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

Characteristics:

HPO:

61
axenfeld-rieger syndrome, type 1:
Onset and clinical course: variable expressivity
Inheritance: autosomal dominant inheritance


Classifications:



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OMIM49 180500
MeSH36 D005124
UMLS65 C3714873

Summaries for Axenfeld-Rieger Syndrome, Type 1

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NIH Rare Diseases:45 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 axenfeld-rieger syndrome, type 3 and rieger syndrome, type 2, and has symptoms including polycoria, abnormally prominent line of schwalbe and hypoplasia of the iris. An important gene associated with Axenfeld-Rieger Syndrome, Type 1 is PITX2 (Paired Like Homeodomain 2). Affiliated tissues include eye, skin and heart, and related mouse phenotype pigmentation.

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.

OMIM:49 Axenfeld-Rieger syndrome is an autosomal dominant disorder of morphogenesis that results in abnormal development of the... (180500) more...

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
1axenfeld-rieger syndrome, type 310.8
2rieger syndrome, type 210.8
3trichosporonosis10.4
4leprosy10.3
5lipoma10.3
6spindle cell lipoma10.3
7malignant hyperthermia10.3
8hypogonadotropic hypogonadism 24 without anosmia9.7PITX2, PITX3
9iridogoniodysgenesis, type 29.6PITX2, PITX3
10peters anomaly9.5PITX2, 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 polycoria HP:0011500
2 abnormally prominent line of schwalbe HP:0007873
3 hypoplasia of the iris HP:0007676
4 abnormality of the abdominal wall HP:0004298
5 anal stenosis HP:0002025
6 anal atresia HP:0002023
7 growth hormone deficiency HP:0000824
8 hypodontia HP:0000668
9 posterior embryotoxon HP:0000627
10 rieger anomaly HP:0000558
11 aniridia HP:0000526
12 glaucoma HP:0000501
13 strabismus HP:0000486
14 megalocornea HP:0000485
15 microcornea HP:0000482
16 wide nasal bridge HP:0000431
17 prominent supraorbital ridges HP:0000336
18 hypoplasia of the maxilla HP:0000327
19 short philtrum HP:0000322
20 thin upper lip vermilion HP:0000219
21 hypospadias HP:0000047

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

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, Heart, 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
1positive regulation of transcription, DNA-templatedGO:00458939.4PITX2, PITX3
2positive regulation of transcription from RNA polymerase II promoterGO:00459449.1PITX2, PITX3
3transcription from RNA polymerase II promoterGO:00063669.0PITX2, 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