RIEG3
MCID: AXN010
MIFTS: 55

Axenfeld-Rieger Syndrome, Type 3 (RIEG3) malady

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

Aliases & Classifications for Axenfeld-Rieger Syndrome, Type 3

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

Name: Axenfeld-Rieger Syndrome, Type 3 54 24 13 69
Axenfeld-Rieger Syndrome 12 50 24 25 42 14 69
Rieger Syndrome 50 24 25 52 69
Axenfeld Anomaly 25 56 66 29
Rieger Anomaly 25 56 66 29
Anterior Segment Mesenchymal Dysgenesis 12 66 69
Axenfeld Syndrome 12 25 69
Rieg3 12 24 66
Axenfeld-Rieger Anomaly with or Without Cardiac Defects and/or Sensorineural Hearing Loss 12 66
Anterior Chamber Cleavage Syndrome 12 66
Axenfeld-Rieger Syndrome Type 3 12 14
Axenfeld-Rieger Syndrome 3 66 29
Axenfeld-Rieger Anomaly 66 29
Rieger Syndrome Type 3 12 66
Axenfeld-Rieger Anomaly with Cardiac Defects and/or Sensorineural Hearing Loss 66
Iridogoniodysgenesis with Somatic Anomalies 50
Rieger Eye Malformation Sequence 69
Rieger or Axenfeld Anomalies 54
Axenfeld and Rieger Anomaly 25
Goniodysgenesis Hypodontia 50
Rieger Syndrome, Type 3 24
Rgs - Rieger Syndrome 12
Anomaly, Rieger's 12
Hagedoom Syndrome 12
Rieger's Anomaly 12
Axra 25
Axrs 25
Ars 25

Characteristics:

Orphanet epidemiological data:

56
rieger anomaly
Inheritance: Autosomal dominant; Age of onset: Neonatal; Age of death: normal life expectancy;
axenfeld anomaly
Inheritance: Autosomal dominant;

HPO:

32
axenfeld-rieger syndrome, type 3:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



External Ids:

OMIM 54 602482
Disease Ontology 12 DOID:0110122 DOID:14686
ICD10 33 Q13.8 Q13.81
SNOMED-CT 64 47507006 86628002
ICD10 via Orphanet 34 Q13.8 Q15.0
UMLS via Orphanet 70 C0266548
UMLS 69 C0265341

Summaries for Axenfeld-Rieger Syndrome, Type 3

NIH Rare Diseases : 50 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 hearing impairment. An important gene associated with Axenfeld-Rieger Syndrome, Type 3 is FOXC1 (Forkhead Box C1), and among its related pathways/superpathways is Heart Development. Affiliated tissues include eye, skin and heart, and related phenotypes are craniofacial and muscle

Disease Ontology : 12 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 : 66 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: 602482

Related Diseases for Axenfeld-Rieger Syndrome, Type 3

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 5451)
id Related Disease Score Top Affiliating Genes
1 peters anomaly 30.2 CYP1B1 FOXC1 OPTN PAX6
2 nuchal bleb, familial 30.2 OPTN SH3PXD2B
3 thyroid dyshormonogenesis 3 30.1 FOXC1 OPTN
4 nevoid hypermelanosis, linear and whorled 30.1 CYP1B1 FOXC1 OPTN PITX2
5 muir-torre syndrome 30.1 CYP1B1 FOXC1 FOXE3 PAX6 PITX2
6 meier-gorlin syndrome 1 29.9 FOXE3 OPTN PAX6
7 scapuloperoneal syndrome, myopathic type 29.8 FOXC1 OPTN PITX2
8 myopia 7 29.7 CYP1B1 FOXC1 FOXE3 PAX6 PITX2
9 rippling muscle disease 2 29.5 FOXE3 OPTN
10 baraitser-winter syndrome 28.7 CYP1B1 OPTN
11 cornea plana 28.6 FOXC1 PAX6 PITX2
12 familial mediterranean fever, ar 12.0
13 epidermolysis bullosa dystrophica, ar 12.0
14 hypophosphatemic rickets, ar 11.9
15 immunodeficiency 27a, mycobacteriosis, ar 11.9
16 renal tubular acidosis, distal, ar 11.8
17 emery-dreifuss muscular dystrophy 3, ar 11.7
18 brain small vessel disease with or without ocular anomalies 11.6
19 androgen insensitivity 11.5
20 hyper-ige recurrent infection syndrome, autosomal recessive 11.4
21 renal tubular acidosis with deafness 11.3
22 myopathy, centronuclear, autosomal recessive 11.2
23 anterior segment mesenchymal dysgenesis 11.2
24 prostate cancer 11.1
25 epidermolysis bullosa, nonspecific, autosomal recessive 11.1
26 oculodentodigital dysplasia, autosomal recessive 11.1
27 axenfeld-rieger syndrome, type 1 10.9
28 lupus erythematosus 10.8
29 leukemia 10.8
30 fatty liver disease 10.8
31 lymphoma 10.7
32 breast cancer 10.7
33 schizophrenia 10.7
34 ectopia pupillae 10.7
35 epidermolysis bullosa simplex, recessive 1 10.7
36 hypohidrotic ectodermal dysplasia autosomal recessive 10.7
37 myeloid and lymphoid neoplasms with eosinophilia and abnormalities of pdgfra, pdgfrb, and fgfr1 10.7
38 al-raqad syndrome 10.7
39 autosomal recessive non-syndromic intellectual disability 10.7
40 epidermolysis bullosa simplex, sutosomal recessive 2 10.7
41 renal tubular acidosis, proximal, with ocular abnormalities 10.7
42 rheumatoid arthritis 10.7
43 ovarian cancer 10.7
44 obesity 10.7
45 lung cancer 10.7
46 squamous cell carcinoma 10.7
47 gastrointestinal stromal tumor 10.7
48 neural tube defects 10.7
49 epilepsy 10.7
50 hepatitis 10.7

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

Symptoms by clinical synopsis from OMIM:

602482

Clinical features from OMIM:

602482

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

32 (show all 30)
id Description HPO Frequency HPO Source Accession
1 malar flattening 32 HP:0000272
2 hypertelorism 32 HP:0000316
3 hearing impairment 32 HP:0000365
4 depressed nasal bridge 32 HP:0005280
5 wide nasal bridge 32 HP:0000431
6 sensorineural hearing impairment 32 HP:0000407
7 prominent forehead 32 HP:0011220
8 patent ductus arteriosus 32 HP:0001643
9 concave nasal ridge 32 HP:0011120
10 everted lower lip vermilion 32 HP:0000232
11 microdontia 32 HP:0000691
12 growth delay 32 HP:0001510
13 telecanthus 32 HP:0000506
14 hypospadias 32 HP:0000047
15 hypoplasia of the maxilla 32 HP:0000327
16 glaucoma 32 HP:0000501
17 hypoplasia of the iris 32 HP:0007676
18 posterior embryotoxon 32 HP:0000627
19 hypodontia 32 HP:0000668
20 redundant skin 32 HP:0001582
21 aplasia/hypoplasia of the iris 32 HP:0008053
22 midface retrusion 32 HP:0011800
23 proptosis 32 HP:0000520
24 abnormality of cardiovascular system morphology 32 HP:0030680
25 anal stenosis 32 HP:0002025
26 abnormality of the hypothalamus-pituitary axis 32 HP:0000864
27 ectopia pupillae 32 HP:0009918
28 cerebellar vermis hypoplasia 32 HP:0001320
29 abnormality of the anterior chamber 32 HP:0000593
30 atrial septal defect 32 HP:0001631

MGI Mouse Phenotypes related to Axenfeld-Rieger Syndrome, Type 3:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.65 COL1A1 FOXC1 PAX6 PITX2 SH3PXD2B
2 muscle MP:0005369 9.63 COL1A1 COL25A1 FOXC1 PAX6 PITX2 SH3PXD2B
3 pigmentation MP:0001186 9.26 PAX6 PITX2 COL1A1 FOXC1
4 vision/eye MP:0005391 9.1 COL1A1 CYP1B1 FOXC1 PAX6 PITX2 SH3PXD2B

Drugs & Therapeutics for Axenfeld-Rieger Syndrome, Type 3

Interventional clinical trials:


id Name Status NCT ID Phase
1 Genetic Findings in a Chinese Family With Axenfeld-Rieger Syndrom Completed NCT03009188
2 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

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

Genetic tests related to Axenfeld-Rieger Syndrome, Type 3:

id Genetic test Affiliating Genes
1 Axenfeld-Rieger Anomaly 29
2 Rieger Syndrome 29
3 Axenfeld-Rieger Syndrome Type 3 29
4 Axenfeld Anomaly 29
5 Axenfeld-Rieger Syndrome 24 PITX2
6 Axenfeld-Rieger Syndrome, Type 3 24 FOXC1

Anatomical Context for Axenfeld-Rieger Syndrome, Type 3

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

39
Eye, Skin, Heart, Pituitary, Hypothalamus

Publications for Axenfeld-Rieger Syndrome, Type 3

Variations for Axenfeld-Rieger Syndrome, Type 3

UniProtKB/Swiss-Prot genetic disease variations for Axenfeld-Rieger Syndrome, Type 3:

66 (show all 23)
id Symbol AA change Variation ID SNP ID
1 FOXC1 p.Phe112Ser VAR_007815 rs104893951
2 FOXC1 p.Ile126Met VAR_007816 rs104893958
3 FOXC1 p.Ser131Leu VAR_007817 rs104893957
4 FOXC1 p.Ser82Thr VAR_007944 rs104893953
5 FOXC1 p.Ile87Met VAR_007945 rs104893954
6 FOXC1 p.Met161Lys VAR_018150
7 FOXC1 p.Pro79Leu VAR_058722
8 FOXC1 p.Pro79Arg VAR_058723
9 FOXC1 p.Pro79Thr VAR_058724
10 FOXC1 p.Leu86Phe VAR_058725
11 FOXC1 p.Ile91Ser VAR_058726
12 FOXC1 p.Ile91Thr VAR_058727
13 FOXC1 p.Tyr115Ser VAR_058728
14 FOXC1 p.Arg127His VAR_058729
15 FOXC1 p.Leu130Phe VAR_058730 rs121909338
16 FOXC1 p.Gly149Asp VAR_058731
17 FOXC1 p.Met161Val VAR_058732
18 FOXC1 p.Gly165Arg VAR_058733
19 FOXC1 p.Arg169Pro VAR_058734
20 FOXC1 p.Ile126Ser VAR_078503
21 FOXC1 p.Arg127Leu VAR_078504
22 FOXC1 p.His128Arg VAR_078505
23 FOXC1 p.Cys135Tyr VAR_078507

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

6 (show all 19)
id Gene Variation Type Significance SNP ID Assembly Location
1 FOXC1 NM_001453.2(FOXC1): c.335T> C (p.Phe112Ser) single nucleotide variant Pathogenic rs104893951 GRCh37 Chromosome 6, 1611015: 1611015
2 FOXC1 NM_001453.2(FOXC1): c.67C> T (p.Gln23Ter) single nucleotide variant Pathogenic rs104893952 GRCh37 Chromosome 6, 1610747: 1610747
3 FOXC1 NM_001453.2(FOXC1): c.245G> C (p.Ser82Thr) single nucleotide variant Pathogenic rs104893953 GRCh37 Chromosome 6, 1610925: 1610925
4 FOXC1 NM_001453.2(FOXC1): c.358C> T (p.Gln120Ter) single nucleotide variant Pathogenic rs121909339 GRCh37 Chromosome 6, 1611038: 1611038
5 FOXC1 NM_001453.2(FOXC1): c.256C> T (p.Leu86Phe) single nucleotide variant Pathogenic/Likely pathogenic rs886039568 GRCh37 Chromosome 6, 1610936: 1610936
6 FOXC1 NM_001453.2(FOXC1): c.290dupA (p.Lys98Glufs) duplication Pathogenic rs886044143 GRCh37 Chromosome 6, 1610970: 1610970
7 FOXC1 NC_000006.12: g.(?_1610445)_(1612107_?)del deletion Pathogenic GRCh38 Chromosome 6, 1610445: 1612107
8 FOXC1 NM_001453.2(FOXC1): c.100_109delGGGGGCGGCT (p.Gly34Thrfs) deletion Pathogenic rs1057519471 GRCh37 Chromosome 6, 1610780: 1610789
9 FOXC1 NM_001453.2(FOXC1): c.116_123delCCATGCCG (p.Ala39Glyfs) deletion Pathogenic rs1057519472 GRCh38 Chromosome 6, 1610561: 1610568
10 FOXC1 NM_001453.2(FOXC1): c.316C> T (p.Gln106Ter) single nucleotide variant Pathogenic rs1057519475 GRCh38 Chromosome 6, 1610761: 1610761
11 FOXC1 NM_001453.2(FOXC1): c.487G> T (p.Glu163Ter) single nucleotide variant Pathogenic rs1057519477 GRCh37 Chromosome 6, 1611167: 1611167
12 FOXC1 NM_001453.2(FOXC1): c.599_617del19 (p.Gln200Argfs) deletion Pathogenic rs1057519478 GRCh37 Chromosome 6, 1611279: 1611297
13 FOXC1 NM_001453.2(FOXC1): c.666_681del16 (p.Ile223Profs) deletion Pathogenic rs1057519479 GRCh38 Chromosome 6, 1611111: 1611126
14 FOXC1 NM_001453.2(FOXC1): c.718_719delCT (p.Leu240Valfs) deletion Pathogenic rs1057519480 GRCh38 Chromosome 6, 1611163: 1611164
15 FOXC1 NM_001453.2(FOXC1): c.925_949del25 (p.Ser309Cysfs) deletion Pathogenic rs1057519481 GRCh38 Chromosome 6, 1611370: 1611394
16 FOXC1 NM_001453.2(FOXC1): c.1265C> A (p.Ser422Ter) single nucleotide variant Pathogenic rs1057519482 GRCh38 Chromosome 6, 1611710: 1611710
17 FOXC1 NM_001453.2(FOXC1): c.1491C> G (p.Tyr497Ter) single nucleotide variant Pathogenic rs760676014 GRCh38 Chromosome 6, 1611936: 1611936
18 der(6)t(6;10)(p25.2;q26.3) Translocation Pathogenic
19 FOXC1 NC_000006.11: g.951385_1832936dup881552 copy number gain Pathogenic GRCh37 Chromosome 6, 951385: 1832936

Expression for Axenfeld-Rieger Syndrome, Type 3

Search GEO for disease gene expression data for Axenfeld-Rieger Syndrome, Type 3.

Pathways for Axenfeld-Rieger Syndrome, Type 3

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

id Super pathways Score Top Affiliating Genes
1 10.29 FOXC1 PITX2

GO Terms for Axenfeld-Rieger Syndrome, Type 3

Cellular components related to Axenfeld-Rieger Syndrome, Type 3 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 nuclear heterochromatin GO:0005720 8.62 CBX5 FOXC1

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

(show all 21)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.88 COL1A1 FOXC1 PAX6 PITX2
2 transcription from RNA polymerase II promoter GO:0006366 9.85 FOXC1 FOXE3 MEIS2 PAX6 PITX2
3 brain development GO:0007420 9.77 FOXC1 PAX6 PITX2
4 heart development GO:0007507 9.77 FOXC1 PITX2 SH3PXD2B
5 visual perception GO:0007601 9.71 COL1A1 CYP1B1 PAX6
6 skeletal system development GO:0001501 9.65 COL1A1 FOXC1 SH3PXD2B
7 cellular response to epidermal growth factor stimulus GO:0071364 9.58 COL1A1 FOXC1
8 skeletal system morphogenesis GO:0048705 9.57 COL1A1 SH3PXD2B
9 positive regulation of epithelial to mesenchymal transition GO:0010718 9.56 COL1A1 FOXC1
10 lens development in camera-type eye GO:0002088 9.55 FOXE3 PAX6
11 blood vessel development GO:0001568 9.54 COL1A1 FOXC1 PAX6
12 pituitary gland development GO:0021983 9.52 PAX6 PITX2
13 positive regulation of DNA binding GO:0043388 9.51 FOXC1 PITX2
14 collagen fibril organization GO:0030199 9.5 COL1A1 CYP1B1 FOXC1
15 endochondral ossification GO:0001958 9.49 COL1A1 FOXC1
16 camera-type eye development GO:0043010 9.46 FOXC1 FOXE3 PAX6 PITX2
17 cornea development in camera-type eye GO:0061303 9.43 FOXE3 PAX6
18 lacrimal gland development GO:0032808 9.4 FOXC1 PAX6
19 trabecular meshwork development GO:0002930 9.26 CYP1B1 FOXE3
20 iris morphogenesis GO:0061072 9.13 FOXE3 PAX6 PITX2
21 eye development GO:0001654 9.02 FOXC1 FOXE3 MEIS2 PAX6 SH3PXD2B

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

id Name GO ID Score Top Affiliating Genes
1 transcription factor activity, sequence-specific DNA binding GO:0003700 9.72 FOXC1 FOXE3 MEIS2 PAX6 PITX2
2 transcription regulatory region DNA binding GO:0044212 9.58 FOXC1 PAX6 PRDM5
3 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000978 9.56 MEIS2 PAX6 PITX2 PRDM5
4 transcription factor binding GO:0008134 9.46 FOXC1 MEIS2 PAX6 PITX2
5 repressing transcription factor binding GO:0070491 9.37 CBX5 PRDM5
6 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 9.26 FOXC1 FOXE3 PAX6 PITX2
7 sequence-specific DNA binding GO:0043565 9.1 FOXC1 FOXE3 MEIS2 PAX6 PITX2 PRDM5

Sources for Axenfeld-Rieger Syndrome, Type 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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