MCID: ISL011
MIFTS: 33

Isolated Aniridia

Categories: Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Isolated Aniridia

MalaCards integrated aliases for Isolated Aniridia:

Name: Isolated Aniridia 58

Characteristics:

Orphanet epidemiological data:

58
isolated aniridia
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood;

Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q13.1
UMLS via Orphanet 72 C0003076
Orphanet 58 ORPHA250923

Summaries for Isolated Aniridia

MalaCards based summary : Isolated Aniridia is related to aniridia 2 and cataract. An important gene associated with Isolated Aniridia is PAX6 (Paired Box 6), and among its related pathways/superpathways is Mesodermal Commitment Pathway. Affiliated tissues include eye and brain, and related phenotypes are nystagmus and aniridia

Related Diseases for Isolated Aniridia

Diseases related to Isolated Aniridia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 34)
# Related Disease Score Top Affiliating Genes
1 aniridia 2 31.9 PAX6 ELP4
2 cataract 29.3 WT1 PAX6 FOXC1 ELP4
3 aniridia 1 28.9 WT1 TRIM44 PAX6DRR PAX6 LOC106007493 LOC105980073
4 aniridia and absent patella 11.0
5 foveal hypoplasia 1 10.2 PAX6 ELP4
6 coloboma, ocular, autosomal dominant 10.2 PAX6 ELP4
7 pax6-related aniridia 10.1 WT1 PAX6
8 dopamine beta-hydroxylase deficiency 10.1 WT1 PAX6
9 optic nerve hypoplasia, bilateral 10.1 PAX6 ELP4
10 acquired color blindness 10.0 PAX6 FOXC1
11 hydrophthalmos 10.0 PAX6 FOXC1
12 axenfeld-rieger syndrome, type 1 10.0 PAX6 FOXC1
13 coloboma of optic nerve 10.0 PAX6 ELP4 DNAJC24
14 anterior segment dysgenesis 1 10.0 PAX6 FOXC1
15 intestinal atresia 10.0 PAX6 FOXC1
16 juvenile glaucoma 10.0 PAX6 FOXC1
17 benign epilepsy with centrotemporal spikes 10.0 PAX6 ELP4 DNAJC24
18 primary congenital glaucoma 10.0 PAX6 FOXC1
19 persistent hyperplastic primary vitreous 10.0 PAX6 FOXC1
20 hereditary wilms' tumor 9.9 WT1 PAX6 ELP4
21 glaucoma 3, primary congenital, a 9.9 PAX6 FOXC1
22 keratitis, hereditary 9.9 PAX6 FOXC1 ELP4
23 coloboma of macula 9.9 PAX6 FOXC1 ELP4
24 axenfeld-rieger syndrome, type 3 9.9 PAX6 FOXC1
25 uveal disease 9.9 WT1 PAX6
26 gillespie syndrome 9.9 PAX6 FOXC1 DNAJC24
27 corneal ulcer 9.9
28 cataract-glaucoma 9.9
29 nail-patella syndrome 9.8 WT1 FOXC1
30 hypertelorism 9.7 FOXC1 ELP4
31 anterior segment dysgenesis 5 9.5 PAX6 LOC106007493 LOC105980073 ELP4 DNAJC24
32 iris disease 9.4 WT1 PAX6 FOXC1 ELP4 DNAJC24
33 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 9.2 WT1 PAX6 FOXC1 ELP4 DNAJC24 ARL14EP
34 peters-plus syndrome 9.2 PAX6 LOC106007493 LOC105980073 FOXC1 ELP4 DNAJC24

Graphical network of the top 20 diseases related to Isolated Aniridia:



Diseases related to Isolated Aniridia

Symptoms & Phenotypes for Isolated Aniridia

Human phenotypes related to Isolated Aniridia:

58 31 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000639
2 aniridia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000526
3 visual loss 58 31 hallmark (90%) Very frequent (99-80%) HP:0000572
4 aplasia/hypoplasia of the macula 58 31 hallmark (90%) Very frequent (99-80%) HP:0008059
5 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
6 glaucoma 58 31 frequent (33%) Frequent (79-30%) HP:0000501
7 peters anomaly 58 31 frequent (33%) Frequent (79-30%) HP:0000659

Drugs & Therapeutics for Isolated Aniridia

Search Clinical Trials , NIH Clinical Center for Isolated Aniridia

Genetic Tests for Isolated Aniridia

Anatomical Context for Isolated Aniridia

MalaCards organs/tissues related to Isolated Aniridia:

40
Eye, Brain

Publications for Isolated Aniridia

Articles related to Isolated Aniridia:

(show all 42)
# Title Authors PMID Year
1
Disruption of autoregulatory feedback by a mutation in a remote, ultraconserved PAX6 enhancer causes aniridia. 6
24290376 2013
2
Compound heterozygosity for mutations in PAX6 in a patient with complex brain anomaly, neonatal diabetes mellitus, and microophthalmia. 6
19876904 2009
3
A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation. 6
17595013 2007
4
Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia. 6
17406642 2007
5
Ocular findings in Gillespie-like syndrome: association with a new PAX6 mutation. 6
17148041 2006
6
Molecular analysis of a human PAX6 homeobox mutant. 6
16493447 2006
7
Heterozygous mutations of OTX2 cause severe ocular malformations. 6
15846561 2005
8
PAX6 and congenital eye malformations. 6
14561779 2003
9
Missense mutations in the DNA-binding region and termination codon in PAX6. 6
12552561 2003
10
National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology. 6
11826019 2002
11
PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation. 6
11553050 2001
12
Six3, a medaka homologue of the Drosophila homeobox gene sine oculis is expressed in the anterior embryonic shield and the developing eye. 6
9651515 1998
13
PAX6 mutations reviewed. 6
9482572 1998
14
Influence of PAX6 gene dosage on development: overexpression causes severe eye abnormalities. 6
8689689 1996
15
A new PAX6 mutation in familial aniridia. 6
7666404 1995
16
Three novel aniridia mutations in the human PAX6 gene. 6
7550230 1995
17
PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects. 6
7951315 1994
18
Mutations in the PAX6 gene in patients with hereditary aniridia. 6
8111379 1993
19
The human PAX6 gene is mutated in two patients with aniridia. 6
1302030 1992
20
Heterogeneity in dominant anterior segment malformations. 6
1954207 1991
21
Anterior segment dysgenesis keratolenticular adhesion and aniridia. 6
6988567 1980
22
Congenital central corneal leukoma (Peters' anomaly). 6
1251879 1976
23
A novel PAX6 mutation causes congenital aniridia with or without retinal detachment. 61
30985247 2019
24
Extension of the mutation spectrum of PAX6 from three Chinese congenital aniridia families and identification of male gonadal mosaicism. 61
30334364 2018
25
Delayed Onset of Sleep in Adolescents With PAX6 Haploinsufficiency. 61
29343077 2018
26
PAX6 allelic heterogeneity in Mexican congenital aniridia patients: expanding the mutational spectrum with seven novel pathogenic variants. 61
28488383 2017
27
Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH. 61
28231309 2017
28
A novel splice site mutation in the PAX6 gene in a Korean family with isolated aniridia. 61
25696017 2015
29
Isolated traumatic aniridia after trabeculectomy in a pseudophakic eye. 61
23571254 2014
30
[Clinical Findings in Family with Aniridia due the PAX6 Mutation]. 61
25354820 2014
31
Association of brain-derived neurotrophic factor (BDNF) haploinsufficiency with lower adaptive behaviour and reduced cognitive functioning in WAGR/11p13 deletion syndrome. 61
23517654 2013
32
Guidelines for genetic study of aniridia. 61
23597644 2013
33
A splice site mutation in the PAX6 gene which induces exon skipping causes autosomal dominant inherited aniridia. 61
22509105 2012
34
A novel heterozygous deletion within the 3' region of the PAX6 gene causing isolated aniridia in a large family group. 61
19793656 2009
35
Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia. 61
18241071 2008
36
A rare case of aniridia and balanced translocation (5;11) (p15.3;q22) arising in the same subject: a challenge for genetic counseling. 61
16719277 2006
37
PAX6-Related Aniridia 61
20301534 2003
38
Corneal laceration with total but isolated aniridia caused by a pecking injury. 61
11020631 2000
39
A FISH approach to defining the extent and possible clinical significance of deletions at the WAGR locus. 61
9132491 1997
40
Aniridia: recent achievements in paediatric practice. 61
8529675 1995
41
Translocation t(5;11)(q13.1;p13) associated with familial isolated aniridia. 61
2817003 1989
42
Familial isolated aniridia associated with a translocation involving chromosomes 11 and 22 [t(11;22)(p13;q12.2)]. 61
3754537 1986

Variations for Isolated Aniridia

ClinVar genetic disease variations for Isolated Aniridia:

6 (show top 50) (show all 323)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PAX6 NM_000280.4(PAX6):c.725G>C (p.Arg242Thr) SNV Pathogenic 3480 rs121907927 11:31815620-31815620 11:31794072-31794072
2 PAX6 NM_001310160.1(PAX6):c.-383C>A SNV Pathogenic 3481 rs121907928 11:31823109-31823109 11:31801561-31801561
3 PAX6 NM_000280.4(PAX6):c.-129+2T>A SNV Pathogenic 3482 rs878852979 11:31832374-31832374 11:31810826-31810826
4 PAX6 NM_000280.4(PAX6):c.771G>A (p.Trp257Ter) SNV Pathogenic 3483 rs121907929 11:31815345-31815345 11:31793797-31793797
5 PAX6 NM_001310160.1(PAX6):c.-670C>T SNV Pathogenic 40090 rs397514640 11:31824281-31824281 11:31802733-31802733
6 PAX6DRR NM_019040.5(ELP4):c.1143+14176C>A SNV Pathogenic 120328 rs606231388 11:31685945-31685945 11:31664397-31664397
7 PAX6 NM_000280.4(PAX6):c.1033-2A>G SNV Pathogenic 3468 rs794726661 11:31812410-31812410 11:31790862-31790862
8 PAX6 NM_000280.4(PAX6):c.718C>T (p.Arg240Ter) SNV Pathogenic 3467 rs121907917 11:31815627-31815627 11:31794079-31794079
9 PAX6 NM_000280.4(PAX6):c.607C>T (p.Arg203Ter) SNV Pathogenic 3466 rs121907916 11:31816253-31816253 11:31794705-31794705
10 PAX6 NM_000280.4(PAX6):c.1183G>C (p.Gly395Arg) SNV Pathogenic 3465 rs1131692318 11:31812258-31812258 11:31790710-31790710
11 PAX6 NM_000280.4(PAX6):c.307C>T (p.Arg103Ter) SNV Pathogenic 3464 rs121907914 11:31823159-31823159 11:31801611-31801611
12 PAX6 NM_001310160.1(PAX6):c.-3C>T SNV Pathogenic 3461 rs121907912 11:31822356-31822356 11:31800808-31800808
13 PAX6 PAX6, EXON G DEL Deletion Pathogenic 3460
14 PAX6 NM_000280.4(PAX6):c.847_848dup (p.Ser283fs) Duplication Pathogenic 3459 rs1565200471 11:31815267-31815268 11:31793719-31793720
15 ARL14EP GRCh37/hg19 11p15.1-13(chr11:18536224-31923308)x1 copy number loss Pathogenic 376757 11:18536224-31923308
16 PAX6 GRCh37/hg19 11p13(chr11:31820789-31824052)x1 copy number loss Pathogenic 376755 11:31820789-31824052
17 DNAJC24 GRCh37/hg19 11p13(chr11:31147306-31714853)x1 copy number loss Pathogenic 376752 11:31147306-31714853
18 DNAJC24 GRCh37/hg19 11p13(chr11:31083877-31704548)x1 copy number loss Pathogenic 376758 11:31083877-31704548
19 ELP4 GRCh37/hg19 11p13(chr11:31760458-31823847)x1 copy number loss Pathogenic 376756 11:31760458-31823847
20 DNAJC24 GRCh37/hg19 11p13(chr11:31186493-31698208)x1 copy number loss Pathogenic 376754 11:31186493-31698208
21 PAX6 NM_000280.4(PAX6):c.357C>G (p.Ser119Arg) SNV Pathogenic 430991 rs121907928 11:31823109-31823109 11:31801561-31801561
22 PAX6 NM_001368911.1(PAX6):c.1078-827_1078-824del Microsatellite Pathogenic 431007 rs1131692317 11:31812391-31812394 11:31790843-31790846
23 PAX6 NM_000280.4(PAX6):c.265C>T (p.Gln89Ter) SNV Pathogenic 430986 rs1131692297 11:31823201-31823201 11:31801653-31801653
24 PAX6 NM_000280.4(PAX6):c.300G>A (p.Trp100Ter) SNV Pathogenic 430989 rs1131692300 11:31823166-31823166 11:31801618-31801618
25 PAX6 NM_000280.4(PAX6):c.760del (p.Ile254fs) Deletion Pathogenic 431002 rs1131692312 11:31815585-31815585 11:31794037-31794037
26 PAX6 NM_000280.4(PAX6):c.140A>G (p.Gln47Arg) SNV Pathogenic 430978 rs1131692289 11:31824253-31824253 11:31802705-31802705
27 PAX6 NM_000280.4(PAX6):c.467G>A (p.Trp156Ter) SNV Pathogenic 430996 rs1131692306 11:31822295-31822295 11:31800747-31800747
28 PAX6 NM_001310160.1(PAX6):c.-8del Deletion Pathogenic 430993 rs1131692303 11:31822361-31822361 11:31800813-31800813
29 PAX6 NM_001310160.1(PAX6):c.-657_-656delinsC Indel Pathogenic 430975 rs1131692287 11:31824267-31824268 11:31802719-31802720
30 PAX6 NM_000280.4(PAX6):c.781C>T (p.Arg261Ter) SNV Pathogenic 279862 rs886041222 11:31815335-31815335 11:31793787-31793787
31 PAX6 NM_000280.4(PAX6):c.130C>T (p.Arg44Ter) SNV Pathogenic 430976 rs141873759 11:31824263-31824263 11:31802715-31802715
32 PAX6 NM_000280.4(PAX6):c.151G>A (p.Gly51Arg) SNV Pathogenic 430982 rs1131692293 11:31823315-31823315 11:31801767-31801767
33 PAX6 NM_000280.4(PAX6):c.403C>T (p.Gln135Ter) SNV Pathogenic 430994 rs1131692304 11:31822359-31822359 11:31800811-31800811
34 PAX6 NM_000280.4(PAX6):c.661C>T (p.Gln221Ter) SNV Pathogenic 430999 rs1131692309 11:31816199-31816199 11:31794651-31794651
35 PAX6 NM_000280.4(PAX6):c.491del (p.Pro164fs) Deletion Pathogenic 430997 rs1131692307 11:31822271-31822271 11:31800723-31800723
36 PAX6 NM_000280.4(PAX6):c.792dup (p.Trp265fs) Duplication Pathogenic 431003 rs1131692313 11:31815323-31815324 11:31793775-31793776
37 PAX6 NM_000280.4(PAX6):c.-128-2del Deletion Pathogenic 430969 rs1131692282 11:31828475-31828475 11:31806927-31806927
38 PAX6 NM_000280.4(PAX6):c.244G>T (p.Glu82Ter) SNV Pathogenic 430985 rs1131692296 11:31823222-31823222 11:31801674-31801674
39 PAX6 NM_001310160.1(PAX6):c.-447_-442delinsGTTCA Indel Pathogenic 430988 rs1131692299 11:31823168-31823173 11:31801620-31801625
40 PAX6 NM_000280.4(PAX6):c.371del (p.Asn124fs) Deletion Pathogenic 279861 rs886041221 11:31822391-31822391 11:31800843-31800843
41 PAX6 NM_001310160.1(PAX6):c.-387del Deletion Pathogenic 430990 rs1131692301 11:31823113-31823113 11:31801565-31801565
42 PAX6 NM_000280.4(PAX6):c.133_141+4del Deletion Pathogenic 430977 rs1554985709 11:31824248-31824260 11:31802700-31802712
43 PAX6 NM_000280.4(PAX6):c.449_453delinsCCGGAAC (p.Asn150fs) Indel Pathogenic 430995 rs1131692305 11:31822309-31822313 11:31800761-31800765
44 PAX6 NM_000280.4(PAX6):c.1183+2T>C SNV Pathogenic 431009 rs1131692319 11:31812256-31812256 11:31790708-31790708
45 PAX6 NM_001310160.1(PAX6):c.-42_-36del Deletion Pathogenic 430992 rs1131692302 11:31822389-31822395 11:31800841-31800847
46 PAX6 NM_000280.4(PAX6):c.879del (p.Ser294fs) Deletion Pathogenic 431005 rs1131692315 11:31815237-31815237 11:31793689-31793689
47 PAX6 NM_000280.4(PAX6):c.1183G>T (p.Gly395Ter) SNV Pathogenic 431008 rs1131692318 11:31812258-31812258 11:31790710-31790710
48 PAX6 NM_000280.4(PAX6):c.1A>G (p.Met1Val) SNV Pathogenic 430971 rs1131692284 11:31827959-31827959 11:31806411-31806411
49 PAX6 NM_001310160.1(PAX6):c.-704del Deletion Pathogenic 430974 rs1131692286 11:31824315-31824315 11:31802767-31802767
50 PAX6 NM_000280.4(PAX6):c.184G>T (p.Glu62Ter) SNV Pathogenic 430984 rs1131692295 11:31823282-31823282 11:31801734-31801734

Expression for Isolated Aniridia

Search GEO for disease gene expression data for Isolated Aniridia.

Pathways for Isolated Aniridia

Pathways related to Isolated Aniridia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.28 PAX6 FOXC1 ELP4

GO Terms for Isolated Aniridia

Biological processes related to Isolated Aniridia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.62 WT1 TRIM44 PAX6 FOXC1
2 blood vessel development GO:0001568 9.4 PAX6 FOXC1
3 eye development GO:0001654 9.37 PAX6 FOXC1
4 ureteric bud development GO:0001657 9.26 WT1 FOXC1
5 positive regulation of core promoter binding GO:1904798 9.16 PAX6 FOXC1
6 lacrimal gland development GO:0032808 8.96 PAX6 FOXC1
7 camera-type eye development GO:0043010 8.8 WT1 PAX6 FOXC1

Molecular functions related to Isolated Aniridia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription regulatory region sequence-specific DNA binding GO:0000976 8.8 WT1 PAX6 FOXC1

Sources for Isolated Aniridia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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