MCID: ISL011
MIFTS: 18

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 lung cancer, 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 and colon.

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
1aniridia10.5
2lung cancer10.0
3gastric cancer10.0
4toxic shock syndrome10.0
5fasciitis10.0
6necrotizing fasciitis10.0
7frontofacionasal dysplasia10.0
8streptococcal toxic-shock syndrome10.0
9isolated x-linked adrenal hypoplasia congenita9.7PAX6, TRIM44

Graphical network of diseases related to Isolated Aniridia:



Diseases related to isolated aniridia

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

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
Decreased Langerhans Cell Responses to IL-36I^: Altered Innate Immunity in Patients with Recurrent Respiratory Papillomatosis. (24950037)
2014
2
Polymorphism in THBS1 gene is associated with post-refractive surgery chronic ocular surface inflammation. (24679443)
2014
3
Long-term prognosis of immediate hypersensitivity type of occupational laryngitis. (18760580)
2009
4
Insulin therapy in type 2 diabetes. (11727406)
2001
5
Characterization of the vitamin D receptor from the Caco-2 human colon carcinoma cell line: effect of cellular differentiation. (1654769)
1991

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