MCID: AXN010
MIFTS: 60

Axenfeld-Rieger Syndrome, Type 3 malady

Genetic diseases, Rare diseases, Eye diseases, Fetal diseases categories

Aliases & Classifications for Axenfeld-Rieger Syndrome, Type 3

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Sources:
67UniProtKB/Swiss-Prot, 49OMIM, 11diseasecard, 65UMLS, 10Disease Ontology, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 12DISEASES, 36MeSH, 47Novoseek, 24GTR, 51Orphanet, 59SNOMED-CT, 42NCIt, 29ICD9CM, 28ICD10 via Orphanet, 66UMLS via Orphanet, 34MedGen
See all sources

Aliases & Descriptions for Axenfeld-Rieger Syndrome, Type 3:

Name: Axenfeld-Rieger Syndrome, Type 3 49 11 65
Axenfeld-Rieger Syndrome 10 45 22 23 12 65 36
Rieger Syndrome 45 22 23 47 65
Axenfeld Anomaly 23 51 24 67
Rieger Anomaly 23 51 24 67
Axenfeld-Rieger Syndrome Type 3 45 22 24
Rieger Syndrome Type 3 45 22 67
Axenfeld Syndrome 10 23 65
Rieg3 45 22 67
Axenfeld-Rieger Anomaly with or Without Cardiac Defects and/or Sensorineural Hearing Loss 45 67
Anterior Chamber Cleavage Syndrome 45 67
Axenfeld and Rieger Anomaly 23 24
 
Iridogoniodysgenesis with Somatic Anomalies 45
Anterior Segment Mesenchymal Dysgenesis 67
Rieger or Axenfeld Anomalies 49
Goniodysgenesis Hypodontia 45
Axenfeld-Rieger Syndrome 3 67
Axenfeld-Rieger Anomaly 67
Rgs - Rieger Syndrome 10
Anomaly, Rieger's 10
Rieger's Anomaly 10
Axrs 23
Axra 23
Ars 23


Classifications:



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OMIM49 602482
Disease Ontology10 DOID:14686
NCIt42 C75015
ICD9CM29 743.44
Orphanet51 91483, 98978
ICD10 via Orphanet28 Q13.8
UMLS via Orphanet66 C0266548

Summaries for Axenfeld-Rieger Syndrome, Type 3

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NIH Rare Diseases:45 Axenfeld-rieger syndrome refers to a spectrum of developmental eye disorders. common eye symptoms include cornea defects, iris defects, and glaucoma. about 50% of affected individuals become blind from glaucoma. other associated developmental defects commonly involve the teeth and facial bones. . click here to view a diagram of the eye. there are three types of axenfeld-rieger syndrome, which are distinguished by their genetic cause. axenfeld-rieger syndrome type 1 is caused by mutations in the pitx2 gene and axenfeld-rieger syndrome type 3 is caused by mutations in the foxc1 gene. the gene that causes axenfeld-rieger syndrome type 2 has not yet been identified, but it is located on chromosome 13. axenfeld-rieger syndrome has an autosomal dominant pattern of inheritance. last updated: 4/11/2011

MalaCards based summary: Axenfeld-Rieger Syndrome, Type 3, also known as axenfeld-rieger syndrome, is related to corneal neovascularization and peters anomaly, and has symptoms including abnormality of the anterior chamber, posterior embryotoxon and aplasia/hypoplasia of the iris. An important gene associated with Axenfeld-Rieger Syndrome, Type 3 is FOXC1 (Forkhead Box C1), and among its related pathways are Heart Development and Transcriptional Regulatory Network in Embryonic Stem Cell. Affiliated tissues include eye, skin and bone, and related mouse phenotypes are pigmentation and respiratory system.

Disease Ontology:10 An autosomal dominant disease characterized by abnormalities of the front part of the eye, the anterior segment.

Genetics Home Reference:23 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.

UniProtKB/Swiss-Prot:67 Axenfeld-Rieger syndrome 3: An autosomal dominant disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals. Features include posterior corneal embryotoxon, prominent Schwalbe line and iris adhesion to the Schwalbe line, hypertelorism, hypodontia, sensorineural deafness, redundant periumbilical skin, and cardiovascular defects such as patent ductus arteriosus and atrial septal defect. When associated with tooth anomalies, the disorder is known as Rieger syndrome.

Description from OMIM:49 602482

Related Diseases for Axenfeld-Rieger Syndrome, Type 3

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Diseases in the Axenfeld-Rieger Syndrome, Type 3 family:

Axenfeld-Rieger Syndrome, Type 1

Diseases related to Axenfeld-Rieger Syndrome, Type 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 6031)
idRelated DiseaseScoreTop Affiliating Genes
1corneal neovascularization30.6CYP1B1, OPTN
2peters anomaly30.5CYP1B1, FOXC1, HDAC9, PAX6, PITX2
3aniridia30.2CYP1B1, FOXC1, LGR4, PAX6, PITX2
4corneal dystrophy30.0CYP1B1, PAX6, PITX2
5primary bacterial infectious disease30.0CYP1B1, OPTN
6waldenstrom macroglobulinemia29.9LGR4, PAX6
7hyperaldosteronism29.8CYP1B1, FOXC1, HDAC9, OPTN
8iron metabolism disease29.6FOXC1, HDAC9, OPTN, PAX6, PITX2
9amino acid metabolic disorder29.5HDAC9, OPTN, PAX6
10primary familial brain calcification29.4CYP1B1, FOXC1
11gynecomastia29.4HDAC9, PAX6
12primary pigmented nodular adrenocortical disease28.9FOXC1, FOXF2, HDAC9, PAX6, PITX2
13breast cancer10.9
14leukemia10.9
15prostatitis10.8
16hepatitis10.8
17obesity10.8
18neuronitis10.8
19prostate cancer10.8
20arthritis10.7
21lung cancer10.7
22pancreatitis10.7
23rheumatoid arthritis10.7
24colorectal cancer10.7
25thyroiditis10.7
26adenocarcinoma10.7
27melanoma10.6
28hiv-110.6
29myeloid leukemia10.6
30asthma10.6
31cerebritis10.6
32hepatocellular carcinoma10.6
33artery disease10.6
34atherosclerosis10.6
35hepatitis c10.6
36foxe3-related anterior segment mesenchymal dysgenesis10.6
37pitx3-related anterior segment mesenchymal dysgenesis10.6
38familial ocular anterior segment mesenchymal dysgenesis10.6
39schizophrenia10.6
40b-cell lymphomas10.6
41coronary artery disease10.6
42lupus erythematosus10.6
43ovarian cancer10.6
44myeloma10.5
45cervicitis10.5
46systemic lupus erythematosus10.5
47brain small vessel disease with or without ocular anomalies10.5
48gastric cancer10.5
49myocardial infarction10.5
50dermatitis10.5

Graphical network of the top 20 diseases related to Axenfeld-Rieger Syndrome, Type 3:



Diseases related to axenfeld-rieger syndrome, type 3

Symptoms for Axenfeld-Rieger Syndrome, Type 3

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Symptoms by clinical synopsis from OMIM:

602482

Clinical features from OMIM:

602482

HPO human phenotypes related to Axenfeld-Rieger Syndrome, Type 3:

(show all 35)
id Description Frequency HPO Source Accession
1 abnormality of the anterior chamber hallmark (90%) HP:0000593
2 posterior embryotoxon hallmark (90%) HP:0000627
3 aplasia/hypoplasia of the iris hallmark (90%) HP:0008053
4 everted lower lip vermilion typical (50%) HP:0000232
5 malar flattening typical (50%) HP:0000272
6 hearing impairment typical (50%) HP:0000365
7 glaucoma typical (50%) HP:0000501
8 malformation of the heart and great vessels typical (50%) HP:0002564
9 hypertelorism occasional (7.5%) HP:0000316
10 telecanthus occasional (7.5%) HP:0000506
11 microdontia occasional (7.5%) HP:0000691
12 abnormality of the hypothalamus-pituitary axis occasional (7.5%) HP:0000864
13 cutis laxa occasional (7.5%) HP:0000973
14 frontal bossing occasional (7.5%) HP:0002007
15 depressed nasal bridge occasional (7.5%) HP:0005280
16 reduced number of teeth occasional (7.5%) HP:0009804
17 urogenital fistula occasional (7.5%) HP:0100589
18 displacement of the external urethral meatus occasional (7.5%) HP:0100627
19 autosomal dominant inheritance HP:0000006
20 malar flattening HP:0000272
21 hypertelorism HP:0000316
22 sensorineural hearing impairment HP:0000407
23 glaucoma HP:0000501
24 proptosis HP:0000520
25 posterior embryotoxon HP:0000627
26 hypodontia HP:0000668
27 microdontia HP:0000691
28 cerebellar vermis hypoplasia HP:0001320
29 heterogeneous HP:0001425
30 atria septal defect HP:0001631
31 patent ductus arteriosus HP:0001643
32 hypoplasia of the iris HP:0007676
33 ectopia pupillae HP:0009918
34 concave nasal ridge HP:0011120
35 flat midface HP:0040199

Drugs & Therapeutics for Axenfeld-Rieger Syndrome, Type 3

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Axenfeld-Rieger Syndrome, Type 3


Cochrane evidence based reviews: Axenfeld-Rieger syndrome

Genetic Tests for Axenfeld-Rieger Syndrome, Type 3

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Genetic tests related to Axenfeld-Rieger Syndrome, Type 3:

id Genetic test Affiliating Genes
1 Axenfeld-Rieger Syndrome22 PITX2
2 Axenfeld-Rieger Syndrome, Type 322 FOXC1
3 Axenfeld-Rieger Anomaly24
4 Rieger Syndrome24
5 Axenfeld-Rieger Syndrome Type 324
6 Axenfeld Anomaly24

Anatomical Context for Axenfeld-Rieger Syndrome, Type 3

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MalaCards organs/tissues related to Axenfeld-Rieger Syndrome, Type 3:

33
Eye, Skin, Bone, Pituitary, Heart, Hypothalamus

Animal Models for Axenfeld-Rieger Syndrome, Type 3 or affiliated genes

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MGI Mouse Phenotypes related to Axenfeld-Rieger Syndrome, Type 3:

38 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.8COL1A1, FOXC1, PAX6, PITX2
2MP:00053888.7COL1A1, FOXC1, FOXF2, PAX6, PITX2
3MP:00030128.7COL1A1, FOXF2, LGR4, PITX2, PRSS12
4MP:00053908.6COL1A1, FOXC1, FOXF2, PAX6, PITX2, SH3PXD2B
5MP:00053828.6COL1A1, FOXC1, FOXF2, PAX6, PITX2, SH3PXD2B
6MP:00053698.6COL1A1, FOXC1, HDAC9, PAX6, PITX2, SH3PXD2B
7MP:00053818.4COL1A1, FOXC1, FOXF2, LGR4, PAX6, PITX2
8MP:00053898.1COL1A1, FOXC1, LGR4, PAX6, PITX2, SH3PXD2B
9MP:00053857.9COL1A1, FOXC1, HDAC9, LGR4, PAX6, PITX2
10MP:00053917.4COL1A1, CYP1B1, FOXC1, FOXF2, LGR4, PAX6
11MP:00036317.4COL1A1, FOXC1, FOXF2, LGR4, PAX6, PITX2
12MP:00107687.3COL1A1, FOXC1, FOXF2, HDAC9, LGR4, PAX6
13MP:00053787.2COL1A1, FOXC1, FOXF2, HDAC9, LGR4, PAX6

Publications for Axenfeld-Rieger Syndrome, Type 3

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Variations for Axenfeld-Rieger Syndrome, Type 3

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UniProtKB/Swiss-Prot genetic disease variations for Axenfeld-Rieger Syndrome, Type 3:

67 (show all 18)
id Symbol AA change Variation ID SNP ID
1FOXC1p.Ile126MetVAR_007816
2FOXC1p.Ser131LeuVAR_007817
3FOXC1p.Ser82ThrVAR_007944
4FOXC1p.Ile87MetVAR_007945
5FOXC1p.Met161LysVAR_018150
6FOXC1p.Pro79LeuVAR_058722
7FOXC1p.Pro79ArgVAR_058723
8FOXC1p.Pro79ThrVAR_058724
9FOXC1p.Leu86PheVAR_058725
10FOXC1p.Ile91SerVAR_058726
11FOXC1p.Ile91ThrVAR_058727
12FOXC1p.Tyr115SerVAR_058728
13FOXC1p.Arg127HisVAR_058729
14FOXC1p.Leu130PheVAR_058730
15FOXC1p.Gly149AspVAR_058731
16FOXC1p.Met161ValVAR_058732
17FOXC1p.Gly165ArgVAR_058733
18FOXC1p.Arg169ProVAR_058734

Clinvar genetic disease variations for Axenfeld-Rieger Syndrome, Type 3:

5
id Gene Variation Type Significance SNP ID Assembly Location
1FOXC1FOXC1, 11-BP DELdeletionPathogenic
2FOXC1NM_001453.2(FOXC1): c.392C> T (p.Ser131Leu)single nucleotide variantPathogenicrs104893957GRCh37Chr 6, 1611072: 1611072
3FOXC1NM_001453.2(FOXC1): c.335T> C (p.Phe112Ser)single nucleotide variantPathogenicrs104893951GRCh37Chr 6, 1611015: 1611015
4FOXC1NM_001453.2(FOXC1): c.67C> T (p.Gln23Ter)single nucleotide variantPathogenicrs104893952GRCh37Chr 6, 1610747: 1610747
5FOXC1NM_001453.2(FOXC1): c.245G> C (p.Ser82Thr)single nucleotide variantPathogenicrs104893953GRCh37Chr 6, 1610925: 1610925
6FOXC1NM_001453.2(FOXC1): c.388C> T (p.Leu130Phe)single nucleotide variantPathogenicrs121909338GRCh37Chr 6, 1611068: 1611068
7FOXC1NM_001453.2(FOXC1): c.358C> T (p.Gln120Ter)single nucleotide variantPathogenicrs121909339GRCh37Chr 6, 1611038: 1611038

Expression for genes affiliated with Axenfeld-Rieger Syndrome, Type 3

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Search GEO for disease gene expression data for Axenfeld-Rieger Syndrome, Type 3.

Pathways for genes affiliated with Axenfeld-Rieger Syndrome, Type 3

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Pathways related to Axenfeld-Rieger Syndrome, Type 3 according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9FOXC1, PITX2
29.9FOXC1, PAX6

GO Terms for genes affiliated with Axenfeld-Rieger Syndrome, Type 3

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Cellular components related to Axenfeld-Rieger Syndrome, Type 3 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transcription factor complexGO:00056679.3FOXF2, HDAC9, PITX2

Biological processes related to Axenfeld-Rieger Syndrome, Type 3 according to GeneCards Suite gene sharing:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1iris morphogenesisGO:006107210.6PAX6, PITX2
2lacrimal gland developmentGO:003280810.5FOXC1, PAX6
3embryonic camera-type eye morphogenesisGO:004859610.2FOXF2, PAX6
4camera-type eye developmentGO:004301010.0FOXC1, PAX6, PITX2
5eye developmentGO:00016549.8FOXC1, PAX6, SH3PXD2B
6visual perceptionGO:00076019.7COL1A1, CYP1B1, PAX6
7blood vessel developmentGO:00015689.7COL1A1, FOXC1, PAX6
8collagen fibril organizationGO:00301999.6COL1A1, CYP1B1, FOXC1
9brain developmentGO:00074209.5FOXC1, PAX6, PITX2
10skeletal system developmentGO:00015019.5COL1A1, FOXC1, SH3PXD2B
11heart developmentGO:00075079.3FOXC1, HDAC9, SH3PXD2B
12positive regulation of transcription, DNA-templatedGO:00458938.7COL1A1, FOXC1, FOXF2, LGR4, PAX6
13positive regulation of transcription from RNA polymerase II promoterGO:00459448.3FOXC1, FOXF2, MEIS2, PAX6, PITX2
14transcription from RNA polymerase II promoterGO:00063668.0FOXC1, FOXF2, MEIS2, PAX6, PITX2

Molecular functions related to Axenfeld-Rieger Syndrome, Type 3 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010779.5MEIS2, PAX6, PITX2
2transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific bindingGO:00012289.3FOXC1, FOXF2, PAX6
3sequence-specific DNA bindingGO:00435658.3FOXC1, FOXF2, MEIS2, PAX6, PITX2
4transcription factor activity, sequence-specific DNA bindingGO:00037008.0FOXC1, FOXF2, MEIS2, PAX6, PITX2
5transcription factor bindingGO:00081347.9FOXC1, FOXF2, HDAC9, MEIS2, PAX6, PITX2

Sources for Axenfeld-Rieger Syndrome, Type 3

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet