MCID: ISL011
MIFTS: 19

Isolated Aniridia malady

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

Aliases & Classifications for Isolated Aniridia

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Sources:
22GeneTests, 51Orphanet, 28ICD10 via Orphanet
See all sources

Aliases & Descriptions for Isolated Aniridia:

Name: Isolated Aniridia 22 51


Classifications:



Characteristics (Orphanet epidemiological data):

51
isolated aniridia:
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood


External Ids:

Orphanet51 250923
ICD10 via Orphanet28 Q13.1

Summaries for Isolated Aniridia

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MalaCards based summary: Isolated Aniridia is related to aniridia and isolated x-linked adrenal hypoplasia congenita, and has symptoms including aniridia/iris hypoplasia, macular dystrophy/absence/hypoplasia of the macula and visual loss/blindness/amblyopia. An important gene associated with Isolated Aniridia is PAX6 (Paired Box 6). Affiliated tissues include eye.

Related Diseases for Isolated Aniridia

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

idRelated DiseaseScoreTop Affiliating Genes
1aniridia30.4ELP4, PAX6
2isolated x-linked adrenal hypoplasia congenita9.8ELP4, PAX6
3iron metabolism disease9.7ELP4, PAX6

Symptoms for Isolated Aniridia

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Symptoms:

 51 (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

Drugs & Therapeutics for Isolated Aniridia

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Characterization of WAGR Syndrome and Other Chromosome 11 Gene DeletionsCompletedNCT00758108

Search NIH Clinical Center for Isolated Aniridia

Genetic Tests for Isolated Aniridia

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Genetic tests related to Isolated Aniridia:

id Genetic test Affiliating Genes
1 Isolated Aniridia22 PAX6

Anatomical Context for Isolated Aniridia

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MalaCards organs/tissues related to Isolated Aniridia:

33
Eye

Animal Models for Isolated Aniridia or affiliated genes

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Publications for Isolated Aniridia

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Articles related to Isolated Aniridia:

idTitleAuthorsYear
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

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Clinvar genetic disease variations for Isolated Aniridia:

5 (show all 18)
id Gene Variation Type Significance SNP ID Assembly Location
1ELP4NM_019040.4(ELP4): c.1143+14176C> Asingle nucleotide variantPathogenicrs606231388GRCh38Chr 11, 31664397: 31664397
2PAX6NM_000280.4(PAX6): c.894_895insCAGTGTCTACCAACCA (p.Ile299Glnfs)insertionPathogenicrs797044627GRCh37Chr 11, 31815221: 31815222
3PAX6NM_000280.4(PAX6): c.1242_1243insATATG (p.Ser415Ilefs)insertionPathogenicrs797044642GRCh37Chr 11, 31811508: 31811509
4PAX6PAX6, 2-BP INSinsertionPathogenic
5PAX6PAX6, EXON G DELdeletionPathogenic
6PAX6NM_000280.4(PAX6): c.406C> T (p.Gln136Ter)single nucleotide variantPathogenicrs121907912GRCh37Chr 11, 31822356: 31822356
7PAX6NM_000280.4(PAX6): c.76C> G (p.Arg26Gly)single nucleotide variantPathogenicrs121907913GRCh37Chr 11, 31824317: 31824317
8PAX6NM_000280.4(PAX6): c.307C> T (p.Arg103Ter)single nucleotide variantPathogenicrs121907914GRCh37Chr 11, 31823159: 31823159
9PAX6PAX6, IVS12DS, G-C, -1single nucleotide variantPathogenic
10PAX6NM_000280.4(PAX6): c.607C> T (p.Arg203Ter)single nucleotide variantPathogenicrs121907916GRCh37Chr 11, 31816253: 31816253
11PAX6NM_000280.4(PAX6): c.718C> T (p.Arg240Ter)single nucleotide variantPathogenicrs121907917GRCh37Chr 11, 31815627: 31815627
12PAX6NM_001604.5(PAX6): c.1075-2A> Gsingle nucleotide variantPathogenicrs794726661GRCh38Chr 11, 31790862: 31790862
13PAX6NM_000280.4(PAX6): c.1268A> T (p.Ter423Leu)single nucleotide variantPathogenicrs121907922GRCh37Chr 11, 31811483: 31811483
14PAX6NM_000280.4(PAX6): c.725G> C (p.Arg242Thr)single nucleotide variantPathogenicrs121907927GRCh37Chr 11, 31815620: 31815620
15PAX6NM_000280.4(PAX6): c.357C> A (p.Ser119Arg)single nucleotide variantPathogenicrs121907928GRCh37Chr 11, 31823109: 31823109
16PAX6NM_000280.4(PAX6): c.112C> T (p.Arg38Trp)single nucleotide variantPathogenicrs397514640GRCh37Chr 11, 31824281: 31824281
17PAX6NM_000280.4(PAX6): c.357+1G> Asingle nucleotide variantPathogenicrs398123295GRCh37Chr 11, 31823108: 31823108
18PAX6NM_000280.4(PAX6): c.46delG (p.Val16Serfs)deletionPathogenicrs398123296GRCh37Chr 11, 31824347: 31824347

Expression for genes affiliated with Isolated Aniridia

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Search GEO for disease gene expression data for Isolated Aniridia.

Pathways for genes affiliated with Isolated Aniridia

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GO Terms for genes affiliated with Isolated Aniridia

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

idNameGO IDScoreTop Affiliating Genes
1regulation of transcription from RNA polymerase II promoterGO:00063579.1ELP4, PAX6

Sources for Isolated Aniridia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet