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

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

Name: Axenfeld-Rieger Syndrome, Type 1 52 24 12 68
Rieg1 11 24 70
Axenfeld-Rieger Syndrome Type 1 11 13
Axenfeld-Rieger Syndrome 1 70 27
Rieger Syndrome Type 1 11 70
 
Rieg 70 50
Iridogoniodysgenesis with Somatic Anomalies 70
Rieger Syndrome, Type 1 24
Rgs 70

Characteristics:

HPO:

64
axenfeld-rieger syndrome, type 1:
Inheritance: autosomal dominant inheritance, heterogeneous
Onset and clinical course: variable expressivity

Classifications:



External Ids:

OMIM52 180500
Disease Ontology11 DOID:0110120
ICD1030 Q13.8
MeSH39 D005124

Summaries for Axenfeld-Rieger Syndrome, Type 1

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OMIM:52 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 hypospadias, thin upper lip vermilion and short philtrum. An important gene associated with Axenfeld-Rieger Syndrome, Type 1 is PITX2 (Paired Like Homeodomain 2), and among its related pathways are Tgif disruption of Shh signaling and Glypican 3 network. Affiliated tissues include eye, skin and brain, and related mouse phenotypes are pigmentation and limbs/digits/tail.

Disease Ontology:11 An Axenfeld-Rieger syndrome that has material basis in heterozygous mutation in the homeobox transcription factor gene PITX2 on chromosome 4q25.

UniProtKB/Swiss-Prot:70 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

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



Diseases related to axenfeld-rieger syndrome, type 1

Symptoms & Phenotypes for Axenfeld-Rieger Syndrome, Type 1

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Symptoms by clinical synopsis from OMIM:

180500

Clinical features from OMIM:

180500

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

 64 (show all 21)
id Description HPO Frequency HPO Source Accession
1 hypospadias64 HP:0000047
2 thin upper lip vermilion64 HP:0000219
3 short philtrum64 HP:0000322
4 hypoplasia of the maxilla64 HP:0000327
5 prominent supraorbital ridges64 HP:0000336
6 wide nasal bridge64 HP:0000431
7 microcornea64 HP:0000482
8 megalocornea64 HP:0000485
9 strabismus64 HP:0000486
10 glaucoma64 HP:0000501
11 aniridia64 HP:0000526
12 rieger anomaly64 HP:0000558
13 posterior embryotoxon64 HP:0000627
14 hypodontia64 HP:0000668
15 growth hormone deficiency64 HP:0000824
16 anal atresia64 HP:0002023
17 anal stenosis64 HP:0002025
18 abnormality of the abdominal wall64 HP:0004298
19 hypoplasia of the iris64 HP:0007676
20 abnormally prominent line of schwalbe64 HP:0007873
21 polycoria64 HP:0011500

MGI Mouse Phenotypes related to Axenfeld-Rieger Syndrome, Type 1 according to GeneCards Suite gene sharing:

41 (show all 17)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.6CRX, PAX2, PAX6, PITX2, PITX3
2MP:00053719.1BMP4, FGF8, PITX1, PITX2, SHH, SHOX2
3MP:00053698.9BMP4, FGF8, PAX6, PITX1, PITX2, SHH
4MP:00053818.6BMP4, FGF8, PAX6, PITX1, PITX2, SHH
5MP:00053888.5BMP4, FGF8, HESX1, PAX6, PITX2, PITX3
6MP:00028738.5BMP4, FGF8, FOXL2, HESX1, PAX6, PITX2
7MP:00053778.4BMP4, FGF8, HESX1, PAX2, PAX6, PITX1
8MP:00053828.4BMP4, FGF8, HESX1, PAX6, PITX1, PITX2
9MP:00053908.3BMP4, FGF8, PAX6, PITX1, PITX2, PITX3
10MP:00053808.2BMP4, FGF8, HESX1, PAX2, PAX6, PITX1
11MP:00053898.1BMP4, FGF8, FOXL2, PAX2, PAX6, PITX2
12MP:00053787.7BMP4, FGF8, FOXL2, HESX1, PAX6, PITX1
13MP:00053857.7BMP4, CRX, FGF8, PAX2, PAX6, PITX1
14MP:00053797.6BMP4, FGF8, FOXL2, HESX1, PAX2, PAX6
15MP:00107687.6BMP4, FGF8, FOXL2, HESX1, PAX2, PAX6
16MP:00036317.4BMP4, CRX, FGF8, HESX1, PAX2, PAX6
17MP:00053916.7BMP4, CRX, FGF8, FOXL2, HESX1, PAX2

Drugs & Therapeutics for Axenfeld-Rieger Syndrome, Type 1

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168

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

Genetic Tests for Axenfeld-Rieger Syndrome, Type 1

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

id Genetic test Affiliating Genes
1 Axenfeld-Rieger Syndrome Type 127
2 Axenfeld-Rieger Syndrome, Type 124 PITX2

Anatomical Context for Axenfeld-Rieger Syndrome, Type 1

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

36
Eye, Skin, Brain

Publications for Axenfeld-Rieger Syndrome, Type 1

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Variations for Axenfeld-Rieger Syndrome, Type 1

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

70
id Symbol AA change Variation ID SNP ID
1PITX2p.Leu100GlnVAR_003763rs104893857
2PITX2p.Thr114ProVAR_003764rs104893858
3PITX2p.Arg137ProVAR_003766rs104893859
4PITX2p.Val129LeuVAR_035029rs121909249
5PITX2p.Pro110LeuVAR_058735
6PITX2p.Pro110ArgVAR_058736
7PITX2p.Lys134GluVAR_058737rs387906810
8PITX2p.Arg136CysVAR_058738
9PITX2p.Leu151ValVAR_058739
10PITX2p.Asn154ThrVAR_058740

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

5 (show all 16)
id Gene Variation Type Significance SNP ID Assembly Location
1PITX2NM_ 153427.2(PITX2): c.262A> G (p.Lys88Glu)SNVPathogenicrs387906810GRCh37Chr 4, 111539835: 111539835
2PITX2NM_ 153427.2(PITX2): c.184_ 205del22 (p.Arg62Alafs)deletionPathogenicrs1057519483GRCh38Chr 4, 110621211: 110621232
3PITX2NM_ 153427.2(PITX2): c.191C> T (p.Pro64Leu)SNVPathogenicrs1057519484GRCh38Chr 4, 110621225: 110621225
4PITX2NM_ 153427.2(PITX2): c.555_ 576del22 (p.Thr186Serfs)deletionPathogenicrs1057519487GRCh37Chr 4, 111539521: 111539542
5PITX2NM_ 153427.2(PITX2): c.625_ 626delTC (p.Ser209Argfs)deletionPathogenicrs1057519488GRCh38Chr 4, 110618315: 110618316
6PITX2NM_ 153427.2(PITX2): c.648T> A (p.Cys216Ter)SNVPathogenicrs1057519489GRCh38Chr 4, 110618293: 110618293
7PITX2NC_ 000004.12: g.(?_ 110618049)_ (110622472_ ?)deldeletionPathogenicGRCh37Chr 4, 111539205: 111543628
8PITX2NC_ 000004.11: g.(111426357_ 111528916)_ (111888401_ 111990971)delcopy number lossPathogenicGRCh37Chr 4, 111426357: 111990971
9PITX2NM_ 153427.2(PITX2): c.161T> A (p.Leu54Gln)SNVPathogenicrs104893857GRCh37Chr 4, 111542411: 111542411
10PITX2PITX2, IVS3DS, G-C, +5SNVPathogenic
11PITX2NM_ 153427.2(PITX2): c.202A> C (p.Thr68Pro)SNVPathogenicrs104893858GRCh37Chr 4, 111542370: 111542370
12PITX2PITX2, IVS3AS, A-G, -11SNVPathogenic
13PITX2NM_ 153427.2(PITX2): c.272G> C (p.Arg91Pro)SNVPathogenicrs104893859GRCh37Chr 4, 111539825: 111539825
14PITX2NM_ 153427.2(PITX2): c.399G> A (p.Trp133Ter)SNVPathogenicrs104893860GRCh37Chr 4, 111539698: 111539698
15PITX2NM_ 153427.2(PITX2): c.247G> C (p.Val83Leu)SNVPathogenicrs121909249GRCh37Chr 4, 111542325: 111542325
16PITX2PITX2, 21-BP DUP, NT713duplicationPathogenic

Expression for genes affiliated with Axenfeld-Rieger Syndrome, Type 1

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

Pathways for genes affiliated with Axenfeld-Rieger Syndrome, Type 1

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GO Terms for genes affiliated with Axenfeld-Rieger Syndrome, Type 1

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

(show top 50)    (show all 74)
idNameGO IDScoreTop Affiliating Genes
1extraocular skeletal muscle developmentGO:000207410.7FOXL2, PITX2
2female gonad developmentGO:000858510.7FOXL2, PITX2
3forebrain morphogenesisGO:004885310.7FGF8, HESX1
4otic vesicle formationGO:003091610.7FGF8, HESX1
5iris morphogenesisGO:006107210.6PAX6, PITX2
6negative regulation of neurogenesisGO:005076810.6PAX6, PITX3
7cardiac muscle cell differentiationGO:005500710.6BMP4, PITX2
8deltoid tuberosity developmentGO:003599310.6BMP4, PITX2
9embryonic skeletal joint morphogenesisGO:006027210.5BMP4, SHOX2
10forebrain dorsal/ventral pattern formationGO:002179810.5FGF8, PAX6
11pallium developmentGO:002154310.5FGF8, PAX6
12anatomical structure morphogenesisGO:000965310.5FGF8, PITX1, PITX2
13signal transduction involved in regulation of gene expressionGO:002301910.4FGF8, PAX6
14cell fate determinationGO:000170910.4PAX2, PAX6
15epithelial to mesenchymal transition involved in endocardial cushion formationGO:000319810.4BMP4, FGF8
16organ inductionGO:000175910.4BMP4, FGF8
17outflow tract septum morphogenesisGO:000314810.4BMP4, FGF8
18positive regulation of mesenchymal cell proliferationGO:000205310.4SHH, SHOX2
19positive regulation of smoothened signaling pathwayGO:004588010.4SHH, SHOX2
20regulation of odontogenesis of dentin-containing toothGO:004248710.4BMP4, FGF8
21telencephalon developmentGO:002153710.4BMP4, FGF8
22mesenchymal to epithelial transition involved in metanephros morphogenesisGO:000333710.4BMP4, PAX2
23metanephric collecting duct developmentGO:007220510.4BMP4, PAX2
24branching involved in salivary gland morphogenesisGO:006044510.3FGF8, SHH
25male genitalia developmentGO:003053910.3FGF8, SHH
26thyroid gland developmentGO:003087810.3FGF8, SHH
27positive regulation of neuroblast proliferationGO:000205210.2PAX6, SHH
28embryonic digestive tract morphogenesisGO:004855710.2PITX2, SHH, SHOX2
29anatomical structure formation involved in morphogenesisGO:004864610.2BMP4, SHH
30branching involved in prostate gland morphogenesisGO:006044210.2BMP4, SHH
31branching morphogenesis of an epithelial tubeGO:004875410.2BMP4, SHH
32dorsal/ventral neural tube patterningGO:002190410.2BMP4, SHH
33epithelial tube branching involved in lung morphogenesisGO:006044110.2BMP4, SHH
34epithelial-mesenchymal cell signalingGO:006068410.2BMP4, SHH
35lymphoid progenitor cell differentiationGO:000232010.2BMP4, SHH
36branching involved in blood vessel morphogenesisGO:000156910.1FGF8, PITX2, SHH
37determination of left/right symmetryGO:000736810.1FGF8, PITX2, SHH
38renal system developmentGO:007200110.1BMP4, SHH
39dopaminergic neuron differentiationGO:007154210.1FGF8, PITX3, SHH
40trachea developmentGO:006043810.1BMP4, SHH
41animal organ morphogenesisGO:000988710.1CRX, PAX6, PITX2, PITX3
42mesonephros developmentGO:000182310.0BMP4, FGF8, PAX2
43odontogenesis of dentin-containing toothGO:00424759.9BMP4, PITX2, SHH
44embryonic limb morphogenesisGO:00303269.9BMP4, SHH, SHOX2
45embryonic morphogenesisGO:00485989.9BMP4, SHH, SHOX2
46skeletal system developmentGO:00015019.9BMP4, PITX1, SHOX, SHOX2
47kidney developmentGO:00018229.8BMP4, FGF8, SHH
48lung morphogenesisGO:00604259.8BMP4, FGF8, SHH
49metanephros developmentGO:00016569.8BMP4, FGF8, SHH
50positive regulation of cell differentiationGO:00455979.8BMP4, FGF8, SHH

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

idNameGO IDScoreTop Affiliating Genes
1chemoattractant activityGO:004205610.4BMP4, FGF8
2RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:00009789.1CRX, FOXL2, HESX1, PAX6, PITX1, PITX2
3transcription factor activity, sequence-specific DNA bindingGO:00037008.9CRX, FOXL2, PAX6, PITX1, PITX2, PITX3
4transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010778.6CRX, FOXL2, PAX6, PITX1, PITX2, PITX3
5sequence-specific DNA bindingGO:00435657.6CRX, ESX1, FOXL2, HESX1, PAX6, PITX1
6DNA bindingGO:00036777.3CRX, ESX1, FOXL2, HESX1, PAX2, PAX6

Sources for Axenfeld-Rieger Syndrome, Type 1

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2CDC
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27GTR
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30ICD10
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53OMIM via Orphanet
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63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
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69UMLS via Orphanet