MCID: ANR002
MIFTS: 59

Aniridia malady

Eye, Fetal categories

Summaries for Aniridia

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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 wilms tumor and wagr syndrome, and has symptoms including corpus callosum/septum pellucidum total/partial agenesis, intellectual deficit/mental/psychomotor retardation/learning disability and nystagmus. 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 brain, kidney and skeletal muscle, 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:64 Aniridia is the absence of the iris, usually involving both eyes. It can be congenital or caused by a... more...

Description from OMIM:47 106210

GeneReviews summary for aniridia

Aliases & Classifications for Aniridia

Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 40NCIt, 57SNOMED-CT, 27ICD9CM, 35MeSH, 26ICD10 via Orphanet, 36MESH via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 25ICD10
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
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 43 20 21 47 10 45 49
chromosome 11, deletion 11p 61
congenital aniridia 21
isolated aniridia 49
aplasia of iris 8
deletion 11p 49
absent iris 21
irideremia 21


External Ids:

Disease Ontology8 DOID:12271
OMIM47 106210
NCIt40 C84563
ICD9CM27 743.45
MeSH35 D015783
SNOMED-CT57 204161008, 69278003
ICD10 via Orphanet26 Q13.1
MESH via Orphanet36 C538293, D015783
SNOMED-CT via Orphanet58 69278003
UMLS via Orphanet62 C0003076, C2931795
ICD1025 Q13.1

Related Diseases for Aniridia

Sources:
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 120)
idRelated DiseaseScoreTop Affiliating Genes
1wilms tumor31.1PAX6, WT1, BDNF
2wagr syndrome30.8BDNF, WT1, PRRG4, FSHB, PAX6
3mental retardation30.6PAX6, FOXC1, WT1, BDNF
4cataract, congenital30.5PAX6, PITX3
5coloboma30.2SIX3, KIR2DS4, OTX2, PAX6
6microphthalmia30.0FOXE3, PITX3, SIX3, OTX2, PAX6, PAX3
7axenfeld-rieger syndrome29.7FOXC1, PAX6
8glaucoma, congenital10.4
9ataxia10.3
10aniridia mental retardation syndrome10.3
11aniridia renal agenesis psychomotor retardation10.3
12isolated aniridia10.3
13aniridia absent patella10.2
14gonadoblastoma10.2
15aniridia, cerebellar ataxia and mental deficiency10.2
16familial wilms tumor10.2
17hemihypertrophy10.2
18n syndrome10.1
19acute lymphoblastic leukemia congenital sporadic aniridia10.1
20aniridia ataxia renal agenesis psychomotor retardation10.1
21aniridia, cerebellar ataxia, and mental retardation10.1
22ptosis, congenital10.1
23aniridia-intellectual deficit syndrome10.1
24aniridia - ptosis - intellectual deficit - familial obesity10.1
25bod syndrome10.0
26limbal stem cell deficiency10.0
27renal wilms' tumor10.0
28beckwith-wiedemann syndrome10.0
29albinism10.0
30pheochromocytoma10.0
31aniridia ptosis mental retardation obesity familial10.0
32zazam sheriff phillips syndrome10.0
33wilms tumor-aniridia-genital anomalies-retardation syndrome10.0
34wilms tumor, somatic10.0
35iris hypoplasia and glaucoma10.0FOXC1
36waardenburg's syndrome10.0KIR2DS4, PAX3
37nephroblastoma10.0PAX6, WT1
38cataract10.0PITX3, PAX6
39anterior segment mesenchymal dysgenesis10.0PITX3, FOXE3
40peters plus syndrome10.0PAX6, FOXC1
41congenital diaphragmatic hernia10.0PAX3
42glaucoma 3, primary congenital, d10.0PAX6, FOXC1
43neural tube defects10.0PAX3
44klippel-feil syndrome10.0PAX1
45anophthalmia plus syndrome10.0OTX2, PAX6
46blindness10.0FOXC1
47glaucoma10.0PAX6, FOXC1, BDNF
48developmental disabilities10.0PAX6, FOXC1, BDNF
49anophthalmia/microphthalmia10.0OTX2, SIX3, PITX3
50alveolar rhabdomyosarcoma10.0PAX3, WT1

Graphical network of the top 20 diseases related to Aniridia:



Diseases related to aniridia

Clinical Features for Aniridia

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

106210

Clinical synopsis from OMIM:

106210

Symptoms:

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

Drugs & Therapeutics for Aniridia

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

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

Sources:
20GeneTests
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Genetic tests related to Aniridia:

id Genetic test Affiliating Genes
1 Aniridia20 PAX6

Anatomical Context for Aniridia

Sources:
33MalaCards
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MalaCards organs/tissues related to Aniridia:

33
Brain, Kidney, Skeletal muscle, T cells, Endothelial, Pituitary

Animal Models for Aniridia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Aniridia

Sources:
51PubMed
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Articles related to Aniridia:

(show top 50)    (show all 480)
idTitleAuthorsYear
1
Black diaphragm intraocular lens implantation and penetrating keratoplasty in aphakic eyes with traumatic aniridia. (23638421)
2013
2
Disruption of Autoregulatory Feedback by a Mutation in a Remote, Ultraconserved PAX6 Enhancer Causes Aniridia. (24290376)
2013
3
Ocular and craniofacial phenotypes in a large Brazilian family with congenital aniridia. (24266705)
2013
4
Mutation analysis of paired box 6 gene in inherited aniridia in northern China. (23734086)
2013
5
Insertional translocation of 15q25-q26 into 11p13 and duplication at 8p23.1 characterized by high resolution arrays in a boy with congenital malformations and aniridia. (22991255)
2012
6
Microphthalmia, late onset keratitis, and iris coloboma/aniridia in a family with a novel PAX6 mutation. (22171686)
2012
7
A 556 kb deletion in the downstream region of the PAX6 gene causes familial aniridia and other eye anomalies in a Chinese family. (21321669)
2011
8
Traumatic aniridia in spared-lens open-globe rupture eye trauma. (21468733)
2011
9
What's your diagnosis? Aniridic epitheliopathy associated with hereditary aniridia (PAX6+/-). (23627004)
2011
10
Congenital aniridia variant: minimally abnormal irides with severe limbal stem cell deficiency. (21376398)
2011
11
Aniridia rings implantation for treatment of congenital aniridia combined with cataract surgery: a case report. (22553596)
2010
12
Corneal involvement in congenital aniridia. (20567200)
2010
13
Complications and visual prognosis in children with aniridia. (20635810)
2010
14
Analysis of PAX6 gene in a Chinese family with congenital aniridia]. (20137456)
2009
15
Epidemiology of aniridia in Sweden and Norway. (18494745)
2008
16
PAX6 analysis of two unrelated families from the Arabian Peninsula with classic hereditary aniridia. (18766996)
2008
17
Glaucoma with aniridia and isolated congenital glaucoma in siblings: contribution and limits of genetics]. (17287671)
2007
18
Bilateral Duane syndrome and bilateral aniridia. (16814183)
2006
19
Traumatic aniridia in a pseudophakic eye. (16565019)
2006
20
Analysis of PAX6 gene in a Chinese aniridia family. (16934188)
2006
21
PAX6 gene variations associated with aniridia in south India. (15086958)
2004
22
Bilateral cataract surgery combined with implantation of a brown diaphragm intraocular lens after trabeculectomy for congenital aniridia. (12449232)
2002
23
Aniridia. (11912365)
2002
24
Management of post-traumatic aniridia with retinal detachment. (12567593)
2001
25
Two cases of aniridia in Llanwenog sheep. (11083048)
2000
26
Black diaphragm aniridia intraocular lens for congenital aniridia: long-term follow-up. Reinhard T* engelhardt S, sundmacher R. J cataract refract surg 2000;26:375-381 (11004319)
2000
27
Ten novel mutations found in Aniridia. (9792406)
1998
28
Four novel and two previously reported mutations of the PAX6 gene in patients with aniridia. (9452088)
1998
29
Aniridia in only one identical twin. (8796168)
1996
30
Screening for Wilms' tumour in patients with aniridia, Beckwith syndrome, or hemihypertrophy. (7700167)
1995
31
Detection of submicroscopic chromosomal deletions in aniridia patients using fluorescence in-situ hybridization and a panel of cosmids covering the wt1 gene. (21573456)
1993
32
Genetics of aniridia: the Aniridia-Wilms' Tumor Association. (8392036)
1993
33
Membranous cataract in association with aniridia. (8295372)
1993
34
Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene. (1345175)
1992
35
DNA diagnosis in a family with autosomal dominant aniridia. (1815167)
1991
36
Specular microscopy in aniridia. (3581841)
1987
37
Familial isolated aniridia associated with a translocation involving chromosomes 11 and 22 [t(11;22)(p13;q12.2)]. (3754537)
1986
38
High-resolution studies in patients with aniridia-Wilms tumor association. (2991118)
1985
39
Del11p13/nephroblastoma without aniridia. (6092262)
1984
40
Regional mapping of catalase and Wilms tumor--aniridia, genitourinary abnormalities, and mental retardation triad loci to the chromosome segment 11p1305----p1306. (6325323)
1984
41
Del 11p/aniridia complex. Report of three patients and review of 37 observations from the literature. (6094051)
1984
42
Management of secondary glaucoma in aniridia. (7166413)
1982
43
Association of del(11)(p15.1p12), aniridia, catalase deficiency, and cardiomyopathy. (6127950)
1982
44
The treatment of glaucoma secondary aniridia. (6261125)
1981
45
Aniridia, male pseudohermaphroditism, gonadoblastoma, mental retardation, and del 11p13. (6114032)
1981
46
Aniridia, mental retardation and an unbalanced reciprocal translocation of chromosomes 8 and 11 with an interstitial deletion of 11p. (7215394)
1981
47
Neoplasms associated with hemihypertophy, Beckwith-Wiedemann syndrome and aniridia. (6249939)
1980
48
Aniridia and interstitial deletion of the short arm of chromosome 11. (7442353)
1980
49
Aniridia-Wilms' tumor association: evidence for specific deletion of 11p13. (225131)
1979
50
Congenital aniridia; report of a case. (14905520)
1951

Genetic Variations for Aniridia

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Aniridia:

63 (show all 28)
id Symbol AA change Variation 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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
38NCBI BioSystems Database, 52QIAGEN, 12EMD Millipore
See all sources

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

Sources:
45Novoseek
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Compounds related to Aniridia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1proline4510.0PAX6, KRT12, WT1, BDNF
2ptx1459.9FSHB, PITX3

GO Terms for genes affiliated with Aniridia

Sources:
16Gene Ontology
See all sources

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

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