RGS
MCID: AXN003
MIFTS: 49

Axenfeld-Rieger Syndrome Type 1 (RGS) malady

Genetic diseases, Rare diseases, Eye diseases, Endocrine diseases, Fetal diseases categories
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Summaries for Axenfeld-Rieger Syndrome Type 1

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NIH Rare Diseases:42 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

MalaCards based summary: Axenfeld-Rieger Syndrome Type 1, also known as axenfeld-rieger syndrome, is related to axenfeld-rieger syndrome and aniridia, and has symptoms including anterior chamber anomaly, aniridia/iris hypoplasia and embryotoxon. An important gene associated with Axenfeld-Rieger Syndrome Type 1 is PITX2 (paired-like homeodomain 2), and among its related pathways is Heart Development. Affiliated tissues include eye, skin and bone, and related mouse phenotypes are pigmentation and limbs/digits/tail.

Descriptions from OMIM:46 180500,601499,602482

Aliases & Classifications for Axenfeld-Rieger Syndrome Type 1

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Sources:
48Orphanet, 62UMLS, 42NIH Rare Diseases, 20GeneTests, 22GTR, 44Novoseek, 46OMIM, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Axenfeld-Rieger Syndrome Type 1, Aliases & Descriptions:

Name: Axenfeld-Rieger Syndrome Type 1 42 20 22
Axenfeld-Rieger Syndrome 48 62
Rieger Syndrome Type 1 42 62
Rieger Syndrome 48 62
Rieg 42 44
 
Axenfeld-Rieger Syndrome, Type 1 46
Axenfeld's Syndrome 62
Axenfeld Syndrome 48
Rieg1 42
Rgs 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
axenfeld-rieger syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy


External Ids:

MESH via Orphanet35 C535679
ICD10 via Orphanet26 Q13.8
UMLS via Orphanet63 C0265341

Related Diseases for Axenfeld-Rieger Syndrome Type 1

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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:

180500,601499,602482

Symptoms:

48 (show all 22)
  • anterior chamber anomaly
  • aniridia/iris hypoplasia
  • embryotoxon
  • autosomal dominant inheritance
  • mid-facial hypoplasia/short/small midface
  • glaucoma
  • everted lower lip
  • hearing loss/hypoacusia/deafness
  • congenital cardiac anomaly/malformation/cardiopathy
  • frontal bossing/prominent forehead
  • hypertelorism
  • hypoplastic maxillary bones/zygomatic bones/maxillary hypoplasia
  • telecanthus/canthal dystopy
  • broad nose/nasal bridge
  • depressed nasal bridge
  • complete/partial microdontia
  • anodontia/oligodontia/hypodontia
  • loose skin/skin relaxation/excess skin/creases
  • imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula
  • hypospadias/epispadias/bent penis
  • hypothalamic-hypophyseal axis anomalies/hypothalamus/pituitary anomalies
  • failure to thrive/difficulties for feeding in infancy/growth delay

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

(show all 41)
id Description Frequency HPO Source Accession
1 abnormality of the anterior chamber hallmark (90%) HP:0000593
2 posterior embryotoxon hallmark (90%) HP:0000627
3 aplasia/hypoplasia of the iris hallmark (90%) HP:0008053
4 everted lower lip vermilion typical (50%) HP:0000232
5 malar flattening typical (50%) HP:0000272
6 hearing impairment typical (50%) HP:0000365
7 glaucoma typical (50%) HP:0000501
8 malformation of the heart and great vessels typical (50%) HP:0002564
9 hypertelorism occasional (7.5%) HP:0000316
10 telecanthus occasional (7.5%) HP:0000506
11 microdontia occasional (7.5%) HP:0000691
12 abnormality of the hypothalamus-pituitary axis occasional (7.5%) HP:0000864
13 cutis laxa occasional (7.5%) HP:0000973
14 frontal bossing occasional (7.5%) HP:0002007
15 depressed nasal bridge occasional (7.5%) HP:0005280
16 reduced number of teeth occasional (7.5%) HP:0009804
17 urogenital fistula occasional (7.5%) HP:0100589
18 displacement of the external urethral meatus occasional (7.5%) HP:0100627
19 autosomal dominant inheritance HP:0000006
20 hypospadias HP:0000047
21 thin upper lip vermilion HP:0000219
22 short philtrum HP:0000322
23 hypoplasia of the maxilla HP:0000327
24 prominent supraorbital ridges HP:0000336
25 wide nasal bridge HP:0000431
26 microcornea HP:0000482
27 megalocornea HP:0000485
28 strabismus HP:0000486
29 glaucoma HP:0000501
30 aniridia HP:0000526
31 rieger anomaly HP:0000558
32 posterior embryotoxon HP:0000627
33 hypodontia HP:0000668
34 growth hormone deficiency HP:0000824
35 anal atresia HP:0002023
36 anal stenosis HP:0002025
37 variable expressivity HP:0003828
38 abnormality of the abdominal wall HP:0004298
39 hypoplasia of the iris HP:0007676
40 abnormally prominent line of schwalbe HP:0007873
41 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:

32
Eye, Skin, Bone, Brain, Hypothalamus, Pituitary

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:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.3FOXC1, PITX2
2MP:00053719.3FOXC1, PITX2
3MP:00053829.2FOXC1, PITX2
4MP:00053709.2FOXC1, PITX2
5MP:00053889.1PITX2, FOXC1
6MP:00053699.1FOXC1, PITX2
7MP:00053819.0FOXC1, PITX2
8MP:00053918.8FOXC1, PITX2

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:

64
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 (show all 16)
id Gene Name 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
10FOXC1FOXC1, 11-BP DELdeletionPathogenic
11FOXC1NM_001453.2(FOXC1): c.392C> T (p.Ser131Leu)single nucleotide variantPathogenicrs104893957GRCh37Chr 6, 1611072: 1611072
12FOXC1NM_001453.2(FOXC1): c.335T> C (p.Phe112Ser)single nucleotide variantPathogenicrs104893951GRCh37Chr 6, 1611015: 1611015
13FOXC1NM_001453.2(FOXC1): c.67C> T (p.Gln23Ter)single nucleotide variantPathogenicrs104893952GRCh37Chr 6, 1610747: 1610747
14FOXC1NM_001453.2(FOXC1): c.245G> C (p.Ser82Thr)single nucleotide variantPathogenicrs104893953GRCh37Chr 6, 1610925: 1610925
15FOXC1NM_001453.2(FOXC1): c.388C> T (p.Leu130Phe)single nucleotide variantPathogenicrs121909338GRCh37Chr 6, 1611068: 1611068
16FOXC1NM_001453.2(FOXC1): c.358C> T (p.Gln120Ter)single nucleotide variantPathogenicrs121909339GRCh37Chr 6, 1611038: 1611038

Expression for genes affiliated with Axenfeld-Rieger Syndrome Type 1

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Expression patterns in normal tissues for genes affiliated with Axenfeld-Rieger Syndrome Type 1

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Pathways for genes affiliated with Axenfeld-Rieger Syndrome Type 1

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Pathways related to Axenfeld-Rieger Syndrome Type 1 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1FOXC1, PITX2

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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Cellular components related to Axenfeld-Rieger Syndrome Type 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcription factor complexGO:0056679.1FOXC1, PITX2

Biological processes related to Axenfeld-Rieger Syndrome Type 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1camera-type eye developmentGO:0430109.2PITX2, FOXC1
2odontogenesis of dentin-containing toothGO:0424759.2FOXC1, PITX2
3in utero embryonic developmentGO:0017019.1FOXC1, PITX2
4regulation of transcription, DNA-templatedGO:0063559.1PITX2, FOXC1
5negative regulation of transcription from RNA polymerase II promoterGO:0001229.0FOXC1, PITX2
6positive regulation of transcription from RNA polymerase II promoterGO:0459448.8FOXC1, PITX2

Molecular functions related to Axenfeld-Rieger Syndrome Type 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA binding transcription factor activityGO:0037009.1FOXC1, PITX2
2chromatin DNA bindingGO:0314909.0FOXC1, PITX2
3transcription factor bindingGO:0081348.8FOXC1, PITX2

Products for genes affiliated with Axenfeld-Rieger Syndrome Type 1

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  • Antibodies
  • Proteins
  • Lysates

Sources for Axenfeld-Rieger Syndrome Type 1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet