MCID: AXN009
MIFTS: 30

Axenfeld-Rieger Syndrome, Type 1 malady

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

Summaries for Axenfeld-Rieger Syndrome, Type 1

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OMIM:45 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 axenfeld-rieger syndrome, type 3 and rieger syndrome, type 2, 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, bone and brain.

NIH Rare Diseases:41 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

Aliases & Classifications for Axenfeld-Rieger Syndrome, Type 1

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Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 43Novoseek, 22GTR, 60UMLS
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Axenfeld-Rieger Syndrome, Type 1, Aliases & Descriptions:

Name: Axenfeld-Rieger Syndrome, Type 1 45 10
Axenfeld-Rieger Syndrome Type 1 41 20 22
Rieg 41 43
Axenfeld-Rieger Syndrome 60
 
Rieger Syndrome Type 1 41
Rieg1 41
Rgs 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Eye diseases


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OMIM45 180500

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 19)
idRelated DiseaseScoreTop Affiliating Genes
1axenfeld-rieger syndrome, type 310.4
2rieger syndrome, type 210.4
3retinitis10.4
4neuronitis10.3
5neutropenia10.2
6peters anomaly10.1
7breast cancer10.0
8cystic fibrosis10.0
9lung cancer10.0
10migraine10.0
11drug addiction10.0
12leukemia10.0
13severe congenital neutropenia10.0
14familial hemiplegic migraine10.0
15sick sinus syndrome10.0
16cryptococcosis10.0
17hemiplegic migraine10.0
18persistent genital arousal disorder10.0
19endotheliitis10.0

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:

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Clinical features from OMIM:

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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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Drug clinical trials:

Search ClinicalTrials for Axenfeld-Rieger Syndrome, Type 1

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 120 PITX2
2 Axenfeld-Rieger Syndrome Type 122

Anatomical Context for Axenfeld-Rieger Syndrome, Type 1

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

31
Eye, Bone, Brain, Skin

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

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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:

62
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:

6
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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Compounds 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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Products for genes affiliated with Axenfeld-Rieger Syndrome, Type 1

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Sources for Axenfeld-Rieger Syndrome, Type 1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet