MCID: ANR002
MIFTS: 71

Aniridia malady

Eye diseases, Fetal diseases categories

Summaries for Aniridia

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 Aniridia is an eye disorder characterized by a complete or partial absence of the colored part of the eye (the iris). these iris abnormalities may cause the pupils to be abnormal or misshapen. aniridia can cause reduction in the sharpness of vision (visual acuity) and increased sensitivity to light (photophobia).  aniridia may occur either as an isolated eye abnormality or as part of the wilms tumor-aniridia-genital anomalies-retardation (wagr) syndrome. people with aniridia can also have other eye problems including increased pressure in the eye (glaucoma), clouding of the lens of the eye (cataracts), or underdevelopment of the structures that carry information from the eyes to the brain (optic nerves).  individuals with aniridia may also have involuntary eye movements (nystagmus) or underdevelopment of the region at the back of the eye responsible for sharp central vision (foveal hypoplasia). many of these eye problems contribute to progressive vision loss in affected individuals. the severity of symptoms is typically the same in both eyes.  rarely, people with aniridia have behavioral problems, developmental delay, and problems detecting odors.aniridia may be caused by mutations in the pax6 gene and is inherited in an autosomal dominant pattern. last updated: 6/6/2011 references national library of medicine. aniridia. genetics home reference. june 2009; http://ghr.nlm.nih.gov/condition/aniridia. accessed 3/30/2011. hingorani m, moore a. aniridia. genereviews. august 12, 2008; http://www.ncbi.nlm.nih.gov/books/nbk1360/. accessed 3/30/2011. your questions answered by the genetic and rare diseases information center 1 question(s) from the public on aniridia have been answered. see questions and answers. you can also submit a new question.

MalaCards: Aniridia, also known as chromosome 11, deletion 11p, is related to glaucoma and cataract, and has symptoms including aniridia/iris hypoplasia, blepharophimosis/short palpebral fissures and chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis. An important gene associated with Aniridia is PAX6 (paired box 6), and among its related pathways are FSH signaling pathway and Transcriptional Regulatory Network in Embryonic Stem Cell. The compounds proline and ptx1 have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and kidney, and related mouse phenotypes are taste/olfaction and pigmentation.

Genetics Home Reference:21 Aniridia is an eye disorder characterized by a complete or partial absence of the colored part of the eye (the iris). These iris abnormalities may cause the pupils to be abnormal or misshapen. Aniridia can cause reduction in the sharpness of vision (visual acuity) and increased sensitivity to light (photophobia).

Wikipedia:63 Aniridia is the absence of the iris, usually involving both eyes. It can be congenital or caused by a... more...

Description from OMIM:46 106210

GeneReviews summary for aniridia

Aliases & Classifications for Aniridia

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8Disease Ontology, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 39NCIt, 56SNOMED-CT, 27ICD9CM, 34MeSH, 26ICD10 via Orphanet, 35MESH via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 25ICD10
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
isolated aniridia:
Inheritance: Autosomal dominant,Sporadic; Prevalence: 1-9/100000; Age of onset: Childhood
aniridia:
Inheritance: Autosomal dominant,Sporadic; Prevalence: 1-9/100000; Age of onset: Childhood; Age of death: Normal


Aliases & Descriptions:

aniridia 8 9 19 42 20 21 46 10 44 48
chromosome 11, deletion 11p 60
congenital aniridia 21
isolated aniridia 48
aplasia of iris 8
absent iris 21
irideremia 21


External Ids:

Disease Ontology8 DOID:12271
OMIM46 106210
NCIt39 C84563
ICD9CM27 743.45
MeSH34 D015783
SNOMED-CT56 204161008, 69278003
ICD10 via Orphanet26 Q13.1
MESH via Orphanet35 C538293, D015783
SNOMED-CT via Orphanet57 69278003
UMLS via Orphanet61 C0003076, C2931795
ICD1025 Q13.1

Related Diseases for Aniridia

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17GeneCards, 18GeneDecks
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Diseases related to Aniridia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 124)
idRelated DiseaseScoreTop Affiliating Genes
1glaucoma30.8PAX6, FOXC1, BDNF
2cataract30.8PITX3, PAX6
3wagr syndrome30.8BDNF, WT1, PRRG4, FSHB, PAX6
4nephroblastoma30.1PAX6, WT1
5coloboma30.1SIX3, KIR2DS4, OTX2, PAX6
6microphthalmia29.9FOXE3, PITX3, SIX3, OTX2, PAX6, PAX3
7axenfeld-rieger syndrome29.7FOXC1, PAX6
8keratopathy10.4
9chromosome 11p deletion10.3
10cerebellar ataxia10.3
11aniridia renal agenesis psychomotor retardation10.3
12retinitis10.2
13aniridia absent patella10.2
14gonadoblastoma10.2
15retinal detachment10.1
16aniridia, cerebellar ataxia and mental deficiency10.1
17keratitis10.1
18acute lymphoblastic leukemia congenital sporadic aniridia10.1
19aniridia ataxia renal agenesis psychomotor retardation10.1
20aniridia, cerebellar ataxia, and mental retardation10.1
21aniridia-intellectual deficit syndrome10.1
22aniridia - ptosis - intellectual deficit - familial obesity10.1
23iris hypoplasia and glaucoma10.0FOXC1
24limbal stem cell deficiency10.0
25renal wilms' tumor10.0
26beckwith-wiedemann syndrome10.0
27myopia10.0
28retinoblastoma10.0
29albinism10.0
30pheochromocytoma10.0
31aniridia mental retardation syndrome10.0
32aniridia ptosis mental retardation obesity familial10.0
33zazam sheriff phillips syndrome10.0
34wilms tumor-aniridia-genital anomalies-retardation syndrome10.0
35isolated aniridia10.0
36waardenburg's syndrome10.0KIR2DS4, PAX3
37anterior segment mesenchymal dysgenesis10.0PITX3, FOXE3
38peters plus syndrome10.0PAX6, FOXC1
39congenital diaphragmatic hernia10.0PAX3
40glaucoma 3, primary congenital, d10.0PAX6, FOXC1
41wilms tumor10.0PAX6, WT1, BDNF
42neural tube defects10.0PAX3
43klippel-feil syndrome10.0PAX1
44anophthalmia plus syndrome10.0OTX2, PAX6
45blindness10.0FOXC1
46developmental disabilities10.0PAX6, FOXC1, BDNF
47anophthalmia/microphthalmia10.0OTX2, SIX3, PITX3
48mental retardation10.0PAX6, FOXC1, WT1, BDNF
49alveolar rhabdomyosarcoma10.0PAX3, WT1
50medulloblastoma10.0KIR2DS4, OTX2, PAX6, PAX3

Graphical network of the top 20 diseases related to Aniridia:



Diseases related to aniridia

Clinical Features for Aniridia

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46OMIM, 48Orphanet
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Clinical features from OMIM:

106210

Clinical synopsis from OMIM:

106210

Symptoms:

48 (show all 30)
  • aniridia/iris hypoplasia
  • blepharophimosis/short palpebral fissures
  • chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis
  • hypothalamic-hypophyseal axis anomalies/hypothalamus/pituitary anomalies
  • lens dislocation/luxation/subluxation/ectopia lentis
  • anosmia/cacosmia/hypogeusia/hyposmia/olfactory bulb hypoplasia
  • structural anomalies of the genital system
  • microcornea
  • coloboma of the optic nerve
  • keratoconus/keratoglobus
  • iris albinism/ocular albinism
  • xerophthalmia/dry eyes
  • autosomal dominant inheritance
  • glaucoma
  • psychic/behavioural troubles
  • cataract/lens opacification
  • corneal clouding/opacity/vascularisation
  • ptosis
  • nystagmus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • umbilical hernia
  • anomalies of teeth and dentition
  • macular dystrophy/absence/hypoplasia of the macula
  • strabismus/squint
  • corneal ulceration/perforation
  • photophobia
  • visual loss/blindness/amblyopia
  • sensorineural deafness/hearing loss
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • corpus callosum/septum pellucidum total/partial agenesis

Drugs & Therapeutics for Aniridia

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Aniridia

Drug clinical trials:

Search ClinicalTrials for Aniridia

Search NIH Clinical Center for Aniridia

Search CenterWatch for Aniridia

Genetic Tests for Aniridia

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20GeneTests
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Genetic tests related to Aniridia:

id Genetic test Affiliating Genes
1 Aniridia20 PAX6

Anatomical Context for Aniridia

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32MalaCards
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MalaCards organs/tissues related to Aniridia:

32
Eye, Brain, Kidney, Pituitary, Olfactory bulb, Hypothalamus, Endothelial, Bone

Animal Models for Aniridia or affiliated genes

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36MGI
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Publications for Aniridia

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50PubMed
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Articles related to Aniridia:

(show top 50)    (show all 479)
idTitleAuthorsYear
1
Simultaneous correction of aniridia and aphakia. (24075174)
2013
2
Increased corneal epithelial turnover contributes to abnormal homeostasis in the Pax6(+/-) mouse model of aniridia. (23967157)
2013
3
11p13 deletions can be more frequent than the PAX6 gene point mutations in Polish patients with aniridia. (23761016)
2013
4
Artificial iris-intraocular lens implantation for traumatic aniridia and aphakia assisted by silicone oil retention sutures. (23079319)
2012
5
A case of aniridia with unilateral Peters anomaly. (21397818)
2011
6
Aniridia associated with aphakia and secondary glaucoma. (21052919)
2010
7
Traumatic aniridia and self-sealed globe rupture following blunt trauma. (20523360)
2010
8
Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridia. (20806047)
2010
9
Novel presentation of Omenn syndrome in association with aniridia. (19178939)
2009
10
PAX6 aniridia and interhemispheric brain anomalies. (19862335)
2009
11
Mutation analysis of the PAX6 gene in a family with congenital aniridia and cataract]. (19806578)
2009
12
Pax6 3' deletion results in aniridia, autism and mental retardation. (18322702)
2008
13
Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia. (17406642)
2007
14
Outcomes of Boston keratoprosthesis in aniridia: a retrospective multicenter study. (17543875)
2007
15
A deletion 3' to the PAX6 gene in familial aniridia cases. (17679951)
2007
16
A novel PAX6 gene mutation in a Chinese family with aniridia. (15889018)
2005
17
Artificial iris-lens diaphragm in reconstructive surgery for aniridia and aphakia. (16246779)
2005
18
Endoscope-aided cataract surgery in corneal opacity associated with aniridia. (16105626)
2005
19
Employing endoscopic guidance for placement of a black diaphragm aniridia intraocular lens following destructive Acanthamoeba sclerokeratitis. (15031197)
2004
20
Thinning of the anterior capsule associated with congenital aniridia. (12663018)
2003
21
Three novel PAX6 mutations in patients with aniridia. (12782766)
2003
22
De novo chromosome translocation t (2; 11) (p25.1; p13) in a patient with aniridia and genitourinary abnormalities. (12845852)
2003
23
3' deletions cause aniridia by preventing PAX6 gene expression. (11087823)
2000
24
Comparison of protein kinase C subtype expression between normal and aniridic human ocular surfaces: implications for limbal stem cell dysfunction in aniridia. (8925665)
1996
25
An unusual cystic lesion histologically similar to autosomal dominant polycystic kidney disease in a child with aniridia and del 11p13. (8072106)
1994
26
Results of penetrating keratoplasty in aniridia. (8442490)
1993
27
PAX6 mutations in aniridia. (8364574)
1993
28
Dinucleotide repeat polymorphism in the human aniridia (PAX6) gene. (8281171)
1993
29
Small eye (Sey): cloning and characterization of the murine homolog of the human aniridia gene. (1612585)
1992
30
The human PAX6 gene is mutated in two patients with aniridia. (1302030)
1992
31
Rapid isolation of moderate and highly polymorphic DNA fragments mapping close to WT (Wilms' tumour) and AN2 (aniridia) on chromosome 11. (2564837)
1989
32
Long-range restriction map around 11p13 aniridia locus. (2556802)
1989
33
Aniridia, ectopia lentis, abnormal upper incisors and mental retardation--an autosomal recessive syndrome. (3266265)
1988
34
HRAS1-selected chromosome transfer generates markers that colocalize aniridia- and genitourinary dysplasia-associated translocation breakpoints and the Wilms tumor gene within band 11p13. (3037545)
1987
35
An alternative hypothesis for iris maldevelopment (aniridia). (3502629)
1986
36
Molecular analysis of chromosome 11 deletions in aniridia-Wilms tumor syndrome. (3001710)
1985
37
Congenital aniridia: a histopathologic study of the anterior segment in children. (6631651)
1983
38
The association of aniridia and Wilms' tumor: methods of surveillance and diagnosis. (6300626)
1983
39
Wilms's tumour and aniridia: clinical and cytogenetic features. (6289758)
1982
40
Catalase levels in patients with aniridia and/or Wilms' tumor: utility and limitations. (6273073)
1981
41
Aniridia and mental retardation with deletion of the short arm of chromosome 11. (7342404)
1981
42
Autosomal dominant aniridia in association with craniopharyngioma. (7234799)
1981
43
Aniridia associated with microcornea and subluxated lenses. (305786)
1978
44
Dominantly inherited aniridia associated with mental retardation and other eye abnormalities. (4422267)
1974
45
Simultaneous occurrence of congenital aniridia, hamartoma, and Wilms' tumor. (5544158)
1971
46
Remission of nystagmus following fitting contact lenses to an infant with aniridia. (5663371)
1968
47
ANIRIDIA, CEREBELLAR ATAXIA, AND OLIGOPHRENIA IN SIBLINGS. (14246186)
1965
48
ASSOCIATION OF WILMS'S TUMOR WITH ANIRIDIA, HEMIHYPERTROPHY AND OTHER CONGENITAL MALFORMATIONS. (14114111)
1964
49
CAN ANIRIDIA BE INHERITED RECESSIVELY? (14099423)
1963
50
Congenital Aniridia. (16692741)
1926

Genetic Variations for Aniridia

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Aniridia:

62 (show all 28)
id Symbol AA change Variation ID SNP ID
1PAX6p.Asn17SerVAR_003808
2PAX6p.Gly18TrpVAR_003809
3PAX6p.Ile29ValVAR_003811
4PAX6p.Arg44GlnVAR_003812
5PAX6p.Ile87ArgVAR_003813
6PAX6p.Gln178HisVAR_003815
7PAX6p.Arg208TrpVAR_003816
8PAX6p.Ile29SerVAR_008694
9PAX6p.Ala33ProVAR_008695
10PAX6p.Ile42SerVAR_008697
11PAX6p.Ser43ProVAR_008698
12PAX6p.Val53LeuVAR_008699
13PAX6p.Thr63ProVAR_008701
14PAX6p.Ala79GluVAR_008703
15PAX6p.Ser119ArgVAR_008704
16PAX6p.Val126AspVAR_008705
17PAX6p.Arg208GlnVAR_008706
18PAX6p.Ser353AlaVAR_008707
19PAX6p.Gln422ArgVAR_008708
20PAX6p.Pro375GlnVAR_015066rs200015827
21PAX6p.Arg19ProVAR_047860
22PAX6p.Leu46ArgVAR_047861
23PAX6p.Cys52ArgVAR_047862
24PAX6p.Ile56ThrVAR_047863
25PAX6p.Gly73AspVAR_047864
26PAX6p.Ile87LysVAR_047865
27PAX6p.Arg242ThrVAR_047866
28PAX6p.Gly395ArgVAR_067698

Expression for genes affiliated with Aniridia

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Aniridia

Search GEO for disease gene expression data for Aniridia.

Pathways for genes affiliated with Aniridia

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37NCBI BioSystems Database, 51QIAGEN, 12EMD Millipore
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Pathways related to Aniridia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.2FSHB, BDNF
210.1PAX6, SIX3, FOXC1
39.9PAX3, PAX6, OTX2, SIX3

Compounds for genes affiliated with Aniridia

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44Novoseek
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Compounds related to Aniridia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1proline4410.0PAX6, KRT12, WT1, BDNF
2ptx1449.9FSHB, PITX3

GO Terms for genes affiliated with Aniridia

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16Gene Ontology
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Biological processes related to Aniridia according to GeneCards/GeneDecks:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1lacrimal gland developmentGO:03280810.5PAX6, FOXC1
2forebrain anterior/posterior pattern specificationGO:02179710.4PAX6, SIX3
3cornea development in camera-type eyeGO:06130310.4KRT12, PAX6
4ureteric bud developmentGO:00165710.4BDNF, WT1, FOXC1
5lens morphogenesis in camera-type eyeGO:00208910.3PITX3, FOXE3
6eye developmentGO:00165410.3PAX6, FOXC1
7neuron fate commitmentGO:04866310.2PAX3, PAX6
8organ morphogenesisGO:00988710.2PITX3, PAX6, PAX3, PAX4
9lens development in camera-type eyeGO:00208810.2PAX6, PITX3
10tissue developmentGO:00988810.1WT1, FOXC1
11transcription from RNA polymerase II promoterGO:00636610.0FOXE3, PAX6, PAX3, PAX1
12negative regulation of transcription from RNA polymerase II promoterGO:00012210.0WT1, FOXE3, FOXC1, PAX3, PAX4
13positive regulation of transcription, DNA-dependentGO:0458939.9WT1, FOXC1, PITX3, OTX2, PAX6, PAX3
14heart developmentGO:0075079.8PAX3, FOXC1, WT1
15positive regulation of transcription from RNA polymerase II promoterGO:0459449.7PAX1, PAX3, PAX6, OTX2, FSHB, SIX3

Molecular functions related to Aniridia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1HMG box domain bindingGO:07183710.2PAX3, PAX6
2RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:0037059.8FOXE3, FOXC1, SIX3, PAX3
3double-stranded DNA bindingGO:0036909.7PAX4, PAX6, FOXC1, FOXE3
4sequence-specific DNA bindingGO:0435659.4PAX4, WT1, FOXE3, FOXC1, PITX3, SIX3
5sequence-specific DNA binding transcription factor activityGO:0037009.4WT1, FOXE3, FOXC1, PITX3, OTX2, PAX6

Products for genes affiliated with Aniridia

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Sources for Aniridia

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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