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 49 11 22 65
Axenfeld-Rieger Syndrome 10 45 22 23 12 65
Rieger Syndrome 45 22 23 47 65
Axenfeld Anomaly 23 51 67 24
Rieger Anomaly 23 51 67 24
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 Segment Mesenchymal Dysgenesis 67 65
Anterior Chamber Cleavage Syndrome 45 67
Axenfeld-Rieger Syndrome 3 67 24
Axenfeld-Rieger Anomaly 67 24
Rieger Syndrome Type 3 45 67
Iridogoniodysgenesis with Somatic Anomalies 45
 
Rieger Eye Malformation Sequence 65
Axenfeld-Rieger Syndrome Type 3 45
Rieger or Axenfeld Anomalies 49
Axenfeld and Rieger Anomaly 23
Goniodysgenesis Hypodontia 45
Rieger Syndrome, Type 3 22
Rgs - Rieger Syndrome 10
Anomaly, Rieger's 10
Hagedoom Syndrome 10
Rieger's Anomaly 10
Axra 23
Axrs 23
Ars 23

Characteristics:

HPO:

61
axenfeld-rieger syndrome, type 3:
Inheritance: heterogeneous, autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 602482
Disease Ontology10 DOID:14686
ICD1027 Q13.81
Orphanet51 91483, 98978
SNOMED-CT59 47507006, 86628002
ICD10 via Orphanet28 Q13.8, Q15.0
UMLS via Orphanet66 C0266548
UMLS65 C0265341, C3495488, C1280768 C3495489, C2678503, C1862839, more

Summaries for Axenfeld-Rieger Syndrome, Type 3

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NIH Rare Diseases:45 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 bullous keratopathy and adams-oliver syndrome, 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 heart, 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 3739)
idRelated DiseaseScoreTop Affiliating Genes
1bullous keratopathy30.5CYP1B1, OPTN
2adams-oliver syndrome30.5CYP1B1, OPTN
3leber congenital amaurosis30.5CYP1B1, PAX6
4waldenstrom macroglobulinemia30.1LGR4, PAX6
5ovarian disease30.1OPTN, PAX6
6ehlers-danlos syndrome, type vi30.0COL1A1, PRDM5
7peters anomaly29.2CYP1B1, FOXC1, FREM1, HDAC9, PAX6, PITX2
8separation anxiety disorder28.9CYP1B1, FOXC1, OPTN, PAX6, PITX2
9familial mediterranean fever, ar12.4
10hypophosphatemic rickets, ar12.4
11immunodeficiency 27a, mycobacteriosis, ar12.4
12epidermolysis bullosa dystrophica, ar12.4
13renal tubular acidosis, distal, ar12.3
14emery-dreifuss muscular dystrophy 3, ar12.2
15brain small vessel disease with or without ocular anomalies12.1
16androgen insensitivity12.0
17iris dysplasia hypertelorism deafness11.9
18hyper-ige recurrent infection syndrome, autosomal recessive11.8
19renal tubular acidosis with deafness11.8
20anterior segment mesenchymal dysgenesis11.7
21myopathy, centronuclear, autosomal recessive11.7
22oculodentodigital dysplasia, autosomal recessive11.5
23al-raqad syndrome11.2
24autosomal recessive non-syndromic intellectual disability11.2
25ectopia pupillae11.2
26hypohidrotic ectodermal dysplasia autosomal recessive11.2
27severe immunodeficiency, autosomal recessive, t-cell negative, b-cell negative, nk cell-positive11.2
28epidermolysis bullosa simplex due to bp230 deficiency11.2
29epidermolysis bullosa simplex due to exophilin 5 deficiency11.2
30krt14-related epidermolysis bullosa simplex11.2
31autosomal recessive proximal renal tubular acidosis11.2
32prostate cancer11.2
33colorectal cancer11.2
34leukemia10.9
35tongue squamous cell carcinoma10.9
36breast cancer10.9
37hepatitis10.9
38lymphoma10.9
39pancreatitis10.8
40lung cancer10.8
41adenocarcinoma10.8
42melanoma10.8
43axenfeld-rieger syndrome, type 110.8
44rieger syndrome, type 210.8
45arthritis10.8
46obesity10.7
47hepatocellular carcinoma10.7
48cervical squamous cell carcinoma10.7
49cervicitis10.7
50sarcoma10.7

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 obsolete flat midface HP:0040199
19 concave nasal ridge HP:0011120
20 ectopia pupillae HP:0009918
21 hypoplasia of the iris HP:0007676
22 patent ductus arteriosus HP:0001643
23 atria septal defect HP:0001631
24 cerebellar vermis hypoplasia HP:0001320
25 microdontia HP:0000691
26 hypodontia HP:0000668
27 posterior embryotoxon HP:0000627
28 proptosis HP:0000520
29 glaucoma HP:0000501
30 sensorineural hearing impairment HP:0000407
31 hypertelorism HP:0000316
32 malar flattening HP:0000272

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

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

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, 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:

38 (show all 17)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.6COL1A1, FOXC1, PAX6, PITX2
2MP:00053889.3COL1A1, FOXC1, FREM1, PAX6, PITX2
3MP:00053709.2COL1A1, FOXC1, FREM1, LGR4, PITX2
4MP:00053678.9COL1A1, FOXC1, FREM1, LGR4, PAX6
5MP:00053798.8COL1A1, FOXC1, FREM1, LGR4, PAX6, PITX2
6MP:00030128.7COL1A1, LGR4, OPTN, PITX2, PRSS12
7MP:00053818.7COL1A1, FOXC1, FREM1, LGR4, PAX6, PITX2
8MP:00107718.2COL1A1, FOXC1, FREM1, LGR4, PAX6, SH3PXD2B
9MP:00053828.1COL1A1, FOXC1, FREM1, PAX6, PITX2, SH3PXD2B
10MP:00036318.1COL1A1, FOXC1, FREM1, LGR4, PAX6, PITX2
11MP:00053897.9COL1A1, FOXC1, FREM1, LGR4, PAX6, PITX2
12MP:00053697.8COL1A1, FOXC1, FREM1, HDAC9, PAX6, PITX2
13MP:00053917.6COL1A1, CYP1B1, FOXC1, FREM1, LGR4, PAX6
14MP:00053907.5COL1A1, FOXC1, FREM1, PAX6, PITX2, PRDM5
15MP:00053857.1COL1A1, FOXC1, HDAC9, LGR4, PAX6, PITX2
16MP:00053787.0COL1A1, FOXC1, FREM1, HDAC9, LGR4, PAX6
17MP:00107686.7COL1A1, FOXC1, FREM1, HDAC9, LGR4, OPTN

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
1FREM1NM_144966.5(FREM1): c.1493G> A (p.Arg498Gln)single nucleotide variantPathogenicrs184394424GRCh37Chr 9, 14842559: 14842559
2FOXC1FOXC1, 11-BP DELdeletionPathogenic
3FOXC1NM_001453.2(FOXC1): c.392C> T (p.Ser131Leu)single nucleotide variantPathogenicrs104893957GRCh37Chr 6, 1611072: 1611072
4FOXC1NM_001453.2(FOXC1): c.335T> C (p.Phe112Ser)single nucleotide variantPathogenicrs104893951GRCh37Chr 6, 1611015: 1611015
5FOXC1NM_001453.2(FOXC1): c.67C> T (p.Gln23Ter)single nucleotide variantPathogenicrs104893952GRCh37Chr 6, 1610747: 1610747
6FOXC1NM_001453.2(FOXC1): c.245G> C (p.Ser82Thr)single nucleotide variantPathogenicrs104893953GRCh37Chr 6, 1610925: 1610925
7FOXC1NM_001453.2(FOXC1): c.388C> T (p.Leu130Phe)single nucleotide variantPathogenicrs121909338GRCh37Chr 6, 1611068: 1611068
8FOXC1NM_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
29.9FOXC1, PAX6

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 8)
idNameGO IDScoreTop Affiliating Genes
1camera-type eye developmentGO:004301010.3FOXC1, PITX2
2collagen fibril organizationGO:003019910.1COL1A1, CYP1B1, FOXC1
3blood vessel developmentGO:00015689.8COL1A1, FOXC1, PAX6
4osteoblast differentiationGO:00016499.6COL1A1, LGR4
5heart developmentGO:00075079.5FOXC1, HDAC9, PITX2
6transcription from RNA polymerase II promoterGO:00063669.3FOXC1, PAX6, PITX2
7eye developmentGO:00016549.3FOXC1, PAX6, SH3PXD2B
8positive regulation of transcription, DNA-templatedGO:00458938.9COL1A1, FOXC1, LGR4, PAX6, PITX2

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

idNameGO IDScoreTop Affiliating Genes
1transcription regulatory region DNA bindingGO:00442129.2FOXC1, PAX6, PRDM5

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