ARS
MCID: AXN002
MIFTS: 58

Axenfeld-Rieger Syndrome (ARS)

Categories: Endocrine diseases, 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 52 25 58 36 6 43 15 39 71
Rieger Syndrome 52 25 58 29 54 6 71
Axenfeld Syndrome 12 74 25 58 71
Axenfeld Anomaly 25 58
Rieger Anomaly 25 58
Iridogoniodysgenesis with Somatic Anomalies 52
Rieger Eye Malformation Sequence 71
Axenfeld and Rieger Anomaly 25
Goniodysgenesis Hypodontia 52
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:

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
MeSH 43 C535679
NCIt 49 C131001
SNOMED-CT 67 47507006 86628002
ICD10 32 Q13.81
MESH via Orphanet 44 C535679
ICD10 via Orphanet 33 Q13.8 Q15.0
UMLS via Orphanet 72 C0265341 C0266548 C3495488
UMLS 71 C0265341 C1280768 C3495488 more

Summaries for Axenfeld-Rieger Syndrome

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. 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 3. 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 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.

NIH Rare Diseases : 52 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 : 74 Axenfeld syndrome is a rare autosomal dominant disorder, which affects the development of the teeth,... 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 8891)
# Related Disease Score Top Affiliating Genes
1 axenfeld-rieger syndrome, type 2 35.4 RIEG2 PITX2 FOXC1
2 axenfeld-rieger syndrome, type 3 35.2 PITX2 PAX6 FOXE3 FOXC1 CYP1B1
3 axenfeld-rieger syndrome, type 1 34.7 PRDM5 PITX3 PITX2 PITX1 PAX6 FOXE3
4 anterior segment dysgenesis 34.0 PITX3 PITX2 PAX6 FOXE3 FOXC1 CYP1B1
5 hypopituitarism 32.0 POU1F1 PITX2 PAX6
6 isolated growth hormone deficiency 31.9 POU1F1 PITX1 PAX6
7 microphthalmia 31.9 PITX3 PITX2 PAX6 GJA1 FOXE3
8 septooptic dysplasia 31.8 POU1F1 PITX2 PITX1 PAX6
9 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 31.8 PITX2 PAX6 FOXC1
10 glaucoma 1, open angle, a 31.7 MYOC CYP1B1
11 early-onset glaucoma 31.7 PITX2 MYOC CYP1B1
12 distichiasis 31.6 FOXP2 FOXC1
13 intraocular pressure quantitative trait locus 31.6 PITX2 PAX6 MYOC LMX1B GJA1 FOXC1
14 anterior segment dysgenesis 5 31.5 PAX6 CYP1B1
15 atrial heart septal defect 31.4 PITX2 GJA1 FOXC1
16 glaucoma-related pigment dispersion syndrome 31.4 MYOC LMX1B CYP1B1
17 anterior segment dysgenesis 2 31.3 PITX3 FOXE3
18 glaucoma, primary open angle 31.3 MYOC LTBP3 LTBP2 FOXC1 CYP1B1
19 aniridia 1 31.1 PITX3 PITX2 PAX6 MYOC LTBP2 FOXE3
20 amblyopia 31.1 PITX3 PAX6 FOXE3
21 persistent hyperplastic primary vitreous 31.0 PRDM5 PITX2 PAX6 FOXE3 FOXC1
22 tooth agenesis 31.0 PITX2 PAX6 LTBP3 LTBP2 FOXC1 DLX2
23 megalocornea 31.0 PITX2 MYOC LTBP3 LTBP2 FOXC1 CYP1B1
24 sclerocornea 30.9 PITX2 PAX6 FOXE3 FOXC1 B3GLCT
25 juvenile glaucoma 30.9 PITX2 PAX6 MYOC LTBP3 LTBP2 FOXE3
26 open-angle glaucoma 30.8 MYOC LTBP2 LMX1B FOXC1 CYP1B1
27 coloboma of macula 30.8 PITX3 PITX2 PAX6 FOXE3 FOXC1 CYP1B1
28 eye disease 30.8 PITX2 PAX6 MYOC FOXC1 CYP1B1
29 cataract 30.7 PITX3 PITX2 PAX6 GJA1 FOXE3 FOXC1
30 primary congenital glaucoma 30.7 PITX2 PAX6 MYOC LTBP3 LTBP2 FOXE3
31 peters-plus syndrome 30.6 PITX3 PITX2 PAX6 MYOC LTBP3 LTBP2
32 anterior segment dysgenesis 4 30.6 PITX2 FOXC1
33 coloboma, ocular, autosomal dominant 30.5 PAX6 CYP1B1
34 corneal edema 29.9 MYOC LTBP2 CYP1B1
35 corneal disease 29.9 PAX6 FOXE3 FOXC1
36 congenital hypopituitarism 29.8 POU1F1 PITX2 PAX6
37 intestinal atresia 29.7 PITX2 PAX6 FOXC1
38 colobomatous microphthalmia 29.5 PITX3 PITX2 PAX6
39 cornea plana 29.3 TTF2 PITX2 FOXC1
40 steroid-induced glaucoma 29.0 MYOC CYP1B1
41 glaucoma 3, primary congenital, a 28.7 PITX2 PAX6 MYOC LTBP3 LTBP2 FOXE3
42 androgen insensitivity syndrome 11.9
43 immunodeficiency 27a 11.9
44 brain small vessel disease 1 with or without ocular anomalies 11.9
45 familial mediterranean fever 11.8
46 renal tubular acidosis, distal, with progressive nerve deafness 11.7
47 myopathy, centronuclear, 2 11.7
48 hypophosphatemic rickets, autosomal recessive, 1 11.7
49 al-raqad syndrome 11.7
50 epidermolysis bullosa, nonspecific, autosomal recessive 11.6

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 midface retrusion 58 31 frequent (33%) Frequent (79-30%) HP:0011800
6 everted lower lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0000232
7 glaucoma 58 31 frequent (33%) Frequent (79-30%) HP:0000501
8 abnormality of cardiovascular system morphology 31 frequent (33%) HP:0030680
9 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
10 depressed nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0005280
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 telecanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000506
16 hypospadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0000047
17 hypoplasia of the maxilla 58 31 occasional (7.5%) Occasional (29-5%) HP:0000327
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 21)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.7 POU1F1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.7 FOXP2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-135 9.7 POU1F1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.7 POU1F1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.7 POU1F1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.7 GJA1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-158 9.7 GJA1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.7 PRDM5
9 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.7 FOXP2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.7 POU1F1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-191 9.7 POU1F1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-211 9.7 FOXP2 GJA1 POU1F1 PRDM5
13 Increased shRNA abundance (Z-score > 2) GR00366-A-215 9.7 PRDM5
14 Increased shRNA abundance (Z-score > 2) GR00366-A-26 9.7 GJA1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.7 POU1F1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.7 FOXP2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.7 GJA1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.7 FOXP2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.7 POU1F1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-97 9.7 PRDM5
21 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.7 POU1F1

MGI Mouse Phenotypes related to Axenfeld-Rieger Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.13 DLX2 FOXC1 GJA1 LMX1B LTBP2 PAX6
2 craniofacial MP:0005382 10.06 DLX2 FOXC1 GJA1 LMX1B LTBP3 PAX6
3 muscle MP:0005369 9.87 DLX2 FOXC1 GJA1 LMX1B PAX6 PITX1
4 hearing/vestibular/ear MP:0005377 9.85 DLX2 GJA1 PAX6 PITX1 POU1F1 PRDM5
5 respiratory system MP:0005388 9.76 DLX2 FOXC1 GJA1 LTBP2 LTBP3 PAX6
6 skeleton MP:0005390 9.73 DKK2 DLX2 FOXC1 GJA1 LMX1B LTBP3
7 pigmentation MP:0001186 9.65 FOXC1 PAX6 PITX2 PITX3 POU1F1
8 vision/eye MP:0005391 9.4 CYP1B1 DKK2 FOXC1 GJA1 LMX1B LTBP2

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 Anomalies of the Anterior Chamber, Angle, Iris, Cornea and Lens With or Without Glaucoma or Ocular Hypertension Completed NCT00001161

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

Anatomical Context for Axenfeld-Rieger Syndrome

MalaCards organs/tissues related to Axenfeld-Rieger Syndrome:

40
Eye, Skin, Heart, Bone, Brain, Thyroid, Breast

Publications for Axenfeld-Rieger Syndrome

Articles related to Axenfeld-Rieger Syndrome:

(show top 50) (show all 307)
# Title Authors PMID Year
1
Whole exome sequencing identifies a heterozygous missense variant in the PRDM5 gene in a family with Axenfeld-Rieger syndrome. 61 6
26489929 2016
2
FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation. 61 6
19668217 2009
3
Novel expression and transcriptional regulation of FoxJ1 during oro-facial morphogenesis. 61 6
18723525 2008
4
A novel mutation in the FOXC1 gene in a family with Axenfeld-Rieger syndrome and Peters' anomaly. 61 6
18498376 2008
5
Analyses of a novel L130F missense mutation in FOXC1. 61 6
17210863 2007
6
Dominant negative dimerization of a mutant homeodomain protein in Axenfeld-Rieger syndrome. 61 6
12612071 2003
7
A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene. 61 6
12614756 2003
8
Ocular developmental abnormalities and glaucoma associated with interstitial 6p25 duplications and deletions. 61 6
12036988 2002
9
Functional analyses of two newly identified PITX2 mutants reveal a novel molecular mechanism for Axenfeld-Rieger syndrome. 61 6
11487566 2001
10
Identification of a dominant negative homeodomain mutation in Rieger syndrome. 61 6
11301317 2001
11
Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25. 61 6
10713890 2000
12
The molecular basis of Rieger syndrome. Analysis of Pitx2 homeodomain protein activities. 61 6
9685346 1998
13
Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome. 61 6
9618168 1998
14
Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene. 61 6
9437321 1998
15
Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome. 61 6
8944018 1996
16
Autosomal-dominant iridogoniodysgenesis and Axenfeld-Rieger syndrome are genetically distinct. 61 6
8942889 1996
17
Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25). 61 6
7581385 1995
18
Characterization of a novel FOXC1 mutation, P297S, identified in two individuals with anterior segment dysgenesis. 6
19793056 2009
19
A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye. 6
11170889 2001
20
Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma. 6
11007653 2000
21
Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly. 6
9792859 1998
22
The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25. 6
9620769 1998
23
Autosomal dominant Axenfeld-Rieger anomaly maps to 6p25. 6
9326342 1997
24
Aniridia and Axenfeld-Rieger Syndrome: Clinical presentations, molecular genetics and current/emerging therapies. 61
31560925 2019
25
Rieger Syndrome: Rehabilitation With Dental Implants. 61
31490031 2019
26
Novel PITX2 mutations identified in Axenfeld-Rieger syndrome and the pattern of PITX2-related tooth agenesis. 61
31529555 2019
27
Repeat keratoplasty in failed Descemet stripping automated endothelial keratoplasty. 61
31546486 2019
28
Anterior transposition of inferior oblique for inferior rectus muscle aplasia. 61
31942437 2019
29
Ring chromosome 6 in a child with anterior segment dysgenesis and review of its overlap with other FOXC1 deletion phenotypes. 61
30225942 2019
30
A novel mutation of FOXC1 in a Chinese family with Axenfeld-Rieger syndrome. 61
31410177 2019
31
Axenfeld-Rieger syndrome as rare cause of umbilical abnormality. 61
30255586 2019
32
Progressive High Hypermetropic Shift as a Refractive Surprise Following Glaucoma Filtration Surgery in a Phakic Child With Early-Onset Childhood Glaucoma Associated With Axenfeld-Rieger Anomaly. 61
31135590 2019
33
Treatment of chronic and extreme ocular hypotension following glaucoma surgery with intraocular platelet-rich plasma: A case report. 61
30295074 2019
34
Unexpected phenotype in a patient with two chromosomal deletions involving 6pter and 22q11. 61
30885456 2019
35
Improvement of Open Bite and Stomatognathic Function in an Axenfeld- Rieger Syndrome Patient by Orthodontic Sectional Arch Mechanics: Clinical Considerations and the Risk of Orthodontic Tooth Movement. 61
31235974 2019
36
A novel frameshift mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome using targeted exome sequencing. 61
31185933 2019
37
Sterile keratitis after uneventful corneal collagen cross-linking in a patient with Axenfeld-Rieger syndrome. 61
29594793 2019
38
Prevalence of FOXC1 Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma. 61
30653210 2019
39
Axenfeld-Rieger syndrome: A case report. 61
30904290 2019
40
Loss of foxc1 in zebrafish reduces optic nerve size and cell number in the retinal ganglion cell layer. 61
30684501 2019
41
The Diverse Consequences of FOXC1 Deregulation in Cancer. 61
30764547 2019
42
Corneal crosslinking in a case with Axenfeld-Rieger syndrome and unilateral pellucid marginal degeneration. 61
30729234 2019
43
Novel PITX2 Mutations including a Mutation Causing an Unusual Ophthalmic Phenotype of Axenfeld-Rieger Syndrome. 61
31341655 2019
44
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. 61
30514661 2018
45
Mutation Survey of Candidate Genes and Genotype-Phenotype Analysis in 20 Southeastern Chinese Patients with Axenfeld-Rieger Syndrome. 61
29939776 2018
46
FoxO6 regulates Hippo signaling and growth of the craniofacial complex. 61
30286078 2018
47
A novel 4q25 microdeletion encompassing PITX2 associated with Rieger syndrome. 61
29774977 2018
48
Genetic linkage between altered tooth and eye development in lens-ablated Astyanax mexicanus. 61
30017604 2018
49
Axenfeld-Rieger syndrome. 61
28972279 2018
50
Axenfeld-Rieger syndrome. 61
29793789 2018

Variations for Axenfeld-Rieger Syndrome

ClinVar genetic disease variations for Axenfeld-Rieger Syndrome:

6 (show all 18) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PITX2 NM_000325.6(PITX2):c.639A>T (p.Ser213=)SNV Conflicting interpretations of pathogenicity 283383 rs141176394 4:111539617-111539617 4:110618461-110618461
2 PITX2 NM_000325.6(PITX2):c.*572T>CSNV Uncertain significance 347289 rs886059003 4:111538709-111538709 4:110617553-110617553
3 PITX2 NM_000325.6(PITX2):c.*373_*375GTT[1]short repeat Uncertain significance 347292 rs886059004 4:111538903-111538905 4:110617747-110617749
4 PITX2 NM_000325.6(PITX2):c.*370G>CSNV Uncertain significance 347293 rs886059005 4:111538911-111538911 4:110617755-110617755
5 PITX2 NM_000325.6(PITX2):c.*264A>CSNV Uncertain significance 347295 rs886059006 4:111539017-111539017 4:110617861-110617861
6 PITX2 NM_000325.6(PITX2):c.412-11deldeletion Uncertain significance 347299 rs886059007 4:111539855-111539855 4:110618699-110618699
7 PITX2 NM_000325.6(PITX2):c.*611A>GSNV Uncertain significance 347288 rs886059002 4:111538670-111538670 4:110617514-110617514
8 PITX2 NM_000325.6(PITX2):c.*522T>CSNV Uncertain significance 347290 rs188349821 4:111538759-111538759 4:110617603-110617603
9 PITX2 NM_000325.6(PITX2):c.*119T>ASNV Uncertain significance 347297 rs765040142 4:111539162-111539162 4:110618006-110618006
10 PITX2 NM_000325.6(PITX2):c.862C>T (p.Leu288=)SNV Likely benign 347298 rs139401187 4:111539394-111539394 4:110618238-110618238
11 PITX2 NM_000325.6(PITX2):c.224A>C (p.Gln75Pro)SNV Likely benign 347300 rs201628949 4:111542507-111542507 4:110621351-110621351
12 PITX2 NM_000325.6(PITX2):c.*471G>ASNV Likely benign 347291 rs75911264 4:111538810-111538810 4:110617654-110617654
13 PITX2 NM_000325.6(PITX2):c.*176A>TSNV Likely benign 347296 rs567517676 4:111539105-111539105 4:110617949-110617949
14 PITX2 NM_000325.6(PITX2):c.*340A>GSNV Likely benign 347294 rs551209662 4:111538941-111538941 4:110617785-110617785
15 PITX2 NM_000325.6(PITX2):c.819G>A (p.Pro273=)SNV Benign/Likely benign 167472 rs148191851 4:111539437-111539437 4:110618281-110618281
16 PITX2 NM_000325.6(PITX2):c.562G>A (p.Ala188Thr)SNV Benign/Likely benign 197884 rs77144743 4:111539694-111539694 4:110618538-110618538
17 PITX2 NM_000325.6(PITX2):c.618T>G (p.Ser206=)SNV Benign/Likely benign 262718 rs35946364 4:111539638-111539638 4:110618482-110618482
18 PITX2 NM_000325.6(PITX2):c.*454C>TSNV Benign 183253 rs6533526 4:111538827-111538827 4:110617671-110617671

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

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 nuclear chromatin GO:0000790 9.32 POU1F1 PITX3 PITX2 PITX1 PAX6 LMX1B

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.07 POU1F1 PITX2 PITX1 PAX6 LMX1B FOXC1
2 regulation of transcription by RNA polymerase II GO:0006357 10.03 PITX3 PITX2 PAX6 FOXE3 FOXC1 DLX2
3 negative regulation of transcription by RNA polymerase II GO:0000122 10.02 PRDM5 POU1F1 PAX6 FOXP2 FOXC1 DLX2
4 multicellular organism development GO:0007275 9.97 PITX3 PITX2 PITX1 PAX6 LMX1B FOXC1
5 regulation of transcription, DNA-templated GO:0006355 9.96 POU1F1 PITX3 PITX2 PITX1 PAX6 LMX1B
6 lens development in camera-type eye GO:0002088 9.65 PITX3 PAX6 FOXE3
7 eye development GO:0001654 9.61 PAX6 FOXE3 FOXC1
8 dopaminergic neuron differentiation GO:0071542 9.58 PITX3 LMX1B
9 pituitary gland development GO:0021983 9.58 POU1F1 PITX1 PAX6
10 bone remodeling GO:0046849 9.57 LTBP3 GJA1
11 cornea development in camera-type eye GO:0061303 9.54 PAX6 FOXE3
12 positive regulation of core promoter binding GO:1904798 9.51 PAX6 FOXC1
13 lacrimal gland development GO:0032808 9.49 PAX6 FOXC1
14 somatotropin secreting cell differentiation GO:0060126 9.46 POU1F1 PITX2
15 anatomical structure morphogenesis GO:0009653 9.35 PITX3 PITX2 PITX1 FOXE3 FOXC1
16 iris morphogenesis GO:0061072 9.33 PITX2 PAX6 FOXE3
17 trabecular meshwork development GO:0002930 9.32 FOXE3 CYP1B1
18 camera-type eye development GO:0043010 9.02 PITX2 PAX6 FOXP2 FOXE3 FOXC1

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 10.1 TTF2 PRDM5 POU1F1 PITX3 PITX2 PITX1
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.9 PRDM5 POU1F1 PITX3 PITX2 PITX1 PAX6
3 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.86 PRDM5 POU1F1 PITX3 PITX2 PITX1 PAX6
4 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.8 POU1F1 PITX1 PAX6 FOXC1 DLX2
5 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.73 PRDM5 LMX1B FOXC1 DLX2
6 DNA-binding transcription factor activity GO:0003700 9.7 PRDM5 POU1F1 PITX3 PITX2 PITX1 PAX6
7 RNA polymerase II transcription factor binding GO:0001085 9.67 POU1F1 PITX3 PITX2 PITX1
8 sequence-specific DNA binding GO:0043565 9.36 PRDM5 POU1F1 PITX3 PITX2 PITX1 PAX6

Sources for Axenfeld-Rieger Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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