MCID: ANR002
MIFTS: 65

Aniridia malady

Genetic diseases, Rare diseases, Eye diseases, Fetal diseases categories

Summaries for Aniridia

About this section
Sources:
22Genetics Home Reference, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
NIH Rare Diseases:44 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 glaucoma, and has symptoms including anosmia/cacosmia/hypogeusia/hyposmia/olfactory bulb hypoplasia, lens dislocation/luxation/subluxation/ectopia lentis and hypothalamic-hypophyseal axis anomalies/hypothalamus/pituitary anomalies. 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:22 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:66 Aniridia is the absence of the iris, usually involving both eyes. It can be congenital or caused by a... more...

Description from OMIM:48 106210

GeneReviews summary for aniridia

Aliases & Classifications for Aniridia

About this section
Sources:
9Disease Ontology, 10diseasecard, 20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 22Genetics Home Reference, 48OMIM, 11DISEASES, 46Novoseek, 50Orphanet, 63UMLS, 59SNOMED-CT, 41NCIt, 28ICD9CM, 36MeSH, 27ICD10 via Orphanet, 37MESH via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet, 26ICD10
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

50
isolated aniridia:
Inheritance: Autosomal dominant,Sporadic; Prevalence: 1-9/100000; Age of onset: Childhood
aniridia:
Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

aniridia 9 10 20 44 21 22 48 11 46 50
chromosome 11, deletion 11p 63
congenital aniridia 22
isolated aniridia 50
aplasia of iris 9
absent iris 22
irideremia 22


External Ids:

Disease Ontology9 DOID:12271
NCIt41 C84563
ICD9CM28 743.45
MeSH36 D015783
OMIM48 106210
SNOMED-CT59 204161008, 69278003
ICD10 via Orphanet27 Q13.1
MESH via Orphanet37 C538293, D015783
SNOMED-CT via Orphanet60 69278003
UMLS via Orphanet64 C0003076, C2931795
ICD1026 Q13.1

Related Diseases for Aniridia

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

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

(show top 50)    (show all 118)
idRelated DiseaseScoreTop Affiliating Genes
1wilms tumor31.2PAX6, WT1, BDNF
2glaucoma31.0BDNF, FOXC1, PAX6
3wagr syndrome30.9PAX6, WT1, BDNF
4mental retardation30.7BDNF, WT1, FOXC1, PAX6
5nephroblastoma30.2WT1, PAX6
6microphthalmia30.0FOXE3, PAX6, PAX3
7axenfeld-rieger syndrome29.9FOXC1, PAX6
8cataract10.6
9gillespie syndrome10.4
10keratopathy10.4
11ataxia10.4
12cerebellar ataxia10.3
13aniridia renal agenesis psychomotor retardation10.3
14retinitis10.3
15aniridia absent patella10.3
16aniridia, cerebellar ataxia, and mental retardation10.3
17isolated aniridia10.3
18gonadoblastoma10.2
19retinal detachment10.2
20hemihypertrophy10.2
21coloboma10.1
22keratitis10.1
23acute lymphoblastic leukemia congenital sporadic aniridia10.1
24aniridia ataxia renal agenesis psychomotor retardation10.1
25aniridia-intellectual disability syndrome10.1
26aniridia - ptosis - intellectual disability - familial obesity10.1
27landau-kleffner syndrome10.1ELP4
28anterior segment mesenchymal dysgenesis10.1FOXE3
29peters plus syndrome10.1FOXC1, PAX6
30glaucoma 3, primary congenital, d10.1PAX6, FOXC1
31alveolar rhabdomyosarcoma10.0WT1, PAX3
32embryonal rhabdomyosarcoma10.0WT1, PAX3
33eye disease10.0FOXC1, PAX6
34beckwith-wiedemann syndrome10.0
35myopia10.0
36retinoblastoma10.0
37albinism10.0
38pheochromocytoma10.0
39aniridia mental retardation syndrome10.0
40aniridia ptosis mental retardation obesity familial10.0
41zazam sheriff phillips syndrome10.0
42wilms tumor-aniridia-genital anomalies-retardation syndrome10.0
43endotheliitis10.0
44rhabdomyosarcoma10.0WT1, PAX3
45developmental disabilities10.0PAX6, FOXC1, BDNF
46sensorineural hearing loss10.0BDNF, PAX3
47corneal dystrophy10.0PAX6, KRT12
48peripheral primitive neuroectodermal tumor10.0WT1, PAX3
49limbal stem cell deficiency9.9
50williams-beuren syndrome9.9

Graphical network of the top 20 diseases related to Aniridia:



Diseases related to aniridia

Symptoms for Aniridia

About this section
Sources:
48OMIM, 50Orphanet
See all sources

Symptoms by clinical synopsis from OMIM:

106210

Clinical features from OMIM:

106210

Symptoms:

50 (show all 30)
  • 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
  • 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

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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

About this section
Sources:
21GeneTests
See all sources

Genetic tests related to Aniridia:

id Genetic test Affiliating Genes
1 Aniridia21 PAX6

Anatomical Context for Aniridia

About this section
Sources:
34MalaCards
See all sources

MalaCards organs/tissues related to Aniridia:

34
Eye, Brain, Kidney, Pituitary, Hypothalamus, Olfactory bulb, Endothelial, Bone

Animal Models for Aniridia or affiliated genes

About this section
Sources:
38MGI
See all sources

Publications for Aniridia

About this section
Sources:
53PubMed
See all sources

Articles related to Aniridia:

(show top 50)    (show all 473)
idTitleAuthorsYear
1
A review of the clinical and genetic aspects of aniridia. (24138039)
2013
2
Simultaneous correction of post-traumatic aphakia and aniridia with the use of artificial iris and IOL implantation. (23793912)
2013
3
Intraocular pressure control with Ahmed glaucoma drainage device in patients with cicatricial ocular surface disease-associated or aniridia-related glaucoma. (24136034)
2013
4
Mutation analysis of PAX6 in inherited and sporadic aniridia from northeastern China. (22815628)
2012
5
PAX6 analysis of two sporadic patients from southern China with classic aniridia. (22919266)
2012
6
Aniridia rings implantation for treatment of congenital aniridia combined with cataract surgery: a case report. (22553596)
2010
7
Bilateral sporadic aniridia: review of management. (20957053)
2010
8
Aniridia associated with aphakia and secondary glaucoma. (21052919)
2010
9
Genotype/phenotype association in Indian congenital aniridia. (19390808)
2009
10
Posttraumatic aniridia following phacoemulsification. (19491999)
2009
11
Severe molecular defects of a novel FOXC1 W152G mutation result in aniridia. (19279310)
2009
12
Heterozygous FOXC1 mutation (M161K) associated with congenital glaucoma and aniridia in an infant and a milder phenotype in her mother. (18484311)
2008
13
Chronic wound state exacerbated by oxidative stress in Pax6+/- aniridia-related keratopathy. (18491289)
2008
14
Auditory and verbal working memory deficits in a child with congenital aniridia due to a PAX6 mutation. (17454233)
2007
15
Identification of novel mutant PAX6 alleles in Indian cases of familial aniridia. (16803629)
2006
16
PAX6 gene intragenic deletions in Mexican patients with congenital aniridia. (16617299)
2006
17
Bilateral Duane syndrome and bilateral aniridia. (16814183)
2006
18
Developmental and cellular factors underlying corneal epithelial dysgenesis in the Pax6+/- mouse model of aniridia. (16080917)
2005
19
Aniridia (PAX6(+/-)). (15825752)
2005
20
Abnormal lens shape on CT in a patient with Aniridia. (14762425)
2004
21
Thinning of the anterior capsule associated with congenital aniridia. (12663018)
2003
22
Keratopathy in congenital aniridia. (17075635)
2003
23
Two cases of aniridia in Llanwenog sheep. (11083048)
2000
24
Renal failure in the Denys-Drash and Wilms' tumor-aniridia syndromes. (10945603)
2000
25
Ten novel mutations found in Aniridia. (9792406)
1998
26
Four novel and two previously reported mutations of the PAX6 gene in patients with aniridia. (9452088)
1998
27
Aniridia: recent achievements in paediatric practice. (8529675)
1995
28
A new PAX6 mutation in familial aniridia. (7666404)
1995
29
Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype. (7795596)
1995
30
Retinal detachment and giant retinal tears in aniridia. (7556730)
1995
31
Results of penetrating keratoplasty in aniridia. (8442490)
1993
32
Gillespie syndrome, partial aniridia, cerebellar ataxia and mental retardation in mother and daughter. (7952360)
1993
33
Aniridia (20301534)
1993
34
PAX6 mutations in aniridia. (8364574)
1993
35
Dinucleotide repeat polymorphism in the human aniridia (PAX6) gene. (8281171)
1993
36
The results of glaucoma surgery in aniridia. (1562257)
1992
37
Rapid isolation of moderate and highly polymorphic DNA fragments mapping close to WT (Wilms' tumour) and AN2 (aniridia) on chromosome 11. (2564837)
1989
38
Specular microscopy in aniridia. (3581841)
1987
39
The c-Ha-ras1, insulin and beta-globin loci map outside the deletion associated with aniridia-Wilms' tumour. (6312329)
1983
40
Ataxia with aniridia of Gillespie: a case report. (7192834)
1981
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

About this section
Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
See all sources

UniProtKB/Swiss-Prot genetic disease variations for Aniridia:

65 (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:

1 (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

About this section
Sources:
2BioGPS, 16Gene 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

About this section
Sources:
51PathCards, 54QIAGEN, 13EMD Millipore, 5Cell Signaling Technology
See all sources

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

About this section
Sources:
46Novoseek
See all sources

Compounds related to Aniridia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1proline468.6BDNF, WT1, KRT12, PAX6

GO Terms for genes affiliated with Aniridia

About this section
Sources:
17Gene Ontology
See all sources

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Aniridia

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet