MCID: AXN002
MIFTS: 53

Axenfeld-Rieger Syndrome

Categories: Rare diseases, Eye diseases, Fetal diseases, Genetic 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 6
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 2. 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 hypospadias and everted lower lip vermilion

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.

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

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 113)
# Related Disease Score Top Affiliating Genes
1 axenfeld-rieger syndrome, type 3 35.1 FOXC1 PITX2
2 axenfeld-rieger syndrome, type 2 34.1 FOXC1 OPTN PITX2
3 axenfeld-rieger syndrome, type 1 33.9 PAX6 PITX2 PRDM5 SHOX2
4 anterior segment dysgenesis 33.2 CYP1B1 FOXC1 PAX6 PITX2
5 anterior segment dysgenesis 4 32.8 FOXC1 PITX2
6 anterior segment dysgenesis 1 32.7 PAX6 PITX2
7 persistent hyperplastic primary vitreous 30.8 FOXC1 PAX6 PITX2
8 peters-plus syndrome 30.6 CYP1B1 FOXC1 PAX6 PITX2
9 glaucoma 3, primary congenital, a 29.6 CYP1B1 FOXC1 OPTN PAX6 PITX2
10 axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities 12.2
11 short syndrome 12.2
12 androgen insensitivity syndrome 11.6
13 familial mediterranean fever 11.5
14 hyper-ige recurrent infection syndrome, autosomal recessive 11.4
15 renal tubular acidosis, distal, with progressive nerve deafness 11.4
16 immunodeficiency 27a 11.3
17 polycystic kidney disease 4 with or without polycystic liver disease 11.3
18 myopathy, centronuclear, 2 11.3
19 hypophosphatemic rickets, autosomal recessive, 1 11.3
20 al-raqad syndrome 11.3
21 anterior segment dysgenesis 3 11.2
22 anterior segment dysgenesis 2 11.2
23 oculodentodigital dysplasia, autosomal recessive 11.1
24 epidermolysis bullosa, nonspecific, autosomal recessive 11.1
25 prostate cancer 11.1
26 ectopia pupillae 11.1
27 epidermolysis bullosa dystrophica, autosomal recessive 11.1
28 renal tubular acidosis, distal, with hemolytic anemia 10.9
29 alzheimer disease 10.9
30 breast cancer 10.9
31 lupus erythematosus 10.8
32 leukemia 10.8
33 fatty liver disease 10.8
34 schizophrenia 10.8
35 lymphoma 10.8
36 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative 10.8
37 epidermolysis bullosa simplex, autosomal recessive 1 10.8
38 renal tubular acidosis, proximal, with ocular abnormalities and mental retardation 10.8
39 mitochondrial dna depletion syndrome 12b , autosomal recessive 10.8
40 epidermolysis bullosa simplex, autosomal recessive 2 10.8
41 emery-dreifuss muscular dystrophy 3, autosomal recessive 10.8
42 autosomal recessive non-syndromic intellectual disability 10.8
43 myeloid and lymphoid neoplasms with eosinophilia and abnormalities of pdgfra, pdgfrb, and fgfr1 10.8
44 hypohidrotic ectodermal dysplasia autosomal recessive 10.8
45 ovarian cancer 10.8
46 diabetes mellitus, noninsulin-dependent 10.8
47 parkinson disease, late-onset 10.8
48 rheumatoid arthritis 10.8
49 depression 10.8
50 amyotrophic lateral sclerosis 1 10.8

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

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

26 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.58 FOXP2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-109 9.58 GJA1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.58 FOXP2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-142 9.58 PRDM5
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-175 9.58 GJA1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-187 9.58 FOXP2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-191 9.58 POU1F1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-203 9.58 GJA1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 9.58 POU1F1 PRDM5 FOXP2 GJA1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-22 9.58 PRDM5
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.58 GJA1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-55 9.58 FOXP2
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 9.58 GJA1
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-75 9.58 FOXP2
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 9.58 FOXP2

MGI Mouse Phenotypes related to Axenfeld-Rieger Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.13 SHOX2 CYP1B1 PITX2 FOXC1 POU1F1 GJA1
2 craniofacial MP:0005382 10 SHOX2 PITX2 FOXC1 POU1F1 GJA1 COL1A1
3 nervous system MP:0003631 9.92 SHOX2 PAX6 COL25A1 PITX2 FOXC1 POU1F1
4 muscle MP:0005369 9.85 COL25A1 PITX2 FOXC1 GJA1 COL1A1 PAX6
5 limbs/digits/tail MP:0005371 9.8 SHOX2 PITX2 FOXC1 GJA1 COL1A1
6 pigmentation MP:0001186 9.65 PITX2 FOXC1 POU1F1 COL1A1 PAX6
7 respiratory system MP:0005388 9.63 COL25A1 PITX2 FOXC1 GJA1 COL1A1 PAX6
8 skeleton MP:0005390 9.56 SHOX2 PITX2 FOXC1 POU1F1 GJA1 PRDM5
9 vision/eye MP:0005391 9.1 PAX6 CYP1B1 PITX2 FOXC1 GJA1 COL1A1

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, Pituitary, Hypothalamus, Endothelial, Brain

Publications for Axenfeld-Rieger Syndrome

Articles related to Axenfeld-Rieger Syndrome:

(show top 50) (show all 107)
# 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. ( 28972279 )
2017
6
A Novel Mutation in PITX2 in a Patient with Axenfeld-Rieger Syndrome. ( 28611552 )
2017
7
A Chinese family with Axenfeld-Rieger syndrome: report of the clinical and genetic findings. ( 28730073 )
2017
8
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
9
Axenfeld-Rieger Syndrome and Leukoencephalopathy Caused by a Mutation in FOXC1. ( 27697311 )
2017
10
Comparison of Bioinformatics Prediction, Molecular Modeling, and Functional Analyses of FOXC1 Mutations in Patients with Axenfeld-Rieger Syndrome. ( 27804176 )
2017
11
Novel de novo FOXC1 nonsense mutation in an Axenfeld-Rieger syndrome patient. ( 28432732 )
2017
12
The rare Axenfeld-Rieger syndrome with systemic anomalies: A case report and brief review of literature. ( 28816964 )
2017
13
Novel Genetic Findings in a Chinese Family with Axenfeld-Rieger Syndrome. ( 28695001 )
2017
14
Unclassified Axenfeld-Rieger Syndrome: A CASE SERIES and Review of Literature. ( 27929720 )
2016
15
A Novel Homozygous Mutation in FOXC1 Causes Axenfeld Rieger Syndrome with Congenital Glaucoma. ( 27463523 )
2016
16
Novel PITX2 gene mutations in patients with Axenfeld-Rieger syndrome. ( 27009473 )
2016
17
A Rare Recurrent 4q25 Proximal Deletion Not Involving the PITX2 Gene: A Genomic Disorder Distinct from Axenfeld-Rieger Syndrome. ( 27587989 )
2016
18
Whole exome sequencing identifies a heterozygous missense variant in the PRDM5 gene in a family with Axenfeld-Rieger syndrome. ( 26489929 )
2016
19
Heterozygous Pitx2 Null Mice Accurately Recapitulate the Ocular Features of Axenfeld-Rieger Syndrome and Congenital Glaucoma. ( 27654429 )
2016
20
Mutations in zebrafish pitx2 model congenital malformations in Axenfeld-Rieger syndrome but do not disrupt left-right placement of visceral organs. ( 27297886 )
2016
21
Whole exome sequencing reveals a novel de novo FOXC1 mutation in a patient with unrecognized Axenfeld-Rieger syndrome and glaucoma. ( 25967385 )
2015
22
PITX2 Loss-of-Function Mutation Contributes to Congenital Endocardial Cushion Defect and Axenfeld-Rieger Syndrome. ( 25893250 )
2015
23
Axenfeld-Rieger syndrome: a case report. ( 26281856 )
2015
24
A Family with Axenfeld-Rieger Syndrome: Report of the Clinical and Genetic Findings. ( 26240509 )
2015
25
Axenfeld-Rieger syndrome associated with severe maxillofacial and skeletal anomalies. ( 26097324 )
2015
26
Dysfunction of the stress-responsive FOXC1 transcription factor contributes to the earlier-onset glaucoma observed in Axenfeld-Rieger syndrome patients. ( 24556684 )
2014
27
Axenfeld-Rieger syndrome: further clinical and array delineation of four unrelated patients with a 4q25 microdeletion. ( 24715413 )
2014
28
A Novel Mutation of FOXC1 (R127L) in an Axenfeld-Rieger Syndrome Family with Glaucoma and Multiple Congenital Heart Diseases. ( 24914578 )
2014
29
A model for the molecular underpinnings of tooth defects in Axenfeld-Rieger syndrome. ( 23975681 )
2014
30
Novel occurrence of axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome. ( 24722273 )
2014
31
Identification of a novel frameshift mutation in PITX2 gene in a Chinese family with Axenfeld-Rieger syndrome. ( 24390743 )
2014
32
OLOGEN(Ar) implant in the management of glaucoma in an unusual case of Axenfeld-Rieger syndrome. ( 25136237 )
2014
33
Cardiac anomalies in Axenfeld-Rieger syndrome due to a novel FOXC1 mutation. ( 23239455 )
2013
34
Novel occurrence of axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome. ( 24212221 )
2013
35
Magnetic resonance imaging findings in Axenfeld-Rieger syndrome. ( 23723681 )
2013
36
A novel forkhead box C1 gene mutation in a Korean family with Axenfeld-Rieger syndrome. ( 23687430 )
2013
37
Two Cases of Axenfeld-Rieger Syndrome, Report of the Complex Pathology and Treatment. ( 23886080 )
2013
38
Novel c.300_301delinsT mutation in PITX2 in a Korean family with Axenfeld-Rieger syndrome. ( 24003428 )
2013
39
Unilateral inferior rectus hypoplasia in a child with Axenfeld-Rieger syndrome. ( 22681952 )
2012
40
Axenfeld-Rieger syndrome: new perspectives. ( 22199394 )
2012
41
Anaesthetic challenges in a patient with Axenfeld Rieger Syndrome. ( 25885517 )
2012
42
Studies on Axenfeld-Rieger syndrome patients and mice reveal Foxc1's role in corneal neovascularization. ( 22308435 )
2012
43
A zebrafish model of axenfeld-rieger syndrome reveals that pitx2 regulation by retinoic acid is essential for ocular and craniofacial development. ( 22125274 )
2012
44
Axenfeld-Rieger syndrome in monozygotic twins. ( 21278591 )
2011
45
Clinical utility gene card for: Axenfeld-Rieger syndrome. ( 20940740 )
2011
46
Axenfeld-Rieger anomaly and Axenfeld-Rieger syndrome: clinical, molecular-cytogenetic, and DNA array analyses of three patients with chromosomal defects at 6p25. ( 22009788 )
2011
47
Potential novel mechanism for Axenfeld-Rieger syndrome: deletion of a distant region containing regulatory elements of PITX2. ( 20881290 )
2011
48
Axenfeld-Rieger syndrome: dentofacial manifestation and oral rehabilitation considerations. ( 22104715 )
2011
49
Combined aniridia ring implantation and cataract surgery in an Axenfeld-Rieger syndrome: a UBM report. ( 21139500 )
2011
50
Unusual presentation in Axenfeld-Rieger syndrome. ( 21666320 )
2011

Variations for Axenfeld-Rieger Syndrome

ClinVar genetic disease variations for Axenfeld-Rieger Syndrome:

6
(show all 45)
# 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 FRAS1 NM_001166133.1(FRAS1): c.3700G> A (p.Ala1234Thr) single nucleotide variant Likely benign rs199940702 GRCh37 Chromosome 4, 79308580: 79308580
8 FRAS1 NM_001166133.1(FRAS1): c.3700G> A (p.Ala1234Thr) single nucleotide variant Likely benign rs199940702 GRCh38 Chromosome 4, 78387426: 78387426
9 DACT1 NM_016651.5(DACT1): c.2010G> C (p.Lys670Asn) single nucleotide variant Likely benign rs754847137 GRCh38 Chromosome 14, 58646633: 58646633
10 DACT1 NM_016651.5(DACT1): c.2010G> C (p.Lys670Asn) single nucleotide variant Likely benign rs754847137 GRCh37 Chromosome 14, 59113351: 59113351
11 CHST5 NM_024533.4(CHST5): c.737T> C (p.Ile246Thr) single nucleotide variant Likely benign rs869025261 GRCh38 Chromosome 16, 75529648: 75529648
12 CHST5 NM_024533.4(CHST5): c.737T> C (p.Ile246Thr) single nucleotide variant Likely benign rs869025261 GRCh37 Chromosome 16, 75563546: 75563546
13 PITX2 NM_153427.2(PITX2): c.459T> G (p.Ser153=) single nucleotide variant Benign/Likely benign rs35946364 GRCh37 Chromosome 4, 111539638: 111539638
14 PITX2 NM_153427.2(PITX2): c.459T> G (p.Ser153=) single nucleotide variant Benign/Likely benign rs35946364 GRCh38 Chromosome 4, 110618482: 110618482
15 46;XY;t(2;4)(p23;q27)dn Translocation Likely pathogenic
16 PITX2 NM_153427.2(PITX2): c.480A> T (p.Ser160=) single nucleotide variant Conflicting interpretations of pathogenicity rs141176394 GRCh37 Chromosome 4, 111539617: 111539617
17 PITX2 NM_153427.2(PITX2): c.480A> T (p.Ser160=) single nucleotide variant Conflicting interpretations of pathogenicity rs141176394 GRCh38 Chromosome 4, 110618461: 110618461
18 PITX2 NM_153427.2(PITX2): c.*572T> C single nucleotide variant Uncertain significance rs886059003 GRCh37 Chromosome 4, 111538709: 111538709
19 PITX2 NM_153427.2(PITX2): c.*572T> C single nucleotide variant Uncertain significance rs886059003 GRCh38 Chromosome 4, 110617553: 110617553
20 PITX2 NM_153427.2(PITX2): c.*376_*378delGTT deletion Uncertain significance rs886059004 GRCh37 Chromosome 4, 111538903: 111538905
21 PITX2 NM_153427.2(PITX2): c.*376_*378delGTT deletion Uncertain significance rs886059004 GRCh38 Chromosome 4, 110617747: 110617749
22 PITX2 NM_153427.2(PITX2): c.*340A> G single nucleotide variant Likely benign rs551209662 GRCh37 Chromosome 4, 111538941: 111538941
23 PITX2 NM_153427.2(PITX2): c.*340A> G single nucleotide variant Likely benign rs551209662 GRCh38 Chromosome 4, 110617785: 110617785
24 PITX2 NM_153427.2(PITX2): c.*370G> C single nucleotide variant Uncertain significance rs886059005 GRCh37 Chromosome 4, 111538911: 111538911
25 PITX2 NM_153427.2(PITX2): c.*370G> C single nucleotide variant Uncertain significance rs886059005 GRCh38 Chromosome 4, 110617755: 110617755
26 PITX2 NM_153427.2(PITX2): c.*264A> C single nucleotide variant Uncertain significance rs886059006 GRCh37 Chromosome 4, 111539017: 111539017
27 PITX2 NM_153427.2(PITX2): c.*264A> C single nucleotide variant Uncertain significance rs886059006 GRCh38 Chromosome 4, 110617861: 110617861
28 PITX2 NM_153427.2(PITX2): c.253-11delA deletion Uncertain significance rs886059007 GRCh37 Chromosome 4, 111539855: 111539855
29 PITX2 NM_153427.2(PITX2): c.253-11delA deletion Uncertain significance rs886059007 GRCh38 Chromosome 4, 110618699: 110618699
30 PITX2 NM_153427.2(PITX2): c.*611A> G single nucleotide variant Uncertain significance rs886059002 GRCh38 Chromosome 4, 110617514: 110617514
31 PITX2 NM_153427.2(PITX2): c.*611A> G single nucleotide variant Uncertain significance rs886059002 GRCh37 Chromosome 4, 111538670: 111538670
32 PITX2 NM_153427.2(PITX2): c.*522T> C single nucleotide variant Uncertain significance rs188349821 GRCh37 Chromosome 4, 111538759: 111538759
33 PITX2 NM_153427.2(PITX2): c.*522T> C single nucleotide variant Uncertain significance rs188349821 GRCh38 Chromosome 4, 110617603: 110617603
34 PITX2 NM_153427.2(PITX2): c.*471G> A single nucleotide variant Likely benign rs75911264 GRCh37 Chromosome 4, 111538810: 111538810
35 PITX2 NM_153427.2(PITX2): c.*471G> A single nucleotide variant Likely benign rs75911264 GRCh38 Chromosome 4, 110617654: 110617654
36 PITX2 NM_153427.2(PITX2): c.*176A> T single nucleotide variant Likely benign rs567517676 GRCh37 Chromosome 4, 111539105: 111539105
37 PITX2 NM_153427.2(PITX2): c.*176A> T single nucleotide variant Likely benign rs567517676 GRCh38 Chromosome 4, 110617949: 110617949
38 PITX2 NM_153427.2(PITX2): c.*119T> A single nucleotide variant Uncertain significance rs765040142 GRCh37 Chromosome 4, 111539162: 111539162
39 PITX2 NM_153427.2(PITX2): c.*119T> A single nucleotide variant Uncertain significance rs765040142 GRCh38 Chromosome 4, 110618006: 110618006
40 PITX2 NM_153427.2(PITX2): c.703C> T (p.Leu235=) single nucleotide variant Likely benign rs139401187 GRCh37 Chromosome 4, 111539394: 111539394
41 PITX2 NM_153427.2(PITX2): c.703C> T (p.Leu235=) single nucleotide variant Likely benign rs139401187 GRCh38 Chromosome 4, 110618238: 110618238
42 PITX2 NM_153427.2(PITX2): c.65A> C (p.Gln22Pro) single nucleotide variant Likely benign rs201628949 GRCh37 Chromosome 4, 111542507: 111542507
43 PITX2 NM_153427.2(PITX2): c.65A> C (p.Gln22Pro) single nucleotide variant Likely benign rs201628949 GRCh38 Chromosome 4, 110621351: 110621351
44 PITX2 NM_001204399.1(PITX2): c.148C> T (p.Gln50Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 4, 111542424: 111542424
45 PITX2 NM_001204399.1(PITX2): c.148C> T (p.Gln50Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 4, 110621268: 110621268

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 28)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.89 COL1A1 FOXC1 PAX6 PITX2 POU1F1
2 negative regulation of cell proliferation GO:0008285 9.88 CYP1B1 GJA1 PAX6 POU1F1
3 visual perception GO:0007601 9.8 COL1A1 CYP1B1 PAX6
4 in utero embryonic development GO:0001701 9.79 FOXC1 GJA1 PITX2
5 heart development GO:0007507 9.76 FOXC1 GJA1 PITX2 SHOX2
6 skeletal system development GO:0001501 9.75 COL1A1 FOXC1 SHOX2
7 anatomical structure morphogenesis GO:0009653 9.74 FOXC1 FOXP2 PITX2
8 negative regulation of transcription by RNA polymerase II GO:0000122 9.73 FOXC1 FOXP2 PAX6 POU1F1 PRDM5 SHOX2
9 neuron migration GO:0001764 9.71 GJA1 PAX6 PITX2
10 osteoblast differentiation GO:0001649 9.7 COL1A1 GJA1 SHOX2
11 lens development in camera-type eye GO:0002088 9.63 GJA1 PAX6
12 eye development GO:0001654 9.63 FOXC1 PAX6
13 positive regulation of DNA binding GO:0043388 9.61 FOXC1 PITX2
14 positive regulation of mesenchymal cell proliferation GO:0002053 9.61 FOXP2 SHOX2
15 blood vessel morphogenesis GO:0048514 9.6 CYP1B1 GJA1
16 endochondral ossification GO:0001958 9.59 COL1A1 FOXC1
17 embryonic heart tube development GO:0035050 9.56 FOXC1 GJA1
18 embryonic digestive tract morphogenesis GO:0048557 9.55 PITX2 SHOX2
19 blood vessel development GO:0001568 9.54 COL1A1 FOXC1 PAX6
20 iris morphogenesis GO:0061072 9.48 PAX6 PITX2
21 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.43 COL1A1 SHOX2
22 lacrimal gland development GO:0032808 9.4 FOXC1 PAX6
23 collagen fibril organization GO:0030199 9.33 COL1A1 CYP1B1 FOXC1
24 somatotropin secreting cell differentiation GO:0060126 9.32 PITX2 POU1F1
25 pituitary gland development GO:0021983 9.13 PAX6 PITX2 POU1F1
26 camera-type eye development GO:0043010 8.92 FOXC1 FOXP2 PAX6 PITX2
27 regulation of transcription, DNA-templated GO:0006355 10.11 FOXC1 FOXP2 PAX6 PITX2 POU1F1 PRDM5
28 positive regulation of transcription by RNA polymerase II GO:0045944 10.04 FOXC1 PAX6 PITX2 POU1F1 SHOX2

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

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 9.8 FOXC1 FOXP2 PAX6 PITX2 POU1F1 PRDM5
2 DNA binding GO:0003677 9.76 FOXC1 FOXP2 PAX6 PITX2 POU1F1 PRDM5
3 transcription factor binding GO:0008134 9.62 FOXC1 PAX6 PITX2 POU1F1
4 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.35 FOXP2 PAX6 PITX2 POU1F1 PRDM5
5 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
Content
Loading form....