RGS
MCID: AXN003
MIFTS: 49

Axenfeld-Rieger Syndrome Type 1 (RGS) malady

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

Summaries for Axenfeld-Rieger Syndrome Type 1

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44NIH Rare Diseases, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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: Axenfeld-Rieger Syndrome Type 1, also known as axenfeld syndrome, is related to glaucoma and axenfeld-rieger syndrome, and has symptoms including hypothalamic-hypophyseal axis anomalies/hypothalamus/pituitary anomalies, everted lower lip and loose skin/skin relaxation/excess skin/creases. 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.

Description from OMIM:48 180500,601499,602482

Aliases & Classifications for Axenfeld-Rieger Syndrome Type 1

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50Orphanet, 63UMLS, 44NIH Rare Diseases, 21GeneTests, 23GTR, 46Novoseek, 48OMIM, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
axenfeld syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

axenfeld-rieger syndrome type 1 44 21 23
axenfeld syndrome 50 63
rieger syndrome 50 63
rieg 44 46
axenfeld-rieger syndrome, type 1 48
axenfeld-rieger syndrome 50
rieger syndrome type 1 44
rieg1 44
rgs 44


External Ids:

MESH via Orphanet37 C535679
ICD10 via Orphanet27 Q13.8
SNOMED-CT via Orphanet60 204154009, 267585008, 417604002 47507006, more
UMLS via Orphanet64 C0265341

Related Diseases for Axenfeld-Rieger Syndrome Type 1

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18GeneCards, 19GeneDecks
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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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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

180500

Clinical features from OMIM:

180500,601499,602482

Symptoms:

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

Drugs & Therapeutics for Axenfeld-Rieger Syndrome Type 1

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Axenfeld-Rieger Syndrome Type 1

Drug clinical trials:

Search ClinicalTrials for Axenfeld-Rieger Syndrome Type 1

Search NIH Clinical Center for Axenfeld-Rieger Syndrome Type 1

Search CenterWatch for Axenfeld-Rieger Syndrome Type 1

Genetic Tests for Axenfeld-Rieger Syndrome Type 1

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21GeneTests, 23GTR
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Genetic tests related to Axenfeld-Rieger Syndrome Type 1:

id Genetic test Affiliating Genes
1 Axenfeld-Rieger Syndrome, Type 121 PITX2
2 Axenfeld-Rieger Syndrome Type 123

Anatomical Context for Axenfeld-Rieger Syndrome Type 1

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34MalaCards
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MalaCards organs/tissues related to Axenfeld-Rieger Syndrome Type 1:

34
Eye, Skin, Bone, Brain, Hypothalamus, Pituitary

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

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38MGI
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MGI Mouse Phenotypes related to Axenfeld-Rieger Syndrome Type 1:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.3PITX2, FOXC1
2MP:00053719.3PITX2, FOXC1
3MP:00053829.2FOXC1, PITX2
4MP:00053709.2PITX2, FOXC1
5MP:00053889.1PITX2, FOXC1
6MP:00053699.1PITX2, FOXC1
7MP:00053819.0PITX2, FOXC1
8MP:00053918.8PITX2, FOXC1

Publications for Axenfeld-Rieger Syndrome Type 1

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Variations for Axenfeld-Rieger Syndrome Type 1

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Axenfeld-Rieger Syndrome Type 1:

65
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:

1
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
10FOXC1NM_001453.2(FOXC1): c.335T> C (p.Phe112Ser)single nucleotide variantPathogenicrs104893951GRCh37Chr 6, 1611015: 1611015

Expression for genes affiliated with Axenfeld-Rieger Syndrome Type 1

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Axenfeld-Rieger Syndrome Type 1

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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51PathCards, 39NCBI BioSystems Database
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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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17Gene Ontology
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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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Sources for Axenfeld-Rieger Syndrome Type 1

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet