RGS
MCID: AXN003
MIFTS: 39

Axenfeld-Rieger Syndrome Type 1 (RGS) malady

Eye, Endocrine, Fetal categories

Summaries for Axenfeld-Rieger Syndrome Type 1

Sources:
43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 axenfeld-rieger syndrome and aniridia, and has symptoms including frontal bossing/prominent forehead, hypertelorism and failure to thrive/difficulties for feeding in infancy/growth delay. 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 skin, brain and skeletal muscle, and related mouse phenotypes are limbs/digits/tail and pigmentation.

Description from OMIM:47 180500,601499,602482

Aliases & Classifications for Axenfeld-Rieger Syndrome Type 1

Sources:
49Orphanet, 61UMLS, 43NIH Rare Diseases, 20GeneTests, 22GTR, 45Novoseek, 47OMIM, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
axenfeld syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

axenfeld-rieger syndrome type 1 43 20 22
axenfeld syndrome 49 61
rieger syndrome 49 61
rieg 43 45
axenfeld-rieger syndrome, type 1 47
axenfeld-rieger syndrome 49
rieger syndrome type 1 43
rieg1 43
rgs 43


External Ids:

MESH via Orphanet36 C535679
ICD10 via Orphanet26 Q13.8
SNOMED-CT via Orphanet58 204154009, 267585008, 417604002 47507006, more
UMLS via Orphanet62 C0265341

Related Diseases for Axenfeld-Rieger Syndrome Type 1

Sources:
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

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

180500,601499,602482

Clinical synopsis from OMIM:

180500

Symptoms:

49 (show all 22)
  • frontal bossing/prominent forehead
  • 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
  • hypospadias/epispadias/bent penis
  • anodontia/oligodontia/hypodontia
  • 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

Drugs & Therapeutics for Axenfeld-Rieger Syndrome Type 1

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Sources:
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

Sources:
33MalaCards
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MalaCards organs/tissues related to Axenfeld-Rieger Syndrome Type 1:

33
Skin, Brain, Skeletal muscle

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

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Axenfeld-Rieger Syndrome Type 1:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.1PITX2, FOXC1
2MP:00011868.8PITX2, FOXC1

Publications for Axenfeld-Rieger Syndrome Type 1

Genetic Variations for Axenfeld-Rieger Syndrome Type 1

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Axenfeld-Rieger Syndrome Type 1:

63
id Symbol AA change Variation 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

Sources:
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

Sources:
38NCBI 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

GO Terms for genes affiliated with Axenfeld-Rieger Syndrome Type 1

Sources:
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:0430109.2FOXC1, PITX2
2odontogenesis of dentin-containing toothGO:0424759.1FOXC1, PITX2
3positive regulation of transcription from RNA polymerase II promoterGO:0459449.1PITX2, FOXC1
4in utero embryonic developmentGO:0017019.0PITX2, FOXC1
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

  • Antibodies
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  • Antibodies

Sources for Axenfeld-Rieger Syndrome Type 1

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet