MCID: ANR002
MIFTS: 62

Aniridia malady

Genetic diseases, Rare diseases, Eye diseases, Fetal diseases categories
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Summaries for Aniridia

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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 based summary: Aniridia, also known as congenital aniridia, is related to wilms tumor and wagr syndrome, and has symptoms including aniridia/iris hypoplasia, macular dystrophy/absence/hypoplasia of the macula and visual loss/blindness/amblyopia. An important gene associated with Aniridia is PAX6 (paired box 6), and among its related pathways are Transcriptional Regulatory Network in Embryonic Stem Cell and Transcription factors in neurogenesis. The compound proline have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and kidney, and related mouse phenotypes are pigmentation and renal/urinary system.

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:65 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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Aniridia, Aliases & Descriptions:

Name: Aniridia 8 9 19 42 20 21 46 10 44
Congenital Aniridia 21
Isolated Aniridia 48
 
Aplasia of Iris 8
Absent Iris 21
Irideremia 21


Classifications:

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


Characteristics (Orphanet epidemiological data):

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


External Ids:

Disease Ontology8 DOID:12271
OMIM46 106210
MeSH34 D015783
ICD9CM27 743.45
SNOMED-CT57 204161008, 69278003
NCIt39 C84563
ICD10 via Orphanet26 Q13.1
ICD1025 Q13.1

Related Diseases for Aniridia

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

(show top 50)    (show all 117)
idRelated DiseaseScoreTop Affiliating Genes
1wilms tumor31.2PAX6, WT1, BDNF
2wagr syndrome31.1PAX6, WT1, BDNF
3mental retardation30.7BDNF, WT1, FOXC1, PAX6
4nephroblastoma30.4WT1, PAX6
5axenfeld-rieger syndrome30.2FOXC1, PAX6
6microphthalmia30.1FOXE3, PAX6, PAX3
7cataract10.6
8gillespie syndrome10.5
9keratopathy10.4
10landau-kleffner syndrome10.4ELP4
11ataxia10.3
12cerebellar ataxia10.3
13aniridia renal agenesis psychomotor retardation10.3
14anterior segment mesenchymal dysgenesis10.3FOXE3
15peters plus syndrome10.3FOXC1, PAX6
16glaucoma 3a, primary open angle, congenital, juvenile, or adult onset10.3PAX6, FOXC1
17retinitis10.3
18aniridia absent patella10.3
19aniridia, cerebellar ataxia, and mental retardation10.3
20isolated aniridia10.3
21gonadoblastoma10.2
22alveolar rhabdomyosarcoma10.2WT1, PAX3
23retinal detachment10.2
24hemihypertrophy10.2
25embryonal rhabdomyosarcoma10.2WT1, PAX3
26spiradenoma10.2FOXC1, PAX6
27coloboma10.1
28keratitis10.1
29myopia10.1
30acute lymphoblastic leukemia congenital sporadic aniridia10.1
31aniridia ataxia renal agenesis psychomotor retardation10.1
32wilms tumor-aniridia-genital anomalies-retardation syndrome10.1
33aniridia-intellectual disability syndrome10.1
34aniridia - ptosis - intellectual disability - familial obesity10.1
35endotheliitis10.1
36rhabdomyosarcoma10.1WT1, PAX3
37developmental disabilities10.1PAX6, FOXC1, BDNF
38sensorineural hearing loss10.1BDNF, PAX3
39beckwith-wiedemann syndrome10.0
40retinoblastoma10.0
41albinism10.0
42pheochromocytoma10.0
43aniridia mental retardation syndrome10.0
44aniridia ptosis mental retardation obesity familial10.0
45zazam sheriff phillips syndrome10.0
46corneal dystrophy10.0PAX6, KRT12
47peripheral primitive neuroectodermal tumor10.0WT1, PAX3
48diabetes mellitus9.9
49hodgkin's lymphoma9.9
50hydrocephalus9.9

Graphical network of the top 20 diseases related to Aniridia:



Diseases related to aniridia

Symptoms for Aniridia

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Symptoms by clinical synopsis from OMIM:

106210

Clinical features from OMIM:

106210

Symptoms:

48 (show all 8)
  • aniridia/iris hypoplasia
  • macular dystrophy/absence/hypoplasia of the macula
  • visual loss/blindness/amblyopia
  • nystagmus
  • autosomal dominant inheritance
  • glaucoma
  • corneal clouding/opacity/vascularisation
  • cataract/lens opacification

HPO human phenotypes related to Aniridia:

(show all 41)
id Description Frequency HPO Source Accession
1 visual impairment hallmark (90%) HP:0000505
2 nystagmus hallmark (90%) HP:0000639
3 abnormality of the macula hallmark (90%) HP:0001103
4 aplasia/hypoplasia of the iris hallmark (90%) HP:0008053
5 visual impairment hallmark (90%) HP:0000505
6 nystagmus hallmark (90%) HP:0000639
7 aplasia/hypoplasia of the iris hallmark (90%) HP:0008053
8 glaucoma typical (50%) HP:0000501
9 cataract typical (50%) HP:0000518
10 opacification of the corneal stroma typical (50%) HP:0007759
11 strabismus typical (50%) HP:0000486
12 glaucoma typical (50%) HP:0000501
13 ptosis typical (50%) HP:0000508
14 blepharophimosis typical (50%) HP:0000581
15 photophobia typical (50%) HP:0000613
16 optic atrophy typical (50%) HP:0000648
17 ectopia lentis typical (50%) HP:0001083
18 keratoconjunctivitis sicca typical (50%) HP:0001097
19 abnormality of the macula typical (50%) HP:0001103
20 opacification of the corneal stroma typical (50%) HP:0007759
21 corneal erosion typical (50%) HP:0200020
22 abnormality of the genital system occasional (7.5%) HP:0000078
23 abnormality of the teeth occasional (7.5%) HP:0000164
24 sensorineural hearing impairment occasional (7.5%) HP:0000407
25 microcornea occasional (7.5%) HP:0000482
26 optic nerve coloboma occasional (7.5%) HP:0000588
27 abnormality of the hypothalamus-pituitary axis occasional (7.5%) HP:0000864
28 ocular albinism occasional (7.5%) HP:0001107
29 umbilical hernia occasional (7.5%) HP:0001537
30 abnormality of the sense of smell occasional (7.5%) HP:0004408
31 aplasia/hypoplasia of the corpus callosum occasional (7.5%) HP:0007370
32 cognitive impairment occasional (7.5%) HP:0100543
33 decreased corneal thickness occasional (7.5%) HP:0100689
34 autosomal dominant inheritance HP:0000006
35 glaucoma HP:0000501
36 cataract HP:0000518
37 aniridia HP:0000526
38 optic nerve hypoplasia HP:0000609
39 nystagmus HP:0000639
40 hypoplasia of the fovea HP:0007750
41 opacification of the corneal stroma HP:0007759

Drugs & Therapeutics for Aniridia

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Drug clinical trials:

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Search NIH Clinical Center for Aniridia

Genetic Tests for Aniridia

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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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MalaCards organs/tissues related to Aniridia:

32
Eye, Brain, Kidney, Endothelial, Bone, Pituitary

Animal Models for Aniridia or affiliated genes

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Publications for Aniridia

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Articles related to Aniridia:

(show top 50)    (show all 492)
idTitleAuthorsYear
1
Successful surgical repair of a massive window duct in a 1-month old with aniridia and pulmonary interstitial glycogenosis. (24848376)
2014
2
A review of the clinical and genetic aspects of aniridia. (24138039)
2013
3
Simultaneous correction of post-traumatic aphakia and aniridia with the use of artificial iris and IOL implantation. (23793912)
2013
4
Intraocular pressure control with Ahmed glaucoma drainage device in patients with cicatricial ocular surface disease-associated or aniridia-related glaucoma. (24136034)
2013
5
Mutation analysis of PAX6 in inherited and sporadic aniridia from northeastern China. (22815628)
2012
6
PAX6 analysis of two sporadic patients from southern China with classic aniridia. (22919266)
2012
7
Aniridia rings implantation for treatment of congenital aniridia combined with cataract surgery: a case report. (22553596)
2010
8
Bilateral sporadic aniridia: review of management. (20957053)
2010
9
Aniridia associated with aphakia and secondary glaucoma. (21052919)
2010
10
Genotype/phenotype association in Indian congenital aniridia. (19390808)
2009
11
Posttraumatic aniridia following phacoemulsification. (19491999)
2009
12
Severe molecular defects of a novel FOXC1 W152G mutation result in aniridia. (19279310)
2009
13
Heterozygous FOXC1 mutation (M161K) associated with congenital glaucoma and aniridia in an infant and a milder phenotype in her mother. (18484311)
2008
14
Chronic wound state exacerbated by oxidative stress in Pax6+/- aniridia-related keratopathy. (18491289)
2008
15
Auditory and verbal working memory deficits in a child with congenital aniridia due to a PAX6 mutation. (17454233)
2007
16
Identification of novel mutant PAX6 alleles in Indian cases of familial aniridia. (16803629)
2006
17
PAX6 gene intragenic deletions in Mexican patients with congenital aniridia. (16617299)
2006
18
Bilateral Duane syndrome and bilateral aniridia. (16814183)
2006
19
Developmental and cellular factors underlying corneal epithelial dysgenesis in the Pax6+/- mouse model of aniridia. (16080917)
2005
20
Aniridia (PAX6(+/-)). (15825752)
2005
21
Abnormal lens shape on CT in a patient with Aniridia. (14762425)
2004
22
Thinning of the anterior capsule associated with congenital aniridia. (12663018)
2003
23
Keratopathy in congenital aniridia. (17075635)
2003
24
Population-based risk estimates of Wilms tumor in sporadic aniridia. A comprehensive mutation screening procedure of PAX6 identifies 80% of mutations in aniridia. (11479730)
2001
25
Two cases of aniridia in Llanwenog sheep. (11083048)
2000
26
Renal failure in the Denys-Drash and Wilms' tumor-aniridia syndromes. (10945603)
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: recent achievements in paediatric practice. (8529675)
1995
30
A new PAX6 mutation in familial aniridia. (7666404)
1995
31
Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype. (7795596)
1995
32
Retinal detachment and giant retinal tears in aniridia. (7556730)
1995
33
Gillespie syndrome, partial aniridia, cerebellar ataxia and mental retardation in mother and daughter. (7952360)
1993
34
Aniridia (20301534)
1993
35
PAX6 mutations in aniridia. (8364574)
1993
36
Dinucleotide repeat polymorphism in the human aniridia (PAX6) gene. (8281171)
1993
37
The results of glaucoma surgery in aniridia. (1562257)
1992
38
Rapid isolation of moderate and highly polymorphic DNA fragments mapping close to WT (Wilms' tumour) and AN2 (aniridia) on chromosome 11. (2564837)
1989
39
Specular microscopy in aniridia. (3581841)
1987
40
The c-Ha-ras1, insulin and beta-globin loci map outside the deletion associated with aniridia-Wilms' tumour. (6312329)
1983
41
Catalase levels in patients with aniridia and/or Wilms' tumor: utility and limitations. (6273073)
1981
42
The treatment of glaucoma secondary aniridia. (6261125)
1981
43
Aniridia caused by a heritable chromosome 11 deletion. (230439)
1979
44
Aniridia, cataracts, and Wilms' tumor in monozygous twins. (209691)
1978
45
Progressive changes in the angle in congenital aniridia, with development of glaucoma. (4423758)
1974
46
Frequent occurrence of hypoplastic optic disks in patients with aniridia. (4362165)
1974
47
Progressive changes in the angle in congenital aniridia, with development of glaucoma. (4462243)
1974
48
Wilms' tumor and congenital aniridia. (4309913)
1969
49
Sporadic aniridia and Wilms' tumor. (4305152)
1969
50
Aniridia with microcornea. Report of a case. (13947900)
1962

Variations for Aniridia

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UniProtKB/Swiss-Prot genetic disease variations for Aniridia:

64 (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

Clinvar genetic disease variations for Aniridia:

6 (show all 13)
id Gene Name Type Significance SNP ID Assembly Location
1PAX6PAX6, 2-BP INSinsertionPathogenic
2PAX6PAX6, EXON G DELdeletionPathogenic
3PAX6NM_000280.4(PAX6): c.406C> T (p.Gln136Ter)single nucleotide variantPathogenicrs121907912GRCh37Chr 11, 31822356: 31822356
4PAX6NM_000280.4(PAX6): c.76C> G (p.Arg26Gly)single nucleotide variantPathogenicrs121907913GRCh37Chr 11, 31824317: 31824317
5PAX6NM_000280.4(PAX6): c.307C> T (p.Arg103Ter)single nucleotide variantPathogenicrs121907914GRCh37Chr 11, 31823159: 31823159
6PAX6PAX6, IVS12DS, G-C, -1single nucleotide variantPathogenic
7PAX6NM_000280.4(PAX6): c.607C> T (p.Arg203Ter)single nucleotide variantPathogenicrs121907916GRCh37Chr 11, 31816253: 31816253
8PAX6NM_000280.4(PAX6): c.718C> T (p.Arg240Ter)single nucleotide variantPathogenicrs121907917GRCh37Chr 11, 31815627: 31815627
9PAX6PAX6, IVS11AS, A-G, -2single nucleotide variantPathogenic
10PAX6NM_000280.4(PAX6): c.1268A> T (p.Ter423Leu)single nucleotide variantPathogenicrs121907922GRCh37Chr 11, 31811483: 31811483
11PAX6NM_000280.4(PAX6): c.725G> C (p.Arg242Thr)single nucleotide variantPathogenicrs121907927GRCh37Chr 11, 31815620: 31815620
12PAX6NM_000280.4(PAX6): c.357C> A (p.Ser119Arg)single nucleotide variantPathogenicrs121907928GRCh37Chr 11, 31823109: 31823109
13PAX6NM_000280.4(PAX6): c.112C> T (p.Arg38Trp)single nucleotide variantPathogenicrs397514640GRCh37Chr 11, 31824281: 31824281

Expression for genes affiliated with Aniridia

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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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Pathways related to Aniridia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7FOXC1, PAX6
29.7PAX6, PAX3
39.5FOXC1, PAX3

Compounds for genes affiliated with Aniridia

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

idCompoundScoreTop Affiliating Genes
1proline448.6BDNF, WT1, KRT12, PAX6

GO Terms for genes affiliated with Aniridia

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Biological processes related to Aniridia according to GeneCards/GeneDecks:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1lacrimal gland developmentGO:03280810.0FOXC1, PAX6
2eye developmentGO:0016549.9FOXC1, PAX6
3neuron fate commitmentGO:0486639.9PAX3, PAX6
4tissue developmentGO:0098889.8WT1, FOXC1
5camera-type eye developmentGO:0430109.7FOXC1, WT1
6organ morphogenesisGO:0098879.7PAX6, PAX3
7heart developmentGO:0075079.3WT1, FOXC1, PAX3
8kidney developmentGO:0018229.3WT1, FOXC1
9ureteric bud developmentGO:0016579.3BDNF, WT1, FOXC1
10regulation of sequence-specific DNA binding transcription factor activityGO:0510909.2FOXC1, FOXE3
11pattern specification processGO:0073899.1FOXC1, FOXE3
12positive regulation of transcription, DNA-templatedGO:0458939.0PAX3, PAX6, FOXC1, WT1
13positive regulation of transcription from RNA polymerase II promoterGO:0459448.9PAX3, PAX6, FOXC1, WT1
14transcription from RNA polymerase II promoterGO:0063668.6PAX3, PAX6, FOXE3, FOXC1
15negative regulation of transcription from RNA polymerase II promoterGO:0001228.5PAX3, FOXE3, FOXC1, WT1

Molecular functions related to Aniridia according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1HMG box domain bindingGO:0718379.6PAX6, PAX3
2DNA binding, bendingGO:0083019.2FOXC1, FOXE3
3double-stranded DNA bindingGO:0036909.0FOXC1, FOXE3, PAX6
4RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:0037058.8FOXC1, FOXE3, PAX3
5transcription factor bindingGO:0081348.6FOXC1, FOXE3, PAX6
6sequence-specific DNA bindingGO:0435658.3PAX3, FOXE3, FOXC1, WT1
7sequence-specific DNA binding transcription factor activityGO:0037008.1PAX3, PAX6, FOXE3, FOXC1, WT1

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet