MCID: AXN010
MIFTS: 57

Axenfeld-Rieger Syndrome, Type 3 malady

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

Summaries for Axenfeld-Rieger Syndrome, Type 3

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NIH Rare Diseases:43 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 peters anomaly and aniridia, 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, bone and heart, and related mouse phenotypes are pigmentation and limbs/digits/tail.

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.

Description from OMIM:47 602482

Aliases & Classifications for Axenfeld-Rieger Syndrome, Type 3

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Sources:
47OMIM, 11diseasecard, 10Disease Ontology, 43NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 12DISEASES, 45Novoseek, 24GTR, 49Orphanet, 62UMLS, 57SNOMED-CT, 40NCIt, 29ICD9CM, 35MeSH, 28ICD10 via Orphanet, 63UMLS via Orphanet
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Axenfeld-Rieger Syndrome, Type 3, Aliases & Descriptions:

Name: Axenfeld-Rieger Syndrome, Type 3 47 11
Axenfeld-Rieger Syndrome 10 43 22 23 12
Axenfeld-Rieger Syndrome Type 3 43 22 24
Axenfeld Anomaly 23 49 24
Rieger Syndrome 43 23 45
Rieger Anomaly 23 49 24
Axenfeld and Rieger Anomaly 23 24
Axenfeld Syndrome 10 23
Axenfeld-Rieger Anomaly with or Without Cardiac Defects and/or Sensorineural Hearing Loss 43
Iridogoniodysgenesis with Somatic Anomalies 43
Anterior Chamber Cleavage Syndrome 43
 
Rieger or Axenfeld Anomalies 47
Goniodysgenesis Hypodontia 43
Rieger Syndrome Type 3 43
Rgs - Rieger Syndrome 10
Anomaly, Rieger's 10
Rieger's Anomaly 10
Rieg3 43
Axra 23
Axrs 23
Ars 23


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Eye diseases


External Ids:

OMIM47 602482
Disease Ontology10 DOID:14686
NCIt40 C75015
ICD9CM29 743.44
MeSH35 C535679
Orphanet49 91483, 98978
ICD10 via Orphanet28 Q13.8
UMLS via Orphanet63 C0266548

Related Diseases for Axenfeld-Rieger Syndrome, Type 3

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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 34)
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 defect in the atrial septum 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

Drugs & Therapeutics for Axenfeld-Rieger Syndrome, Type 3

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Drug clinical trials:

Search ClinicalTrials for Axenfeld-Rieger Syndrome, Type 3

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

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, Bone, Heart, Hypothalamus, Pituitary

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:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.3FOXC1, PITX2
2MP:00053719.3FOXC1, PITX2
3MP:00053829.2FOXC1, PITX2
4MP:00053709.2FOXC1, PITX2
5MP:00053889.1PITX2, FOXC1
6MP:00053699.1FOXC1, PITX2
7MP:00053819.0FOXC1, PITX2
8MP:00053918.8FOXC1, PITX2

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:

64
id Symbol AA change Variation ID SNP ID
1FOXC1p.Leu130PheVAR_058730

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

7
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/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1FOXC1, PITX2

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

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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/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcription factor complexGO:00056679.1FOXC1, PITX2

Biological processes related to Axenfeld-Rieger Syndrome, Type 3 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1camera-type eye developmentGO:00430109.2FOXC1, PITX2
2odontogenesis of dentin-containing toothGO:00424759.2FOXC1, PITX2
3in utero embryonic developmentGO:00017019.1FOXC1, PITX2
4regulation of transcription, DNA-templatedGO:00063559.1FOXC1, PITX2
5negative regulation of transcription from RNA polymerase II promoterGO:00001229.0PITX2, FOXC1
6positive regulation of transcription from RNA polymerase II promoterGO:00459448.8FOXC1, PITX2

Molecular functions related to Axenfeld-Rieger Syndrome, Type 3 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA binding transcription factor activityGO:00037009.1FOXC1, PITX2
2chromatin DNA bindingGO:00314909.0FOXC1, PITX2
3transcription factor bindingGO:00081348.8FOXC1, PITX2

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

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Sources for Axenfeld-Rieger Syndrome, Type 3

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet