MCID: AXN009
MIFTS: 34

Axenfeld-Rieger Syndrome, Type 1 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 1 70 27
Rieger Syndrome Type 1 11 70
Rieg 70 50
 
Iridogoniodysgenesis with Somatic Anomalies 70
Axenfeld-Rieger Syndrome Type 1 11
Rieger Syndrome, Type 1 24
Rgs 70

Characteristics:

HPO:

64
axenfeld-rieger syndrome, type 1:
Inheritance: autosomal dominant inheritance
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 peters anomaly and axenfeld-rieger syndrome, type 3, 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). Affiliated tissues include eye, skin and brain, and related mouse phenotype pigmentation.

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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Diseases in the Axenfeld-Rieger Syndrome, Type 3 family:

axenfeld-rieger syndrome, type 1

Diseases related to Axenfeld-Rieger Syndrome, Type 1 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1peters anomaly28.7PITX2, PITX3
2axenfeld-rieger syndrome, type 311.2
3persistent genital arousal disorder10.9
4rieger syndrome, type 210.9
5hypogonadotropic hypogonadism 24 without anosmia9.5PITX2, PITX3
6iridogoniodysgenesis, type 29.5PITX2, PITX3

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
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.1PITX2, PITX3

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
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.161T> A (p.Leu54Gln)SNVPathogenicrs104893857GRCh37Chr 4, 111542411: 111542411
3PITX2PITX2, IVS3DS, G-C, +5SNVPathogenicChr na, -1: -1
4PITX2NM_153427.2(PITX2): c.202A> C (p.Thr68Pro)SNVPathogenicrs104893858GRCh37Chr 4, 111542370: 111542370
5PITX2PITX2, IVS3AS, A-G, -11SNVPathogenicChr na, -1: -1
6PITX2NM_153427.2(PITX2): c.272G> C (p.Arg91Pro)SNVPathogenicrs104893859GRCh37Chr 4, 111539825: 111539825
7PITX2NM_153427.2(PITX2): c.399G> A (p.Trp133Ter)SNVPathogenicrs104893860GRCh37Chr 4, 111539698: 111539698
8PITX2NM_153427.2(PITX2): c.247G> C (p.Val83Leu)SNVPathogenicrs121909249GRCh37Chr 4, 111542325: 111542325
9PITX2PITX2, 21-BP DUP, NT713duplicationPathogenicChr na, -1: -1

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:

idNameGO IDScoreTop Affiliating Genes
1animal organ morphogenesisGO:00098879.8PITX2, PITX3
2positive regulation of transcription, DNA-templatedGO:00458939.8PITX2, PITX3
3transcription from RNA polymerase II promoterGO:00063669.1PITX2, PITX3

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

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:00009789.7PITX2, PITX3
2transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010779.1PITX2, PITX3

Sources for Axenfeld-Rieger Syndrome, Type 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet