RIEG1
MCID: AXN009
MIFTS: 49

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 57 13 40 73
Axenfeld-Rieger Syndrome Type 1 12 29 6 15
Rieg1 57 12 75
Rieg 57 75 55
Rieger Syndrome Type 1 12 75
Rgs 57 75
Iridogoniodysgenesis with Somatic Anomalies 75
Axenfeld-Rieger Syndrome 1 75
Rieger Syndrome, Type 1 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable expressivity
genetic heterogeneity (see rieg2, )


HPO:

32
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 : 57 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 : 75 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 63)
# Related Disease Score Top Affiliating Genes
1 axenfeld-rieger syndrome 32.2 SHOX2 PRDM5 PITX2 PAX6
2 peters-plus syndrome 30.3 PITX3 PITX2 PAX6
3 blood group, chido/rodgers system 11.7
4 axenfeld-rieger syndrome, type 2 11.1
5 mohr-tranebjaerg syndrome 11.1
6 neutropenia 10.2
7 fryns microphthalmia syndrome 10.1 PAX6 HESX1
8 axenfeld-rieger syndrome, type 3 10.1 PITX2 PAX6
9 leri-weill dyschondrosteosis 10.1 SHOX2 SHOX
10 ovarian cancer 10.1
11 intestinal atresia 10.1 PITX2 PAX6
12 anterior segment dysgenesis 4 10.1
13 anterior segment dysgenesis 1 10.1 PITX3 PITX2 PAX6
14 anterior segment dysgenesis 10.1 PITX3 PITX2 PAX6
15 laurin-sandrow syndrome 10.1 SHH PITX1
16 gonadal disease 10.1 SHOX2 SHOX FOXL2
17 syngnathia 10.1 FGF8 BMP4
18 coloboma of optic nerve 10.1 PAX6 PAX2
19 congenital aphakia 10.1 PAX6 PAX2
20 midline interhemispheric variant of holoprosencephaly 10.0 SHH FGF8
21 septopreoptic holoprosencephaly 10.0 SHH FGF8
22 alobar holoprosencephaly 10.0 SHH FGF8
23 lobar holoprosencephaly 10.0 SHH FGF8
24 eyelid disease 10.0 SHOX2 FOXL2
25 retinoblastoma 10.0
26 rheumatoid arthritis 10.0
27 cleft palate with or without ankyloglossia, x-linked 10.0 FGF8 BMP4
28 isolated growth hormone deficiency type iii 10.0 HESX1 ESX1
29 microform holoprosencephaly 10.0 SHH FGF8
30 semilobar holoprosencephaly 9.9 SHH FGF8
31 iris disease 9.9 PITX2 PAX6
32 tooth size 9.9 SHH FGF8 BMP4
33 agnathia-otocephaly complex 9.9 SHH FGF8 BMP4
34 breast cancer 9.9
35 cyclic neutropenia 9.9
36 small cell cancer of the lung 9.9
37 lung cancer 9.9
38 cystic fibrosis 9.9
39 retinitis pigmentosa 9.9
40 retinitis pigmentosa 12 9.9
41 macular degeneration, age-related, 1 9.9
42 leber congenital amaurosis 4 9.9
43 anxiety 9.9
44 leukemia 9.9
45 severe congenital neutropenia 9.9
46 chorioamnionitis 9.9
47 familial hemiplegic migraine 9.9
48 kuhnt-junius degeneration 9.9
49 rabies 9.9
50 cryptococcosis 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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 21)
# Description HPO Frequency HPO Source Accession
1 prominent supraorbital ridges 32 HP:0000336
2 wide nasal bridge 32 HP:0000431
3 strabismus 32 HP:0000486
4 megalocornea 32 HP:0000485
5 short philtrum 32 HP:0000322
6 hypospadias 32 HP:0000047
7 hypoplasia of the maxilla 32 HP:0000327
8 glaucoma 32 HP:0000501
9 hypoplasia of the iris 32 HP:0007676
10 anal atresia 32 HP:0002023
11 posterior embryotoxon 32 HP:0000627
12 thin upper lip vermilion 32 HP:0000219
13 hypodontia 32 HP:0000668
14 microcornea 32 HP:0000482
15 aniridia 32 HP:0000526
16 anal stenosis 32 HP:0002025
17 growth hormone deficiency 32 HP:0000824
18 rieger anomaly 32 HP:0000558
19 abnormality of the abdominal wall 32 HP:0004298
20 abnormally prominent line of schwalbe 32 HP:0007873
21 polycoria 32 HP:0011500

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

46 (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 29 PITX2

Anatomical Context for Axenfeld-Rieger Syndrome, Type 1

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

41
Skin, Eye, Lung, Bone, Breast, Pituitary

Publications for Axenfeld-Rieger Syndrome, Type 1

Variations for Axenfeld-Rieger Syndrome, Type 1

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

75
# 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.161T> A (p.Leu54Gln) single nucleotide variant Pathogenic rs104893857 GRCh37 Chromosome 4, 111542411: 111542411
2 PITX2 NM_153427.2(PITX2): c.161T> A (p.Leu54Gln) single nucleotide variant Pathogenic rs104893857 GRCh38 Chromosome 4, 110621255: 110621255
3 PITX2 NM_153427.2(PITX2): c.252+5G> C single nucleotide variant Pathogenic GRCh37 Chromosome 4, 111542315: 111542315
4 PITX2 NM_153427.2(PITX2): c.252+5G> C single nucleotide variant Pathogenic GRCh38 Chromosome 4, 110621159: 110621159
5 PITX2 NM_153427.2(PITX2): c.202A> C (p.Thr68Pro) single nucleotide variant Pathogenic rs104893858 GRCh37 Chromosome 4, 111542370: 111542370
6 PITX2 NM_153427.2(PITX2): c.202A> C (p.Thr68Pro) single nucleotide variant Pathogenic rs104893858 GRCh38 Chromosome 4, 110621214: 110621214
7 PITX2 NM_153427.2(PITX2): c.253-11A> G single nucleotide variant Pathogenic GRCh37 Chromosome 4, 111539855: 111539855
8 PITX2 NM_153427.2(PITX2): c.253-11A> G single nucleotide variant Pathogenic GRCh38 Chromosome 4, 110618699: 110618699
9 PITX2 NM_153427.2(PITX2): c.272G> C (p.Arg91Pro) single nucleotide variant Pathogenic rs104893859 GRCh37 Chromosome 4, 111539825: 111539825
10 PITX2 NM_153427.2(PITX2): c.272G> C (p.Arg91Pro) single nucleotide variant Pathogenic rs104893859 GRCh38 Chromosome 4, 110618669: 110618669
11 PITX2 NM_153427.2(PITX2): c.399G> A (p.Trp133Ter) single nucleotide variant Pathogenic rs104893860 GRCh37 Chromosome 4, 111539698: 111539698
12 PITX2 NM_153427.2(PITX2): c.399G> A (p.Trp133Ter) single nucleotide variant Pathogenic rs104893860 GRCh38 Chromosome 4, 110618542: 110618542
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 NC_000004.12: g.(?_110618049)_(110622472_?)del deletion Pathogenic GRCh37 Chromosome 4, 111539205: 111543628
23 PITX2 NC_000004.12: g.(?_110618049)_(110622472_?)del deletion Pathogenic GRCh38 Chromosome 4, 110618049: 110622472
24 PITX2 NM_153427.2(PITX2): c.648T> A (p.Cys216Ter) single nucleotide variant Pathogenic rs1057519489 GRCh38 Chromosome 4, 110618293: 110618293
25 PITX2 NM_153427.2(PITX2): c.648T> A (p.Cys216Ter) single nucleotide variant Pathogenic rs1057519489 GRCh37 Chromosome 4, 111539449: 111539449
26 PITX2 NM_153427.2(PITX2): c.625_626delTC (p.Ser209Argfs) deletion Pathogenic rs1057519488 GRCh38 Chromosome 4, 110618315: 110618316
27 PITX2 NM_153427.2(PITX2): c.625_626delTC (p.Ser209Argfs) deletion Pathogenic rs1057519488 GRCh37 Chromosome 4, 111539471: 111539472
28 PITX2 NM_153427.2(PITX2): c.555_576del22 (p.Thr186Serfs) deletion Pathogenic rs1057519487 GRCh37 Chromosome 4, 111539521: 111539542
29 PITX2 NM_153427.2(PITX2): c.555_576del22 (p.Thr186Serfs) deletion Pathogenic rs1057519487 GRCh38 Chromosome 4, 110618365: 110618386
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 rs367757020 GRCh37 Chromosome 4, 111542534: 111542534
40 PITX2 NM_153427.2(PITX2): c.47-9C> T single nucleotide variant Benign rs367757020 GRCh38 Chromosome 4, 110621378: 110621378
41 PITX2 NM_153427.2(PITX2): c.202dup (p.Thr68Asnfs) duplication Likely pathogenic GRCh37 Chromosome 4, 111542370: 111542370
42 PITX2 NM_153427.2(PITX2): c.202dup (p.Thr68Asnfs) duplication Likely pathogenic 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 GRCh37 Chromosome 4, 111539846: 111539846
46 PITX2 NM_153427.2(PITX2): c.253-2A> G single nucleotide variant Likely pathogenic 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 transcription by RNA polymerase II GO:0006366 9.92 CRX FOXL2 PAX2 PAX6 PITX1 PITX2
4 skeletal system development GO:0001501 9.91 BMP4 PITX1 SHOX SHOX2
5 animal organ morphogenesis GO:0009887 9.89 CRX PAX6 PITX3
6 kidney development GO:0001822 9.88 BMP4 FGF8 SHH
7 lung development GO:0030324 9.88 BMP4 FGF8 SHH
8 determination of left/right symmetry GO:0007368 9.85 FGF8 PITX2 SHH
9 forebrain development GO:0030900 9.85 BMP4 PAX6 SHH
10 smoothened signaling pathway GO:0007224 9.85 BMP4 PAX6 SHH
11 anatomical structure morphogenesis GO:0009653 9.85 FGF8 FOXL2 PITX1 PITX2 PITX3
12 positive regulation of transcription by RNA polymerase II GO:0045944 9.85 BMP4 CRX FOXL2 PAX2 PAX6 PITX1
13 cell fate commitment GO:0045165 9.83 BMP4 FGF8 PAX6 SHH
14 embryonic limb morphogenesis GO:0030326 9.82 BMP4 SHH SHOX2
15 positive regulation of cell differentiation GO:0045597 9.8 BMP4 FGF8 SHH
16 branching involved in ureteric bud morphogenesis GO:0001658 9.8 BMP4 FGF8 PAX2 SHH
17 metanephros development GO:0001656 9.76 BMP4 FGF8 SHH
18 neuron fate commitment GO:0048663 9.75 BMP4 PAX6 SHH
19 telencephalon development GO:0021537 9.74 BMP4 FGF8
20 branching involved in blood vessel morphogenesis GO:0001569 9.74 FGF8 SHH
21 outflow tract septum morphogenesis GO:0003148 9.74 BMP4 FGF8
22 branching morphogenesis of an epithelial tube GO:0048754 9.74 BMP4 SHH
23 dopaminergic neuron differentiation GO:0071542 9.74 FGF8 PITX3 SHH
24 positive regulation of mesenchymal cell proliferation GO:0002053 9.73 SHH SHOX2
25 vasculature development GO:0001944 9.73 BMP4 SHH
26 negative regulation of neurogenesis GO:0050768 9.73 PAX6 PITX3
27 thyroid gland development GO:0030878 9.73 FGF8 SHH
28 anatomical structure formation involved in morphogenesis GO:0048646 9.73 BMP4 SHH
29 lung morphogenesis GO:0060425 9.73 BMP4 FGF8 SHH
30 odontogenesis GO:0042476 9.73 BMP4 FGF8 PITX2 SHH
31 regulation of transcription, DNA-templated GO:0006355 9.73 CRX ESX1 FOXL2 HESX1 PAX2 PAX6
32 renal system development GO:0072001 9.72 BMP4 SHH
33 positive regulation of neuroblast proliferation GO:0002052 9.72 PAX6 SHH
34 signal transduction involved in regulation of gene expression GO:0023019 9.72 FGF8 PAX6
35 male genitalia development GO:0030539 9.72 FGF8 SHH
36 cell fate determination GO:0001709 9.72 PAX2 PAX6
37 embryonic morphogenesis GO:0048598 9.72 BMP4 SHH SHOX2
38 embryonic digestive tract morphogenesis GO:0048557 9.71 SHH SHOX2
39 epithelial tube branching involved in lung morphogenesis GO:0060441 9.71 BMP4 SHH
40 dorsal/ventral neural tube patterning GO:0021904 9.71 BMP4 SHH
41 mesonephros development GO:0001823 9.71 BMP4 FGF8 PAX2
42 pituitary gland development GO:0021983 9.71 BMP4 HESX1 PAX6 PITX1
43 branching involved in salivary gland morphogenesis GO:0060445 9.7 FGF8 SHH
44 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.7 BMP4 FGF8
45 organ induction GO:0001759 9.7 BMP4 FGF8
46 embryonic skeletal joint morphogenesis GO:0060272 9.69 BMP4 SHOX2
47 forebrain morphogenesis GO:0048853 9.69 FGF8 HESX1
48 iris morphogenesis GO:0061072 9.68 PAX6 PITX2
49 forebrain dorsal/ventral pattern formation GO:0021798 9.67 FGF8 PAX6
50 embryonic hindlimb morphogenesis GO:0035116 9.67 BMP4 FGF8 PITX1 SHH

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 9.91 CRX FOXL2 PAX6 PITX1 PITX2 PITX3
2 proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001077 9.8 CRX FOXL2 PAX6 PITX1 PITX2 PITX3
3 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.76 CRX FOXL2 HESX1 PAX6 PITX1 PITX2
4 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.73 CRX ESX1 FOXL2 HESX1 PAX2 PAX6
5 RNA polymerase II transcription factor binding GO:0001085 9.58 PITX1 PITX2 PITX3
6 sequence-specific DNA binding GO:0043565 9.36 CRX ESX1 FOXL2 HESX1 PAX6 PITX1
7 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 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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