MCID: ISL011
MIFTS: 26

Isolated Aniridia

Categories: Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Isolated Aniridia

MalaCards integrated aliases for Isolated Aniridia:

Name: Isolated Aniridia 59

Characteristics:

Orphanet epidemiological data:

59
isolated aniridia
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood;

Classifications:



External Ids:

Orphanet 59 ORPHA250923
ICD10 via Orphanet 34 Q13.1
UMLS via Orphanet 74 C0003076

Summaries for Isolated Aniridia

MalaCards based summary : Isolated Aniridia is related to aniridia 1 and aniridia and absent patella. 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 related phenotypes are glaucoma and cataract

Related Diseases for Isolated Aniridia

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

(show all 11)
# Related Disease Score Top Affiliating Genes
1 aniridia 1 31.1 FOXC1 PAX6
2 aniridia and absent patella 11.0
3 aniridia 2 11.0
4 intestinal atresia 9.8 FOXC1 PAX6
5 iris disease 9.8 FOXC1 PAX6
6 persistent hyperplastic primary vitreous 9.8 FOXC1 PAX6
7 juvenile glaucoma 9.8 FOXC1 PAX6
8 glaucoma 3, primary congenital, a 9.7 FOXC1 PAX6
9 axenfeld-rieger syndrome 9.7 FOXC1 PAX6
10 anterior segment dysgenesis 9.5 FOXC1 PAX6
11 peters-plus syndrome 9.2 FOXC1 PAX6

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:

59 32 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 glaucoma 59 32 frequent (33%) Frequent (79-30%) HP:0000501
2 cataract 59 32 frequent (33%) Frequent (79-30%) HP:0000518
3 aniridia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000526
4 visual loss 59 32 hallmark (90%) Very frequent (99-80%) HP:0000572
5 nystagmus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000639
6 peters anomaly 59 32 frequent (33%) Frequent (79-30%) HP:0000659
7 aplasia/hypoplasia of the macula 59 32 hallmark (90%) Very frequent (99-80%) HP:0008059

Drugs & Therapeutics for Isolated Aniridia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Characterization of WAGR Syndrome and Other Chromosome 11 Gene Deletions Completed NCT00758108
2 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Isolated Aniridia

Genetic Tests for Isolated Aniridia

Anatomical Context for Isolated Aniridia

MalaCards organs/tissues related to Isolated Aniridia:

41
Eye

Publications for Isolated Aniridia

Articles related to Isolated Aniridia:

# Title Authors Year
1
A novel splice site mutation in the PAX6 gene in a Korean family with isolated aniridia. ( 25696017 )
2015
2
A novel heterozygous deletion within the 3' region of the PAX6 gene causing isolated aniridia in a large family group. ( 19793656 )
2009
3
Corneal laceration with total but isolated aniridia caused by a pecking injury. ( 11020631 )
2000
4
Translocation t(5;11)(q13.1;p13) associated with familial isolated aniridia. ( 2817003 )
1989
5
Familial isolated aniridia associated with a translocation involving chromosomes 11 and 22 [t(11;22)(p13;q12.2)]. ( 3754537 )
1986

Variations for Isolated Aniridia

ClinVar genetic disease variations for Isolated Aniridia:

6
(show top 50) (show all 196)
# Gene Variation Type Significance SNP ID Assembly Location
1 PAX6 NM_000280.4(PAX6): c.-129+9G> A single nucleotide variant Benign/Likely benign rs56139994 GRCh38 Chromosome 11, 31810819: 31810819
2 PAX6 NM_000280.4(PAX6): c.-129+9G> A single nucleotide variant Benign/Likely benign rs56139994 GRCh37 Chromosome 11, 31832367: 31832367
3 GLIS3 NM_001042413.1(GLIS3): c.2710G> C (p.Gly904Arg) single nucleotide variant Likely benign rs150310830 GRCh37 Chromosome 9, 3828355: 3828355
4 GLIS3 NM_001042413.1(GLIS3): c.2710G> C (p.Gly904Arg) single nucleotide variant Likely benign rs150310830 GRCh38 Chromosome 9, 3828355: 3828355
5 KIF21A NM_001173464.1(KIF21A): c.2287G> A (p.Val763Met) single nucleotide variant Likely benign rs869025264 GRCh37 Chromosome 12, 39733990: 39733990
6 KIF21A NM_001173464.1(KIF21A): c.2287G> A (p.Val763Met) single nucleotide variant Likely benign rs869025264 GRCh38 Chromosome 12, 39340188: 39340188
7 PAX6 NM_001604.5(PAX6): c.808-12C> T single nucleotide variant Benign rs667773 GRCh37 Chromosome 11, 31815362: 31815362
8 PAX6 NM_001604.5(PAX6): c.808-12C> T single nucleotide variant Benign rs667773 GRCh38 Chromosome 11, 31793814: 31793814
9 subset of 24 genes:ANK2 NC_000004.12: g.110853395_114363395del3510001 deletion Pathogenic NCBI36 Chromosome 4, 111994000: 115504000
10 subset of 24 genes:ANK2 NC_000004.12: g.110853395_114363395del3510001 deletion Pathogenic GRCh37 Chromosome 4, 111774551: 115284551
11 subset of 24 genes:ANK2 NC_000004.12: g.110853395_114363395del3510001 deletion Pathogenic GRCh38 Chromosome 4, 110853395: 114363395
12 FOXC1; GMDS NC_000006.10: g.1543591_1675085del131495 deletion Pathogenic NCBI36 Chromosome 6, 1543591: 1675085
13 FOXC1; GMDS NC_000006.10: g.1543591_1675085del131495 deletion Pathogenic GRCh37 Chromosome 6, 1598592: 1730086
14 ELP4; LOC105980003; LOC106007485; LOC106007493; LOC106014249; PAX6 NC_000011.10: g.31720147_31816290del96144 deletion Pathogenic NCBI36 Chromosome 11, 31698271: 31794414
15 ELP4; LOC105980003; LOC106007485; LOC106007493; LOC106014249; PAX6 NC_000011.10: g.31720147_31816290del96144 deletion Pathogenic GRCh37 Chromosome 11, 31741695: 31837838
16 ELP4; LOC105980003; LOC106007485; LOC106007493; LOC106014249; PAX6 NC_000011.10: g.31720147_31816290del96144 deletion Pathogenic GRCh38 Chromosome 11, 31720147: 31816290
17 DCDC1; DNAJC24; ELP4; IMMP1L NC_000011.8: g.30874642_31654833del780192 deletion Pathogenic NCBI36 Chromosome 11, 30874642: 31654833
18 DCDC1; DNAJC24; ELP4; IMMP1L NC_000011.8: g.30874642_31654833del780192 deletion Pathogenic GRCh37 Chromosome 11, 30918066: 31698257
19 DCDC1; DNAJC24; ELP4; IMMP1L NC_000011.8: g.30967000_31704000del737001 deletion Pathogenic NCBI36 Chromosome 11, 30967000: 31704000
20 DCDC1; DNAJC24; ELP4; IMMP1L NC_000011.8: g.30967000_31704000del737001 deletion Pathogenic GRCh37 Chromosome 11, 31010424: 31747424
21 DCDC1; DNAJC24; ELP4; IMMP1L NC_000011.8: g.31108579_31649842del541264 deletion Pathogenic NCBI36 Chromosome 11, 31108579: 31649842
22 DCDC1; DNAJC24; ELP4; IMMP1L NC_000011.8: g.31108579_31649842del541264 deletion Pathogenic GRCh37 Chromosome 11, 31152003: 31693266
23 DCDC1; DNAJC24; ELP4; IMMP1L; PAX6 NC_000011.8: g.31199000_31849000del650001 deletion Pathogenic NCBI36 Chromosome 11, 31199000: 31849000
24 DCDC1; DNAJC24; ELP4; IMMP1L; PAX6 NC_000011.8: g.31199000_31849000del650001 deletion Pathogenic GRCh37 Chromosome 11, 31242424: 31892424
25 DCDC1; DNAJC24; ELP4; IMMP1L; PAX6 NC_000011.8: g.31199000_31914000del715001 deletion Pathogenic NCBI36 Chromosome 11, 31199000: 31914000
26 DCDC1; DNAJC24; ELP4; IMMP1L; PAX6 NC_000011.8: g.31199000_31914000del715001 deletion Pathogenic GRCh37 Chromosome 11, 31242424: 31957424
27 DCDC1; DNAJC24; ELP4; IMMP1L NC_000011.8: g.31234395_31751815del517421 deletion Pathogenic NCBI36 Chromosome 11, 31234395: 31751815
28 DCDC1; DNAJC24; ELP4; IMMP1L NC_000011.8: g.31234395_31751815del517421 deletion Pathogenic GRCh37 Chromosome 11, 31277819: 31795239
29 DNAJC24; ELP4; IMMP1L NC_000011.8: g.31379000_31708000del329001 deletion Pathogenic NCBI36 Chromosome 11, 31379000: 31708000
30 DNAJC24; ELP4; IMMP1L NC_000011.8: g.31379000_31708000del329001 deletion Pathogenic GRCh37 Chromosome 11, 31422424: 31751424
31 PAX6 NC_000011.8: g.31779000_31933000del154001 deletion Pathogenic NCBI36 Chromosome 11, 31779000: 31933000
32 PAX6 NC_000011.8: g.31779000_31933000del154001 deletion Pathogenic GRCh37 Chromosome 11, 31822424: 31976424
33 PAX6 NM_000280.4(PAX6): c.1137A> C (p.Thr379=) single nucleotide variant Conflicting interpretations of pathogenicity rs143477661 GRCh37 Chromosome 11, 31812304: 31812304
34 PAX6 NM_000280.4(PAX6): c.1137A> C (p.Thr379=) single nucleotide variant Conflicting interpretations of pathogenicity rs143477661 GRCh38 Chromosome 11, 31790756: 31790756
35 PAX6 NM_000280.4(PAX6): c.*4627A> C single nucleotide variant Likely benign rs140971065 GRCh37 Chromosome 11, 31806855: 31806855
36 PAX6 NM_000280.4(PAX6): c.*4627A> C single nucleotide variant Likely benign rs140971065 GRCh38 Chromosome 11, 31785307: 31785307
37 PAX6 NM_000280.4(PAX6): c.*4076A> C single nucleotide variant Uncertain significance rs886048183 GRCh37 Chromosome 11, 31807406: 31807406
38 PAX6 NM_000280.4(PAX6): c.*4076A> C single nucleotide variant Uncertain significance rs886048183 GRCh38 Chromosome 11, 31785858: 31785858
39 PAX6 NM_000280.4(PAX6): c.*4003G> T single nucleotide variant Uncertain significance rs886048184 GRCh38 Chromosome 11, 31785931: 31785931
40 PAX6 NM_000280.4(PAX6): c.*4003G> T single nucleotide variant Uncertain significance rs886048184 GRCh37 Chromosome 11, 31807479: 31807479
41 PAX6 NM_000280.4(PAX6): c.*3318A> G single nucleotide variant Likely benign rs371438311 GRCh37 Chromosome 11, 31808164: 31808164
42 PAX6 NM_000280.4(PAX6): c.*3318A> G single nucleotide variant Likely benign rs371438311 GRCh38 Chromosome 11, 31786616: 31786616
43 PAX6 NM_000280.4(PAX6): c.*2901T> C single nucleotide variant Likely benign rs542906080 GRCh37 Chromosome 11, 31808581: 31808581
44 PAX6 NM_000280.4(PAX6): c.*2901T> C single nucleotide variant Likely benign rs542906080 GRCh38 Chromosome 11, 31787033: 31787033
45 PAX6 NM_000280.4(PAX6): c.*2705_*2707delAGC deletion Uncertain significance rs886048189 GRCh37 Chromosome 11, 31808775: 31808777
46 PAX6 NM_000280.4(PAX6): c.*2705_*2707delAGC deletion Uncertain significance rs886048189 GRCh38 Chromosome 11, 31787227: 31787229
47 PAX6 NM_000280.4(PAX6): c.*1521C> T single nucleotide variant Uncertain significance rs886048196 GRCh37 Chromosome 11, 31809961: 31809961
48 PAX6 NM_000280.4(PAX6): c.*1521C> T single nucleotide variant Uncertain significance rs886048196 GRCh38 Chromosome 11, 31788413: 31788413
49 PAX6 NM_000280.4(PAX6): c.*1394A> C single nucleotide variant Uncertain significance rs776894983 GRCh37 Chromosome 11, 31810088: 31810088
50 PAX6 NM_000280.4(PAX6): c.*1394A> C single nucleotide variant Uncertain significance rs776894983 GRCh38 Chromosome 11, 31788540: 31788540

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
11.1 FOXC1 PAX6

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 gene expression GO:0010628 9.43 FOXC1 PAX6
2 positive regulation of transcription, DNA-templated GO:0045893 9.43 FOXC1 PAX6 TRIM44
3 brain development GO:0007420 9.4 FOXC1 PAX6
4 regulation of gene expression GO:0010468 9.37 PAX6 TRIM44
5 camera-type eye development GO:0043010 9.32 FOXC1 PAX6
6 blood vessel development GO:0001568 9.16 FOXC1 PAX6
7 eye development GO:0001654 8.96 FOXC1 PAX6
8 lacrimal gland development GO:0032808 8.62 FOXC1 PAX6

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

# Name GO ID Score Top Affiliating Genes
1 transcription factor binding GO:0008134 9.16 FOXC1 PAX6
2 transcription regulatory region DNA binding GO:0044212 8.96 FOXC1 PAX6
3 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding GO:0001228 8.62 FOXC1 PAX6

Sources for Isolated Aniridia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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