RIEG3
MCID: AXN010
MIFTS: 50

Axenfeld-Rieger Syndrome, Type 3 (RIEG3)

Categories: Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Skin diseases

Aliases & Classifications for Axenfeld-Rieger Syndrome, Type 3

MalaCards integrated aliases for Axenfeld-Rieger Syndrome, Type 3:

Name: Axenfeld-Rieger Syndrome, Type 3 56 13 39 71
Axenfeld-Rieger Syndrome Type 3 12 29 6 15
Anterior Segment Mesenchymal Dysgenesis 12 73 71
Anterior Chamber Cleavage Syndrome 56 12 73
Rieg3 56 12 73
Axenfeld-Rieger Anomaly with or Without Cardiac Defects and/or Sensorineural Hearing Loss 12 73
Axenfeld-Rieger Anomaly with Cardiac Defects and/or Sensorineural Hearing Loss 56 73
Axenfeld-Rieger Anomaly 73 29
Rieger Syndrome Type 3 12 73
Axenfeld Anomaly 73 29
Rieger Eye Malformation Sequence 71
Axenfeld-Rieger Syndrome 3 73
Rieger Syndrome, Type 3 56
Rieger Syndrome 71
Rieger Anomaly 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity


HPO:

31
axenfeld-rieger syndrome, type 3:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



External Ids:

Disease Ontology 12 DOID:0110122
OMIM 56 602482
OMIM Phenotypic Series 56 PS180500
ICD10 32 Q13.8
UMLS 71 C0265341 C1862839 C2678503 more

Summaries for Axenfeld-Rieger Syndrome, Type 3

UniProtKB/Swiss-Prot : 73 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.

MalaCards based summary : Axenfeld-Rieger Syndrome, Type 3, also known as axenfeld-rieger syndrome type 3, is related to anterior segment dysgenesis 5 and anterior segment dysgenesis 4. 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 brain, and related phenotypes are malar flattening and hypertelorism

Disease Ontology : 12 An Axenfeld-Rieger syndrome that has material basis in heterozygous mutation in the FOXC1 gene on chromosome 6p25.

More information from OMIM: 602482 PS180500

Related Diseases for Axenfeld-Rieger Syndrome, Type 3

Diseases in the Axenfeld-Rieger Syndrome family:

Axenfeld-Rieger Syndrome, Type 1 Axenfeld-Rieger Syndrome, Type 2
Axenfeld-Rieger Syndrome, Type 3

Diseases related to Axenfeld-Rieger Syndrome, Type 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 105)
# Related Disease Score Top Affiliating Genes
1 anterior segment dysgenesis 5 32.7 PAX6 CYP1B1
2 anterior segment dysgenesis 4 32.3 PITX2 FOXC1
3 anterior segment dysgenesis 32.1 PITX2 PAX6 FOXE3 FOXC1 CYP1B1
4 axenfeld-rieger syndrome 31.2 PITX2 PAX6 KERA FOXF2 FOXE3 FOXC1
5 early-onset glaucoma 30.5 PITX2 CYP1B1
6 atrial heart septal defect 30.3 TBX20 PITX2 FOXC1
7 intraocular pressure quantitative trait locus 30.2 PITX2 PAX6 FOXC1 CYP1B1 COCH
8 cornea plana 30.1 PITX2 KERA FOXC1
9 corneal edema 30.0 KERA CYP1B1
10 axenfeld-rieger syndrome, type 1 29.9 PITX2 PAX6 FOXE3 FOXC1
11 peters-plus syndrome 29.9 PITX2 PAX6 FOXE3 FOXC1 CYP1B1
12 juvenile glaucoma 29.7 PITX2 PAX6 FOXE3 FOXC1 CYP1B1
13 aniridia 1 29.6 PITX2 PAX6 FOXE3 FOXC1 CYP1B1
14 coloboma of macula 29.6 PITX2 PAX6 FOXE3 FOXC1 CYP1B1
15 short syndrome 12.6
16 axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities 12.5
17 brain small vessel disease 1 with or without ocular anomalies 11.9
18 anterior segment dysgenesis 1 11.6
19 ramon syndrome 11.6
20 col4a1-related brain small-vessel disease 11.5
21 anterior segment dysgenesis 3 11.5
22 angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 11.4
23 anterior segment dysgenesis 7 11.2
24 anterior segment dysgenesis 2 11.2
25 anterior segment dysgenesis 6 11.2
26 anterior segment dysgenesis 8 11.2
27 axenfeld-rieger syndrome, type 2 10.4 PITX2 FOXC1
28 isolated aniridia 10.4 PAX6 FOXC1
29 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
30 congenital hypopituitarism 10.3 PITX2 PAX6
31 ring chromosome 10.3 FOXC1 COL1A1
32 microphthalmia, isolated 2 10.3 PAX6 CYP1B1
33 congenital aphakia 10.3 PAX6 FOXE3
34 coloboma, ocular, autosomal dominant 10.3 PAX6 CYP1B1
35 acquired color blindness 10.2 PITX2 PAX6 FOXC1
36 sensorineural hearing loss 10.2
37 hydrocephalus 10.2
38 heart septal defect 10.2
39 intestinal atresia 10.2 PITX2 PAX6 FOXC1
40 megalocornea 10.2 PITX2 FOXC1 CYP1B1
41 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 10.2 PITX2 PAX6 FOXC1
42 cataract 10.2
43 keloid disorder 10.2
44 chromosome 6pter-p24 deletion syndrome 10.1
45 refractive error 10.1
46 corneal ulcer 10.1 KERA CYP1B1
47 hydrophthalmos 10.0 PITX2 PAX6 FOXC1 CYP1B1
48 char syndrome 10.0 TBX20 PITX2
49 hypertelorism 10.0
50 yemenite deaf-blind hypopigmentation syndrome 10.0

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

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

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 malar flattening 31 HP:0000272
2 hypertelorism 31 HP:0000316
3 sensorineural hearing impairment 31 HP:0000407
4 midface retrusion 31 HP:0011800
5 patent ductus arteriosus 31 HP:0001643
6 concave nasal ridge 31 HP:0011120
7 microdontia 31 HP:0000691
8 atrial septal defect 31 HP:0001631
9 proptosis 31 HP:0000520
10 cerebellar vermis hypoplasia 31 HP:0001320
11 glaucoma 31 HP:0000501
12 hypoplasia of the iris 31 HP:0007676
13 posterior embryotoxon 31 HP:0000627
14 hypodontia 31 HP:0000668
15 ectopia pupillae 31 HP:0009918

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
glaucoma
iris hypoplasia
prominent eyes
corectopia
more
Cardiovascular Heart:
atrial septal defect
valvular defects

Head And Neck Teeth:
hypodontia
small teeth

Head And Neck Ears:
hearing loss, sensorineural

Abdomen External Features:
umbilical defect (redundant periumbilical skin)

Cardiovascular Vascular:
patent ductus arteriosus

Neurologic Central Nervous System:
cerebellar vermis hypoplasia

Head And Neck Face:
flat midface

Head And Neck Nose:
saddle nose

Clinical features from OMIM:

602482

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.8 COL1A1 FOXC1 FOXF2 GMDS PAX6 PITX2
2 muscle MP:0005369 9.73 COL1A1 FOXC1 MPZL3 PAX6 PITX2 TBX20
3 skeleton MP:0005390 9.56 COL1A1 FOXC1 FOXF2 GMDS KERA MPZL3
4 pigmentation MP:0001186 9.55 COL1A1 FOXC1 MPZL3 PAX6 PITX2
5 vision/eye MP:0005391 9.17 COL1A1 CYP1B1 FOXC1 FOXF2 KERA PAX6

Drugs & Therapeutics for Axenfeld-Rieger Syndrome, Type 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Genetic Findings in a Chinese Family With Axenfeld-Rieger Syndrom Completed NCT03009188

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

Genetic Tests for Axenfeld-Rieger Syndrome, Type 3

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

# Genetic test Affiliating Genes
1 Axenfeld-Rieger Anomaly 29
2 Axenfeld-Rieger Syndrome Type 3 29 FOXC1
3 Axenfeld Anomaly 29

Anatomical Context for Axenfeld-Rieger Syndrome, Type 3

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

40
Eye, Skin, Brain, Heart, Pituitary, Lung, T Cells

Publications for Axenfeld-Rieger Syndrome, Type 3

Articles related to Axenfeld-Rieger Syndrome, Type 3:

(show top 50) (show all 55)
# Title Authors PMID Year
1
A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene. 54 56 6
12614756 2003
2
FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation. 56 6
19668217 2009
3
A novel mutation in the FOXC1 gene in a family with Axenfeld-Rieger syndrome and Peters' anomaly. 56 6
18498376 2008
4
Analyses of a novel L130F missense mutation in FOXC1. 56 6
17210863 2007
5
A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye. 56 6
11170889 2001
6
Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25. 56 6
10713890 2000
7
Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly. 56 6
9792859 1998
8
The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25. 56 6
9620769 1998
9
Autosomal dominant Axenfeld-Rieger anomaly maps to 6p25. 56 6
9326342 1997
10
A novel mechanistic spectrum underlies glaucoma-associated chromosome 6p25 copy number variation. 56
18694899 2008
11
Molecular and developmental mechanisms of anterior segment dysgenesis. 56
17914434 2007
12
Genotype-phenotype correlations in Axenfeld-Rieger malformation and glaucoma patients with FOXC1 and PITX2 mutations. 56
17197537 2007
13
Familial Axenfeld-Rieger anomaly, cardiac malformations, and sensorineural hearing loss: a provisionally unique genetic syndrome? 56
12210347 2002
14
Ocular developmental abnormalities and glaucoma associated with interstitial 6p25 duplications and deletions. 56
12036988 2002
15
Anterior segment dysgenesis and the developmental glaucomas are complex traits. 56
12015278 2002
16
Axenfeld-Rieger anomaly, hypertelorism, clinodactyly, and cardiac anomalies in sibs with an unbalanced translocation der(6)t(6;8). 56
11343302 2001
17
Axenfeld-Rieger syndrome in the age of molecular genetics. 56
11004268 2000
18
An interstitial deletion of 6p24-p25 proximal to the FKHL7 locus and including AP-2alpha that affects anterior eye chamber development. 56
10507730 1999
19
Familial Axenfeld-Rieger anomaly, atrial septal defect, and sensorineural hearing loss: a possible new genetic syndrome. 56
9445211 1998
20
Ring chromosome 6 in a child with anterior segment dysgenesis and review of its overlap with other FOXC1 deletion phenotypes. 61
30225942 2019
21
Rieger syndrome is not associated with PAX6 deletion: a correction to Acta Ophthalmol Scand 2001: 79: 201-203. 54
19764918 2009
22
Cytogenetically invisible microdeletions involving PITX2 in Rieger syndrome. 54
17850355 2007
23
Nuclear factor 1 and T-cell factor/LEF recognition elements regulate Pitx2 transcription in pituitary development. 54
17562863 2007
24
[Research advances in tooth agenesis]. 54
17304318 2007
25
Novel CYP1B1 and known PAX6 mutations in anterior segment dysgenesis (ASD). 54
17106362 2006
26
Nestin-Cre mediated deletion of Pitx2 in the mouse. 54
16823861 2006
27
Primary congenital glaucoma and Rieger's anomaly: extended haplotypes reveal founder effects for eight distinct CYP1B1 mutations. 54
16735994 2006
28
Rieger's anomaly and other ocular abnormalities in association with osteogenesis imperfecta and a COL1A1 mutation. 54
16272059 2005
29
Solution structure of the K50 class homeodomain PITX2 bound to DNA and implications for mutations that cause Rieger syndrome. 54
15895993 2005
30
PITX2 gain-of-function in Rieger syndrome eye model. 54
15509533 2004
31
Mutations in PITX2 may contribute to cases of omphalocele and VATER-like syndromes. 54
15378534 2004
32
Analysis of two translocation breakpoints and identification of a negative regulatory element in patients with Rieger's syndrome. 54
14991915 2004
33
Novel identification of a four-base-pair deletion mutation in PITX2 in a Rieger syndrome family. 54
14630904 2003
34
Four novel mutations in the PITX2 gene in patients with Axenfeld-Rieger syndrome. 54
12381896 2002
35
Genetic analysis of PITX2 and FOXC1 in Rieger Syndrome patients from Brazil. 54
11821690 2002
36
Identification of a dominant negative homeodomain mutation in Rieger syndrome. 54
11301317 2001
37
Rieger syndrome is associated with PAX6 deletion. 54
11284764 2001
38
Rieger syndrome: a clinical, molecular, and biochemical analysis. 54
11092457 2000
39
Phenotypic variability and asymmetry of Rieger syndrome associated with PITX2 mutations. 54
10937553 2000
40
The Pitx2 protein in mouse development. 54
10822271 2000
41
The human BARX2 gene: genomic structure, chromosomal localization, and single nucleotide polymorphisms. 54
10644443 1999
42
Multifunctional role of the Pitx2 homeodomain protein C-terminal tail. 54
10490637 1999
43
Dosage requirement of Pitx2 for development of multiple organs. 54
10498698 1999
44
Pitx2 regulates lung asymmetry, cardiac positioning and pituitary and tooth morphogenesis. 54
10499586 1999
45
Glaucoma genetics: where are we? Where will we go? 54
10537763 1999
46
Threading analysis of the Pitx2 homeodomain: predicted structural effects of mutations causing Rieger syndrome and iridogoniodysgenesis. 54
10502778 1999
47
The PTX family of homeodomain transcription factors during pituitary developments. 54
9722165 1998
48
Isolation of a new homeobox gene belonging to the Pitx/Rieg family: expression during lens development and mapping to the aphakia region on mouse chromosome 19. 54
9328475 1997
49
Expression patterns of Brx1 (Rieg gene), Sonic hedgehog, Nkx2.2, Dlx1 and Arx during zona limitans intrathalamica and embryonic ventral lateral geniculate nuclear formation. 54
9347917 1997
50
Mouse Otlx2/RIEG expression in the odontogenic epithelium precedes tooth initiation and requires mesenchyme-derived signals for its maintenance. 54
9299120 1997

Variations for Axenfeld-Rieger Syndrome, Type 3

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

6 (show top 50) (show all 55) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FOXC1 NM_001453.3(FOXC1):c.358C>T (p.Gln120Ter)SNV Pathogenic 8461 rs121909339 6:1611038-1611038 6:1610803-1610803
2 FOXC1 NM_001453.3(FOXC1):c.335T>C (p.Phe112Ser)SNV Pathogenic 8454 rs104893951 6:1611015-1611015 6:1610780-1610780
3 FOXC1 NM_001453.3(FOXC1):c.67C>T (p.Gln23Ter)SNV Pathogenic 8455 rs104893952 6:1610747-1610747 6:1610512-1610512
4 FOXC1 NM_001453.3(FOXC1):c.245G>C (p.Ser82Thr)SNV Pathogenic 8458 rs104893953 6:1610925-1610925 6:1610690-1610690
5 FOXC1 NM_001453.3(FOXC1):c.141C>G (p.Tyr47Ter)SNV Pathogenic 100687 rs372857241 6:1610821-1610821 6:1610586-1610586
6 FOXC1 NM_001453.3(FOXC1):c.100_109del (p.Gly34fs)deletion Pathogenic 375420 rs1057519471 6:1610780-1610789 6:1610545-1610554
7 FOXC1 NM_001453.3(FOXC1):c.116_123del (p.Ala39fs)deletion Pathogenic 375421 rs1057519472 6:1610793-1610800 6:1610558-1610565
8 FOXC1 NC_000006.11:g.(?_1610680)_(1612342_?)deldeletion Pathogenic 375435 6:1610680-1612342 6:1610445-1612107
9 FOXC1 NM_001453.3(FOXC1):c.256C>T (p.Leu86Phe)SNV Pathogenic 265478 rs886039568 6:1610936-1610936 6:1610701-1610701
10 FOXC1 NM_001453.3(FOXC1):c.316C>T (p.Gln106Ter)SNV Pathogenic 375424 rs1057519475 6:1610996-1610996 6:1610761-1610761
11 FOXC1 NM_001453.3(FOXC1):c.487G>T (p.Glu163Ter)SNV Pathogenic 375426 rs1057519477 6:1611167-1611167 6:1610932-1610932
12 FOXC1 NM_001453.3(FOXC1):c.599_617del (p.Gln200fs)deletion Pathogenic 375427 rs1057519478 6:1611273-1611291 6:1611038-1611056
13 FOXC1 NM_001453.3(FOXC1):c.666_681del (p.Ile223fs)deletion Pathogenic 375428 rs1057519479 6:1611345-1611360 6:1611110-1611125
14 FOXC1 NM_001453.3(FOXC1):c.718_719del (p.Leu240fs)deletion Pathogenic 375429 rs1057519480 6:1611398-1611399 6:1611163-1611164
15 FOXC1 NM_001453.3(FOXC1):c.925_949del (p.Ser309fs)deletion Pathogenic 375430 rs1057519481 6:1611604-1611628 6:1611369-1611393
16 FOXC1 NM_001453.3(FOXC1):c.1265C>A (p.Ser422Ter)SNV Pathogenic 375431 rs1057519482 6:1611945-1611945 6:1611710-1611710
17 FOXC1 NM_001453.3(FOXC1):c.1491C>G (p.Tyr497Ter)SNV Pathogenic 375432 rs760676014 6:1612171-1612171 6:1611936-1611936
18 der(6)t(6;10)(p25.2;q26.3)Translocation Pathogenic 375433
19 FOXC1 GRCh37/hg19 6p25.3(chr6:951385-1832936)x3copy number gain Pathogenic 375434 6:951385-1832936
20 PITX2 NM_000325.6(PITX2):c.307C>T (p.Gln103Ter)SNV Pathogenic 492756 rs1553922901 4:111542424-111542424 4:110621268-110621268
21 FOXC1 NM_001453.3(FOXC1):c.409_411del (p.Val137del)deletion Pathogenic 495292 rs1554100963 6:1611087-1611089 6:1610852-1610854
22 FOXC1 NM_001453.3(FOXC1):c.380G>A (p.Arg127His)SNV Pathogenic 537389 rs1085307884 6:1611060-1611060 6:1610825-1610825
23 FOXC1 NM_001453.3(FOXC1):c.957del (p.Ser320fs)deletion Pathogenic 537391 rs1241813534 6:1611633-1611633 6:1611398-1611398
24 FOXC1 NM_001453.3(FOXC1):c.192C>G (p.Tyr64Ter)SNV Pathogenic 430705 rs368260972 6:1610872-1610872 6:1610637-1610637
25 FOXC1 NC_000006.11:g.(?_1610661)_(1613076_?)deldeletion Pathogenic 469647 6:1610426-1612841
26 subset of 21 genes: DIP2A deletion Pathogenic 560066 21:46363553-48080926
27 FOXC1 NM_001453.3(FOXC1):c.1_*1790del (p.Met1fs)deletion Pathogenic 568112 6:1610681-1614132 6:1610446-1613897
28 FOXC1 NM_001453.3(FOXC1):c.504_506GCG[6] (p.Arg173dup)short repeat Likely pathogenic 570813 rs1183655796 6:1611183-1611184 6:1610948-1610949
29 FOXC1 NM_001453.3(FOXC1):c.361G>A (p.Gly121Ser)SNV Likely pathogenic 666565 6:1611041-1611041 6:1610806-1610806
30 FOXC1 NM_001453.3(FOXC1):c.1142_1144delinsGCGC (p.Ala381fs)indel Likely pathogenic 537387 rs1554101058 6:1611822-1611824 6:1611587-1611589
31 FOXC1 NM_001453.3(FOXC1):c.380G>T (p.Arg127Leu)SNV Likely pathogenic 426978 rs1085307884 6:1611060-1611060 6:1610825-1610825
32 46;XY;t(2;4)(p23;q27)dnTranslocation Likely pathogenic 268022
33 PTCH1 NM_001083602.2(PTCH1):c.3749A>G (p.Tyr1250Cys)SNV Conflicting interpretations of pathogenicity 132723 rs147067171 9:98209591-98209591 9:95447309-95447309
34 PTCH1 NM_001083602.2(PTCH1):c.3691C>T (p.Arg1231Trp)SNV Conflicting interpretations of pathogenicity 132738 rs372027952 9:98209649-98209649 9:95447367-95447367
35 FOXC1 NM_001453.3(FOXC1):c.388C>T (p.Leu130Phe)SNV Conflicting interpretations of pathogenicity 8460 rs121909338 6:1611068-1611068 6:1610833-1610833
36 FREM1 NM_144966.5(FREM1):c.1493G>A (p.Arg498Gln)SNV Conflicting interpretations of pathogenicity 30767 rs184394424 9:14842559-14842559 9:14842561-14842561
37 FOXC1 NM_001453.3(FOXC1):c.1064C>T (p.Pro355Leu)SNV Uncertain significance 286661 rs886043447 6:1611744-1611744 6:1611509-1611509
38 FOXC1 NM_001453.3(FOXC1):c.457A>C (p.Thr153Pro)SNV Uncertain significance 375425 rs1057519476 6:1611137-1611137 6:1610902-1610902
39 FOXC1 NM_001453.3(FOXC1):c.268G>A (p.Ala90Thr)SNV Uncertain significance 375422 rs1057519473 6:1610948-1610948 6:1610713-1610713
40 FOXC1 NM_001453.3(FOXC1):c.269C>A (p.Ala90Asp)SNV Uncertain significance 375423 rs1057519474 6:1610949-1610949 6:1610714-1610714
41 FOXC1 NM_001453.3(FOXC1):c.1154G>A (p.Gly385Glu)SNV Uncertain significance 537390 rs1215019381 6:1611834-1611834 6:1611599-1611599
42 FOXC1 NM_001453.3(FOXC1):c.235C>T (p.Pro79Ser)SNV Uncertain significance 537388 rs1554100945 6:1610915-1610915 6:1610680-1610680
43 FOXC1 NM_001453.3(FOXC1):c.356A>G (p.Lys119Arg)SNV Uncertain significance 537386 rs759264099 6:1611036-1611036 6:1610801-1610801
44 FOXC1 NM_001453.3(FOXC1):c.807C>G (p.Ser269Arg)SNV Uncertain significance 469654 rs1277775861 6:1611487-1611487 6:1611252-1611252
45 FOXC1 NM_001453.3(FOXC1):c.1370A>G (p.Gln457Arg)SNV Uncertain significance 579392 rs908841297 6:1612050-1612050 6:1611815-1611815
46 FOXC1 NM_001453.3(FOXC1):c.532G>C (p.Asp178His)SNV Uncertain significance 469653 rs751970827 6:1611212-1611212 6:1610977-1610977
47 FOXC1 NM_001453.3(FOXC1):c.1051G>C (p.Gly351Arg)SNV Uncertain significance 469648 rs897755884 6:1611731-1611731 6:1611496-1611496
48 FOXC1 NM_001453.3(FOXC1):c.344A>G (p.Tyr115Cys)SNV Uncertain significance 640532 6:1611024-1611024 6:1610789-1610789
49 FOXC1 NM_001453.3(FOXC1):c.486C>G (p.Phe162Leu)SNV Uncertain significance 651309 6:1611166-1611166 6:1610931-1610931
50 FOXC1 NM_001453.3(FOXC1):c.508C>T (p.Arg170Trp)SNV Uncertain significance 660083 6:1611188-1611188 6:1610953-1610953

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

73 (show all 23)
# 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 rs886039568
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 rs483352810
21 FOXC1 p.Arg127Leu VAR_078504 rs108530788
22 FOXC1 p.His128Arg VAR_078505
23 FOXC1 p.Cys135Tyr VAR_078507

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:

# Super pathways Score Top Affiliating Genes
1 10.46 TBX20 PITX2 FOXC1

GO Terms for Axenfeld-Rieger Syndrome, Type 3

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

# Name GO ID Score Top Affiliating Genes
1 nuclear chromatin GO:0000790 9.1 TBX20 PITX2 PAX6 FOXF2 FOXE3 FOXC1

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.03 TBX20 PITX2 PAX6 FOXF2 FOXE3 FOXC1
2 positive regulation of transcription, DNA-templated GO:0045893 9.89 TBX20 PAX6 FOXF2 FOXC1 COL1A1
3 visual perception GO:0007601 9.73 PAX6 KERA CYP1B1 COL1A1
4 anatomical structure morphogenesis GO:0009653 9.7 PITX2 FOXE3 FOXC1
5 blood vessel development GO:0001568 9.58 PAX6 FOXC1 COL1A1
6 endochondral ossification GO:0001958 9.55 FOXC1 COL1A1
7 embryonic heart tube development GO:0035050 9.54 TBX20 FOXC1
8 collagen fibril organization GO:0030199 9.54 FOXC1 CYP1B1 COL1A1
9 embryonic camera-type eye morphogenesis GO:0048596 9.51 PAX6 FOXF2
10 eye development GO:0001654 9.5 PAX6 FOXE3 FOXC1
11 positive regulation of core promoter binding GO:1904798 9.48 PAX6 FOXC1
12 lacrimal gland development GO:0032808 9.46 PAX6 FOXC1
13 camera-type eye development GO:0043010 9.46 PITX2 PAX6 FOXE3 FOXC1
14 trabecular meshwork development GO:0002930 9.26 FOXE3 CYP1B1
15 cornea development in camera-type eye GO:0061303 9.13 PAX6 KERA FOXE3
16 iris morphogenesis GO:0061072 8.8 PITX2 PAX6 FOXE3

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.62 TBX20 PAX6 FOXF2 FOXC1
2 transcription factor binding GO:0008134 9.56 PITX2 PAX6 FOXF2 FOXC1
3 sequence-specific DNA binding GO:0043565 9.55 PITX2 PAX6 FOXF2 FOXE3 FOXC1
4 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.43 TBX20 PITX2 PAX6 FOXF2 FOXE3 FOXC1
5 DNA-binding transcription factor activity GO:0003700 9.1 TBX20 PITX2 PAX6 FOXF2 FOXE3 FOXC1

Sources for Axenfeld-Rieger Syndrome, Type 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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