RIEG1
MCID: AXN009
MIFTS: 51

Axenfeld-Rieger Syndrome, Type 1 (RIEG1)

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

Aliases & Classifications for Axenfeld-Rieger Syndrome, Type 1

MalaCards integrated aliases for Axenfeld-Rieger Syndrome, Type 1:

Name: Axenfeld-Rieger Syndrome, Type 1 58 13 41 74
Axenfeld-Rieger Syndrome Type 1 12 30 6 15
Rieg1 58 12 76
Rieg 58 76 56
Rieger Syndrome Type 1 12 76
Rgs 58 76
Iridogoniodysgenesis with Somatic Anomalies 76
Axenfeld-Rieger Syndrome 1 76
Rieger Syndrome, Type 1 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
variable expressivity
genetic heterogeneity (see rieg2, )


HPO:

33
axenfeld-rieger syndrome, type 1:
Onset and clinical course variable expressivity
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



Summaries for Axenfeld-Rieger Syndrome, Type 1

OMIM : 58 Axenfeld-Rieger syndrome is 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 (Fitch and Kaback, 1978). Systemic anomalies are associated, including dental hypoplasia, failure of involution of periumbilical skin, and maxillary hypoplasia (Alkemade, 1969). (180500)

MalaCards based summary : Axenfeld-Rieger Syndrome, Type 1, also known as axenfeld-rieger syndrome type 1, is related to axenfeld-rieger syndrome and peters-plus syndrome. An important gene associated with Axenfeld-Rieger Syndrome, Type 1 is PITX2 (Paired Like Homeodomain 2), and among its related pathways/superpathways are Mesodermal Commitment Pathway and Ectoderm Differentiation. Affiliated tissues include skin, eye and lung, and related phenotypes are prominent supraorbital ridges and wide nasal bridge

Disease Ontology : 12 An Axenfeld-Rieger syndrome that has material basis in heterozygous mutation in the homeobox transcription factor gene PITX2 on chromosome 4q25.

UniProtKB/Swiss-Prot : 76 Axenfeld-Rieger syndrome 1: 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. Additional features include aniridia, maxillary hypoplasia, hypodontia, anal stenosis, redundant periumbilical skin.

Related Diseases for Axenfeld-Rieger Syndrome, Type 1

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 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 70)
# Related Disease Score Top Affiliating Genes
1 axenfeld-rieger syndrome 32.2 PAX6 PITX2 PRDM5 SHOX2
2 peters-plus syndrome 30.4 PAX6 PITX2 PITX3
3 blood group, chido/rodgers system 11.7
4 axenfeld-rieger syndrome, type 2 11.2
5 streptococcal group a invasive disease 10.3
6 retinoblastoma 10.2
7 rheumatoid arthritis 10.2
8 neutropenia 10.2
9 rabies 10.2
10 leri-weill dyschondrosteosis 10.2 SHOX SHOX2
11 fryns microphthalmia syndrome 10.2 HESX1 PAX6
12 axenfeld-rieger syndrome, type 3 10.2 PAX6 PITX2
13 anterior segment dysgenesis 4 10.1
14 anterior segment dysgenesis 1 10.1 PAX6 PITX2 PITX3
15 anterior segment dysgenesis 10.1 PAX6 PITX2 PITX3
16 intestinal atresia 10.1 PAX6 PITX2
17 ovarian cancer 10.1
18 laurin-sandrow syndrome 10.1 PITX1 SHH
19 gonadal disease 10.1 FOXL2 SHOX SHOX2
20 syngnathia 10.1 BMP4 FGF8
21 coloboma of optic nerve 10.1 PAX2 PAX6
22 septopreoptic holoprosencephaly 10.1 FGF8 SHH
23 congenital aphakia 10.1 PAX2 PAX6
24 midline interhemispheric variant of holoprosencephaly 10.1 FGF8 SHH
25 iris disease 10.1 PAX6 PITX2
26 alobar holoprosencephaly 10.1 FGF8 SHH
27 lobar holoprosencephaly 10.0 FGF8 SHH
28 cleft palate with or without ankyloglossia, x-linked 10.0 BMP4 FGF8
29 eyelid disease 10.0 FOXL2 SHOX2
30 breast cancer 10.0
31 macular degeneration, age-related, 1 10.0
32 blood group, junior system 10.0
33 generalized epilepsy with febrile seizures plus 10.0
34 isolated growth hormone deficiency type iii 10.0 ESX1 HESX1
35 microform holoprosencephaly 9.9 FGF8 SHH
36 radin blood group antigen 9.9
37 blood group--wright antigen 9.9
38 migraine, familial hemiplegic, 1 9.9
39 cyclic neutropenia 9.9
40 neutrophil migration 9.9
41 small cell cancer of the lung 9.9
42 lung cancer 9.9
43 cystic fibrosis 9.9
44 retinitis pigmentosa 9.9
45 retinitis pigmentosa 12 9.9
46 leber congenital amaurosis 4 9.9
47 anxiety 9.9
48 muscle hypertrophy 9.9
49 leukemia 9.9
50 severe congenital neutropenia 9.9

Graphical network of the top 20 diseases related to Axenfeld-Rieger Syndrome, Type 1:



Diseases related to Axenfeld-Rieger Syndrome, Type 1

Symptoms & Phenotypes for Axenfeld-Rieger Syndrome, Type 1

Human phenotypes related to Axenfeld-Rieger Syndrome, Type 1:

33 (show all 21)
# Description HPO Frequency HPO Source Accession
1 prominent supraorbital ridges 33 HP:0000336
2 wide nasal bridge 33 HP:0000431
3 strabismus 33 HP:0000486
4 megalocornea 33 HP:0000485
5 short philtrum 33 HP:0000322
6 hypospadias 33 HP:0000047
7 hypoplasia of the maxilla 33 HP:0000327
8 glaucoma 33 HP:0000501
9 hypoplasia of the iris 33 HP:0007676
10 anal atresia 33 HP:0002023
11 posterior embryotoxon 33 HP:0000627
12 thin upper lip vermilion 33 HP:0000219
13 hypodontia 33 HP:0000668
14 microcornea 33 HP:0000482
15 aniridia 33 HP:0000526
16 anal stenosis 33 HP:0002025
17 growth hormone deficiency 33 HP:0000824
18 rieger anomaly 33 HP:0000558
19 abnormality of the abdominal wall 33 HP:0004298
20 abnormally prominent line of schwalbe 33 HP:0007873
21 polycoria 33 HP:0011500

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Face:
prominent supraorbital ridges
short philtrum
maxillary hypoplasia

Genitourinary External Genitalia Male:
hypospadias

Endocrine Features:
growth hormone deficiency

Head And Neck Mouth:
thin upper lip

Abdomen External Features:
umbilical defect (redundant periumbilical skin)

Head And Neck Eyes:
strabismus
megalocornea
glaucoma
microcornea
aniridia
more
Abdomen Gastrointestinal:
anal stenosis
imperforate anus

Head And Neck Nose:
broad nasal bridge

Head And Neck Teeth:
hypodontia (maxillary incisors)

Clinical features from OMIM:

180500

MGI Mouse Phenotypes related to Axenfeld-Rieger Syndrome, Type 1:

47 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.25 BMP4 CRX FGF8 PAX2 PAX6 PITX1
2 endocrine/exocrine gland MP:0005379 10.19 BMP4 FGF8 FOXL2 HESX1 PAX2 PAX6
3 growth/size/body region MP:0005378 10.18 BMP4 FGF8 FOXL2 HESX1 PAX6 PITX1
4 craniofacial MP:0005382 10.14 BMP4 FGF8 HESX1 PAX6 PITX1 PITX2
5 nervous system MP:0003631 10.14 BMP4 CRX FGF8 HESX1 PAX2 PAX6
6 embryo MP:0005380 10.11 BMP4 FGF8 HESX1 PAX2 PAX6 PITX1
7 digestive/alimentary MP:0005381 10.07 BMP4 FGF8 PAX6 PITX1 PITX2 SHH
8 hearing/vestibular/ear MP:0005377 10 BMP4 FGF8 HESX1 PAX2 PAX6 PITX1
9 limbs/digits/tail MP:0005371 9.91 BMP4 FGF8 PITX1 PITX2 SHH SHOX2
10 normal MP:0002873 9.91 BMP4 FGF8 FOXL2 HESX1 PAX6 PITX2
11 reproductive system MP:0005389 9.86 BMP4 FGF8 FOXL2 PAX2 PAX6 PITX2
12 pigmentation MP:0001186 9.72 CRX PAX2 PAX6 PITX2 PITX3
13 respiratory system MP:0005388 9.7 BMP4 FGF8 HESX1 PAX6 PITX2 PITX3
14 skeleton MP:0005390 9.61 BMP4 FGF8 PAX6 PITX1 PITX2 PITX3
15 vision/eye MP:0005391 9.32 BMP4 CRX FGF8 FOXL2 HESX1 PAX2

Drugs & Therapeutics for Axenfeld-Rieger Syndrome, Type 1

Search Clinical Trials , NIH Clinical Center for Axenfeld-Rieger Syndrome, Type 1

Genetic Tests for Axenfeld-Rieger Syndrome, Type 1

Genetic tests related to Axenfeld-Rieger Syndrome, Type 1:

# Genetic test Affiliating Genes
1 Axenfeld-Rieger Syndrome Type 1 30 PITX2

Anatomical Context for Axenfeld-Rieger Syndrome, Type 1

MalaCards organs/tissues related to Axenfeld-Rieger Syndrome, Type 1:

42
Skin, Eye, Lung, Breast, Neutrophil

Publications for Axenfeld-Rieger Syndrome, Type 1

Articles related to Axenfeld-Rieger Syndrome, Type 1:

# Title Authors Year
1
Whole exome sequencing identifies a heterozygous missense variant in the PRDM5 gene in a family with Axenfeld-Rieger syndrome. ( 26489929 )
2016
2
Novel expression and transcriptional regulation of FoxJ1 during oro-facial morphogenesis. ( 18723525 )
2008
3
Dominant negative dimerization of a mutant homeodomain protein in Axenfeld-Rieger syndrome. ( 12612071 )
2003
4
Functional analyses of two newly identified PITX2 mutants reveal a novel molecular mechanism for Axenfeld-Rieger syndrome. ( 11487566 )
2001
5
Identification of a dominant negative homeodomain mutation in Rieger syndrome. ( 11301317 )
2001
6
The molecular basis of Rieger syndrome. Analysis of Pitx2 homeodomain protein activities. ( 9685346 )
1998
7
Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome. ( 8944018 )
1996

Variations for Axenfeld-Rieger Syndrome, Type 1

UniProtKB/Swiss-Prot genetic disease variations for Axenfeld-Rieger Syndrome, Type 1:

76
# Symbol AA change Variation ID SNP ID
1 PITX2 p.Leu100Gln VAR_003763 rs104893857
2 PITX2 p.Thr114Pro VAR_003764 rs104893858
3 PITX2 p.Arg137Pro VAR_003766 rs104893859
4 PITX2 p.Val129Leu VAR_035029 rs121909249
5 PITX2 p.Pro110Leu VAR_058735 rs105751948
6 PITX2 p.Pro110Arg VAR_058736
7 PITX2 p.Lys134Glu VAR_058737 rs387906810
8 PITX2 p.Arg136Cys VAR_058738
9 PITX2 p.Leu151Val VAR_058739
10 PITX2 p.Asn154Thr VAR_058740

ClinVar genetic disease variations for Axenfeld-Rieger Syndrome, Type 1:

6 (show all 46)
# Gene Variation Type Significance SNP ID Assembly Location
1 PITX2 NM_153427.2(PITX2): c.253-11A> G single nucleotide variant Pathogenic GRCh38 Chromosome 4, 110618699: 110618699
2 PITX2 NM_153427.2(PITX2): c.272G> C (p.Arg91Pro) single nucleotide variant Pathogenic rs104893859 GRCh37 Chromosome 4, 111539825: 111539825
3 PITX2 NM_153427.2(PITX2): c.253-11A> G single nucleotide variant Pathogenic GRCh37 Chromosome 4, 111539855: 111539855
4 PITX2 NM_153427.2(PITX2): c.272G> C (p.Arg91Pro) single nucleotide variant Pathogenic rs104893859 GRCh38 Chromosome 4, 110618669: 110618669
5 PITX2 NM_153427.2(PITX2): c.399G> A (p.Trp133Ter) single nucleotide variant Pathogenic rs104893860 GRCh37 Chromosome 4, 111539698: 111539698
6 PITX2 NM_153427.2(PITX2): c.399G> A (p.Trp133Ter) single nucleotide variant Pathogenic rs104893860 GRCh38 Chromosome 4, 110618542: 110618542
7 PITX2 NM_153427.2(PITX2): c.202A> C (p.Thr68Pro) single nucleotide variant Pathogenic rs104893858 GRCh38 Chromosome 4, 110621214: 110621214
8 PITX2 NM_153427.2(PITX2): c.161T> A (p.Leu54Gln) single nucleotide variant Pathogenic rs104893857 GRCh37 Chromosome 4, 111542411: 111542411
9 PITX2 NM_153427.2(PITX2): c.161T> A (p.Leu54Gln) single nucleotide variant Pathogenic rs104893857 GRCh38 Chromosome 4, 110621255: 110621255
10 PITX2 NM_153427.2(PITX2): c.252+5G> C single nucleotide variant Pathogenic GRCh37 Chromosome 4, 111542315: 111542315
11 PITX2 NM_153427.2(PITX2): c.252+5G> C single nucleotide variant Pathogenic GRCh38 Chromosome 4, 110621159: 110621159
12 PITX2 NM_153427.2(PITX2): c.202A> C (p.Thr68Pro) single nucleotide variant Pathogenic rs104893858 GRCh37 Chromosome 4, 111542370: 111542370
13 PITX2 NM_153427.2(PITX2): c.247G> C (p.Val83Leu) single nucleotide variant Pathogenic rs121909249 GRCh37 Chromosome 4, 111542325: 111542325
14 PITX2 NM_153427.2(PITX2): c.247G> C (p.Val83Leu) single nucleotide variant Pathogenic rs121909249 GRCh38 Chromosome 4, 110621169: 110621169
15 PITX2 PITX2, 21-BP DUP, NT713 duplication Pathogenic
16 PITX2 NM_153427.2(PITX2): c.262A> G (p.Lys88Glu) single nucleotide variant Pathogenic rs387906810 GRCh37 Chromosome 4, 111539835: 111539835
17 PITX2 NM_153427.2(PITX2): c.262A> G (p.Lys88Glu) single nucleotide variant Pathogenic rs387906810 GRCh38 Chromosome 4, 110618679: 110618679
18 PRDM5 NM_018699.3(PRDM5): c.877A> G (p.Lys293Glu) single nucleotide variant Uncertain significance rs779601690 GRCh38 Chromosome 4, 120811438: 120811438
19 PRDM5 NM_018699.3(PRDM5): c.877A> G (p.Lys293Glu) single nucleotide variant Uncertain significance rs779601690 GRCh37 Chromosome 4, 121732593: 121732593
20 PITX2 NM_153427.2(PITX2): c.459T> G (p.Ser153=) single nucleotide variant Benign/Likely benign rs35946364 GRCh37 Chromosome 4, 111539638: 111539638
21 PITX2 NM_153427.2(PITX2): c.459T> G (p.Ser153=) single nucleotide variant Benign/Likely benign rs35946364 GRCh38 Chromosome 4, 110618482: 110618482
22 PITX2 NM_153427.2(PITX2): c.555_576del22 (p.Thr186Serfs) deletion Pathogenic rs1057519487 GRCh38 Chromosome 4, 110618365: 110618386
23 PITX2 NC_000004.12: g.(?_110618049)_(110622472_?)del deletion Pathogenic GRCh37 Chromosome 4, 111539205: 111543628
24 PITX2 NC_000004.12: g.(?_110618049)_(110622472_?)del deletion Pathogenic GRCh38 Chromosome 4, 110618049: 110622472
25 PITX2 NM_153427.2(PITX2): c.648T> A (p.Cys216Ter) single nucleotide variant Pathogenic rs1057519489 GRCh38 Chromosome 4, 110618293: 110618293
26 PITX2 NM_153427.2(PITX2): c.648T> A (p.Cys216Ter) single nucleotide variant Pathogenic rs1057519489 GRCh37 Chromosome 4, 111539449: 111539449
27 PITX2 NM_153427.2(PITX2): c.625_626delTC (p.Ser209Argfs) deletion Pathogenic rs1057519488 GRCh38 Chromosome 4, 110618315: 110618316
28 PITX2 NM_153427.2(PITX2): c.625_626delTC (p.Ser209Argfs) deletion Pathogenic rs1057519488 GRCh37 Chromosome 4, 111539471: 111539472
29 PITX2 NM_153427.2(PITX2): c.555_576del22 (p.Thr186Serfs) deletion Pathogenic rs1057519487 GRCh37 Chromosome 4, 111539521: 111539542
30 PITX2 NM_153427.2(PITX2): c.274G> C (p.Ala92Pro) single nucleotide variant Uncertain significance rs1057519486 GRCh37 Chromosome 4, 111539823: 111539823
31 PITX2 NM_153427.2(PITX2): c.274G> C (p.Ala92Pro) single nucleotide variant Uncertain significance rs1057519486 GRCh38 Chromosome 4, 110618667: 110618667
32 PITX2 NM_153427.2(PITX2): c.271C> G (p.Arg91Gly) single nucleotide variant Uncertain significance rs1057519485 GRCh37 Chromosome 4, 111539826: 111539826
33 PITX2 NM_153427.2(PITX2): c.271C> G (p.Arg91Gly) single nucleotide variant Uncertain significance rs1057519485 GRCh38 Chromosome 4, 110618670: 110618670
34 PITX2 NM_153427.2(PITX2): c.184_205del22 (p.Arg62Alafs) deletion Pathogenic rs1057519483 GRCh38 Chromosome 4, 110621211: 110621232
35 PITX2 NM_153427.2(PITX2): c.184_205del22 (p.Arg62Alafs) deletion Pathogenic rs1057519483 GRCh37 Chromosome 4, 111542367: 111542388
36 PITX2 NM_153427.2(PITX2): c.191C> T (p.Pro64Leu) single nucleotide variant Pathogenic rs1057519484 GRCh38 Chromosome 4, 110621225: 110621225
37 PITX2 NM_153427.2(PITX2): c.191C> T (p.Pro64Leu) single nucleotide variant Pathogenic rs1057519484 GRCh37 Chromosome 4, 111542381: 111542381
38 PITX2 GRCh37/hg19 4q25(chr4: 111528916-111888401)x1 copy number loss Pathogenic GRCh37 Chromosome 4, 111426357: 111990971
39 PITX2 NM_153427.2(PITX2): c.47-9C> T single nucleotide variant Benign/Likely benign rs367757020 GRCh37 Chromosome 4, 111542534: 111542534
40 PITX2 NM_153427.2(PITX2): c.47-9C> T single nucleotide variant Benign/Likely benign rs367757020 GRCh38 Chromosome 4, 110621378: 110621378
41 PITX2 NM_153427.2(PITX2): c.202dup (p.Thr68Asnfs) duplication Likely pathogenic rs1553922891 GRCh37 Chromosome 4, 111542370: 111542370
42 PITX2 NM_153427.2(PITX2): c.202dup (p.Thr68Asnfs) duplication Likely pathogenic rs1553922891 GRCh38 Chromosome 4, 110621214: 110621214
43 PITX2 NC_000004.12: g.(?_110618181)_(110621345_?)del deletion Likely pathogenic GRCh37 Chromosome 4, 111539337: 111542501
44 PITX2 NC_000004.12: g.(?_110618181)_(110621345_?)del deletion Likely pathogenic GRCh38 Chromosome 4, 110618181: 110621345
45 PITX2 NM_153427.2(PITX2): c.253-2A> G single nucleotide variant Likely pathogenic rs1553922583 GRCh37 Chromosome 4, 111539846: 111539846
46 PITX2 NM_153427.2(PITX2): c.253-2A> G single nucleotide variant Likely pathogenic rs1553922583 GRCh38 Chromosome 4, 110618690: 110618690

Expression for Axenfeld-Rieger Syndrome, Type 1

Search GEO for disease gene expression data for Axenfeld-Rieger Syndrome, Type 1.

Pathways for Axenfeld-Rieger Syndrome, Type 1

GO Terms for Axenfeld-Rieger Syndrome, Type 1

Cellular components related to Axenfeld-Rieger Syndrome, Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.4 CRX ESX1 FOXL2 HESX1 PAX2 PAX6

Biological processes related to Axenfeld-Rieger Syndrome, Type 1 according to GeneCards Suite gene sharing:

(show top 50) (show all 68)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.98 BMP4 FGF8 SHH SHOX2
2 regulation of gene expression GO:0010468 9.97 BMP4 PAX6 PITX3 SHH
3 skeletal system development GO:0001501 9.91 BMP4 PITX1 SHOX SHOX2
4 animal organ morphogenesis GO:0009887 9.89 CRX PAX6 PITX3
5 kidney development GO:0001822 9.88 BMP4 FGF8 SHH
6 lung development GO:0030324 9.88 BMP4 FGF8 SHH
7 determination of left/right symmetry GO:0007368 9.85 FGF8 PITX2 SHH
8 forebrain development GO:0030900 9.85 BMP4 PAX6 SHH
9 smoothened signaling pathway GO:0007224 9.85 BMP4 PAX6 SHH
10 anatomical structure morphogenesis GO:0009653 9.85 FGF8 FOXL2 PITX1 PITX2 PITX3
11 positive regulation of transcription by RNA polymerase II GO:0045944 9.85 BMP4 CRX FOXL2 PAX2 PAX6 PITX1
12 cell fate commitment GO:0045165 9.83 BMP4 FGF8 PAX6 SHH
13 embryonic limb morphogenesis GO:0030326 9.82 BMP4 SHH SHOX2
14 positive regulation of cell differentiation GO:0045597 9.8 BMP4 FGF8 SHH
15 branching involved in ureteric bud morphogenesis GO:0001658 9.8 BMP4 FGF8 PAX2 SHH
16 metanephros development GO:0001656 9.77 BMP4 FGF8 SHH
17 neuron fate commitment GO:0048663 9.75 BMP4 PAX6 SHH
18 telencephalon development GO:0021537 9.74 BMP4 FGF8
19 branching involved in blood vessel morphogenesis GO:0001569 9.74 FGF8 SHH
20 outflow tract septum morphogenesis GO:0003148 9.74 BMP4 FGF8
21 branching morphogenesis of an epithelial tube GO:0048754 9.74 BMP4 SHH
22 dopaminergic neuron differentiation GO:0071542 9.74 FGF8 PITX3 SHH
23 positive regulation of mesenchymal cell proliferation GO:0002053 9.73 SHH SHOX2
24 vasculature development GO:0001944 9.73 BMP4 SHH
25 negative regulation of neurogenesis GO:0050768 9.73 PAX6 PITX3
26 thyroid gland development GO:0030878 9.73 FGF8 SHH
27 anatomical structure formation involved in morphogenesis GO:0048646 9.73 BMP4 SHH
28 lung morphogenesis GO:0060425 9.73 BMP4 FGF8 SHH
29 odontogenesis GO:0042476 9.73 BMP4 FGF8 PITX2 SHH
30 regulation of transcription, DNA-templated GO:0006355 9.73 CRX ESX1 FOXL2 HESX1 PAX2 PAX6
31 renal system development GO:0072001 9.72 BMP4 SHH
32 positive regulation of neuroblast proliferation GO:0002052 9.72 PAX6 SHH
33 signal transduction involved in regulation of gene expression GO:0023019 9.72 FGF8 PAX6
34 male genitalia development GO:0030539 9.72 FGF8 SHH
35 cell fate determination GO:0001709 9.72 PAX2 PAX6
36 embryonic morphogenesis GO:0048598 9.72 BMP4 SHH SHOX2
37 embryonic digestive tract morphogenesis GO:0048557 9.71 SHH SHOX2
38 epithelial tube branching involved in lung morphogenesis GO:0060441 9.71 BMP4 SHH
39 dorsal/ventral neural tube patterning GO:0021904 9.71 BMP4 SHH
40 mesonephros development GO:0001823 9.71 BMP4 FGF8 PAX2
41 pituitary gland development GO:0021983 9.71 BMP4 HESX1 PAX6 PITX1
42 branching involved in salivary gland morphogenesis GO:0060445 9.7 FGF8 SHH
43 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.7 BMP4 FGF8
44 organ induction GO:0001759 9.7 BMP4 FGF8
45 embryonic skeletal joint morphogenesis GO:0060272 9.69 BMP4 SHOX2
46 forebrain morphogenesis GO:0048853 9.69 FGF8 HESX1
47 iris morphogenesis GO:0061072 9.68 PAX6 PITX2
48 forebrain dorsal/ventral pattern formation GO:0021798 9.67 FGF8 PAX6
49 embryonic hindlimb morphogenesis GO:0035116 9.67 BMP4 FGF8 PITX1 SHH
50 mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0003337 9.66 BMP4 PAX2

Molecular functions related to Axenfeld-Rieger Syndrome, Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 9.87 CRX FOXL2 PAX6 PITX1 PITX2 PITX3
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.76 CRX FOXL2 HESX1 PAX6 PITX1 PITX2
3 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.73 CRX ESX1 FOXL2 HESX1 PAX2 PAX6
4 RNA polymerase II transcription factor binding GO:0001085 9.54 PITX1 PITX2 PITX3
5 sequence-specific DNA binding GO:0043565 9.36 CRX ESX1 FOXL2 HESX1 PAX6 PITX1
6 DNA binding GO:0003677 10.03 CRX ESX1 FOXL2 HESX1 PAX2 PAX6

Sources for Axenfeld-Rieger Syndrome, Type 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....