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 50 23 12 66
Rieg1 46 23 68
Rieg 46 68 48
Axenfeld-Rieger Syndrome 1 68 25
Rieger Syndrome Type 1 46 68
 
Rgs 46 68
Iridogoniodysgenesis with Somatic Anomalies 68
Axenfeld-Rieger Syndrome Type 1 46
Rieger Syndrome, Type 1 23

Characteristics:

HPO:

62
axenfeld-rieger syndrome, type 1:
Inheritance: autosomal dominant inheritance
Onset and clinical course: variable expressivity


Classifications:



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OMIM50 180500
MeSH37 D005124

Summaries for Axenfeld-Rieger Syndrome, Type 1

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NIH Rare Diseases:46 Axenfeld-rieger syndrome is a group of eye disorders that affects the development of the eye. common eye symptoms include cornea defects, which is the clear covering on the front of the eye, and iris defects, which is the colored part of the eye. people with this syndrome may have an off-center pupil (corectopia) or extra holes in the eyes that can look like multiple pupils (polycoria). about 50% of people with this syndrome develop glaucoma, which is a serious condition that increases pressure inside of the eye. this may cause vision loss or blindness. click here to view a diagram of the eye.  even though axenfeld-rieger syndrome is primarily an eye disorder, this syndrome is also associated with symptoms that affect other parts of the body. most people with this syndrome have distinctive facial features and many have issues with their teeth, including unusually small teeth (microdontia) or fewer than normal teeth (oligodontia). some people have extra folds of skin around their belly button, heart defects, or other more rare birth defects. there are three types of axenfeld-rieger syndrome and each has a different genetic cause. axenfeld-rieger syndrome type 1 is caused by spelling mistakes (mutations) in the pitx2 gene. axenfeld-rieger syndrome type 3 is caused by mutations in the foxc1 gene. the gene that causes axenfeld-rieger syndrome type 2 is not known, but it is located on chromosome 13. axenfeld-rieger syndrome has an autosomal dominant pattern of inheritance. last updated: 1/3/2016

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.

OMIM:50 Axenfeld-Rieger syndrome is an autosomal dominant disorder of morphogenesis that results in abnormal development of the... (180500) more...

UniProtKB/Swiss-Prot:68 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 anomaly28.8PITX2, PITX3
2axenfeld-rieger syndrome, type 310.4
3rieger syndrome, type 210.4
4hypogonadotropic hypogonadism 24 without anosmia9.5PITX2, PITX3
5iridogoniodysgenesis, type 29.4PITX2, PITX3

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



Diseases related to axenfeld-rieger syndrome, type 1

Symptoms for Axenfeld-Rieger Syndrome, Type 1

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Symptoms by clinical synopsis from OMIM:

180500

Clinical features from OMIM:

180500

HPO human phenotypes related to Axenfeld-Rieger Syndrome, Type 1:

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

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 125
2 Axenfeld-Rieger Syndrome, Type 123 PITX2

Anatomical Context for Axenfeld-Rieger Syndrome, Type 1

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

34
Eye, Skin, Brain, Heart

Animal Models for Axenfeld-Rieger Syndrome, Type 1 or affiliated genes

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

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.1PITX2, PITX3

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:

68
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)single nucleotide variantPathogenicrs387906810GRCh37Chr 4, 111539835: 111539835
2PITX2NM_153427.2(PITX2): c.161T> A (p.Leu54Gln)single nucleotide variantPathogenicrs104893857GRCh37Chr 4, 111542411: 111542411
3PITX2PITX2, IVS3DS, G-C, +5single nucleotide variantPathogenic
4PITX2NM_153427.2(PITX2): c.202A> C (p.Thr68Pro)single nucleotide variantPathogenicrs104893858GRCh37Chr 4, 111542370: 111542370
5PITX2PITX2, IVS3AS, A-G, -11single nucleotide variantPathogenic
6PITX2NM_153427.2(PITX2): c.272G> C (p.Arg91Pro)single nucleotide variantPathogenicrs104893859GRCh37Chr 4, 111539825: 111539825
7PITX2NM_153427.2(PITX2): c.399G> A (p.Trp133Ter)single nucleotide variantPathogenicrs104893860GRCh37Chr 4, 111539698: 111539698
8PITX2NM_153427.2(PITX2): c.247G> C (p.Val83Leu)single nucleotide variantPathogenicrs121909249GRCh37Chr 4, 111542325: 111542325
9PITX2PITX2, 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:

idNameGO IDScoreTop Affiliating Genes
1animal organ morphogenesisGO:00098879.3PITX2, PITX3
2transcription from RNA polymerase II promoterGO:00063669.1PITX2, PITX3
3positive regulation of transcription, DNA-templatedGO:00458938.8PITX2, 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:00009789.1PITX2, PITX3
2transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010778.8PITX2, PITX3

Sources for Axenfeld-Rieger Syndrome, Type 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet