RIEG1
MCID: AXN009
MIFTS: 48

Axenfeld-Rieger Syndrome, Type 1 (RIEG1)

Categories: Ear diseases, 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 57 13 39 70
Axenfeld-Rieger Syndrome Type 1 12 29 6 15
Rieg1 57 12 72
Rieg 57 72 54
Rieger Syndrome Type 1 12 72
Rgs 57 72
Iridogoniodysgenesis with Somatic Anomalies 72
Axenfeld-Rieger Syndrome 1 72
Rieger Syndrome, Type 1 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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® : 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) (Updated 05-Apr-2021)

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 4. 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, heart and skin, 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 : 72 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 126)
# Related Disease Score Top Affiliating Genes
1 axenfeld-rieger syndrome, type 2 31.8 PITX2 FOXC1
2 anterior segment dysgenesis 4 30.2 PITX2 FOXC1 CRYAA
3 anterior segment dysgenesis 2 30.1 PITX3 FOXE3
4 axenfeld-rieger syndrome 29.8 RAX PRDM5 PITX3 PITX2 PITX1 PAX6
5 anterior segment dysgenesis 28.6 PITX3 PITX2 PAX6 FOXE3 FOXC1 CRYAA
6 peters-plus syndrome 28.6 PITX3 PITX2 PAX6 FOXE3 FOXC1 CRYAA
7 pertussis 10.3
8 ayme-gripp syndrome 10.2 PITX3 CRYAA
9 glaucoma-related pigment dispersion syndrome 10.2 PITX2 FOXC1
10 cataract 11, multiple types 10.2 PITX3 CRYAA
11 cataract 16, multiple types 10.2 PITX3 CRYAA
12 microphthalmia, syndromic 2 10.2 PITX2 CRYAA
13 otopalatodigital syndrome, type ii 10.2 PITX2 FOXC1
14 posterior polar cataract 10.2 PITX3 CRYAA
15 generalized epilepsy with febrile seizures plus 10.2
16 phacogenic glaucoma 10.2 FOXC1 CRYAA
17 megalocornea 10.2 PITX2 FOXC1
18 orbital cyst 10.2 RAX FOXE3
19 isolated microphthalmia 10.1 RAX FOXE3
20 eye accommodation disease 10.1 FOXE3 CRYAA
21 phacolytic glaucoma 10.1 FOXE3 B3GLCT
22 retinitis pigmentosa 10.1
23 neuroretinitis 10.1
24 sick sinus syndrome 10.1
25 retinitis 10.1
26 cornea plana 10.1 PITX2 FOXC1 CRYAA
27 microphthalmia, syndromic 8 10.1 RAX PAX6
28 microphthalmia, isolated 3 10.1 RAX PAX6
29 microphthalmia, syndromic 6 10.1 RAX PAX6
30 anisometropia 10.1 PAX6 CRYAA
31 microphthalmia, isolated 2 10.0 RAX PAX6
32 isolated aniridia 10.0 PAX6 FOXC1
33 disuse amblyopia 10.0 PITX3 FOXE3 CRYAA
34 ectropion 10.0 PAX6 CRYAA
35 vitreous disease 10.0 PAX6 CRYAA
36 exotropia 10.0 PAX6 CRYAA
37 papillorenal syndrome 10.0 PAX6 CRYAA
38 lymphedema-distichiasis syndrome 10.0 FOXE3 FOXC1
39 lens subluxation 10.0 PAX6 CRYAA
40 eyelid disease 10.0 PAX6 CRYAA
41 triiodothyronine receptor auxiliary protein 10.0
42 retinitis pigmentosa 12 10.0
43 sinoatrial node disease 10.0
44 cryptococcosis 10.0
45 alcohol use disorder 10.0
46 neuroblastoma 10.0
47 congenital nystagmus 9.9 PAX6 CRYAA
48 plague 9.9
49 acquired color blindness 9.9 PITX2 PAX6 FOXC1
50 hydrophthalmos 9.9 PITX2 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 rieger anomaly 31 HP:0000558
18 abnormality of the abdominal wall 31 HP:0004298
19 abnormally prominent line of schwalbe 31 HP:0007873
20 decreased response to growth hormone stimuation test 31 HP:0000824
21 polycoria 31 HP:0011500

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.86 B3GLCT FOXC1 PAX6 PITX1 PITX2 PITX3
2 craniofacial MP:0005382 9.85 B3GLCT FOXC1 PAX6 PITX1 PITX2 RAX
3 digestive/alimentary MP:0005381 9.8 B3GLCT FOXC1 PAX6 PITX1 PITX2 RAX
4 pigmentation MP:0001186 9.55 B3GLCT FOXC1 PAX6 PITX2 PITX3
5 skeleton MP:0005390 9.5 B3GLCT FOXC1 PAX6 PITX1 PITX2 PITX3
6 vision/eye MP:0005391 9.23 B3GLCT CAPRIN2 FOXC1 PAX6 PITX2 PITX3

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:

40
Eye, Heart, Skin, Pituitary

Publications for Axenfeld-Rieger Syndrome, Type 1

Articles related to Axenfeld-Rieger Syndrome, Type 1:

(show top 50) (show all 62)
# Title Authors PMID Year
1
Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome. 54 57 6
8944018 1996
2
Multifunctional role of the Pitx2 homeodomain protein C-terminal tail. 54 6
10490637 1999
3
4q25 microdeletion encompassing PITX2: A patient presenting with tetralogy of Fallot and dental anomalies without ocular features. 6
29100920 2018
4
PITX2 and FOXC1 spectrum of mutations in ocular syndromes. 6
22569110 2012
5
Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations. 6
20881294 2011
6
Novel expression and transcriptional regulation of FoxJ1 during oro-facial morphogenesis. 6
18723525 2008
7
Chromatin-associated HMG-17 is a major regulator of homeodomain transcription factor activity modulated by Wnt/beta-catenin signaling. 6
18045789 2008
8
A novel PITX2 mutation in a Chinese family with Axenfeld-Rieger syndrome. 6
19052653 2008
9
Molecular and developmental mechanisms of anterior segment dysgenesis. 57
17914434 2007
10
Identification of four new PITX2 gene mutations in patients with Axenfeld-Rieger syndrome. 6
17167399 2006
11
An unusual class of PITX2 mutations in Axenfeld-Rieger syndrome. 6
16498627 2006
12
PITX2, beta-catenin and LEF-1 interact to synergistically regulate the LEF-1 promoter. 6
15728254 2005
13
Is SHORT syndrome another phenotypic variation of PITX2? 57
15481036 2004
14
Dominant negative dimerization of a mutant homeodomain protein in Axenfeld-Rieger syndrome. 6
12612071 2003
15
Molecular genetics of Axenfeld-Rieger malformations. 57
12015277 2002
16
Anterior segment dysgenesis and the developmental glaucomas are complex traits. 57
12015278 2002
17
A molecular basis for differential developmental anomalies in Axenfeld-Rieger syndrome. 57
11929847 2002
18
Functional analyses of two newly identified PITX2 mutants reveal a novel molecular mechanism for Axenfeld-Rieger syndrome. 6
11487566 2001
19
Identification of a dominant negative homeodomain mutation in Rieger syndrome. 6
11301317 2001
20
Axenfeld-Rieger syndrome in the age of molecular genetics. 57
11004268 2000
21
The molecular basis of Rieger syndrome. Analysis of Pitx2 homeodomain protein activities. 6
9685346 1998
22
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. 57
9132488 1997
23
Autosomal-dominant iridogoniodysgenesis and Axenfeld-Rieger syndrome are genetically distinct. 57
8942889 1996
24
Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25). 57
7581385 1995
25
Rieger syndrome with de novo reciprocal translocation t(1;4) (q23.1;q25). 57
7645592 1995
26
Periumbilical skin length measurements in the newborn. 57
7628123 1995
27
Genetic heterogeneity in Rieger eye malformation. 57
8071964 1994
28
Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4. 57
1303248 1992
29
Evidence that Rieger syndrome maps to 4q25 or 4q27. 57
1583647 1992
30
Rieger syndrome and interstitial 4q26 deletion. 57
1388934 1992
31
The Rieger anomaly concomitant with multiple dental, craniofacial, and somatic midline anomalies and short stature. 57
2594319 1989
32
Deletion of a single chromosome band 4q26 in a malformed girl: exclusion of Rieger syndrome associated gene(s) from the 4q26 segment. 57
3184142 1988
33
Herwigh Rieger, 2 May 1898-1 February 1986. 57
3321987 1987
34
Umbilical dysmorphology. The importance of contemplating the belly button. 57
4064369 1985
35
A case of partial monosomy 21q22.2 associated with Rieger's syndrome. 57
6431108 1984
36
Autosomal dominant iridogoniodysgenesis with associated somatic anomalies: four-generation family with Rieger's syndrome. 57
6871144 1983
37
The Rieger syndrome: a heritable disorder associated with glaucoma. 57
7176295 1982
38
Interstitial deletion 4q and Rieger syndrome. 57
7333027 1981
39
The Axenfeld syndrome and the Rieger syndrome. 57
416212 1978
40
The Rieger syndrome. 57
263445 1978
41
Autosomal dominant transmission of isolated growth hormone deficiency in iris-dental dysplasia (Rieger's syndrome). 57
4214375 1974
42
Iris dysplasia, orbital hypertelorism, and psychomotor retardation: a dominantly inherited developmental syndrome. 57
4633364 1973
43
Rieger's syndrome. 57
5346635 1969
44
Iris dysgenesis with other anomalies. 57
6029228 1967
45
Inherited variation in Rieger's malformation. 57
4953922 1965
46
Cytogenetically invisible microdeletions involving PITX2 in Rieger syndrome. 54 61
17850355 2007
47
A mutation in the RIEG1 gene associated with Peters' anomaly. 61 54
10051017 1999
48
Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome. 54 61
9618168 1998
49
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
50
PITX2 deficiency and associated human disease: insights from the zebrafish model. 61
29506241 2018

Variations for Axenfeld-Rieger Syndrome, Type 1

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

6 (show top 50) (show all 100)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PITX2 NM_000325.6(PITX2):c.320T>A (p.Leu107Gln) SNV Pathogenic 8083 rs104893857 GRCh37: 4:111542411-111542411
GRCh38: 4:110621255-110621255
2 PITX2 NM_000325.6(PITX2):c.411+5G>C SNV Pathogenic 8084 rs1560590094 GRCh37: 4:111542315-111542315
GRCh38: 4:110621159-110621159
3 PITX2 NM_000325.6(PITX2):c.361A>C (p.Thr121Pro) SNV Pathogenic 8085 rs104893858 GRCh37: 4:111542370-111542370
GRCh38: 4:110621214-110621214
4 PITX2 NM_000325.6(PITX2):c.412-11A>G SNV Pathogenic 8086 rs1198152064 GRCh37: 4:111539855-111539855
GRCh38: 4:110618699-110618699
5 PITX2 NM_000325.6(PITX2):c.431G>C (p.Arg144Pro) SNV Pathogenic 8087 rs104893859 GRCh37: 4:111539825-111539825
GRCh38: 4:110618669-110618669
6 PITX2 NM_000325.6(PITX2):c.558G>A (p.Trp186Ter) SNV Pathogenic 8088 rs104893860 GRCh37: 4:111539698-111539698
GRCh38: 4:110618542-110618542
7 PITX2 NM_000325.6(PITX2):c.406G>C (p.Val136Leu) SNV Pathogenic 8092 rs121909249 GRCh37: 4:111542325-111542325
GRCh38: 4:110621169-110621169
8 PITX2 PITX2, 21-BP DUP, NT713 Duplication Pathogenic 8093 GRCh37:
GRCh38:
9 PITX2 NM_000325.6(PITX2):c.421A>G (p.Lys141Glu) SNV Pathogenic 30197 rs387906810 GRCh37: 4:111539835-111539835
GRCh38: 4:110618679-110618679
10 PITX2 NM_000325.6(PITX2):c.343_364del (p.Arg115fs) Deletion Pathogenic 375436 rs1057519483 GRCh37: 4:111542367-111542388
GRCh38: 4:110621211-110621232
11 PITX2 NM_000325.6(PITX2):c.807T>A (p.Cys269Ter) SNV Pathogenic 375442 rs1057519489 GRCh37: 4:111539449-111539449
GRCh38: 4:110618293-110618293
12 PITX2 NM_000325.6(PITX2):c.350C>T (p.Pro117Leu) SNV Pathogenic 375437 rs1057519484 GRCh37: 4:111542381-111542381
GRCh38: 4:110621225-110621225
13 PITX2 NC_000004.12:g.(?_110618049)_(110622472_?)del Deletion Pathogenic 375443 GRCh37: 4:111539205-111543628
GRCh38: 4:110618049-110622472
14 PITX2 NM_000325.6(PITX2):c.714_735del (p.Thr239fs) Deletion Pathogenic 375440 rs1057519487 GRCh37: 4:111539521-111539542
GRCh38: 4:110618365-110618386
15 PITX2 NM_000325.6(PITX2):c.784_785del (p.Ser262fs) Deletion Pathogenic 375441 rs1057519488 GRCh37: 4:111539471-111539472
GRCh38: 4:110618315-110618316
16 overlap with 2 genes GRCh37/hg19 4q25(chr4:111528916-111888401)x1 copy number loss Pathogenic 375444 GRCh37: 4:111426357-111990971
GRCh38:
17 PITX2 NM_000325.6(PITX2):c.534C>G (p.Tyr178Ter) SNV Pathogenic 639456 rs1578446544 GRCh37: 4:111539722-111539722
GRCh38: 4:110618566-110618566
18 PITX2 NM_000325.6(PITX2):c.416G>C (p.Trp139Ser) SNV Pathogenic 647394 rs772800095 GRCh37: 4:111539840-111539840
GRCh38: 4:110618684-110618684
19 PITX2 NM_000325.6(PITX2):c.411+1G>A SNV Pathogenic 695068 GRCh37: 4:111542319-111542319
GRCh38: 4:110621163-110621163
20 PITX2 NC_000004.12:g.(?_110618105)_(110633018_?)del Deletion Pathogenic 832808 GRCh37: 4:111539261-111554174
GRCh38:
21 PITX2 NM_000325.6(PITX2):c.264del (p.Lys89fs) Deletion Pathogenic 837823 GRCh37: 4:111542467-111542467
GRCh38: 4:110621311-110621311
22 PITX2 NM_000325.6(PITX2):c.373del (p.Ile125fs) Deletion Pathogenic 844916 GRCh37: 4:111542358-111542358
GRCh38: 4:110621202-110621202
23 PITX2 NM_000325.6(PITX2):c.411+2T>G SNV Pathogenic 662470 rs1578450728 GRCh37: 4:111542318-111542318
GRCh38: 4:110621162-110621162
24 PITX2 NM_000325.6(PITX2):c.522_523delinsAA (p.Tyr174_Asp175delinsTer) Indel Pathogenic 937285 GRCh37: 4:111539733-111539734
GRCh38: 4:110618577-110618578
25 PITX2 NM_000325.6(PITX2):c.383G>A (p.Trp128Ter) SNV Pathogenic 946640 GRCh37: 4:111542348-111542348
GRCh38: 4:110621192-110621192
26 PITX2 NM_000325.6(PITX2):c.361dup (p.Thr121fs) Duplication Likely pathogenic 474010 rs1553922891 GRCh37: 4:111542369-111542370
GRCh38: 4:110621213-110621214
27 PITX2 NM_000325.6(PITX2):c.412-2A>G SNV Likely pathogenic 474011 rs1553922583 GRCh37: 4:111539846-111539846
GRCh38: 4:110618690-110618690
28 PITX2 NC_000004.12:g.(?_110618181)_(110621345_?)del Deletion Likely pathogenic 474009 GRCh37: 4:111539337-111542501
GRCh38: 4:110618181-110621345
29 PITX2 NM_000325.6(PITX2):c.433G>C (p.Ala145Pro) SNV Uncertain significance 375439 rs1057519486 GRCh37: 4:111539823-111539823
GRCh38: 4:110618667-110618667
30 PITX2 NM_000325.6(PITX2):c.916G>A (p.Val306Met) SNV Uncertain significance 648326 rs760790139 GRCh37: 4:111539340-111539340
GRCh38: 4:110618184-110618184
31 PITX2 NM_000325.6(PITX2):c.430C>G (p.Arg144Gly) SNV Uncertain significance 375438 rs1057519485 GRCh37: 4:111539826-111539826
GRCh38: 4:110618670-110618670
32 PITX2 NM_000325.6(PITX2):c.412-11del Deletion Uncertain significance 347299 rs886059007 GRCh37: 4:111539855-111539855
GRCh38: 4:110618699-110618699
33 PITX2 NM_000325.6(PITX2):c.*370G>C SNV Uncertain significance 347293 rs886059005 GRCh37: 4:111538911-111538911
GRCh38: 4:110617755-110617755
34 PRDM5 NM_018699.3(PRDM5):c.877A>G (p.Lys293Glu) SNV Uncertain significance 221286 rs779601690 GRCh37: 4:121732593-121732593
GRCh38: 4:120811438-120811438
35 PITX2 NM_000325.6(PITX2):c.*373_*375GTT[1] Microsatellite Uncertain significance 347292 rs886059004 GRCh37: 4:111538903-111538905
GRCh38: 4:110617747-110617749
36 PITX2 NM_000325.6(PITX2):c.*611A>G SNV Uncertain significance 347288 rs886059002 GRCh37: 4:111538670-111538670
GRCh38: 4:110617514-110617514
37 PITX2 NM_000325.6(PITX2):c.*572T>C SNV Uncertain significance 347289 rs886059003 GRCh37: 4:111538709-111538709
GRCh38: 4:110617553-110617553
38 PITX2 NM_000325.6(PITX2):c.*119T>A SNV Uncertain significance 347297 rs765040142 GRCh37: 4:111539162-111539162
GRCh38: 4:110618006-110618006
39 PITX2 NM_000325.6(PITX2):c.*264A>C SNV Uncertain significance 347295 rs886059006 GRCh37: 4:111539017-111539017
GRCh38: 4:110617861-110617861
40 PITX2 NM_000325.6(PITX2):c.*176A>T SNV Uncertain significance 347296 rs567517676 GRCh37: 4:111539105-111539105
GRCh38: 4:110617949-110617949
41 PITX2 NM_000325.6(PITX2):c.282G>T (p.Arg94=) SNV Uncertain significance 900537 GRCh37: 4:111542449-111542449
GRCh38: 4:110621293-110621293
42 PITX2 NM_153427.2(PITX2):c.-53G>A SNV Uncertain significance 899458 GRCh37: 4:111557979-111557979
GRCh38: 4:110636823-110636823
43 PITX2 NM_153427.2(PITX2):c.-300A>T SNV Uncertain significance 900657 GRCh37: 4:111558226-111558226
GRCh38: 4:110637070-110637070
44 PITX2 NM_153427.2(PITX2):c.-436G>C SNV Uncertain significance 899597 GRCh37: 4:111558362-111558362
GRCh38: 4:110637206-110637206
45 PITX2 NM_153427.2(PITX2):c.-483C>T SNV Uncertain significance 900734 GRCh37: 4:111558409-111558409
GRCh38: 4:110637253-110637253
46 PITX2 NM_153427.2(PITX2):c.-515C>T SNV Uncertain significance 899666 GRCh37: 4:111558441-111558441
GRCh38: 4:110637285-110637285
47 PITX2 NM_153427.2(PITX2):c.-670C>T SNV Uncertain significance 900813 GRCh37: 4:111558596-111558596
GRCh38: 4:110637440-110637440
48 PITX2 NM_153427.2(PITX2):c.-1491G>A SNV Uncertain significance 901089 GRCh37: 4:111563181-111563181
GRCh38: 4:110642025-110642025
49 PITX2 NM_000325.6(PITX2):c.*696A>C SNV Uncertain significance 901346 GRCh37: 4:111538585-111538585
GRCh38: 4:110617429-110617429
50 PITX2 NM_000325.6(PITX2):c.*107A>C SNV Uncertain significance 901514 GRCh37: 4:111539174-111539174
GRCh38: 4:110618018-110618018

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

72
# 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 chromatin GO:0000785 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 16)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 9.98 RAX PITX3 PITX2 PITX1 PAX6 FOXE3
2 multicellular organism development GO:0007275 9.97 RAX PITX3 PITX2 PITX1 PAX6 FOXC1
3 regulation of transcription, DNA-templated GO:0006355 9.91 RAX PITX3 PITX2 PITX1 PAX6 FOXE3
4 positive regulation of transcription by RNA polymerase II GO:0045944 9.8 RAX PITX3 PITX2 PITX1 PAX6 FOXC1
5 brain development GO:0007420 9.73 RAX PAX6 FOXC1
6 visual perception GO:0007601 9.72 RAX PAX6 CRYAA
7 eye development GO:0001654 9.58 PAX6 FOXE3 FOXC1
8 pituitary gland development GO:0021983 9.54 PITX1 PAX6
9 negative regulation of neurogenesis GO:0050768 9.52 PITX3 PAX6
10 cornea development in camera-type eye GO:0061303 9.51 PAX6 FOXE3
11 lens development in camera-type eye GO:0002088 9.5 PITX3 PAX6 FOXE3
12 positive regulation of core promoter binding GO:1904798 9.48 PAX6 FOXC1
13 lacrimal gland development GO:0032808 9.46 PAX6 FOXC1
14 anatomical structure morphogenesis GO:0009653 9.35 PITX3 PITX2 PITX1 FOXE3 FOXC1
15 iris morphogenesis GO:0061072 9.33 PITX2 PAX6 FOXE3
16 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 9.86 RAX PRDM5 PITX3 PITX2 PITX1 PAX6
2 sequence-specific double-stranded DNA binding GO:1990837 9.77 RAX PITX3 PITX2 PITX1 PAX6
3 sequence-specific DNA binding GO:0043565 9.73 PRDM5 PAX6 FOXE3 FOXC1
4 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.72 RAX PITX3 PITX1 PAX6 FOXC1
5 transcription regulatory region sequence-specific DNA binding GO:0000976 9.71 PRDM5 PITX2 PAX6 FOXC1
6 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.7 RAX PITX3 PITX2 PITX1 PAX6 FOXE3
7 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.56 RAX PRDM5 PITX3 PITX2 PITX1 PAX6
8 DNA-binding transcription factor activity GO:0003700 9.17 PRDM5 PITX3 PITX2 PITX1 PAX6 FOXE3

Sources for Axenfeld-Rieger Syndrome, Type 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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