RIEG1
MCID: AXN009
MIFTS: 49

Axenfeld-Rieger Syndrome, Type 1 (RIEG1)

Categories: Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal 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 56 13 39 71
Axenfeld-Rieger Syndrome Type 1 12 29 6 15
Rieg1 56 12 73
Rieg 56 73 54
Rieger Syndrome Type 1 12 73
Rgs 56 73
Iridogoniodysgenesis with Somatic Anomalies 73
Axenfeld-Rieger Syndrome 1 73
Rieger Syndrome, Type 1 56

Characteristics:

OMIM:

56
Miscellaneous:
variable expressivity
genetic heterogeneity (see rieg2, )

Inheritance:
autosomal dominant


HPO:

31
axenfeld-rieger syndrome, type 1:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course variable expressivity


Classifications:



Summaries for Axenfeld-Rieger Syndrome, Type 1

OMIM : 56 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, type 2 and anterior segment dysgenesis 2. An important gene associated with Axenfeld-Rieger Syndrome, Type 1 is PITX2 (Paired Like Homeodomain 2), and among its related pathways/superpathways is Heart Development. Affiliated tissues include eye, skin and heart, 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 : 73 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 153)
# Related Disease Score Top Affiliating Genes
1 axenfeld-rieger syndrome, type 2 32.3 PITX2 FOXC1
2 anterior segment dysgenesis 2 30.6 PITX3 FOXE3
3 anterior segment dysgenesis 4 30.5 PITX2 FOXC1 CRYAA
4 axenfeld-rieger syndrome 29.2 RAX PRDM5 PITX3 PITX2 PITX1 PAX6
5 axenfeld-rieger syndrome, type 3 29.2 PITX3 PITX2 PAX6 FOXE3 FOXC1 CRYAA
6 anterior segment dysgenesis 28.5 PITX3 PITX2 PAX6 FOXE3 FOXC1 CRYAA
7 peters-plus syndrome 28.5 PITX3 PITX2 PAX6 FOXE3 FOXC1 CRYAA
8 cataract 28.4 PITX3 PITX2 PAX6 FOXE3 FOXC1 CRYAA
9 blood group, chido/rodgers system 11.8
10 neutropenia 10.5
11 pertussis 10.4
12 rabies 10.3
13 macular degeneration, age-related, 1 10.3
14 cataract 11, multiple types 10.3 PITX3 CRYAA
15 posterior polar cataract 10.2 PITX3 CRYAA
16 helix syndrome 10.2
17 generalized epilepsy with febrile seizures plus 10.2
18 plague 10.2
19 triiodothyronine receptor auxiliary protein 10.2
20 retinitis pigmentosa 10.2
21 neuroretinitis 10.2
22 sick sinus syndrome 10.2
23 vaccinia 10.2
24 retinitis 10.2
25 anodontia 10.2
26 otopalatodigital syndrome, type ii 10.2 PITX2 FOXC1
27 orbital cyst 10.2 RAX FOXE3
28 isolated microphthalmia 10.2 RAX FOXE3
29 megalocornea 10.2 PITX2 FOXC1
30 ovarian cancer 10.1
31 kuhnt-junius degeneration 10.1
32 central serous chorioretinopathy 10.1
33 microphthalmia, isolated 3 10.1 RAX PAX6
34 microphthalmia, isolated 2 10.1 RAX PAX6
35 ectropion 10.1 PAX6 CRYAA
36 exotropia 10.0 PAX6 CRYAA
37 cyclic neutropenia 10.0
38 cystic fibrosis 10.0
39 retinitis pigmentosa 12 10.0
40 anxiety 10.0
41 severe congenital neutropenia 10.0
42 sinoatrial node disease 10.0
43 cryptococcosis 10.0
44 branch retinal artery occlusion 10.0
45 alcohol use disorder 10.0
46 neuroblastoma 10.0
47 retinal artery occlusion 10.0
48 dextro-looped transposition of the great arteries 10.0 PITX2 PITX1
49 vitreous disease 10.0 PAX6 CRYAA
50 isolated aniridia 10.0 PAX6 FOXC1

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:

31 (show all 21)
# Description HPO Frequency HPO Source Accession
1 prominent supraorbital ridges 31 HP:0000336
2 wide nasal bridge 31 HP:0000431
3 strabismus 31 HP:0000486
4 hypoplasia of the maxilla 31 HP:0000327
5 glaucoma 31 HP:0000501
6 hypoplasia of the iris 31 HP:0007676
7 anal atresia 31 HP:0002023
8 thin upper lip vermilion 31 HP:0000219
9 posterior embryotoxon 31 HP:0000627
10 hypospadias 31 HP:0000047
11 short philtrum 31 HP:0000322
12 megalocornea 31 HP:0000485
13 hypodontia 31 HP:0000668
14 microcornea 31 HP:0000482
15 aniridia 31 HP:0000526
16 anal stenosis 31 HP:0002025
17 growth hormone deficiency 31 HP:0000824
18 rieger anomaly 31 HP:0000558
19 abnormality of the abdominal wall 31 HP:0004298
20 abnormally prominent line of schwalbe 31 HP:0007873
21 polycoria 31 HP:0011500

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Face:
prominent supraorbital ridges
short philtrum
maxillary hypoplasia

Genitourinary External Genitalia Male:
hypospadias

Endocrine Features:
growth hormone deficiency

Head And Neck Nose:
broad nasal bridge

Abdomen External Features:
umbilical defect (redundant periumbilical skin)

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

Head And Neck Mouth:
thin upper lip

Head And Neck Teeth:
hypodontia (maxillary incisors)

Clinical features from OMIM:

180500

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.88 B3GLCT FOXC1 PAX6 PITX1 PITX2 RAX
2 nervous system MP:0003631 9.86 B3GLCT FOXC1 PAX6 PITX1 PITX2 PITX3
3 digestive/alimentary MP:0005381 9.85 B3GLCT FOXC1 PAX6 PITX1 PITX2 RAX
4 integument MP:0010771 9.8 B3GLCT FOXC1 PAX6 PITX1 PITX3 PRDM5
5 pigmentation MP:0001186 9.55 B3GLCT FOXC1 PAX6 PITX2 PITX3
6 skeleton MP:0005390 9.5 B3GLCT FOXC1 PAX6 PITX1 PITX2 PITX3
7 vision/eye MP:0005391 9.23 B3GLCT CAPRIN2 FOXC1 PAX6 PITX2 PITX3

Drugs & Therapeutics for Axenfeld-Rieger Syndrome, Type 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Prospective, Randomized, Double Blind Comparative Study on the Use of Two Creams in Xerosis Atopic Probands Biomedical Findings With Vitreoscilla Filiformis Completed NCT00509535 vitreoscilla filiformis cream

Search 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:

40
Eye, Skin, Heart, Pituitary

Publications for Axenfeld-Rieger Syndrome, Type 1

Articles related to Axenfeld-Rieger Syndrome, Type 1:

(show top 50) (show all 55)
# Title Authors PMID Year
1
Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome. 56 54 6
8944018 1996
2
Whole exome sequencing identifies a heterozygous missense variant in the PRDM5 gene in a family with Axenfeld-Rieger syndrome. 6
26489929 2016
3
Novel expression and transcriptional regulation of FoxJ1 during oro-facial morphogenesis. 6
18723525 2008
4
Molecular and developmental mechanisms of anterior segment dysgenesis. 56
17914434 2007
5
Is SHORT syndrome another phenotypic variation of PITX2? 56
15481036 2004
6
Dominant negative dimerization of a mutant homeodomain protein in Axenfeld-Rieger syndrome. 6
12612071 2003
7
Molecular genetics of Axenfeld-Rieger malformations. 56
12015277 2002
8
Anterior segment dysgenesis and the developmental glaucomas are complex traits. 56
12015278 2002
9
A molecular basis for differential developmental anomalies in Axenfeld-Rieger syndrome. 56
11929847 2002
10
Functional analyses of two newly identified PITX2 mutants reveal a novel molecular mechanism for Axenfeld-Rieger syndrome. 6
11487566 2001
11
Identification of a dominant negative homeodomain mutation in Rieger syndrome. 6
11301317 2001
12
Axenfeld-Rieger syndrome in the age of molecular genetics. 56
11004268 2000
13
The molecular basis of Rieger syndrome. Analysis of Pitx2 homeodomain protein activities. 6
9685346 1998
14
Rieger syndrome locus: a new reciprocal translocation t(4;12)(q25;q15) and a deletion del(4)(q25q27) both break between markers D4S2945 and D4S193. 56
9132488 1997
15
Autosomal-dominant iridogoniodysgenesis and Axenfeld-Rieger syndrome are genetically distinct. 56
8942889 1996
16
Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25). 56
7581385 1995
17
Rieger syndrome with de novo reciprocal translocation t(1;4) (q23.1;q25). 56
7645592 1995
18
Periumbilical skin length measurements in the newborn. 56
7628123 1995
19
Genetic heterogeneity in Rieger eye malformation. 56
8071964 1994
20
Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4. 56
1303248 1992
21
Evidence that Rieger syndrome maps to 4q25 or 4q27. 56
1583647 1992
22
Rieger syndrome and interstitial 4q26 deletion. 56
1388934 1992
23
The Rieger anomaly concomitant with multiple dental, craniofacial, and somatic midline anomalies and short stature. 56
2594319 1989
24
Deletion of a single chromosome band 4q26 in a malformed girl: exclusion of Rieger syndrome associated gene(s) from the 4q26 segment. 56
3184142 1988
25
Herwigh Rieger, 2 May 1898-1 February 1986. 56
3321987 1987
26
Umbilical dysmorphology. The importance of contemplating the belly button. 56
4064369 1985
27
A case of partial monosomy 21q22.2 associated with Rieger's syndrome. 56
6431108 1984
28
Autosomal dominant iridogoniodysgenesis with associated somatic anomalies: four-generation family with Rieger's syndrome. 56
6871144 1983
29
The Rieger syndrome: a heritable disorder associated with glaucoma. 56
7176295 1982
30
Interstitial deletion 4q and Rieger syndrome. 56
7333027 1981
31
The Axenfeld syndrome and the Rieger syndrome. 56
416212 1978
32
The Rieger syndrome. 56
263445 1978
33
Autosomal dominant transmission of isolated growth hormone deficiency in iris-dental dysplasia (Rieger's syndrome). 56
4214375 1974
34
Iris dysplasia, orbital hypertelorism, and psychomotor retardation: a dominantly inherited developmental syndrome. 56
4633364 1973
35
Rieger's syndrome. 56
5346635 1969
36
Iris dysgenesis with other anomalies. 56
6029228 1967
37
Inherited variation in Rieger's malformation. 56
4953922 1965
38
Cytogenetically invisible microdeletions involving PITX2 in Rieger syndrome. 54 61
17850355 2007
39
A mutation in the RIEG1 gene associated with Peters' anomaly. 54 61
10051017 1999
40
Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome. 61 54
9618168 1998
41
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 61
9328475 1997
42
PITX2 deficiency and associated human disease: insights from the zebrafish model. 61
29506241 2018
43
Longitudinal observation of a patient with Rieger syndrome and interstitial deletion 4 (q25-q31.1). 54
20358612 2010
44
Multifunctional role of the Pitx2 homeodomain protein C-terminal tail. 54
10490637 1999
45
Histopathology and molecular basis of iridogoniodysgenesis syndrome. 54
10420192 1999
46
Ocular malformations and developmental genes. 61
10532715 1998
47
[Hereditary diseases with tooth anomalies and their causal genes]. 54
9711025 1998
48
A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD. 54
9620774 1998
49
The PTX family of homeodomain transcription factors during pituitary developments. 54
9722165 1998
50
Identification and characterization of the ARP1 gene, a target for the human acute leukemia ALL1 gene. 54
9539779 1998

Variations for Axenfeld-Rieger Syndrome, Type 1

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

6 (show top 50) (show all 92) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PITX2 NM_000325.6(PITX2):c.534C>G (p.Tyr178Ter)SNV Pathogenic 639456 4:111539722-111539722 4:110618566-110618566
2 PITX2 NM_000325.6(PITX2):c.416G>C (p.Trp139Ser)SNV Pathogenic 647394 4:111539840-111539840 4:110618684-110618684
3 PITX2 NM_000325.6(PITX2):c.411+2T>GSNV Pathogenic 662470 4:111542318-111542318 4:110621162-110621162
4 PITX2 NM_000325.6(PITX2):c.411+1G>ASNV Pathogenic 695068 4:111542319-111542319 4:110621163-110621163
5 PITX2 NC_000004.12:g.(?_110618105)_(110633018_?)deldeletion Pathogenic 832808 4:111539261-111554174
6 PITX2 NM_000325.6(PITX2):c.373del (p.Ile125fs)deletion Pathogenic 844916 4:111542358-111542358 4:110621202-110621202
7 PITX2 NM_000325.6(PITX2):c.264del (p.Lys89fs)deletion Pathogenic 837823 4:111542467-111542467 4:110621311-110621311
8 PITX2 NM_000325.6(PITX2):c.320T>A (p.Leu107Gln)SNV Pathogenic 8083 rs104893857 4:111542411-111542411 4:110621255-110621255
9 PITX2 NM_000325.6(PITX2):c.411+5G>CSNV Pathogenic 8084 rs1560590094 4:111542315-111542315 4:110621159-110621159
10 PITX2 NM_000325.6(PITX2):c.361A>C (p.Thr121Pro)SNV Pathogenic 8085 rs104893858 4:111542370-111542370 4:110621214-110621214
11 PITX2 NM_000325.6(PITX2):c.412-11A>GSNV Pathogenic 8086 rs1198152064 4:111539855-111539855 4:110618699-110618699
12 PITX2 NM_000325.6(PITX2):c.431G>C (p.Arg144Pro)SNV Pathogenic 8087 rs104893859 4:111539825-111539825 4:110618669-110618669
13 PITX2 NM_000325.6(PITX2):c.558G>A (p.Trp186Ter)SNV Pathogenic 8088 rs104893860 4:111539698-111539698 4:110618542-110618542
14 PITX2 NM_000325.6(PITX2):c.406G>C (p.Val136Leu)SNV Pathogenic 8092 rs121909249 4:111542325-111542325 4:110621169-110621169
15 PITX2 PITX2, 21-BP DUP, NT713duplication Pathogenic 8093
16 PITX2 NM_000325.6(PITX2):c.421A>G (p.Lys141Glu)SNV Pathogenic 30197 rs387906810 4:111539835-111539835 4:110618679-110618679
17 PITX2 NC_000004.12:g.(?_110618049)_(110622472_?)deldeletion Pathogenic 375443 4:111539205-111543628 4:110618049-110622472
18 PITX2 NM_000325.6(PITX2):c.807T>A (p.Cys269Ter)SNV Pathogenic 375442 rs1057519489 4:111539449-111539449 4:110618293-110618293
19 PITX2 NM_000325.6(PITX2):c.784_785del (p.Ser262fs)deletion Pathogenic 375441 rs1057519488 4:111539471-111539472 4:110618315-110618316
20 PITX2 NM_000325.6(PITX2):c.714_735del (p.Thr239fs)deletion Pathogenic 375440 rs1057519487 4:111539521-111539542 4:110618365-110618386
21 PITX2 NM_000325.6(PITX2):c.343_364del (p.Arg115fs)deletion Pathogenic 375436 rs1057519483 4:111542367-111542388 4:110621211-110621232
22 PITX2 NM_000325.6(PITX2):c.350C>T (p.Pro117Leu)SNV Pathogenic 375437 rs1057519484 4:111542381-111542381 4:110621225-110621225
23 PITX2 GRCh37/hg19 4q25(chr4:111528916-111888401)x1copy number loss Pathogenic 375444 4:111426357-111990971
24 PITX2 NM_000325.6(PITX2):c.361dup (p.Thr121fs)duplication Likely pathogenic 474010 rs1553922891 4:111542369-111542370 4:110621213-110621214
25 PITX2 NC_000004.12:g.(?_110618181)_(110621345_?)deldeletion Likely pathogenic 474009 4:111539337-111542501 4:110618181-110621345
26 PITX2 NM_000325.6(PITX2):c.412-2A>GSNV Likely pathogenic 474011 rs1553922583 4:111539846-111539846 4:110618690-110618690
27 PITX2 NM_000325.6(PITX2):c.619A>G (p.Met207Val)SNV Conflicting interpretations of pathogenicity 559593 rs138163892 4:111539637-111539637 4:110618481-110618481
28 PITX2 NM_153427.2(PITX2):c.-79G>ASNV Conflicting interpretations of pathogenicity 900591 4:111558005-111558005 4:110636849-110636849
29 PITX2 NM_153427.2(PITX2):c.-211G>ASNV Conflicting interpretations of pathogenicity 902274 4:111558137-111558137 4:110636981-110636981
30 PITX2 NM_153427.2(PITX2):c.-793C>ASNV Conflicting interpretations of pathogenicity 902484 4:111558719-111558719 4:110637563-110637563
31 PITX2 NM_153427.2(PITX2):c.-967C>TSNV Conflicting interpretations of pathogenicity 900892 4:111558893-111558893 4:110637737-110637737
32 PITX2 NM_153427.2(PITX2):c.-1532C>ASNV Conflicting interpretations of pathogenicity 901637 4:111563222-111563222 4:110642066-110642066
33 PITX2 NM_000325.6(PITX2):c.639A>T (p.Ser213=)SNV Conflicting interpretations of pathogenicity 283383 rs141176394 4:111539617-111539617 4:110618461-110618461
34 PITX2 NM_000325.6(PITX2):c.*340A>GSNV Conflicting interpretations of pathogenicity 347294 rs551209662 4:111538941-111538941 4:110617785-110617785
35 PITX2 NM_000325.6(PITX2):c.862C>T (p.Leu288=)SNV Conflicting interpretations of pathogenicity 347298 rs139401187 4:111539394-111539394 4:110618238-110618238
36 PITX2 NM_000325.6(PITX2):c.224A>C (p.Gln75Pro)SNV Conflicting interpretations of pathogenicity 347300 rs201628949 4:111542507-111542507 4:110621351-110621351
37 PITX2 NM_153427.2(PITX2):c.-1385+12T>CSNV Conflicting interpretations of pathogenicity 901581 4:111563063-111563063 4:110641907-110641907
38 PITX2 NM_000325.6(PITX2):c.433G>C (p.Ala145Pro)SNV Uncertain significance 375439 rs1057519486 4:111539823-111539823 4:110618667-110618667
39 PITX2 NM_000325.6(PITX2):c.430C>G (p.Arg144Gly)SNV Uncertain significance 375438 rs1057519485 4:111539826-111539826 4:110618670-110618670
40 PITX2 NM_000325.6(PITX2):c.*176A>TSNV Uncertain significance 347296 rs567517676 4:111539105-111539105 4:110617949-110617949
41 PITX2 NM_000325.6(PITX2):c.*119T>ASNV Uncertain significance 347297 rs765040142 4:111539162-111539162 4:110618006-110618006
42 PITX2 NM_000325.6(PITX2):c.*370G>CSNV Uncertain significance 347293 rs886059005 4:111538911-111538911 4:110617755-110617755
43 PITX2 NM_000325.6(PITX2):c.*264A>CSNV Uncertain significance 347295 rs886059006 4:111539017-111539017 4:110617861-110617861
44 PITX2 NM_000325.6(PITX2):c.*611A>GSNV Uncertain significance 347288 rs886059002 4:111538670-111538670 4:110617514-110617514
45 PITX2 NM_000325.6(PITX2):c.*522T>CSNV Uncertain significance 347290 rs188349821 4:111538759-111538759 4:110617603-110617603
46 PITX2 NM_000325.6(PITX2):c.*572T>CSNV Uncertain significance 347289 rs886059003 4:111538709-111538709 4:110617553-110617553
47 PRDM5 NM_018699.3(PRDM5):c.877A>G (p.Lys293Glu)SNV Uncertain significance 221286 rs779601690 4:121732593-121732593 4:120811438-120811438
48 PITX2 NM_000325.6(PITX2):c.412-7C>TSNV Uncertain significance 899414 4:111539851-111539851 4:110618695-110618695
49 PITX2 NM_153427.2(PITX2):c.-1137G>ASNV Uncertain significance 902615 4:111559063-111559063 4:110637907-110637907
50 PITX2 NM_153427.2(PITX2):c.-1209C>TSNV Uncertain significance 899850 4:111559135-111559135 4:110637979-110637979

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

73
# 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

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

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

# Super pathways Score Top Affiliating Genes
1 10.29 PITX2 FOXC1

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 nuclear chromatin GO:0000790 9.17 RAX PITX3 PITX2 PITX1 PAX6 FOXE3
2 transcription factor complex GO:0005667 9.13 PITX2 PITX1 FOXE3

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.95 RAX PITX3 PITX2 PITX1 PAX6 FOXC1
2 regulation of transcription, DNA-templated GO:0006355 9.95 RAX PITX3 PITX2 PITX1 PAX6 FOXE3
3 positive regulation of transcription by RNA polymerase II GO:0045944 9.8 RAX PITX3 PITX2 PITX1 PAX6 FOXC1
4 brain development GO:0007420 9.72 RAX PAX6 FOXC1
5 visual perception GO:0007601 9.71 RAX PAX6 CRYAA
6 eye development GO:0001654 9.54 PAX6 FOXE3 FOXC1
7 pituitary gland development GO:0021983 9.52 PITX1 PAX6
8 negative regulation of neurogenesis GO:0050768 9.51 PITX3 PAX6
9 lens development in camera-type eye GO:0002088 9.5 PITX3 PAX6 FOXE3
10 cornea development in camera-type eye GO:0061303 9.49 PAX6 FOXE3
11 positive regulation of core promoter binding GO:1904798 9.46 PAX6 FOXC1
12 lacrimal gland development GO:0032808 9.43 PAX6 FOXC1
13 anatomical structure morphogenesis GO:0009653 9.35 PITX3 PITX2 PITX1 FOXE3 FOXC1
14 iris morphogenesis GO:0061072 9.33 PITX2 PAX6 FOXE3
15 camera-type eye development GO:0043010 9.02 RAX PITX2 PAX6 FOXE3 FOXC1

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 GO:0003677 9.97 RAX PRDM5 PITX3 PITX2 PITX1 PAX6
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.73 RAX PRDM5 PITX3 PITX2 PITX1 PAX6
3 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.72 RAX PITX3 PITX1 PAX6 FOXC1
4 DNA-binding transcription factor activity GO:0003700 9.7 PRDM5 PITX3 PITX2 PITX1 PAX6 FOXE3
5 transcription regulatory region DNA binding GO:0044212 9.61 PRDM5 PAX6 FOXC1
6 RNA polymerase II transcription factor binding GO:0001085 9.58 PITX3 PITX2 PITX1
7 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.56 RAX PRDM5 PITX3 PITX2 PITX1 PAX6
8 sequence-specific DNA binding GO:0043565 9.23 RAX PRDM5 PITX3 PITX2 PITX1 PAX6

Sources for Axenfeld-Rieger Syndrome, Type 1

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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