RIEG3
MCID: AXN010
MIFTS: 50

Axenfeld-Rieger Syndrome, Type 3 (RIEG3)

Categories: 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 57 13 40 73
Axenfeld-Rieger Syndrome Type 3 12 29 6 15
Anterior Segment Mesenchymal Dysgenesis 12 75 73
Anterior Chamber Cleavage Syndrome 57 12 75
Rieg3 57 12 75
Axenfeld-Rieger Anomaly with or Without Cardiac Defects and/or Sensorineural Hearing Loss 12 75
Axenfeld-Rieger Anomaly with Cardiac Defects and/or Sensorineural Hearing Loss 57 75
Axenfeld-Rieger Anomaly 75 29
Rieger Syndrome Type 3 12 75
Rieger Eye Malformation Sequence 73
Axenfeld-Rieger Syndrome 3 75
Rieger Syndrome, Type 3 57
Axenfeld Anomaly 75
Rieger Syndrome 73
Rieger Anomaly 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity


HPO:

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


Classifications:



Summaries for Axenfeld-Rieger Syndrome, Type 3

UniProtKB/Swiss-Prot : 75 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 1 and anterior segment dysgenesis 5. An important gene associated with Axenfeld-Rieger Syndrome, Type 3 is FOXC1 (Forkhead Box C1), and among its related pathways/superpathways are Mesodermal Commitment Pathway and Lung fibrosis. 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.

Description from OMIM: 602482

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 all 47)
# Related Disease Score Top Affiliating Genes
1 anterior segment dysgenesis 1 32.3 PAX6 PITX2
2 anterior segment dysgenesis 5 32.1 CYP1B1 PAX6
3 axenfeld-rieger syndrome 31.9 CYP1B1 FOXC1 PAX6 PITX2
4 anterior segment dysgenesis 31.9 CYP1B1 FOXC1 PAX6 PITX2
5 anterior segment dysgenesis 4 31.8 FOXC1 PITX2
6 early-onset glaucoma 30.0 CYP1B1 PITX2
7 peters-plus syndrome 29.7 CYP1B1 FOXC1 PAX6 PITX2
8 glaucoma 3, primary congenital, a 29.7 CYP1B1 FOXC1 PAX6 PITX2
9 axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities 12.4
10 short syndrome 12.3
11 brain small vessel disease with or without ocular anomalies 11.5
12 anterior segment dysgenesis 3 11.3
13 anterior segment dysgenesis 7 11.1
14 anterior segment dysgenesis 2 11.1
15 anterior segment dysgenesis 6 11.1
16 anterior segment dysgenesis 8 11.1
17 isolated aniridia 10.1 FOXC1 PAX6
18 glaucoma-related pigment dispersion syndrome 10.1 CYP1B1 PITX2
19 persistent hyperplastic primary vitreous 10.0 FOXC1 PITX2
20 chromosome 16p13.3 deletion syndrome, proximal 10.0
21 keloids 10.0
22 axenfeld-rieger syndrome, type 2 10.0 FOXC1 PITX2 RIEG2
23 intestinal atresia 10.0 FOXC1 PAX6 PITX2
24 coloboma, ocular, autosomal dominant 10.0 CYP1B1 PAX6
25 iris disease 10.0 FOXC1 PAX6 PITX2
26 ichthyosis 10.0
27 sensory peripheral neuropathy 10.0
28 neuropathy 10.0
29 hydrophthalmos 10.0 CYP1B1 FOXC1 PITX2
30 axenfeld-rieger syndrome, type 1 10.0 PAX6 PITX2
31 achondroplasia 10.0
32 corneal dystrophy, fuchs endothelial, 1 10.0
33 hypertelorism 10.0
34 wolf-hirschhorn syndrome 10.0
35 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
36 isolated ectopia lentis 10.0
37 fuchs' endothelial dystrophy 10.0
38 chromosome 4p deletion 10.0
39 noonan syndrome 1 10.0
40 ramon syndrome 10.0
41 hypomelanosis of ito 10.0
42 pseudo-turner syndrome 10.0
43 primary congenital glaucoma 10.0 CYP1B1 FOXC1 PITX2
44 juvenile glaucoma 9.9 CYP1B1 FOXC1 PAX6 PITX2
45 aniridia 1 9.8 CYP1B1 FOXC1 PAX6 PITX2
46 cholesteatoma of middle ear 9.7 EGF TGFA
47 adamantinoma of long bones 9.5 CYP1B1 EGF FOXC1 PAX6 PITX2

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 via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
glaucoma
iris hypoplasia
prominent eyes
corectopia
more
Cardiovascular Heart:
atrial septal defect
valvular defects

Head And Neck Face:
flat midface

Head And Neck Ears:
hearing loss, sensorineural

Abdomen External Features:
umbilical defect (redundant periumbilical skin)

Cardiovascular Vascular:
patent ductus arteriosus

Head And Neck Teeth:
hypodontia
small teeth

Neurologic Central Nervous System:
cerebellar vermis hypoplasia

Head And Neck Nose:
saddle nose


Clinical features from OMIM:

602482

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

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 malar flattening 32 HP:0000272
2 hypertelorism 32 HP:0000316
3 sensorineural hearing impairment 32 HP:0000407
4 patent ductus arteriosus 32 HP:0001643
5 concave nasal ridge 32 HP:0011120
6 microdontia 32 HP:0000691
7 atrial septal defect 32 HP:0001631
8 glaucoma 32 HP:0000501
9 hypoplasia of the iris 32 HP:0007676
10 posterior embryotoxon 32 HP:0000627
11 hypodontia 32 HP:0000668
12 midface retrusion 32 HP:0011800
13 proptosis 32 HP:0000520
14 ectopia pupillae 32 HP:0009918
15 cerebellar vermis hypoplasia 32 HP:0001320

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.88 COL1A1 EGF FOXC1 PAX6 PITX2 TGFA
2 endocrine/exocrine gland MP:0005379 9.85 COL1A1 EGF FOXC1 PAX6 PITX2 TGFA
3 craniofacial MP:0005382 9.83 COL1A1 FOXC1 PAX6 PITX2 TGFA
4 integument MP:0010771 9.72 COL1A1 EGF FOXC1 PAX6 TGFA
5 muscle MP:0005369 9.65 COL1A1 FOXC1 PAX6 PITX2 TGFA
6 pigmentation MP:0001186 9.46 COL1A1 FOXC1 PAX6 PITX2
7 reproductive system MP:0005389 9.43 COL1A1 EGF FOXC1 PAX6 PITX2 TGFA
8 vision/eye MP:0005391 9.17 COL1A1 CYP1B1 EGF FOXC1 PAX6 PITX2

Drugs & Therapeutics for Axenfeld-Rieger Syndrome, Type 3

Search Clinical Trials , 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

Anatomical Context for Axenfeld-Rieger Syndrome, Type 3

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

41
Eye, Skin, Brain, Bone, Heart, Endothelial

Publications for Axenfeld-Rieger Syndrome, Type 3

Articles related to Axenfeld-Rieger Syndrome, Type 3:

# Title Authors Year
1
Anterior segment mesenchymal dysgenesis in a large Australian family is associated with the recurrent 17 bp duplication in PITX3. ( 18989383 )
2008
2
Unilateral congenital corneal keloid with anterior segment mesenchymal dysgenesis and subluxated lens: case report and review of literature. ( 17198027 )
2007
3
Bilateral congenital corneal keloids and anterior segment mesenchymal dysgenesis in a case of Rubinstein-Taybi syndrome. ( 11805525 )
2002
4
Anterior segment mesenchymal dysgenesis associated with partial duplication of the short arm of chromosome 2. ( 2013025 )
1991
5
Anterior segment mesenchymal dysgenesis: probable linkage to the MNS blood group on chromosome 4. ( 6978612 )
1982
6
Variable expressivity of autosomal dominant anterior segment mesenchymal dysgenesis in six generations. ( 6801987 )
1982

Variations for Axenfeld-Rieger Syndrome, Type 3

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

75 (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

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

6 (show top 50) (show all 112)
# 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.335T> C (p.Phe112Ser) single nucleotide variant Pathogenic rs104893951 GRCh38 Chromosome 6, 1610780: 1610780
3 FOXC1 NM_001453.2(FOXC1): c.67C> T (p.Gln23Ter) single nucleotide variant Pathogenic rs104893952 GRCh37 Chromosome 6, 1610747: 1610747
4 FOXC1 NM_001453.2(FOXC1): c.67C> T (p.Gln23Ter) single nucleotide variant Pathogenic rs104893952 GRCh38 Chromosome 6, 1610512: 1610512
5 FOXC1 NM_001453.2(FOXC1): c.245G> C (p.Ser82Thr) single nucleotide variant Pathogenic rs104893953 GRCh37 Chromosome 6, 1610925: 1610925
6 FOXC1 NM_001453.2(FOXC1): c.245G> C (p.Ser82Thr) single nucleotide variant Pathogenic rs104893953 GRCh38 Chromosome 6, 1610690: 1610690
7 FOXC1 NM_001453.2(FOXC1): c.388C> T (p.Leu130Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs121909338 GRCh37 Chromosome 6, 1611068: 1611068
8 FOXC1 NM_001453.2(FOXC1): c.388C> T (p.Leu130Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs121909338 GRCh38 Chromosome 6, 1610833: 1610833
9 FOXC1 NM_001453.2(FOXC1): c.358C> T (p.Gln120Ter) single nucleotide variant Pathogenic rs121909339 GRCh37 Chromosome 6, 1611038: 1611038
10 FOXC1 NM_001453.2(FOXC1): c.358C> T (p.Gln120Ter) single nucleotide variant Pathogenic rs121909339 GRCh38 Chromosome 6, 1610803: 1610803
11 FOXC1 NM_001453.2(FOXC1): c.889C> T (p.Pro297Ser) single nucleotide variant Benign rs79691946 GRCh37 Chromosome 6, 1611569: 1611569
12 FOXC1 NM_001453.2(FOXC1): c.889C> T (p.Pro297Ser) single nucleotide variant Benign rs79691946 GRCh38 Chromosome 6, 1611334: 1611334
13 FREM1 NM_144966.5(FREM1): c.1493G> A (p.Arg498Gln) single nucleotide variant Likely benign rs184394424 GRCh37 Chromosome 9, 14842559: 14842559
14 FREM1 NM_144966.5(FREM1): c.1493G> A (p.Arg498Gln) single nucleotide variant Likely benign rs184394424 GRCh38 Chromosome 9, 14842561: 14842561
15 FOXC1 NM_001453.2(FOXC1): c.141C> G (p.Tyr47Ter) single nucleotide variant Pathogenic rs372857241 GRCh37 Chromosome 6, 1610821: 1610821
16 FOXC1 NM_001453.2(FOXC1): c.141C> G (p.Tyr47Ter) single nucleotide variant Pathogenic rs372857241 GRCh38 Chromosome 6, 1610586: 1610586
17 PTCH1 NM_000264.4(PTCH1): c.3947A> G (p.Tyr1316Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs147067171 GRCh37 Chromosome 9, 98209591: 98209591
18 PTCH1 NM_000264.4(PTCH1): c.3947A> G (p.Tyr1316Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs147067171 GRCh38 Chromosome 9, 95447309: 95447309
19 PTCH1 NM_000264.4(PTCH1): c.3889C> T (p.Arg1297Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs372027952 GRCh37 Chromosome 9, 98209649: 98209649
20 PTCH1 NM_000264.4(PTCH1): c.3889C> T (p.Arg1297Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs372027952 GRCh38 Chromosome 9, 95447367: 95447367
21 FOXC1 NM_001453.2(FOXC1): c.405C> T (p.Cys135=) single nucleotide variant Benign rs2230096 GRCh37 Chromosome 6, 1611085: 1611085
22 FOXC1 NM_001453.2(FOXC1): c.405C> T (p.Cys135=) single nucleotide variant Benign rs2230096 GRCh38 Chromosome 6, 1610850: 1610850
23 FOXC1 NM_001453.2(FOXC1): c.502C> T (p.Leu168=) single nucleotide variant Benign rs148739656 GRCh37 Chromosome 6, 1611182: 1611182
24 FOXC1 NM_001453.2(FOXC1): c.502C> T (p.Leu168=) single nucleotide variant Benign rs148739656 GRCh38 Chromosome 6, 1610947: 1610947
25 FOXC1 NM_001453.2(FOXC1): c.1563T> G (p.Ser521=) single nucleotide variant Benign rs73406891 GRCh37 Chromosome 6, 1612243: 1612243
26 FOXC1 NM_001453.2(FOXC1): c.1563T> G (p.Ser521=) single nucleotide variant Benign rs73406891 GRCh38 Chromosome 6, 1612008: 1612008
27 FRAS1 NM_001166133.1(FRAS1): c.3700G> A (p.Ala1234Thr) single nucleotide variant Likely benign rs199940702 GRCh37 Chromosome 4, 79308580: 79308580
28 FRAS1 NM_001166133.1(FRAS1): c.3700G> A (p.Ala1234Thr) single nucleotide variant Likely benign rs199940702 GRCh38 Chromosome 4, 78387426: 78387426
29 DACT1 NM_016651.5(DACT1): c.2010G> C (p.Lys670Asn) single nucleotide variant Likely benign rs754847137 GRCh38 Chromosome 14, 58646633: 58646633
30 DACT1 NM_016651.5(DACT1): c.2010G> C (p.Lys670Asn) single nucleotide variant Likely benign rs754847137 GRCh37 Chromosome 14, 59113351: 59113351
31 CHST5 NM_024533.4(CHST5): c.737T> C (p.Ile246Thr) single nucleotide variant Likely benign rs869025261 GRCh38 Chromosome 16, 75529648: 75529648
32 CHST5 NM_024533.4(CHST5): c.737T> C (p.Ile246Thr) single nucleotide variant Likely benign rs869025261 GRCh37 Chromosome 16, 75563546: 75563546
33 FOXC1 NM_001453.2(FOXC1): c.256C> T (p.Leu86Phe) single nucleotide variant Pathogenic rs886039568 GRCh37 Chromosome 6, 1610936: 1610936
34 FOXC1 NM_001453.2(FOXC1): c.256C> T (p.Leu86Phe) single nucleotide variant Pathogenic rs886039568 GRCh38 Chromosome 6, 1610701: 1610701
35 FOXC1 NM_001453.2(FOXC1): c.290dupA (p.Lys98Glufs) duplication Pathogenic rs886044143 GRCh37 Chromosome 6, 1610970: 1610970
36 FOXC1 NM_001453.2(FOXC1): c.290dupA (p.Lys98Glufs) duplication Pathogenic rs886044143 GRCh38 Chromosome 6, 1610735: 1610735
37 FOXC1 NC_000006.12: g.(?_1610445)_(1612107_?)del deletion Pathogenic GRCh38 Chromosome 6, 1610445: 1612107
38 FOXC1 NC_000006.12: g.(?_1610445)_(1612107_?)del deletion Pathogenic GRCh37 Chromosome 6, 1610680: 1612342
39 FOXC1 NM_001453.2(FOXC1): c.100_109delGGGGGCGGCT (p.Gly34Thrfs) deletion Pathogenic rs1057519471 GRCh37 Chromosome 6, 1610780: 1610789
40 FOXC1 NM_001453.2(FOXC1): c.100_109delGGGGGCGGCT (p.Gly34Thrfs) deletion Pathogenic rs1057519471 GRCh38 Chromosome 6, 1610545: 1610554
41 FOXC1 NM_001453.2(FOXC1): c.116_123delCCATGCCG (p.Ala39Glyfs) deletion Pathogenic rs1057519472 GRCh38 Chromosome 6, 1610561: 1610568
42 FOXC1 NM_001453.2(FOXC1): c.116_123delCCATGCCG (p.Ala39Glyfs) deletion Pathogenic rs1057519472 GRCh37 Chromosome 6, 1610796: 1610803
43 FOXC1 NM_001453.2(FOXC1): c.268G> A (p.Ala90Thr) single nucleotide variant Uncertain significance rs1057519473 GRCh38 Chromosome 6, 1610713: 1610713
44 FOXC1 NM_001453.2(FOXC1): c.268G> A (p.Ala90Thr) single nucleotide variant Uncertain significance rs1057519473 GRCh37 Chromosome 6, 1610948: 1610948
45 FOXC1 NM_001453.2(FOXC1): c.269C> A (p.Ala90Asp) single nucleotide variant Uncertain significance rs1057519474 GRCh37 Chromosome 6, 1610949: 1610949
46 FOXC1 NM_001453.2(FOXC1): c.269C> A (p.Ala90Asp) single nucleotide variant Uncertain significance rs1057519474 GRCh38 Chromosome 6, 1610714: 1610714
47 FOXC1 NM_001453.2(FOXC1): c.316C> T (p.Gln106Ter) single nucleotide variant Pathogenic rs1057519475 GRCh38 Chromosome 6, 1610761: 1610761
48 FOXC1 NM_001453.2(FOXC1): c.316C> T (p.Gln106Ter) single nucleotide variant Pathogenic rs1057519475 GRCh37 Chromosome 6, 1610996: 1610996
49 FOXC1 NM_001453.2(FOXC1): c.457A> C (p.Thr153Pro) single nucleotide variant Uncertain significance rs1057519476 GRCh37 Chromosome 6, 1611137: 1611137
50 FOXC1 NM_001453.2(FOXC1): c.457A> C (p.Thr153Pro) single nucleotide variant Uncertain significance rs1057519476 GRCh38 Chromosome 6, 1610902: 1610902

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
Show member pathways
11.61 FOXC1 PAX6 PITX2
2 10.96 EGF TGFA
3 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:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum-Golgi intermediate compartment membrane GO:0033116 8.62 TAP2 TGFA

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.8 COL1A1 EGF FOXC1 PAX6
2 visual perception GO:0007601 9.69 COL1A1 CYP1B1 PAX6
3 epidermal growth factor receptor signaling pathway GO:0007173 9.57 EGF TGFA
4 cellular response to epidermal growth factor stimulus GO:0071364 9.56 COL1A1 FOXC1
5 positive regulation of epithelial to mesenchymal transition GO:0010718 9.55 COL1A1 FOXC1
6 eye development GO:0001654 9.54 FOXC1 PAX6
7 positive regulation of DNA binding GO:0043388 9.52 EGF FOXC1
8 positive regulation of mitotic nuclear division GO:0045840 9.48 EGF TGFA
9 endochondral ossification GO:0001958 9.46 COL1A1 FOXC1
10 angiogenesis GO:0001525 9.46 CYP1B1 EGF FOXC1 TGFA
11 mammary gland alveolus development GO:0060749 9.43 EGF TGFA
12 camera-type eye development GO:0043010 9.43 FOXC1 PAX6 PITX2
13 positive regulation of epidermal growth factor-activated receptor activity GO:0045741 9.4 EGF TGFA
14 iris morphogenesis GO:0061072 9.37 PAX6 PITX2
15 lacrimal gland development GO:0032808 9.32 FOXC1 PAX6
16 blood vessel development GO:0001568 9.13 COL1A1 FOXC1 PAX6
17 collagen fibril organization GO:0030199 8.8 COL1A1 CYP1B1 FOXC1

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

# Name GO ID Score Top Affiliating Genes
1 transcription factor binding GO:0008134 9.13 FOXC1 PAX6 PITX2
2 epidermal growth factor receptor binding GO:0005154 8.62 EGF TGFA

Sources for Axenfeld-Rieger Syndrome, Type 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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