RIEG1
MCID: AXN009
MIFTS: 47

Axenfeld-Rieger Syndrome, Type 1 (RIEG1) malady

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

Aliases & Classifications for Axenfeld-Rieger Syndrome, Type 1

Aliases & Descriptions for Axenfeld-Rieger Syndrome, Type 1:

Name: Axenfeld-Rieger Syndrome, Type 1 54 24 13 69
Rieg1 12 24 66
Axenfeld-Rieger Syndrome Type 1 12 14
Axenfeld-Rieger Syndrome 1 66 29
Rieger Syndrome Type 1 12 66
Rieg 66 52
Iridogoniodysgenesis with Somatic Anomalies 66
Rieger Syndrome, Type 1 24
Rgs 66

Characteristics:

HPO:

32
axenfeld-rieger syndrome, type 1:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course variable expressivity


Classifications:



External Ids:

OMIM 54 180500
Disease Ontology 12 DOID:0110120
ICD10 33 Q13.8
MeSH 42 D005124

Summaries for Axenfeld-Rieger Syndrome, Type 1

OMIM : 54 Axenfeld-Rieger syndrome is an autosomal dominant disorder of morphogenesis that results in abnormal development of the... (180500) more...

MalaCards based summary : Axenfeld-Rieger Syndrome, Type 1, also known as rieg1, is related to axenfeld-rieger syndrome, type 3 and rieger syndrome, type 2, and has symptoms including prominent supraorbital ridges, wide nasal bridge and strabismus. 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 eye, skin and brain, and related phenotypes are cardiovascular system and endocrine/exocrine gland

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 : 66 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

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 by clinical synopsis from OMIM:

180500

Clinical features from OMIM:

180500

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

32 (show all 21)
id 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:

44 (show all 17)
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.27 BMP4 CRX FGF8 PAX2 PAX6 PITX1
2 endocrine/exocrine gland MP:0005379 10.22 BMP4 FGF8 FOXL2 HESX1 PAX2 PAX6
3 growth/size/body region MP:0005378 10.21 PITX3 SHH SHOX2 HESX1 PAX6 PITX1
4 craniofacial MP:0005382 10.16 BMP4 FGF8 HESX1 PAX6 PITX1 PITX2
5 mortality/aging MP:0010768 10.16 BMP4 FGF8 FOXL2 HESX1 PAX2 PAX6
6 embryo MP:0005380 10.14 BMP4 FGF8 HESX1 PAX2 PAX6 PITX1
7 nervous system MP:0003631 10.14 BMP4 CRX FGF8 HESX1 PAX2 PAX6
8 digestive/alimentary MP:0005381 10.09 BMP4 FGF8 PAX6 PITX1 PITX2 SHH
9 hearing/vestibular/ear MP:0005377 10.04 BMP4 FGF8 HESX1 PAX2 PAX6 PITX1
10 limbs/digits/tail MP:0005371 9.95 BMP4 FGF8 PITX1 PITX2 SHH SHOX2
11 muscle MP:0005369 9.91 PITX2 SHH BMP4 FGF8 PAX6 PITX1
12 normal MP:0002873 9.91 BMP4 FGF8 FOXL2 HESX1 PAX6 PITX2
13 reproductive system MP:0005389 9.86 BMP4 FGF8 FOXL2 PAX2 PAX6 PITX2
14 pigmentation MP:0001186 9.72 PAX6 PITX2 PITX3 CRX PAX2
15 respiratory system MP:0005388 9.7 BMP4 FGF8 HESX1 PAX6 PITX2 PITX3
16 skeleton MP:0005390 9.56 BMP4 FGF8 PAX6 PITX1 PITX2 PITX3
17 vision/eye MP:0005391 9.32 PAX6 PITX2 PITX3 SHH BMP4 CRX

Drugs & Therapeutics for Axenfeld-Rieger Syndrome, Type 1

Interventional clinical trials:


id Name Status NCT ID Phase
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

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:

id Genetic test Affiliating Genes
1 Axenfeld-Rieger Syndrome Type 1 29
2 Axenfeld-Rieger Syndrome, Type 1 24 PITX2

Anatomical Context for Axenfeld-Rieger Syndrome, Type 1

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

39
Eye, Skin, Brain

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:

66
id 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
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 16)
id Gene Variation Type Significance SNP ID Assembly Location
1 PITX2 NM_153427.2(PITX2): c.399G> A (p.Trp133Ter) single nucleotide variant Pathogenic rs104893860 GRCh37 Chromosome 4, 111539698: 111539698
2 PITX2 NM_153427.2(PITX2): c.161T> A (p.Leu54Gln) single nucleotide variant Pathogenic rs104893857 GRCh37 Chromosome 4, 111542411: 111542411
3 PITX2 PITX2, IVS3DS, G-C, +5 single nucleotide variant Pathogenic
4 PITX2 NM_153427.2(PITX2): c.202A> C (p.Thr68Pro) single nucleotide variant Pathogenic rs104893858 GRCh37 Chromosome 4, 111542370: 111542370
5 PITX2 PITX2, IVS3AS, A-G, -11 single nucleotide variant Pathogenic
6 PITX2 NM_153427.2(PITX2): c.272G> C (p.Arg91Pro) single nucleotide variant Pathogenic rs104893859 GRCh37 Chromosome 4, 111539825: 111539825
7 PITX2 NM_153427.2(PITX2): c.247G> C (p.Val83Leu) single nucleotide variant Pathogenic rs121909249 GRCh37 Chromosome 4, 111542325: 111542325
8 PITX2 PITX2, 21-BP DUP, NT713 duplication Pathogenic
9 PITX2 NM_153427.2(PITX2): c.262A> G (p.Lys88Glu) single nucleotide variant Pathogenic rs387906810 GRCh37 Chromosome 4, 111539835: 111539835
10 PITX2 NC_000004.12: g.(?_110618049)_(110622472_?)del deletion Pathogenic GRCh37 Chromosome 4, 111539205: 111543628
11 PITX2 NM_153427.2(PITX2): c.648T> A (p.Cys216Ter) single nucleotide variant Pathogenic rs1057519489 GRCh38 Chromosome 4, 110618293: 110618293
12 PITX2 NM_153427.2(PITX2): c.625_626delTC (p.Ser209Argfs) deletion Pathogenic rs1057519488 GRCh38 Chromosome 4, 110618315: 110618316
13 PITX2 NM_153427.2(PITX2): c.555_576del22 (p.Thr186Serfs) deletion Pathogenic rs1057519487 GRCh37 Chromosome 4, 111539521: 111539542
14 PITX2 NM_153427.2(PITX2): c.184_205del22 (p.Arg62Alafs) deletion Pathogenic rs1057519483 GRCh38 Chromosome 4, 110621211: 110621232
15 PITX2 NM_153427.2(PITX2): c.191C> T (p.Pro64Leu) single nucleotide variant Pathogenic rs1057519484 GRCh38 Chromosome 4, 110621225: 110621225
16 PITX2 NC_000004.11 copy number loss Pathogenic GRCh37 Chromosome 4, 111426357: 111990971

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

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

(show top 50) (show all 74)
id Name GO ID Score Top Affiliating Genes
1 regulation of gene expression GO:0010468 9.98 BMP4 PAX6 PITX3 SHH
2 transcription from RNA polymerase II promoter GO:0006366 9.97 CRX FOXL2 PAX2 PAX6 PITX1 PITX2
3 heart development GO:0007507 9.96 BMP4 FGF8 PITX2 SHH SHOX2
4 skeletal system development GO:0001501 9.93 BMP4 PITX1 SHOX SHOX2
5 animal organ morphogenesis GO:0009887 9.91 CRX PAX6 PITX2 PITX3
6 kidney development GO:0001822 9.9 BMP4 FGF8 SHH
7 anatomical structure morphogenesis GO:0009653 9.89 FGF8 PITX1 PITX2
8 forebrain development GO:0030900 9.88 BMP4 PAX6 SHH
9 lung development GO:0030324 9.88 BMP4 FGF8 PITX2 SHH
10 determination of left/right symmetry GO:0007368 9.87 FGF8 PITX2 SHH
11 smoothened signaling pathway GO:0007224 9.87 BMP4 PAX6 SHH
12 odontogenesis of dentin-containing tooth GO:0042475 9.85 BMP4 PITX2 SHH
13 embryonic limb morphogenesis GO:0030326 9.84 BMP4 SHH SHOX2
14 positive regulation of cell differentiation GO:0045597 9.83 BMP4 FGF8 SHH
15 cell fate commitment GO:0045165 9.81 BMP4 FGF8 PAX6 SHH
16 metanephros development GO:0001656 9.79 BMP4 FGF8 SHH
17 neuron fate commitment GO:0048663 9.79 BMP4 PAX6 SHH
18 branching involved in ureteric bud morphogenesis GO:0001658 9.78 BMP4 FGF8 PAX2 SHH
19 branching involved in blood vessel morphogenesis GO:0001569 9.77 FGF8 PITX2 SHH
20 dopaminergic neuron differentiation GO:0071542 9.76 FGF8 PITX3 SHH
21 cardiac muscle cell differentiation GO:0055007 9.75 BMP4 PITX2
22 branching morphogenesis of an epithelial tube GO:0048754 9.75 BMP4 SHH
23 telencephalon development GO:0021537 9.75 BMP4 FGF8
24 positive regulation of smoothened signaling pathway GO:0045880 9.74 SHH SHOX2
25 positive regulation of mesenchymal cell proliferation GO:0002053 9.74 SHH SHOX2
26 thyroid gland development GO:0030878 9.74 FGF8 SHH
27 outflow tract septum morphogenesis GO:0003148 9.74 BMP4 FGF8
28 female gonad development GO:0008585 9.74 FOXL2 PITX2
29 renal system development GO:0072001 9.74 BMP4 SHH
30 vasculature development GO:0001944 9.74 BMP4 SHH
31 lung morphogenesis GO:0060425 9.74 BMP4 FGF8 SHH
32 positive regulation of neuroblast proliferation GO:0002052 9.73 PAX6 SHH
33 signal transduction involved in regulation of gene expression GO:0023019 9.73 FGF8 PAX6
34 male genitalia development GO:0030539 9.73 FGF8 SHH
35 negative regulation of neurogenesis GO:0050768 9.73 PAX6 PITX3
36 cell fate determination GO:0001709 9.73 PAX2 PAX6
37 anatomical structure formation involved in morphogenesis GO:0048646 9.73 BMP4 SHH
38 odontogenesis GO:0042476 9.73 BMP4 FGF8 PITX2 SHH
39 epithelial tube branching involved in lung morphogenesis GO:0060441 9.72 BMP4 SHH
40 dorsal/ventral neural tube patterning GO:0021904 9.72 BMP4 SHH
41 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.72 BMP4 FGF8
42 embryonic digestive tract morphogenesis GO:0048557 9.72 PITX2 SHH SHOX2
43 camera-type eye development GO:0043010 9.72 BMP4 PAX2 PAX6 PITX2 SHH
44 branching involved in salivary gland morphogenesis GO:0060445 9.71 FGF8 SHH
45 organ induction GO:0001759 9.71 BMP4 FGF8
46 embryonic skeletal joint morphogenesis GO:0060272 9.71 BMP4 SHOX2
47 forebrain morphogenesis GO:0048853 9.71 FGF8 HESX1
48 embryonic morphogenesis GO:0048598 9.71 BMP4 SHH SHOX2
49 iris morphogenesis GO:0061072 9.7 PAX6 PITX2
50 mesonephros development GO:0001823 9.7 BMP4 FGF8 PAX2

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

id Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.9 CRX ESX1 FOXL2 HESX1 PAX2 PAX6
2 transcription factor activity, sequence-specific DNA binding GO:0003700 9.87 CRX FOXL2 PAX6 PITX1 PITX2 PITX3
3 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0001077 9.73 CRX FOXL2 PAX6 PITX1 PITX2 PITX3
4 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000978 9.5 CRX FOXL2 HESX1 PAX6 PITX1 PITX2
5 chemoattractant activity GO:0042056 9.37 BMP4 FGF8
6 sequence-specific DNA binding GO:0043565 9.32 CRX ESX1 FOXL2 HESX1 PAX6 PITX1

Sources for Axenfeld-Rieger Syndrome, Type 1

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11 DGIdb
16 ExPASy
18 FMA
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