MCID: AXN009
MIFTS: 39

Axenfeld-Rieger Syndrome, Type 1 malady

Genetic diseases, Rare diseases, Eye diseases, Fetal diseases categories

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 49 11
Axenfeld-Rieger Syndrome Type 1 45 22 24
Rieger Syndrome Type 1 45 22 67
Rieg1 45 22 67
Rieg 45 47 67
 
Rgs 45 67
Iridogoniodysgenesis with Somatic Anomalies 67
Axenfeld-Rieger Syndrome 1 67
Axenfeld-Rieger Syndrome 65


Classifications:



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OMIM49 180500
MeSH36 D005124

Summaries for Axenfeld-Rieger Syndrome, Type 1

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OMIM:49 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 axenfeld-rieger syndrome type 1, is related to peters anomaly and axenfeld-rieger syndrome, type 3, and has symptoms including autosomal dominant inheritance, hypospadias and thin upper lip vermilion. An important gene associated with Axenfeld-Rieger Syndrome, Type 1 is PITX2 (Paired-Like Homeodomain 2). Affiliated tissues include eye, skin and bone, and related mouse phenotype pigmentation.

NIH Rare Diseases:45 Axenfeld-rieger syndrome refers to a spectrum of developmental eye disorders. common eye symptoms include cornea defects, iris defects, and glaucoma. about 50% of affected individuals become blind from glaucoma. other associated developmental defects commonly involve the teeth and facial bones. . click here to view a diagram of the eye. there are three types of axenfeld-rieger syndrome, which are distinguished by their genetic cause. axenfeld-rieger syndrome type 1 is caused by mutations in the pitx2 gene and axenfeld-rieger syndrome type 3 is caused by mutations in the foxc1 gene. the gene that causes axenfeld-rieger syndrome type 2 has not yet been identified, but it is located on chromosome 13. axenfeld-rieger syndrome has an autosomal dominant pattern of inheritance. last updated: 4/11/2011

UniProtKB/Swiss-Prot:67 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:

(show all 22)
idRelated DiseaseScoreTop Affiliating Genes
1peters anomaly29.7PITX2, PITX3
2axenfeld-rieger syndrome, type 310.4
3rieger syndrome, type 210.4
4retinitis10.4
5neuronitis10.4
6neutropenia10.3
7ovarian cancer10.2
8stroke, ischemic10.0
9lung cancer10.0
10breast cancer10.0
11cystic fibrosis10.0
12drug addiction10.0
13leukemia10.0
14severe congenital neutropenia10.0
15cryptococcosis10.0
16sick sinus syndrome10.0
17familial hemiplegic migraine10.0
18hemiplegic migraine10.0
19persistent genital arousal disorder10.0
20endotheliitis10.0
21aniridia9.8PITX2, PITX3
22axenfeld-rieger syndrome, type 19.8PITX2, PITX3

Graphical network of the top 20 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 23)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 hypospadias HP:0000047
3 thin upper lip vermilion HP:0000219
4 short philtrum HP:0000322
5 hypoplasia of the maxilla HP:0000327
6 prominent supraorbital ridges HP:0000336
7 wide nasal bridge HP:0000431
8 microcornea HP:0000482
9 megalocornea HP:0000485
10 strabismus HP:0000486
11 glaucoma HP:0000501
12 aniridia HP:0000526
13 rieger anomaly HP:0000558
14 posterior embryotoxon HP:0000627
15 hypodontia HP:0000668
16 growth hormone deficiency HP:0000824
17 anal atresia HP:0002023
18 anal stenosis HP:0002025
19 variable expressivity HP:0003828
20 abnormality of the abdominal wall HP:0004298
21 hypoplasia of the iris HP:0007676
22 abnormally prominent line of schwalbe HP:0007873
23 polycoria HP:0011500

Drugs & Therapeutics for Axenfeld-Rieger Syndrome, Type 1

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Interventional clinical trials:

Search ClinicalTrials, 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 122 PITX2
2 Axenfeld-Rieger Syndrome Type 124

Anatomical Context for Axenfeld-Rieger Syndrome, Type 1

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

33
Eye, Skin, Bone, Brain

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:

38
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:

67
id Symbol AA change Variation ID SNP ID
1PITX2p.Leu100GlnVAR_003763
2PITX2p.Thr114ProVAR_003764
3PITX2p.Arg137ProVAR_003766
4PITX2p.Val129LeuVAR_035029
5PITX2p.Pro110LeuVAR_058735
6PITX2p.Pro110ArgVAR_058736
7PITX2p.Lys134GluVAR_058737
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
1transcription 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
1transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010779.4PITX2, PITX3
2RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:00009789.2PITX2, PITX3
3sequence-specific DNA bindingGO:00435659.1PITX2, PITX3

Sources for Axenfeld-Rieger Syndrome, Type 1

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet