MCID: AXN010
MIFTS: 54

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 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 3 70 27
Axenfeld-Rieger Anomaly 70 27
Rieger Syndrome Type 3 11 70
Iridogoniodysgenesis with Somatic Anomalies 48
 
Rieger Eye Malformation Sequence 68
Axenfeld-Rieger Syndrome Type 3 11
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

Characteristics:

Orphanet epidemiological data:

54
rieger anomaly:
Inheritance: Autosomal dominant; Age of onset: Neonatal; Age of death: normal life expectancy
axenfeld anomaly:
Inheritance: Autosomal dominant

HPO:

64
axenfeld-rieger syndrome, type 3:
Inheritance: autosomal dominant inheritance, heterogeneous

Classifications:



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 anterior segment mesenchymal dysgenesis 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). Affiliated tissues include eye, skin and heart, and related mouse phenotypes are pigmentation and respiratory system.

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

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.

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.

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 2516)
idRelated DiseaseScoreTop Affiliating Genes
1anterior segment mesenchymal dysgenesis32.4FOXC1, FOXE3, PITX3
2familial hyperaldosteronism30.7CYP1B1, PITX2
3iridogoniodysgenesis, type 230.7PITX2, PITX3
4peters anomaly29.5CYP1B1, FOXC1, FOXE3, HDAC9, PAX6, PITX2
5familial mediterranean fever, ar12.0
6epidermolysis bullosa dystrophica, ar12.0
7hypophosphatemic rickets, ar11.9
8immunodeficiency 27a, mycobacteriosis, ar11.9
9renal tubular acidosis, distal, ar11.8
10emery-dreifuss muscular dystrophy 3, ar11.7
11brain small vessel disease with or without ocular anomalies11.6
12androgen insensitivity11.5
13hyper-ige recurrent infection syndrome, autosomal recessive11.4
14renal tubular acidosis with deafness11.3
15myopathy, centronuclear, autosomal recessive11.2
16prostate cancer11.1
17oculodentodigital dysplasia, autosomal recessive11.1
18epidermolysis bullosa, nonspecific, autosomal recessive11.1
19axenfeld-rieger syndrome, type 110.9
20leukemia10.8
21lupus erythematosus10.8
22rheumatoid arthritis10.8
23lymphoma10.8
24breast cancer10.7
25schizophrenia10.7
26gastrointestinal stromal tumor10.7
27neural tube defects10.7
28obesity10.7
29lung cancer10.7
30renal tubular acidosis, proximal, with ocular abnormalities10.7
31epidermolysis bullosa simplex, sutosomal recessive 210.7
32al-raqad syndrome10.7
33epidermolysis bullosa simplex, recessive 110.7
34autosomal recessive non-syndromic intellectual disability10.7
35myeloid and lymphoid neoplasms with eosinophilia and abnormalities of pdgfra, pdgfrb, and fgfr110.7
36ectopia pupillae10.7
37hypohidrotic ectodermal dysplasia autosomal recessive10.7
38severe combined immunodeficiency due to complete rag1/2 deficiency10.7
39epilepsy10.7
40diarrhea10.7
41vaginitis10.7
42myelodysplastic syndrome10.7
43arthritis10.7
44pheochromocytoma10.7
45hepatitis10.7
46colorectal cancer10.7
47alzheimer disease10.7
48atherosclerosis10.7
49pancreatitis10.7
50ewing sarcoma10.6

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:

602482

Clinical features from OMIM:

602482

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

 64 (show all 27)
id Description HPO Frequency HPO Source Accession
1 abnormality of the anterior chamber64 hallmark (90%) HP:0000593
2 posterior embryotoxon64 hallmark (90%) HP:0000627
3 aplasia/hypoplasia of the iris64 hallmark (90%) HP:0008053
4 everted lower lip vermilion64 typical (50%) HP:0000232
5 malar flattening64 typical (50%) HP:0000272
6 hearing impairment64 typical (50%) HP:0000365
7 glaucoma64 typical (50%) HP:0000501
8 hypertelorism64 occasional (7.5%) HP:0000316
9 telecanthus64 occasional (7.5%) HP:0000506
10 microdontia64 occasional (7.5%) HP:0000691
11 abnormality of the hypothalamus-pituitary axis64 occasional (7.5%) HP:0000864
12 cutis laxa64 occasional (7.5%) HP:0000973
13 frontal bossing64 occasional (7.5%) HP:0002007
14 depressed nasal bridge64 occasional (7.5%) HP:0005280
15 reduced number of teeth64 occasional (7.5%) HP:0009804
16 urogenital fistula64 occasional (7.5%) HP:0100589
17 displacement of the external urethral meatus64 occasional (7.5%) HP:0100627
18 sensorineural hearing impairment64 HP:0000407
19 proptosis64 HP:0000520
20 hypodontia64 HP:0000668
21 cerebellar vermis hypoplasia64 HP:0001320
22 atria septal defect64 HP:0001631
23 patent ductus arteriosus64 HP:0001643
24 hypoplasia of the iris64 HP:0007676
25 ectopia pupillae64 HP:0009918
26 concave nasal ridge64 HP:0011120
27 obsolete flat midface64 HP:0040199

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000118610.0COL1A1, FOXC1, PAX6, PITX2, PITX3
2MP:00053889.6COL1A1, COL25A1, FOXC1, PAX6, PITX2, PITX3
3MP:00030129.3COL1A1, LGR4, OPTN, PITX2, PITX3, PRSS12
4MP:00107718.8COL1A1, FOXC1, LGR4, PAX6, PITX3, PLEKHG5
5MP:00053698.6COL1A1, COL25A1, FOXC1, HDAC9, PAX6, PITX2
6MP:00053858.3COL1A1, FOXC1, HDAC9, LGR4, PAX6, PITX2
7MP:00053768.1COL1A1, COL25A1, CYP1B1, FOXC1, LGR4, OPTN
8MP:00053918.0COL1A1, CYP1B1, FOXC1, LGR4, PAX6, PITX2

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 Rieger Syndrome27
2 Axenfeld-Rieger Anomaly27
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:

36
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 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 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1PITX2NM_153427.2(PITX2): c.*454C> TSNVPathogenicrs6533526GRCh38Chr 4, 110617671: 110617671
2FOXC1NM_001453.2(FOXC1): c.290dupA (p.Lys98Glufs)duplicationPathogenicrs886044143GRCh37Chr 6, 1610970: 1610970
3FOXE3NM_012186.2(FOXE3): c.959G> T (p.Ter320Leu)SNVPathogenicrs387906793GRCh37Chr 1, 47882946: 47882946
4PITX3PITX3, 17-BP DUP, NT657duplicationPathogenicChr na, -1: -1
5FOXE3FOXE3, 1-BP INS, 943GinsertionPathogenicChr na, -1: -1
6FOXC1FOXC1, 11-BP DELdeletionPathogenicChr na, -1: -1
7FOXC1NM_001453.2(FOXC1): c.392C> T (p.Ser131Leu)SNVPathogenicrs104893957GRCh37Chr 6, 1611072: 1611072
8FOXC1NM_001453.2(FOXC1): c.378C> G (p.Ile126Met)SNVPathogenicrs104893958GRCh37Chr 6, 1611058: 1611058
9FOXC1NM_001453.2(FOXC1): c.335T> C (p.Phe112Ser)SNVPathogenicrs104893951GRCh37Chr 6, 1611015: 1611015
10FOXC1NM_001453.2(FOXC1): c.67C> T (p.Gln23Ter)SNVPathogenicrs104893952GRCh37Chr 6, 1610747: 1610747
11FOXC1FOXC1, 22-BP INS, NT26insertionPathogenicChr na, -1: -1
12FOXC1NM_001453.2(FOXC1): c.245G> C (p.Ser82Thr)SNVPathogenicrs104893953GRCh37Chr 6, 1610925: 1610925
13FOXC1NM_001453.2(FOXC1): c.388C> T (p.Leu130Phe)SNVPathogenicrs121909338GRCh37Chr 6, 1611068: 1611068
14FOXC1NM_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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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
1histone methyltransferase complexGO:00350979.7CBX5, HDAC9
2nuclear heterochromatinGO:00057209.4CBX5, FOXC1

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1lacrimal gland developmentGO:003280810.7FOXC1, PAX6
2cornea development in camera-type eyeGO:006130310.7FOXE3, PAX6
3pituitary gland developmentGO:002198310.7PAX6, PITX2
4trabecular meshwork developmentGO:000293010.7CYP1B1, FOXE3
5animal organ morphogenesisGO:000988710.5PAX6, PITX2, PITX3
6iris morphogenesisGO:006107210.5FOXE3, PAX6, PITX2
7collagen fibril organizationGO:003019910.5COL1A1, CYP1B1, FOXC1
8lens development in camera-type eyeGO:000208810.5FOXE3, PAX6, PITX3
9blood vessel developmentGO:000156810.4COL1A1, FOXC1, PAX6
10endothelial cell migrationGO:004354210.4CYP1B1, PLEKHG5
11camera-type eye developmentGO:004301010.3FOXC1, FOXE3, PAX6, PITX2
12skeletal system developmentGO:000150110.2COL1A1, FOXC1, SH3PXD2B
13heart developmentGO:000750710.0FOXC1, HDAC9, PITX2, SH3PXD2B
14eye developmentGO:00016549.4FOXC1, FOXE3, MEIS2, PAX6, SH3PXD2B
15positive regulation of transcription, DNA-templatedGO:00458939.4COL1A1, FOXC1, LGR4, PAX6, PITX2, PITX3
16transcription from RNA polymerase II promoterGO:00063668.7FOXC1, FOXE3, MEIS2, PAX6, PITX2, PITX3

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

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II transcription factor activity, sequence-specific DNA bindingGO:000098110.3FOXC1, FOXE3, PAX6, PITX2
2repressing transcription factor bindingGO:00704919.7CBX5, HDAC9, PRDM5
3RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:00009789.4MEIS2, PAX6, PITX2, PITX3, PRDM5
4transcription factor bindingGO:00081349.4FOXC1, HDAC9, MEIS2, PAX6, PITX2
5sequence-specific DNA bindingGO:00435659.2FOXC1, FOXE3, MEIS2, PAX6, PITX2, PRDM5
6transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010779.1MEIS2, PAX6, PITX2, PITX3

Sources for Axenfeld-Rieger Syndrome, Type 3

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet