RGS
MCID: AXN003
MIFTS: 49

Axenfeld-Rieger Syndrome Type 1 (RGS) malady

Eye diseases, Endocrine diseases, Fetal diseases categories

Summaries for Axenfeld-Rieger Syndrome Type 1

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42NIH Rare Diseases, 46OMIM, 32MalaCards
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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: Axenfeld-Rieger Syndrome Type 1, also known as axenfeld syndrome, is related to glaucoma and axenfeld-rieger syndrome, and has symptoms including complete/partial microdontia, anodontia/oligodontia/hypodontia 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 limbs/digits/tail and pigmentation.

Description from OMIM:46 180500,601499,602482

Aliases & Classifications for Axenfeld-Rieger Syndrome Type 1

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48Orphanet, 60UMLS, 42NIH Rare Diseases, 20GeneTests, 22GTR, 44Novoseek, 46OMIM, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

axenfeld-rieger syndrome type 1 42 20 22
axenfeld syndrome 48 60
rieger syndrome 48 60
rieg 42 44
axenfeld-rieger syndrome, type 1 46
axenfeld-rieger syndrome 48
rieger syndrome type 1 42
rieg1 42
rgs 42


External Ids:

MESH via Orphanet35 C535679
ICD10 via Orphanet26 Q13.8
SNOMED-CT via Orphanet57 204154009, 267585008, 417604002 47507006, more
UMLS via Orphanet61 C0265341

Related Diseases for Axenfeld-Rieger Syndrome Type 1

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17GeneCards, 18GeneDecks
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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

Clinical Features for Axenfeld-Rieger Syndrome Type 1

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46OMIM, 48Orphanet
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Clinical features from OMIM:

180500,601499,602482

Clinical synopsis from OMIM:

180500

Symptoms:

48 (show all 22)
  • 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
  • depressed nasal bridge
  • broad nose/nasal bridge
  • 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
  • anterior chamber anomaly

Drugs & Therapeutics for Axenfeld-Rieger Syndrome Type 1

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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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20GeneTests, 22GTR
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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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32MalaCards
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MalaCards organs/tissues related to Axenfeld-Rieger Syndrome Type 1:

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

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

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36MGI
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MGI Mouse Phenotypes related to Axenfeld-Rieger Syndrome Type 1:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.1PITX2, FOXC1
2MP:00011868.8PITX2, FOXC1

Publications for Axenfeld-Rieger Syndrome Type 1

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Genetic Variations for Axenfeld-Rieger Syndrome Type 1

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62UniProtKB/Swiss-Prot
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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

Expression for genes affiliated with Axenfeld-Rieger Syndrome Type 1

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1BioGPS, 15Gene 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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37NCBI 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
19.1PITX2, FOXC1

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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16Gene 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:0056679.1PITX2, FOXC1

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:0424759.1PITX2, FOXC1
3positive regulation of transcription from RNA polymerase II promoterGO:0459449.1PITX2, FOXC1
4in utero embryonic developmentGO:0017019.0FOXC1, PITX2
5negative regulation of transcription from RNA polymerase II promoterGO:0001228.8PITX2, FOXC1

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

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

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
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet