85 TTF2 PRDM5
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.85 FOXC1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-175 9.85 GJA1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-187 9.85 FOXP2
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-191 9.85 POU1F1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-203 9.85 GJA1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 9.85 FOXP2 GJA1 POU1F1 PRDM5
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.85 FOXC1
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-22 9.85 PRDM5
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.85 GJA1
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-27 9.85 TTF2
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-55 9.85 FOXC1 FOXP2 TTF2
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-58 9.85 FOXC1
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 9.85 GJA1
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-75 9.85 FOXP2
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 9.85 FOXP2
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-94 9.85 TTF2

MGI Mouse Phenotypes related to Axenfeld-Rieger Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.81 COL25A1 CYP1B1 FOXC1 GJA1 OPTN PAX6
2 craniofacial MP:0005382 9.73 FOXC1 GJA1 PAX6 PITX2 POU1F1 SHOX2
3 pigmentation MP:0001186 9.26 FOXC1 PAX6 PITX2 POU1F1
4 skeleton MP:0005390 9.17 FOXC1 GJA1 PAX6 PITX2 POU1F1 PRDM5

Drugs & Therapeutics for Axenfeld-Rieger Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Genetic Findings in a Chinese Family With Axenfeld-Rieger Syndrom Completed NCT03009188
2 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Axenfeld-Rieger Syndrome

Cochrane evidence based reviews: 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:

41
Eye, Skin, Heart, Brain, Kidney, Bone, Breast

Publications for Axenfeld-Rieger Syndrome

Articles related to Axenfeld-Rieger Syndrome:

(show top 50) (show all 139)
# Title Authors Year
1
Sterile keratitis after uneventful corneal collagen cross-linking in a patient with Axenfeld-Rieger syndrome. ( 29594793 )
2018
2
PITX2-related Axenfeld-Rieger Syndrome with a Novel Pathogenic Variant (c.475_476delCT). ( 29401568 )
2018
3
Axenfeld-Rieger syndrome. ( 29793789 )
2018
4
Mutation Survey of Candidate Genes and Genotype-Phenotype Analysis in 20 Southeastern Chinese Patients with Axenfeld-Rieger Syndrome. ( 29939776 )
2018
5
Axenfeld-Rieger syndrome as a rare cause of umbilical abnormality. ( 30255586 )
2018
6
Degenerated hair follicle cells and partial loss of sebaceous and eccrine glands in a familial case of axenfeld-rieger syndrome: An emerging role for the FOXC1/NFATC1 genetic axis. ( 30514661 )
2018
7
A novel 4q25 microdeletion encompassing PITX2 associated with Rieger syndrome. ( 29774977 )
2018
8
Axenfeld-Rieger syndrome. ( 28972279 )
2017
9
A Novel Mutation in PITX2 in a Patient with Axenfeld-Rieger Syndrome. ( 28611552 )
2017
10
A Chinese family with Axenfeld-Rieger syndrome: report of the clinical and genetic findings. ( 28730073 )
2017
11
A de novo Pericentric Inversion in Chromosome 4 Associated with Disruption of PITX2 and a Microdeletion in 4p15.2 in a Patient with Axenfeld-Rieger Syndrome and Developmental Delay. ( 28226328 )
2017
12
Axenfeld-Rieger Syndrome and Leukoencephalopathy Caused by a Mutation in FOXC1. ( 27697311 )
2017
13
Comparison of Bioinformatics Prediction, Molecular Modeling, and Functional Analyses of FOXC1 Mutations in Patients with Axenfeld-Rieger Syndrome. ( 27804176 )
2017
14
Novel de novo FOXC1 nonsense mutation in an Axenfeld-Rieger syndrome patient. ( 28432732 )
2017
15
The rare Axenfeld-Rieger syndrome with systemic anomalies: A case report and brief review of literature. ( 28816964 )
2017
16
Novel Genetic Findings in a Chinese Family with Axenfeld-Rieger Syndrome. ( 28695001 )
2017
17
Unclassified Axenfeld-Rieger Syndrome: A CASE SERIES and Review of Literature. ( 27929720 )
2016
18
A Novel Homozygous Mutation in FOXC1 Causes Axenfeld Rieger Syndrome with Congenital Glaucoma. ( 27463523 )
2016
19
Novel PITX2 gene mutations in patients with Axenfeld-Rieger syndrome. ( 27009473 )
2016
20
A Rare Recurrent 4q25 Proximal Deletion Not Involving the PITX2 Gene: A Genomic Disorder Distinct from Axenfeld-Rieger Syndrome. ( 27587989 )
2016
21
Whole exome sequencing identifies a heterozygous missense variant in the PRDM5 gene in a family with Axenfeld-Rieger syndrome. ( 26489929 )
2016
22
Heterozygous Pitx2 Null Mice Accurately Recapitulate the Ocular Features of Axenfeld-Rieger Syndrome and Congenital Glaucoma. ( 27654429 )
2016
23
Mutations in zebrafish pitx2 model congenital malformations in Axenfeld-Rieger syndrome but do not disrupt left-right placement of visceral organs. ( 27297886 )
2016
24
Congenital hypothyroidism in Rieger Syndrome. ( 24666291 )
2016
25
Whole exome sequencing reveals a novel de novo FOXC1 mutation in a patient with unrecognized Axenfeld-Rieger syndrome and glaucoma. ( 25967385 )
2015
26
PITX2 Loss-of-Function Mutation Contributes to Congenital Endocardial Cushion Defect and Axenfeld-Rieger Syndrome. ( 25893250 )
2015
27
Axenfeld-Rieger syndrome: a case report. ( 26281856 )
2015
28
A Family with Axenfeld-Rieger Syndrome: Report of the Clinical and Genetic Findings. ( 26240509 )
2015
29
Axenfeld-Rieger syndrome associated with severe maxillofacial and skeletal anomalies. ( 26097324 )
2015
30
Dysfunction of the stress-responsive FOXC1 transcription factor contributes to the earlier-onset glaucoma observed in Axenfeld-Rieger syndrome patients. ( 24556684 )
2014
31
Axenfeld-Rieger syndrome: further clinical and array delineation of four unrelated patients with a 4q25 microdeletion. ( 24715413 )
2014
32
A Novel Mutation of FOXC1 (R127L) in an Axenfeld-Rieger Syndrome Family with Glaucoma and Multiple Congenital Heart Diseases. ( 24914578 )
2014
33
A model for the molecular underpinnings of tooth defects in Axenfeld-Rieger syndrome. ( 23975681 )
2014
34
Novel occurrence of axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome. ( 24722273 )
2014
35
Identification of a novel frameshift mutation in PITX2 gene in a Chinese family with Axenfeld-Rieger syndrome. ( 24390743 )
2014
36
OLOGEN(Ar) implant in the management of glaucoma in an unusual case of Axenfeld-Rieger syndrome. ( 25136237 )
2014
37
Cardiac anomalies in Axenfeld-Rieger syndrome due to a novel FOXC1 mutation. ( 23239455 )
2013
38
Novel occurrence of axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome. ( 24212221 )
2013
39
Magnetic resonance imaging findings in Axenfeld-Rieger syndrome. ( 23723681 )
2013
40
A novel forkhead box C1 gene mutation in a Korean family with Axenfeld-Rieger syndrome. ( 23687430 )
2013
41
Two Cases of Axenfeld-Rieger Syndrome, Report of the Complex Pathology and Treatment. ( 23886080 )
2013
42
Novel c.300_301delinsT mutation in PITX2 in a Korean family with Axenfeld-Rieger syndrome. ( 24003428 )
2013
43
Unilateral inferior rectus hypoplasia in a child with Axenfeld-Rieger syndrome. ( 22681952 )
2012
44
Axenfeld-Rieger syndrome: new perspectives. ( 22199394 )
2012
45
Anaesthetic challenges in a patient with Axenfeld Rieger Syndrome. ( 25885517 )
2012
46
Studies on Axenfeld-Rieger syndrome patients and mice reveal Foxc1's role in corneal neovascularization. ( 22308435 )
2012
47
A zebrafish model of axenfeld-rieger syndrome reveals that pitx2 regulation by retinoic acid is essential for ocular and craniofacial development. ( 22125274 )
2012
48
Axenfeld-Rieger syndrome in monozygotic twins. ( 21278591 )
2011
49
Clinical utility gene card for: Axenfeld-Rieger syndrome. ( 20940740 )
2011
50
Axenfeld-Rieger anomaly and Axenfeld-Rieger syndrome: clinical, molecular-cytogenetic, and DNA array analyses of three patients with chromosomal defects at 6p25. ( 22009788 )
2011

Variations for Axenfeld-Rieger Syndrome

ClinVar genetic disease variations for Axenfeld-Rieger Syndrome:

6 (show all 36)
# Gene Variation Type Significance SNP ID Assembly Location
1 PITX2 NM_153427.2(PITX2): c.660G> A (p.Pro220=) single nucleotide variant Benign/Likely benign rs148191851 GRCh37 Chromosome 4, 111539437: 111539437
2 PITX2 NM_153427.2(PITX2): c.660G> A (p.Pro220=) single nucleotide variant Benign/Likely benign rs148191851 GRCh38 Chromosome 4, 110618281: 110618281
3 PITX2 NM_153427.2(PITX2): c.*454C> T single nucleotide variant Benign rs6533526 GRCh38 Chromosome 4, 110617671: 110617671
4 PITX2 NM_153427.2(PITX2): c.*454C> T single nucleotide variant Benign rs6533526 GRCh37 Chromosome 4, 111538827: 111538827
5 PITX2 NM_153427.2(PITX2): c.403G> A (p.Ala135Thr) single nucleotide variant Benign/Likely benign rs77144743 GRCh37 Chromosome 4, 111539694: 111539694
6 PITX2 NM_153427.2(PITX2): c.403G> A (p.Ala135Thr) single nucleotide variant Benign/Likely benign rs77144743 GRCh38 Chromosome 4, 110618538: 110618538
7 PITX2 NM_153427.2(PITX2): c.459T> G (p.Ser153=) single nucleotide variant Benign/Likely benign rs35946364 GRCh37 Chromosome 4, 111539638: 111539638
8 PITX2 NM_153427.2(PITX2): c.459T> G (p.Ser153=) single nucleotide variant Benign/Likely benign rs35946364 GRCh38 Chromosome 4, 110618482: 110618482
9 PITX2 NM_153427.2(PITX2): c.480A> T (p.Ser160=) single nucleotide variant Conflicting interpretations of pathogenicity rs141176394 GRCh37 Chromosome 4, 111539617: 111539617
10 PITX2 NM_153427.2(PITX2): c.480A> T (p.Ser160=) single nucleotide variant Conflicting interpretations of pathogenicity rs141176394 GRCh38 Chromosome 4, 110618461: 110618461
11 PITX2 NM_153427.2(PITX2): c.*572T> C single nucleotide variant Uncertain significance rs886059003 GRCh37 Chromosome 4, 111538709: 111538709
12 PITX2 NM_153427.2(PITX2): c.*572T> C single nucleotide variant Uncertain significance rs886059003 GRCh38 Chromosome 4, 110617553: 110617553
13 PITX2 NM_153427.2(PITX2): c.*376_*378delGTT deletion Uncertain significance rs886059004 GRCh37 Chromosome 4, 111538903: 111538905
14 PITX2 NM_153427.2(PITX2): c.*376_*378delGTT deletion Uncertain significance rs886059004 GRCh38 Chromosome 4, 110617747: 110617749
15 PITX2 NM_153427.2(PITX2): c.*340A> G single nucleotide variant Likely benign rs551209662 GRCh37 Chromosome 4, 111538941: 111538941
16 PITX2 NM_153427.2(PITX2): c.*340A> G single nucleotide variant Likely benign rs551209662 GRCh38 Chromosome 4, 110617785: 110617785
17 PITX2 NM_153427.2(PITX2): c.*370G> C single nucleotide variant Uncertain significance rs886059005 GRCh37 Chromosome 4, 111538911: 111538911
18 PITX2 NM_153427.2(PITX2): c.*370G> C single nucleotide variant Uncertain significance rs886059005 GRCh38 Chromosome 4, 110617755: 110617755
19 PITX2 NM_153427.2(PITX2): c.*264A> C single nucleotide variant Uncertain significance rs886059006 GRCh37 Chromosome 4, 111539017: 111539017
20 PITX2 NM_153427.2(PITX2): c.*264A> C single nucleotide variant Uncertain significance rs886059006 GRCh38 Chromosome 4, 110617861: 110617861
21 PITX2 NM_153427.2(PITX2): c.253-11delA deletion Uncertain significance rs886059007 GRCh37 Chromosome 4, 111539855: 111539855
22 PITX2 NM_153427.2(PITX2): c.253-11delA deletion Uncertain significance rs886059007 GRCh38 Chromosome 4, 110618699: 110618699
23 PITX2 NM_153427.2(PITX2): c.*611A> G single nucleotide variant Uncertain significance rs886059002 GRCh38 Chromosome 4, 110617514: 110617514
24 PITX2 NM_153427.2(PITX2): c.*611A> G single nucleotide variant Uncertain significance rs886059002 GRCh37 Chromosome 4, 111538670: 111538670
25 PITX2 NM_153427.2(PITX2): c.*522T> C single nucleotide variant Uncertain significance rs188349821 GRCh37 Chromosome 4, 111538759: 111538759
26 PITX2 NM_153427.2(PITX2): c.*522T> C single nucleotide variant Uncertain significance rs188349821 GRCh38 Chromosome 4, 110617603: 110617603
27 PITX2 NM_153427.2(PITX2): c.*471G> A single nucleotide variant Likely benign rs75911264 GRCh37 Chromosome 4, 111538810: 111538810
28 PITX2 NM_153427.2(PITX2): c.*471G> A single nucleotide variant Likely benign rs75911264 GRCh38 Chromosome 4, 110617654: 110617654
29 PITX2 NM_153427.2(PITX2): c.*176A> T single nucleotide variant Likely benign rs567517676 GRCh37 Chromosome 4, 111539105: 111539105
30 PITX2 NM_153427.2(PITX2): c.*176A> T single nucleotide variant Likely benign rs567517676 GRCh38 Chromosome 4, 110617949: 110617949
31 PITX2 NM_153427.2(PITX2): c.*119T> A single nucleotide variant Uncertain significance rs765040142 GRCh37 Chromosome 4, 111539162: 111539162
32 PITX2 NM_153427.2(PITX2): c.*119T> A single nucleotide variant Uncertain significance rs765040142 GRCh38 Chromosome 4, 110618006: 110618006
33 PITX2 NM_153427.2(PITX2): c.703C> T (p.Leu235=) single nucleotide variant Likely benign rs139401187 GRCh37 Chromosome 4, 111539394: 111539394
34 PITX2 NM_153427.2(PITX2): c.703C> T (p.Leu235=) single nucleotide variant Likely benign rs139401187 GRCh38 Chromosome 4, 110618238: 110618238
35 PITX2 NM_153427.2(PITX2): c.65A> C (p.Gln22Pro) single nucleotide variant Likely benign rs201628949 GRCh37 Chromosome 4, 111542507: 111542507
36 PITX2 NM_153427.2(PITX2): c.65A> C (p.Gln22Pro) single nucleotide variant Likely benign rs201628949 GRCh38 Chromosome 4, 110621351: 110621351

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:

37
# Name Kegg Source Accession
1 TGF-beta signaling pathway hsa04350

GO Terms for Axenfeld-Rieger Syndrome

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.93 FOXC1 FOXP2 PAX6 PITX2 POU1F1 SHOX2
2 negative regulation of transcription by RNA polymerase II GO:0000122 9.72 FOXC1 FOXP2 PAX6 POU1F1 PRDM5
3 negative regulation of cell proliferation GO:0008285 9.71 CYP1B1 GJA1 PAX6 POU1F1
4 lens development in camera-type eye GO:0002088 9.52 GJA1 PAX6
5 eye development GO:0001654 9.51 FOXC1 PAX6
6 blood vessel morphogenesis GO:0048514 9.49 CYP1B1 GJA1
7 pituitary gland development GO:0021983 9.48 PAX6 POU1F1
8 positive regulation of mesenchymal cell proliferation GO:0002053 9.43 FOXP2 SHOX2
9 embryonic heart tube development GO:0035050 9.37 FOXC1 GJA1
10 iris morphogenesis GO:0061072 9.26 PAX6 PITX2
11 lacrimal gland development GO:0032808 9.16 FOXC1 PAX6
12 somatotropin secreting cell differentiation GO:0060126 8.96 PITX2 POU1F1
13 camera-type eye development GO:0043010 8.92 FOXC1 FOXP2 PAX6 PITX2

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 9.86 FOXC1 FOXP2 PAX6 PITX2 POU1F1 PRDM5
2 DNA-binding transcription factor activity GO:0003700 9.77 FOXC1 FOXP2 PAX6 PITX2 POU1F1
3 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.7 FOXC1 FOXP2 PAX6 PITX2 POU1F1 PRDM5
4 transcription factor binding GO:0008134 9.62 FOXC1 PAX6 PITX2 POU1F1
5 RNA polymerase II activating transcription factor binding GO:0001102 9.4 PITX2 POU1F1
6 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.35 FOXP2 PAX6 PITX2 POU1F1 PRDM5
7 sequence-specific DNA binding GO:0043565 9.17 FOXC1 FOXP2 PAX6 PITX2 POU1F1 PRDM5

Sources for Axenfeld-Rieger Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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