Axenfeld-Rieger Syndrome, Type 3 (RIEG3) 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 52 24 12 68
Axenfeld-Rieger Syndrome 11 48 24 25 39 13 68
Rieger Syndrome 48 24 25 50 68
Axenfeld Anomaly 25 54 70 27
Rieger Anomaly 25 54 70 27
Anterior Segment Mesenchymal Dysgenesis 11 70 68
Axenfeld Syndrome 11 25 68
Rieg3 11 24 70
Axenfeld-Rieger Anomaly with or Without Cardiac Defects and/or Sensorineural Hearing Loss 11 70
Anterior Chamber Cleavage Syndrome 11 70
Axenfeld-Rieger Syndrome Type 3 11 13
Axenfeld-Rieger Syndrome 3 70 27
Axenfeld-Rieger Anomaly 70 27
Rieger Syndrome Type 3 11 70
Axenfeld-Rieger Anomaly with Cardiac Defects and/or Sensorineural Hearing Loss 70
Iridogoniodysgenesis with Somatic Anomalies 48
Rieger Eye Malformation Sequence 68
Rieger or Axenfeld Anomalies 52
Axenfeld and Rieger Anomaly 25
Goniodysgenesis Hypodontia 48
Rieger Syndrome, Type 3 24
Rgs - Rieger Syndrome 11
Anomaly, Rieger's 11
Hagedoom Syndrome 11
Rieger's Anomaly 11
Axrs 25
Axra 25
Ars 25


Orphanet epidemiological data:

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


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


External Ids:

OMIM52 602482
Disease Ontology11 DOID:0110122, DOID:14686
ICD1030 Q13.8, Q13.81
SNOMED-CT62 47507006, 86628002
ICD10 via Orphanet31 Q13.8, Q15.0
UMLS via Orphanet69 C0266548

Summaries for Axenfeld-Rieger Syndrome, Type 3

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NIH Rare Diseases:48 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. last updated: 12/9/2016

MalaCards based summary: Axenfeld-Rieger Syndrome, Type 3, also known as axenfeld-rieger syndrome, is related to peters anomaly and nuchal bleb, familial, and has symptoms including malar flattening, hypertelorism and sensorineural hearing impairment. 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 pigmentation and craniofacial.

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

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.

UniProtKB/Swiss-Prot:70 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.

Wikipedia:71 Axenfeld syndrome (also known as Axenfeld-Rieger syndrome or Hagedoom syndrome) is a rare autosomal... more...

Description from OMIM:52 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 5452)
idRelated DiseaseScoreTop Affiliating Genes
1peters anomaly30.2CYP1B1, FOXC1, OPTN, PAX6
2nuchal bleb, familial30.2OPTN, SH3PXD2B
3thyroid dyshormonogenesis 330.1FOXC1, OPTN
4nevoid hypermelanosis, linear and whorled30.1CYP1B1, FOXC1, OPTN, PITX2
5muir-torre syndrome30.1CYP1B1, FOXC1, FOXE3, PAX6, PITX2
6meier-gorlin syndrome 129.9FOXE3, OPTN, PAX6
7scapuloperoneal syndrome, myopathic type29.8FOXC1, OPTN, PITX2
8myopia 729.7CYP1B1, FOXC1, FOXE3, PAX6, PITX2
9rippling muscle disease 229.5FOXE3, OPTN
10baraitser-winter syndrome28.7CYP1B1, OPTN
11cornea plana28.6FOXC1, PAX6, PITX2
12familial mediterranean fever, ar12.0
13epidermolysis bullosa dystrophica, ar12.0
14hypophosphatemic rickets, ar11.9
15immunodeficiency 27a, mycobacteriosis, ar11.9
16renal tubular acidosis, distal, ar11.8
17emery-dreifuss muscular dystrophy 3, ar11.7
18brain small vessel disease with or without ocular anomalies11.6
19androgen insensitivity11.5
20hyper-ige recurrent infection syndrome, autosomal recessive11.4
21renal tubular acidosis with deafness11.3
22myopathy, centronuclear, autosomal recessive11.2
23anterior segment mesenchymal dysgenesis11.2
24prostate cancer11.1
25oculodentodigital dysplasia, autosomal recessive11.1
26epidermolysis bullosa, nonspecific, autosomal recessive11.1
28axenfeld-rieger syndrome, type 110.9
29lupus erythematosus10.8
31fatty liver disease10.8
33breast cancer10.7
35renal tubular acidosis, proximal, with ocular abnormalities10.7
36epidermolysis bullosa simplex, sutosomal recessive 210.7
37al-raqad syndrome10.7
38epidermolysis bullosa simplex, recessive 110.7
39autosomal recessive non-syndromic intellectual disability10.7
40myeloid and lymphoid neoplasms with eosinophilia and abnormalities of pdgfra, pdgfrb, and fgfr110.7
41ectopia pupillae10.7
42hypohidrotic ectodermal dysplasia autosomal recessive10.7
43rheumatoid arthritis10.7
44ovarian cancer10.7
46lung cancer10.7
47squamous cell carcinoma10.7
48gastrointestinal stromal tumor10.7
49neural tube defects10.7

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

Diseases related to axenfeld-rieger syndrome, type 3

Symptoms & Phenotypes for Axenfeld-Rieger Syndrome, Type 3

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Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:


Human phenotypes related to Axenfeld-Rieger Syndrome, Type 3:

 64 (show all 30)
id Description HPO Frequency HPO Source Accession
1 malar flattening64 HP:0000272
2 hypertelorism64 HP:0000316
3 sensorineural hearing impairment64 HP:0000407
4 glaucoma64 HP:0000501
5 proptosis64 HP:0000520
6 posterior embryotoxon64 HP:0000627
7 hypodontia64 HP:0000668
8 microdontia64 HP:0000691
9 cerebellar vermis hypoplasia64 HP:0001320
10 atrial septal defect64 HP:0001631
11 patent ductus arteriosus64 HP:0001643
12 hypoplasia of the iris64 HP:0007676
13 ectopia pupillae64 HP:0009918
14 concave nasal ridge64 HP:0011120
15 midface retrusion64 HP:0011800
16 hypospadias64 HP:0000047
17 everted lower lip vermilion64 HP:0000232
18 hypoplasia of the maxilla64 HP:0000327
19 hearing impairment64 HP:0000365
20 wide nasal bridge64 HP:0000431
21 telecanthus64 HP:0000506
22 abnormality of the anterior chamber64 HP:0000593
23 abnormality of the hypothalamus-pituitary axis64 HP:0000864
24 growth delay64 HP:0001510
25 redundant skin64 HP:0001582
26 anal stenosis64 HP:0002025
27 depressed nasal bridge64 HP:0005280
28 aplasia/hypoplasia of the iris64 HP:0008053
29 prominent forehead64 HP:0011220
30 abnormality of cardiovascular system morphology64 HP:0030680

MGI Mouse Phenotypes related to Axenfeld-Rieger Syndrome, Type 3 according to GeneCards Suite gene sharing:

idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000118610.1COL1A1, FOXC1, PAX6, PITX2
2MP:00053829.6COL1A1, FOXC1, PAX6, PITX2, SH3PXD2B
3MP:00053699.2COL1A1, COL25A1, FOXC1, PAX6, PITX2, SH3PXD2B
4MP:00053918.6COL1A1, CYP1B1, FOXC1, PAX6, PITX2, SH3PXD2B

Drugs & Therapeutics for Axenfeld-Rieger Syndrome, Type 3

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Genetic Findings in a Chinese Family With Axenfeld-Rieger SyndromCompletedNCT03009188
2Rare 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 Anomaly27
2 Rieger Syndrome27
3 Axenfeld-Rieger Syndrome Type 327
4 Axenfeld Anomaly27
5 Axenfeld-Rieger Syndrome24 PITX2
6 Axenfeld-Rieger Syndrome, Type 324 FOXC1

Anatomical Context for Axenfeld-Rieger Syndrome, Type 3

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

Eye, Skin, Heart, Pituitary, Hypothalamus

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:

70 (show all 23)
id Symbol AA change Variation ID SNP ID

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

5 (show all 19)
id Gene Variation Type Significance SNP ID Assembly Location
1FOXC1NM_ 001453.2(FOXC1): c.256C> T (p.Leu86Phe)SNVPathogenic/ Likely pathogenicrs886039568GRCh37Chr 6, 1610936: 1610936
2FOXC1NM_ 001453.2(FOXC1): c.290dupA (p.Lys98Glufs)duplicationPathogenicrs886044143GRCh37Chr 6, 1610970: 1610970
3FOXC1NM_ 001453.2(FOXC1): c.100_ 109delGGGGGCGGCT (p.Gly34Thrfs)deletionPathogenicrs1057519471GRCh37Chr 6, 1610780: 1610789
4FOXC1NM_ 001453.2(FOXC1): c.116_ 123delCCATGCCG (p.Ala39Glyfs)deletionPathogenicrs1057519472GRCh38Chr 6, 1610561: 1610568
5FOXC1NM_ 001453.2(FOXC1): c.316C> T (p.Gln106Ter)SNVPathogenicrs1057519475GRCh38Chr 6, 1610761: 1610761
6FOXC1NM_ 001453.2(FOXC1): c.487G> T (p.Glu163Ter)SNVPathogenicrs1057519477GRCh37Chr 6, 1611167: 1611167
7FOXC1NM_ 001453.2(FOXC1): c.599_ 617del19 (p.Gln200Argfs)deletionPathogenicrs1057519478GRCh37Chr 6, 1611279: 1611297
8FOXC1NM_ 001453.2(FOXC1): c.666_ 681del16 (p.Ile223Profs)deletionPathogenicrs1057519479GRCh38Chr 6, 1611111: 1611126
9FOXC1NM_ 001453.2(FOXC1): c.718_ 719delCT (p.Leu240Valfs)deletionPathogenicrs1057519480GRCh38Chr 6, 1611163: 1611164
10FOXC1NM_ 001453.2(FOXC1): c.925_ 949del25 (p.Ser309Cysfs)deletionPathogenicrs1057519481GRCh38Chr 6, 1611370: 1611394
11FOXC1NM_ 001453.2(FOXC1): c.1265C> A (p.Ser422Ter)SNVPathogenicrs1057519482GRCh38Chr 6, 1611710: 1611710
12FOXC1NM_ 001453.2(FOXC1): c.1491C> G (p.Tyr497Ter)SNVPathogenicrs760676014GRCh38Chr 6, 1611936: 1611936
14FOXC1NC_ 000006.11: g.951385_ 1832936dup881552copy number gainPathogenicGRCh37Chr 6, 951385: 1832936
15FOXC1NC_ 000006.12: g.(?_ 1610445)_ (1612107_ ?)deldeletionPathogenicGRCh38Chr 6, 1610445: 1612107
16FOXC1NM_ 001453.2(FOXC1): c.335T> C (p.Phe112Ser)SNVPathogenicrs104893951GRCh37Chr 6, 1611015: 1611015
17FOXC1NM_ 001453.2(FOXC1): c.67C> T (p.Gln23Ter)SNVPathogenicrs104893952GRCh37Chr 6, 1610747: 1610747
18FOXC1NM_ 001453.2(FOXC1): c.245G> C (p.Ser82Thr)SNVPathogenicrs104893953GRCh37Chr 6, 1610925: 1610925
19FOXC1NM_ 001453.2(FOXC1): c.358C> T (p.Gln120Ter)SNVPathogenicrs121909339GRCh37Chr 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
110.0FOXC1, PITX2

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
1nuclear heterochromatinGO:00057209.7CBX5, FOXC1

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

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of DNA bindingGO:004338810.7FOXC1, PITX2
2lacrimal gland developmentGO:003280810.7FOXC1, PAX6
3cellular response to epidermal growth factor stimulusGO:007136410.6COL1A1, FOXC1
4endochondral ossificationGO:000195810.6COL1A1, FOXC1
5pituitary gland developmentGO:002198310.6PAX6, PITX2
6positive regulation of epithelial to mesenchymal transitionGO:001071810.6COL1A1, FOXC1
7brain developmentGO:000742010.4FOXC1, PAX6, PITX2
8skeletal system morphogenesisGO:004870510.4COL1A1, SH3PXD2B
9collagen fibril organizationGO:003019910.4COL1A1, CYP1B1, FOXC1
10blood vessel developmentGO:000156810.4COL1A1, FOXC1, PAX6
11heart developmentGO:000750710.2FOXC1, PITX2, SH3PXD2B
12skeletal system developmentGO:000150110.1COL1A1, FOXC1, SH3PXD2B
13cornea development in camera-type eyeGO:006130310.1FOXE3, PAX6
14lens development in camera-type eyeGO:000208810.1FOXE3, PAX6
15trabecular meshwork developmentGO:000293010.1CYP1B1, FOXE3
16positive regulation of transcription, DNA-templatedGO:004589310.0COL1A1, FOXC1, PAX6, PITX2
17iris morphogenesisGO:00610729.8FOXE3, PAX6, PITX2
18camera-type eye developmentGO:00430109.6FOXC1, FOXE3, PAX6, PITX2
19visual perceptionGO:00076019.6COL1A1, CYP1B1, PAX6
20transcription from RNA polymerase II promoterGO:00063668.8FOXC1, FOXE3, MEIS2, PAX6, PITX2
21eye developmentGO:00016548.8FOXC1, FOXE3, MEIS2, PAX6, SH3PXD2B

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:007049110.2CBX5, PRDM5
2transcription factor bindingGO:00081349.6FOXC1, MEIS2, PAX6, PITX2
3RNA polymerase II transcription factor activity, sequence-specific DNA bindingGO:00009819.6FOXC1, FOXE3, PAX6, PITX2
4RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:00009789.5MEIS2, PAX6, PITX2, PRDM5
5transcription regulatory region DNA bindingGO:00442129.4FOXC1, PAX6, PRDM5
6transcription factor activity, sequence-specific DNA bindingGO:00037008.9FOXC1, FOXE3, MEIS2, PAX6, PITX2
7sequence-specific DNA bindingGO:00435658.4FOXC1, FOXE3, MEIS2, PAX6, PITX2, PRDM5

Sources for Axenfeld-Rieger Syndrome, Type 3

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31ICD10 via Orphanet
40MESH via Orphanet
53OMIM via Orphanet
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
69UMLS via Orphanet