MCID: ISL011
MIFTS: 19

Isolated Aniridia malady

Categories: Genetic diseases, Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Isolated Aniridia

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

Aliases & Descriptions for Isolated Aniridia:

Name: Isolated Aniridia 22 51

Characteristics:

Orphanet epidemiological data:

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

Classifications:



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, colon and lung.

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
1aniridia10.7
2isolated x-linked adrenal hypoplasia congenita9.5PAX6, TRIM44

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, Colon, Lung

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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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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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