MCID: AXN002
MIFTS: 57

Axenfeld-Rieger Syndrome

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 54 26 38 6 45 15 41 74
Rieger Syndrome 54 26 30 56 6 74
Axenfeld Syndrome 12 77 26 74
Axenfeld Anomaly 26 60 30
Rieger Anomaly 26 60
Iridogoniodysgenesis with Somatic Anomalies 54
Rieger Eye Malformation Sequence 74
Axenfeld and Rieger Anomaly 26
Goniodysgenesis Hypodontia 54
Rgs - Rieger Syndrome 12
Anomaly, Rieger's 12
Hagedoom Syndrome 12
Rieger's Anomaly 12
Axra 26
Axrs 26
Ars 26

Characteristics:

Orphanet epidemiological data:

60
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 : 54 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 1 and axenfeld-rieger syndrome, type 3. 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 Heart Development. The drugs Guaifenesin and Chlorpheniramine, phenylpropanolamine drug combination have been mentioned in the context of this disorder. Affiliated tissues include heart, eye and skin, and related phenotypes are posterior embryotoxon and aplasia/hypoplasia of the iris

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

Genetics Home Reference : 26 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 : 77 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 7218)
# Related Disease Score Top Affiliating Genes
1 axenfeld-rieger syndrome, type 1 34.7 PAX6 PITX2 PRDM5
2 axenfeld-rieger syndrome, type 3 34.5 CYP1B1 FOXC1 PAX6 PITX2
3 axenfeld-rieger syndrome, type 2 34.3 ASB10 FOXC1 PITX2
4 anterior segment dysgenesis 33.4 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 30.8 CYP1B1 PITX2
8 peters-plus syndrome 30.6 CYP1B1 FOXC1 PAX6 PITX2
9 anterior segment dysgenesis 4 30.5 ASB10 FOXC1 PITX2
10 aniridia 1 30.4 CYP1B1 FOXC1 PAX6 PITX2
11 persistent hyperplastic primary vitreous 30.4 FOXC1 PITX2
12 glaucoma 3, primary congenital, a 30.4 CYP1B1 FOXC1 PAX6 PITX2 SH3PXD2B
13 early-onset glaucoma 30.3 CYP1B1 PITX2
14 anterior segment dysgenesis 5 30.3 CYP1B1 PAX6
15 adamantinoma of long bones 29.9 CYP1B1 FOXC1 PAX6 PITX2
16 primary congenital glaucoma 28.7 CYP1B1 FOXC1 PITX2 SH3PXD2B
17 axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities 12.4
18 brain small vessel disease 1 with or without ocular anomalies 11.9
19 androgen insensitivity syndrome 11.8
20 familial mediterranean fever 11.7
21 hyper-ige recurrent infection syndrome 2, autosomal recessive 11.6
22 renal tubular acidosis, distal, with progressive nerve deafness 11.6
23 immunodeficiency 27a 11.5
24 polycystic kidney disease 4 with or without polycystic liver disease 11.5
25 myopathy, centronuclear, 2 11.5
26 hypophosphatemic rickets, autosomal recessive, 1 11.5
27 ramon syndrome 11.5
28 oculodentodigital dysplasia, autosomal recessive 11.3
29 epidermolysis bullosa, nonspecific, autosomal recessive 11.3
30 ectopia pupillae 11.3
31 epidermolysis bullosa dystrophica, autosomal recessive 11.3
32 prostate cancer 11.3
33 renal tubular acidosis, distal, with hemolytic anemia 11.1
34 alzheimer disease 11.1
35 breast cancer 11.0
36 fatty liver disease 11.0
37 lupus erythematosus 11.0
38 leukemia 11.0
39 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative 11.0
40 epidermolysis bullosa simplex, autosomal recessive 1 11.0
41 renal tubular acidosis, proximal, with ocular abnormalities and mental retardation 11.0
42 mitochondrial dna depletion syndrome 12b , autosomal recessive 11.0
43 epidermolysis bullosa simplex, autosomal recessive 2 11.0
44 autosomal recessive non-syndromic intellectual disability 11.0
45 myeloid and lymphoid neoplasms with eosinophilia and abnormalities of pdgfra, pdgfrb, and fgfr1 11.0
46 hypohidrotic ectodermal dysplasia autosomal recessive 11.0
47 parkinson disease, late-onset 11.0
48 ovarian cancer 11.0
49 schizophrenia 11.0
50 migraine with or without aura 1 11.0

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:

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

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

27 (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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.8 FOXC1 GJA1 PAX6 PITX2 POU1F1 SH3PXD2B
2 muscle MP:0005369 9.73 COL25A1 FOXC1 GJA1 PAX6 PITX2 SH3PXD2B
3 skeleton MP:0005390 9.5 FOXC1 GJA1 PAX6 PITX2 POU1F1 PRDM5
4 pigmentation MP:0001186 9.46 FOXC1 PAX6 PITX2 POU1F1
5 vision/eye MP:0005391 9.1 CYP1B1 FOXC1 GJA1 PAX6 PITX2 SH3PXD2B

Drugs & Therapeutics for Axenfeld-Rieger Syndrome

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

(show all 24)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
2 Chlorpheniramine, phenylpropanolamine drug combination Phase 4
3
Acetylcarnitine Approved, Investigational Phase 2 3040-38-8 7045767
4
Arsenic trioxide Approved, Investigational Phase 2 1327-53-3 518740
5
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
6 Nutrients Phase 2
7 Anti-Retroviral Agents Phase 2
8 Vitamin B Complex Phase 2
9 carnitine Phase 2
10 Trace Elements Phase 2
11 Folate Phase 2
12 Nootropic Agents Phase 2
13 Vitamins Phase 2
14 Vitamin B9 Phase 2
15 Micronutrients Phase 2
16 Pharmaceutical Solutions Phase 2
17
Zinc Approved, Investigational Not Applicable 7440-66-6 32051
18 insulin ,Not Applicable
19 Insulin, Globin Zinc ,Not Applicable
20 Hypoglycemic Agents Not Applicable
21 Androgens
22 Hormones
23 Immunologic Factors
24 Autoantibodies

Interventional clinical trials:

(show all 23)
# Name Status NCT ID Phase Drugs
1 Reveal® XT Performance Trial (XPECT) Completed NCT00680927 Phase 4
2 ALCAR Prophylaxis Study Unknown status NCT00225160 Phase 2 acetyl L-carnitine
3 Cognitive Behavioural Therapy for Obesity Completed NCT00294268 Phase 2
4 Treatment of Chronic Graft Versus Host Disease With Arsenic Trioxide Recruiting NCT02966301 Phase 2 Arsenic Trioxide Injectable Solution
5 Ketogenic Diet for Recurrent Glioblastoma Completed NCT00575146 Phase 1
6 Genetic Findings in a Chinese Family With Axenfeld-Rieger Syndrom Completed NCT03009188
7 Abnormalities of the Eye's Anterior Chamber, Iris, Cornea and Lens Completed NCT00001161
8 Calorie-restricted, Ketogenic Diet and Transient Fasting During Reirradiation for Patients With Recurrent Glioblastoma Completed NCT01754350 Not Applicable
9 Validation Study of G4 User Interface Completed NCT01142895
10 Comparing Continuous Subcutaneous Insulin Infusion With Multiple Daily Injections to Reach HbA1c Targets in Children and Adolescents With Type 1 Diabetes Completed NCT02403375 Not Applicable
11 INSIGHT (R)XT. Indications for Diagnosis, Arrhythmia and Monitoring of Reveal XT Completed NCT00680550
12 Sonication of Explanted Breast Implants for Detection of Subclinical Infection Completed NCT01138891
13 Effectiveness and Safety of Firmagon® Completed NCT00930319
14 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
15 Evaluation of Non-Invasive Assays for the Detection of Urothelial Cancer Recruiting NCT00872495
16 Cognitive-Communication Screening and Early Therapy for Adults With Mild TBI Recruiting NCT03230656 Not Applicable
17 Comparison of Software-assisted Implantation of Elastic Spine Pad (TM) With Respect to Postoperative Change in Neck Disability Index (NDI) With the Conventional Disc Spacer Squale (TM) After Anterior Cervical Discectomy for Cervical Disc Prolapse Recruiting NCT02936765 Not Applicable
18 Comparison of Software-assisted Implantation of Elastic Spine Pad (TM) With Respect to Postoperative Change in Neck Disability Index (NDI) With the Conventional Disc Prosthesis Rotaio (TM) After Anterior Cervical Discectomy for Cervical Disc Prolapse Recruiting NCT02936739 Not Applicable
19 Addition of microRNA Blood Test to Lung Cancer Screening Low Dose CT Recruiting NCT03452514
20 Prevalence of Cutaneous Autoimmune Phenomena in HIV Infected Patients Recruiting NCT03129308
21 Blood Sample Collection in Subjects Participating in a Lung Cancer Screening Program Recruiting NCT03628638
22 Blood Sample Collection in Subjects With Pulmonary Nodules or CT Suspicion of Lung Cancer or Pathologically Diagnosed Lung Cancer Recruiting NCT03633006
23 An fMRI Study of Attention and Effort After Concussion Terminated NCT00653029

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 30
2 Axenfeld Anomaly 30

Anatomical Context for Axenfeld-Rieger Syndrome

MalaCards organs/tissues related to Axenfeld-Rieger Syndrome:

42
Heart, Eye, Skin, Breast, Bone, Brain, Kidney

Publications for Axenfeld-Rieger Syndrome

Articles related to Axenfeld-Rieger Syndrome:

(show top 50) (show all 160)
# Title Authors Year
1
Sterile keratitis after uneventful corneal collagen cross-linking in a patient with Axenfeld-Rieger syndrome. ( 29594793 )
2019
2
Corneal crosslinking in a case with Axenfeld-Rieger syndrome and unilateral pellucid marginal degeneration. ( 30729234 )
2019
3
Axenfeld-Rieger syndrome: A case report. ( 30904290 )
2019
4
Unclassified Axenfeld-Rieger Syndrome: A CASE SERIES and Review of Literature. ( 27929720 )
2018
5
Axenfeld-Rieger syndrome. ( 28972279 )
2018
6
PITX2-related Axenfeld-Rieger Syndrome with a Novel Pathogenic Variant (c.475_476delCT). ( 29401568 )
2018
7
Axenfeld-Rieger syndrome. ( 29793789 )
2018
8
Mutation Survey of Candidate Genes and Genotype-Phenotype Analysis in 20 Southeastern Chinese Patients with Axenfeld-Rieger Syndrome. ( 29939776 )
2018
9
Axenfeld-Rieger syndrome as a rare cause of umbilical abnormality. ( 30255586 )
2018
10
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
11
A novel 4q25 microdeletion encompassing PITX2 associated with Rieger syndrome. ( 29774977 )
2018
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
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
15
Novel de novo FOXC1 nonsense mutation in an Axenfeld-Rieger syndrome patient. ( 28432732 )
2017
16
A Novel Mutation in PITX2 in a Patient with Axenfeld-Rieger Syndrome. ( 28611552 )
2017
17
Novel Genetic Findings in a Chinese Family with Axenfeld-Rieger Syndrome. ( 28695001 )
2017
18
A Chinese family with Axenfeld-Rieger syndrome: report of the clinical and genetic findings. ( 28730073 )
2017
19
The rare Axenfeld-Rieger syndrome with systemic anomalies: A case report and brief review of literature. ( 28816964 )
2017
20
Novel PITX2 gene mutations in patients with Axenfeld-Rieger syndrome. ( 27009473 )
2016
21
Heterozygous Pitx2 Null Mice Accurately Recapitulate the Ocular Features of Axenfeld-Rieger Syndrome and Congenital Glaucoma. ( 27654429 )
2016
22
A Novel Mutation of FOXC1 (R127L) in an Axenfeld-Rieger Syndrome Family with Glaucoma and Multiple Congenital Heart Diseases. ( 24914578 )
2016
23
Whole exome sequencing identifies a heterozygous missense variant in the PRDM5 gene in a family with Axenfeld-Rieger syndrome. ( 26489929 )
2016
24
Mutations in zebrafish pitx2 model congenital malformations in Axenfeld-Rieger syndrome but do not disrupt left-right placement of visceral organs. ( 27297886 )
2016
25
A Novel Homozygous Mutation in FOXC1 Causes Axenfeld Rieger Syndrome with Congenital Glaucoma. ( 27463523 )
2016
26
A Rare Recurrent 4q25 Proximal Deletion Not Involving the PITX2 Gene: A Genomic Disorder Distinct from Axenfeld-Rieger Syndrome. ( 27587989 )
2016
27
Congenital hypothyroidism in Rieger Syndrome. ( 24666291 )
2016
28
PITX2 Loss-of-Function Mutation Contributes to Congenital Endocardial Cushion Defect and Axenfeld-Rieger Syndrome. ( 25893250 )
2015
29
Whole exome sequencing reveals a novel de novo FOXC1 mutation in a patient with unrecognized Axenfeld-Rieger syndrome and glaucoma. ( 25967385 )
2015
30
Axenfeld-Rieger syndrome associated with severe maxillofacial and skeletal anomalies. ( 26097324 )
2015
31
A Family with Axenfeld-Rieger Syndrome: Report of the Clinical and Genetic Findings. ( 26240509 )
2015
32
Axenfeld-Rieger syndrome: a case report. ( 26281856 )
2015
33
Two cases of axenfeld-rieger syndrome, report of the complex pathology and treatment. ( 23886080 )
2014
34
A model for the molecular underpinnings of tooth defects in Axenfeld-Rieger syndrome. ( 23975681 )
2014
35
Identification of a novel frameshift mutation in PITX2 gene in a Chinese family with Axenfeld-Rieger syndrome. ( 24390743 )
2014
36
Dysfunction of the stress-responsive FOXC1 transcription factor contributes to the earlier-onset glaucoma observed in Axenfeld-Rieger syndrome patients. ( 24556684 )
2014
37
Axenfeld-Rieger syndrome: further clinical and array delineation of four unrelated patients with a 4q25 microdeletion. ( 24715413 )
2014
38
Novel occurrence of axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome. ( 24722273 )
2014
39
OLOGEN(®) implant in the management of glaucoma in an unusual case of Axenfeld-Rieger syndrome. ( 25136237 )
2014
40
Cardiac anomalies in Axenfeld-Rieger syndrome due to a novel FOXC1 mutation. ( 23239455 )
2013
41
A novel forkhead box C1 gene mutation in a Korean family with Axenfeld-Rieger syndrome. ( 23687430 )
2013
42
Magnetic resonance imaging findings in Axenfeld-Rieger syndrome. ( 23723681 )
2013
43
Novel c.300_301delinsT mutation in PITX2 in a Korean family with Axenfeld-Rieger syndrome. ( 24003428 )
2013
44
A zebrafish model of axenfeld-rieger syndrome reveals that pitx2 regulation by retinoic acid is essential for ocular and craniofacial development. ( 22125274 )
2012
45
Axenfeld-Rieger syndrome: new perspectives. ( 22199394 )
2012
46
Studies on Axenfeld-Rieger syndrome patients and mice reveal Foxc1's role in corneal neovascularization. ( 22308435 )
2012
47
Unilateral inferior rectus hypoplasia in a child with Axenfeld-Rieger syndrome. ( 22681952 )
2012
48
Anaesthetic challenges in a patient with Axenfeld Rieger Syndrome. ( 25885517 )
2012
49
Potential novel mechanism for Axenfeld-Rieger syndrome: deletion of a distant region containing regulatory elements of PITX2. ( 20881290 )
2011
50
Clinical utility gene card for: Axenfeld-Rieger syndrome. ( 20940740 )
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 GRCh38 Chromosome 4, 110617553: 110617553
12 PITX2 NM_153427.2(PITX2): c.*572T> C single nucleotide variant Uncertain significance rs886059003 GRCh37 Chromosome 4, 111538709: 111538709
13 PITX2 NM_153427.2(PITX2): c.*376_*378delGTT deletion Uncertain significance rs886059004 GRCh38 Chromosome 4, 110617747: 110617749
14 PITX2 NM_153427.2(PITX2): c.*376_*378delGTT deletion Uncertain significance rs886059004 GRCh37 Chromosome 4, 111538903: 111538905
15 PITX2 NM_153427.2(PITX2): c.*340A> G single nucleotide variant Likely benign rs551209662 GRCh38 Chromosome 4, 110617785: 110617785
16 PITX2 NM_153427.2(PITX2): c.*340A> G single nucleotide variant Likely benign rs551209662 GRCh37 Chromosome 4, 111538941: 111538941
17 PITX2 NM_153427.2(PITX2): c.*370G> C single nucleotide variant Uncertain significance rs886059005 GRCh38 Chromosome 4, 110617755: 110617755
18 PITX2 NM_153427.2(PITX2): c.*370G> C single nucleotide variant Uncertain significance rs886059005 GRCh37 Chromosome 4, 111538911: 111538911
19 PITX2 NM_153427.2(PITX2): c.*264A> C single nucleotide variant Uncertain significance rs886059006 GRCh38 Chromosome 4, 110617861: 110617861
20 PITX2 NM_153427.2(PITX2): c.*264A> C single nucleotide variant Uncertain significance rs886059006 GRCh37 Chromosome 4, 111539017: 111539017
21 PITX2 NM_153427.2(PITX2): c.253-11delA deletion Uncertain significance rs886059007 GRCh38 Chromosome 4, 110618699: 110618699
22 PITX2 NM_153427.2(PITX2): c.253-11delA deletion Uncertain significance rs886059007 GRCh37 Chromosome 4, 111539855: 111539855
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 GRCh38 Chromosome 4, 110617603: 110617603
26 PITX2 NM_153427.2(PITX2): c.*522T> C single nucleotide variant Uncertain significance rs188349821 GRCh37 Chromosome 4, 111538759: 111538759
27 PITX2 NM_153427.2(PITX2): c.*471G> A single nucleotide variant Likely benign rs75911264 GRCh38 Chromosome 4, 110617654: 110617654
28 PITX2 NM_153427.2(PITX2): c.*471G> A single nucleotide variant Likely benign rs75911264 GRCh37 Chromosome 4, 111538810: 111538810
29 PITX2 NM_153427.2(PITX2): c.*176A> T single nucleotide variant Likely benign rs567517676 GRCh38 Chromosome 4, 110617949: 110617949
30 PITX2 NM_153427.2(PITX2): c.*176A> T single nucleotide variant Likely benign rs567517676 GRCh37 Chromosome 4, 111539105: 111539105
31 PITX2 NM_153427.2(PITX2): c.*119T> A single nucleotide variant Uncertain significance rs765040142 GRCh38 Chromosome 4, 110618006: 110618006
32 PITX2 NM_153427.2(PITX2): c.*119T> A single nucleotide variant Uncertain significance rs765040142 GRCh37 Chromosome 4, 111539162: 111539162
33 PITX2 NM_153427.2(PITX2): c.703C> T (p.Leu235=) single nucleotide variant Likely benign rs139401187 GRCh38 Chromosome 4, 110618238: 110618238
34 PITX2 NM_153427.2(PITX2): c.703C> T (p.Leu235=) single nucleotide variant Likely benign rs139401187 GRCh37 Chromosome 4, 111539394: 111539394
35 PITX2 NM_153427.2(PITX2): c.65A> C (p.Gln22Pro) single nucleotide variant Likely benign rs201628949 GRCh38 Chromosome 4, 110621351: 110621351
36 PITX2 NM_153427.2(PITX2): c.65A> C (p.Gln22Pro) single nucleotide variant Likely benign rs201628949 GRCh37 Chromosome 4, 111542507: 111542507

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:

38
# 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 10.29 FOXC1 PITX2

GO Terms for Axenfeld-Rieger Syndrome

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 9.77 FOXC1 FOXP2 PAX6 POU1F1 PRDM5
2 negative regulation of cell proliferation GO:0008285 9.76 CYP1B1 GJA1 PAX6 POU1F1
3 positive regulation of gene expression GO:0010628 9.73 FOXC1 GJA1 PAX6 SH3PXD2B
4 heart development GO:0007507 9.71 FOXC1 GJA1 SH3PXD2B
5 collagen fibril organization GO:0030199 9.56 CYP1B1 FOXC1
6 transcription by RNA polymerase II GO:0006366 9.55 PAX6 POU1F1
7 lens development in camera-type eye GO:0002088 9.52 GJA1 PAX6
8 positive regulation of multicellular organism growth GO:0040018 9.51 POU1F1 SH3PXD2B
9 blood vessel morphogenesis GO:0048514 9.49 CYP1B1 GJA1
10 pituitary gland development GO:0021983 9.48 PAX6 POU1F1
11 embryonic heart tube development GO:0035050 9.4 FOXC1 GJA1
12 iris morphogenesis GO:0061072 9.32 PAX6 PITX2
13 lacrimal gland development GO:0032808 9.26 FOXC1 PAX6
14 somatotropin secreting cell differentiation GO:0060126 9.16 PITX2 POU1F1
15 eye development GO:0001654 9.13 FOXC1 PAX6 SH3PXD2B
16 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 transcription factor activity, RNA polymerase II-specific GO:0000981 9.85 FOXC1 FOXP2 PAX6 PITX2 POU1F1 PRDM5
2 DNA binding GO:0003677 9.8 FOXC1 FOXP2 PAX6 PITX2 POU1F1 PRDM5
3 DNA-binding transcription factor activity GO:0003700 9.72 FOXC1 FOXP2 PAX6 PITX2 POU1F1
4 transcription regulatory region DNA binding GO:0044212 9.61 FOXC1 PAX6 PRDM5
5 transcription factor binding GO:0008134 9.46 FOXC1 PAX6 PITX2 POU1F1
6 RNA polymerase II activating transcription factor binding GO:0001102 9.4 PITX2 POU1F1
7 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.35 FOXP2 PAX6 PITX2 POU1F1 PRDM5
8 sequence-specific DNA binding GO:0043565 9.1 FOXC1 FOXP2 PAX6 PITX2 POU1F1 PRDM5

Sources for Axenfeld-Rieger Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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