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
Aniridia with a Heterozygous PAX6 Mutation in which the Pituitary Function was Partially Impaired. (24390526)
2014
2
Inherited KIF21A and PAX6 gene mutations in a boy with congenital fibrosis of extraocular muscles and aniridia. (23799907)
2013
3
ExPRESS Shunt Surgery for Glaucoma with Post-Traumatic Aniridia. (24175645)
2013
4
Treatment of aniridia with Boston type I keratoprosthesis. (23449480)
2013
5
A [c.566-2A>G] heterozygous mutation in the PAX6 gene causes aniridia with mild visual impairment. (21274015)
2011
6
Combined aniridia ring implantation and cataract surgery in an Axenfeld-Rieger syndrome: a UBM report. (21139500)
2011
7
Posttraumatic aniridia following phacoemulsification. (19491999)
2009
8
Transscleral sulcus fixation of a small-diameter iris-diaphragm intraocular lens in combined penetrating keratoplasty and cataract extraction for correction of traumatic cataract, aniridia, and corneal scarring. (19027578)
2008
9
Multiplex ligation-dependent probe amplification (MLPA) enhances the molecular diagnosis of aniridia and related disorders. (18483559)
2008
10
A novel PAX6 mutation (c.1286delC) in the patients with hereditary congenital aniridia.]. (18930890)
2008
11
Implantation of the Artisan iris reconstruction intraocular lens in 5 children with aphakia and partial aniridia caused by perforating ocular trauma. (18329923)
2008
12
Inherited partial aniridia, microcornea with high myopia and Bergmeister's papilla: a new phenotypic expression. (18292626)
2008
13
A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation. (17595013)
2007
14
Study of genetic mutation locus in a family with congenital aniridia]. (17415970)
2006
15
Developmental and cellular factors underlying corneal epithelial dysgenesis in the Pax6+/- mouse model of aniridia. (16080917)
2005
16
Black diaphragm aniridia intraocular lens for aniridia and albinism. (15931549)
2005
17
Severe ocular surface disease and glaucoma in a newborn with aniridia. (16213405)
2005
18
PAX6 mutation as a genetic factor common to aniridia and glucose intolerance. (11756345)
2002
19
Two nonsense mutations of PAX6 in two Japanese aniridia families: case report and review of the literature. (10887930)
2000
20
Mutation in the PAX6 gene in twenty patients with aniridia. (10737978)
2000
21
Results of filtering surgery in young patients with aniridia. (11043521)
2000
22
The incidence of PAX6 mutation in patients with simple aniridia: an evaluation of mutation detection in 12 cases. (9138149)
1997
23
Aniridia: recent achievements in paediatric practice. (8529675)
1995
24
Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype. (7795596)
1995
25
Nonsense mutation in the homeobox region of the aniridia gene. (7912607)
1994
26
Association and chance occurrence of aniridia and retinoblastoma. (7977618)
1994
27
Lateral tarsorrhaphy and disposable soft contact lenses in aniridia patients after penetrating keratoplasty. (8336898)
1993
28
The results of glaucoma surgery in aniridia. (1562257)
1992
29
Criteria to detect minimal expressivity within families with autosomal dominant aniridia. (1463039)
1992
30
Aniridia--Wilms' tumour association--a case with 11p 13-14.1 deletion and ventricular septal defect. (1338056)
1992
31
Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region. (1684738)
1991
32
Translocation t(5;11)(q13.1;p13) associated with familial isolated aniridia. (2817003)
1989
33
Aniridia, Wilms' tumor and human chromosome 11. (2560823)
1989
34
Family with aniridia, microcornea, and spontaneously reabsorbed cataract. (3355417)
1988
35
Aniridia with congenital ptosis and glaucoma: a family study. (3358595)
1988
36
Wilms' tumor detection in patients with sporadic aniridia. Successful use of ultrasound. (3004194)
1986
37
Congenital aniridia in a pony. (3972691)
1985
38
Aniridia - Wilm's tumor association (AWTA): a case report with detailed cytogenetic studies. (21164251)
1985
39
Familial aniridia. (6676322)
1983
40
Corneal astigmatism associated with aniridia. (6980269)
1982
41
A case of congenital aniridia and familial pheochromocytoma--with special reference to aniridia-Wilms' tumor syndrome. (6306309)
1982
42
Toward clinical microcytogenetics: the aniridia and the retinoblastoma stories. (6298811)
1982
43
Aniridia-Wilms tumor association. (6259310)
1981
44
Corneal changes in aniridia. (375739)
1979
45
Aniridia, cataracts, and Wilms tumor. (212955)
1978
46
Progressive changes in the angle in congenital aniridia, with development of glaucoma. (4462243)
1974
47
Traumatic aniridia. (4440713)
1974
48
Scaphocephaly, bilateral aniridia, and bilateral anterior polar cataract with posterior dislocation of the lens. (5097399)
1971
49
Aniridia congenita. (20260313)
1947
50
A CONSIDERATION OF ANIRIDIA, WITH A PEDIGREE. (18170387)
1947

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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Sources:
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