MCID: AXN010
MIFTS: 52

Axenfeld-Rieger Syndrome, Type 3 malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Fetal diseases

Aliases & Classifications for Axenfeld-Rieger Syndrome, Type 3

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

Name: Axenfeld-Rieger Syndrome, Type 3 50 23 12 66
Axenfeld-Rieger Syndrome 11 46 23 24 13 37 66
Rieger Syndrome 46 23 24 48 66
Axenfeld Anomaly 24 52 68 25
Rieger Anomaly 24 52 68 25
Axenfeld Syndrome 11 24 66
Rieg3 46 23 68
Axenfeld-Rieger Anomaly with or Without Cardiac Defects and/or Sensorineural Hearing Loss 46 68
Anterior Chamber Cleavage Syndrome 46 68
Axenfeld-Rieger Syndrome 3 68 25
Axenfeld-Rieger Anomaly 68 25
Rieger Syndrome Type 3 46 68
Iridogoniodysgenesis with Somatic Anomalies 46
Anterior Segment Mesenchymal Dysgenesis 68
 
Rieger Eye Malformation Sequence 66
Axenfeld-Rieger Syndrome Type 3 46
Rieger or Axenfeld Anomalies 50
Axenfeld and Rieger Anomaly 24
Goniodysgenesis Hypodontia 46
Rieger Syndrome, Type 3 23
Rgs - Rieger Syndrome 11
Hagedoom Syndrome 11
Anomaly, Rieger's 11
Rieger's Anomaly 11
Axrs 24
Axra 24
Ars 24

Characteristics:

Orphanet epidemiological data:

52
rieger anomaly:
Inheritance: Autosomal dominant; Age of onset: Neonatal; Age of death: normal life expectancy
axenfeld anomaly:
Inheritance: Autosomal dominant

HPO:

62
axenfeld-rieger syndrome, type 3:
Inheritance: autosomal dominant inheritance, heterogeneous


Classifications:



External Ids:

OMIM50 602482
Disease Ontology11 DOID:14686
ICD1028 Q13.81
SNOMED-CT60 47507006, 86628002
ICD10 via Orphanet29 Q13.8, Q15.0
UMLS via Orphanet67 C0266548

Summaries for Axenfeld-Rieger Syndrome, Type 3

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NIH Rare Diseases:46 Axenfeld-rieger syndrome is a group of eye disorders that affects the development of the eye. common eye symptoms include cornea defects, which is the clear covering on the front of the eye, and iris defects, which is the colored part of the eye. 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, which is a serious condition that increases pressure inside of the eye. this 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 is also associated with symptoms that 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 spelling mistakes (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. last updated: 1/3/2016

MalaCards based summary: Axenfeld-Rieger Syndrome, Type 3, also known as axenfeld-rieger syndrome, is related to tolosa-hunt syndrome and familial hyperaldosteronism, 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 is Heart Development. Affiliated tissues include eye, skin and heart, and related mouse phenotypes are muscle and vision/eye.

Disease Ontology:11 An autosomal dominant disease characterized by abnormalities of the front part of the eye, the anterior segment.

UniProtKB/Swiss-Prot:68 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.

Genetics Home Reference:24 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.

Description from OMIM:50 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 3491)
idRelated DiseaseScoreTop Affiliating Genes
1tolosa-hunt syndrome30.0HDAC9, OPTN
2familial hyperaldosteronism29.4CYP1B1, PITX2
3clonorchiasis29.2FOXC1, OPTN
4cerebral artery occlusion28.6OPTN, PAX6
5megacolon28.5HDAC9, OPTN, PAX6
6peters anomaly28.4CYP1B1, FOXC1, HDAC9, PAX6, PITX2
7familial mediterranean fever, ar12.1
8epidermolysis bullosa dystrophica, ar12.1
9hypophosphatemic rickets, ar12.0
10immunodeficiency 27a, mycobacteriosis, ar12.0
11renal tubular acidosis, distal, ar11.9
12emery-dreifuss muscular dystrophy 3, ar11.8
13brain small vessel disease with or without ocular anomalies11.7
14androgen insensitivity11.5
15iris dysplasia hypertelorism deafness11.5
16hyper-ige recurrent infection syndrome, autosomal recessive11.4
17renal tubular acidosis with deafness11.4
18anterior segment mesenchymal dysgenesis11.3
19myopathy, centronuclear, autosomal recessive11.3
20oculodentodigital dysplasia, autosomal recessive11.1
21epidermolysis bullosa, nonspecific, autosomal recessive11.1
22prostate cancer10.9
23colorectal cancer10.9
24renal tubular acidosis, proximal, with ocular abnormalities10.8
25epidermolysis bullosa simplex, sutosomal recessive 210.8
26al-raqad syndrome10.8
27epidermolysis bullosa simplex, recessive 110.8
28autosomal recessive non-syndromic intellectual disability10.8
29hypohidrotic ectodermal dysplasia autosomal recessive10.8
30ectopia pupillae10.8
31severe immunodeficiency, autosomal recessive, t-cell negative, b-cell negative, nk cell-positive10.8
32leukemia10.7
33breast cancer10.7
34hepatitis10.6
35obesity10.6
36lymphoma10.6
37arthritis10.6
38pancreatitis10.6
39rheumatoid arthritis10.6
40lung cancer10.5
41tongue squamous cell carcinoma10.5
42ring dermoid of cornea10.5FOXC1, PITX2
43melanoma10.5
44lupus erythematosus10.5
45adenocarcinoma10.5
46intracranial berry aneurysm10.5CYP1B1, OPTN
47asthma10.5
48schizophrenia10.5
49hiv-110.5
50atherosclerosis10.5

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 32)
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 hypertelorism occasional (7.5%) HP:0000316
9 telecanthus occasional (7.5%) HP:0000506
10 microdontia occasional (7.5%) HP:0000691
11 abnormality of the hypothalamus-pituitary axis occasional (7.5%) HP:0000864
12 cutis laxa occasional (7.5%) HP:0000973
13 frontal bossing occasional (7.5%) HP:0002007
14 depressed nasal bridge occasional (7.5%) HP:0005280
15 reduced number of teeth occasional (7.5%) HP:0009804
16 urogenital fistula occasional (7.5%) HP:0100589
17 displacement of the external urethral meatus occasional (7.5%) HP:0100627
18 malar flattening HP:0000272
19 hypertelorism HP:0000316
20 sensorineural hearing impairment HP:0000407
21 glaucoma HP:0000501
22 proptosis HP:0000520
23 posterior embryotoxon HP:0000627
24 hypodontia HP:0000668
25 microdontia HP:0000691
26 cerebellar vermis hypoplasia HP:0001320
27 atria septal defect HP:0001631
28 patent ductus arteriosus HP:0001643
29 hypoplasia of the iris HP:0007676
30 ectopia pupillae HP:0009918
31 concave nasal ridge HP:0011120
32 obsolete flat midface HP:0040199

Drugs & Therapeutics for Axenfeld-Rieger Syndrome, Type 3

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168

Search 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 Anomaly25
2 Rieger Syndrome25
3 Axenfeld-Rieger Syndrome Type 325
4 Axenfeld Anomaly25
5 Axenfeld-Rieger Syndrome23 PITX2
6 Axenfeld-Rieger Syndrome, Type 323 FOXC1

Anatomical Context for Axenfeld-Rieger Syndrome, Type 3

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

34
Eye, Skin, Heart, Pituitary, 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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.0COL25A1, FOXC1, HDAC9, PAX6, PITX2, SH3PXD2B
2MP:00053917.7CYP1B1, FOXC1, LGR4, PAX6, PITX2, SH3PXD2B

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:

68 (show all 18)
id Symbol AA change Variation ID SNP ID
1FOXC1p.Ile126MetVAR_007816rs104893958
2FOXC1p.Ser131LeuVAR_007817rs104893957
3FOXC1p.Ser82ThrVAR_007944rs104893953
4FOXC1p.Ile87MetVAR_007945rs104893954
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_058730rs121909338
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 pathwaysScoreTop Affiliating Genes
19.9FOXC1, PITX2

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

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1lacrimal gland developmentGO:003280810.3FOXC1, PAX6
2histone deacetylationGO:001657510.2HDAC9, PRDM5
3iris morphogenesisGO:006107210.2PAX6, PITX2
4collagen fibril organizationGO:003019910.2CYP1B1, FOXC1
5pituitary gland developmentGO:002198310.1PAX6, PITX2
6blood vessel developmentGO:00015689.9FOXC1, PAX6
7camera-type eye developmentGO:00430109.8FOXC1, PAX6, PITX2
8brain developmentGO:00074209.2FOXC1, PAX6, PITX2
9heart developmentGO:00075079.1FOXC1, HDAC9, PITX2, SH3PXD2B
10eye developmentGO:00016549.1FOXC1, MEIS2, PAX6, SH3PXD2B
11transcription from RNA polymerase II promoterGO:00063669.0FOXC1, MEIS2, PAX6, PITX2
12positive regulation of transcription, DNA-templatedGO:00458938.8FOXC1, LGR4, PAX6, PITX2
13negative regulation of transcription from RNA polymerase II promoterGO:00001228.5HDAC9, MEIS2, PAX6, PRDM5

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1repressing transcription factor bindingGO:007049110.1HDAC9, PRDM5
2RNA polymerase II transcription factor activity, sequence-specific DNA bindingGO:00009819.6FOXC1, PAX6, PITX2
3transcription regulatory region DNA bindingGO:00442129.3FOXC1, PAX6, PRDM5
4transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010779.3MEIS2, PAX6, PITX2
5RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:00009788.8MEIS2, PAX6, PITX2, PRDM5
6sequence-specific DNA bindingGO:00435658.3FOXC1, MEIS2, PAX6, PITX2, PRDM5
7transcription factor bindingGO:00081348.1FOXC1, HDAC9, MEIS2, PAX6, PITX2

Sources for Axenfeld-Rieger Syndrome, Type 3

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet