MCID: ISL011
MIFTS: 15

Isolated Aniridia malady

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

Aliases & Classifications for Isolated Aniridia

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Sources:
20GeneTests, 47Orphanet, 26ICD10 via Orphanet
See all sources

Isolated Aniridia, Aliases & Descriptions:

Name: Isolated Aniridia 20 47


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Fetal diseases, Rare diseases
Anatomical: Eye diseases


Characteristics (Orphanet epidemiological data):

47
isolated aniridia:
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood


External Ids:

Orphanet47 250923
ICD10 via Orphanet26 Q13.1

Summaries for Isolated Aniridia

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MalaCards based summary: Isolated Aniridia is related to aniridia, and has symptoms including visual impairment, nystagmus and abnormality of the macula. 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
1aniridia10.5

Symptoms for Isolated Aniridia

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Symptoms:

 47 (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

HPO human phenotypes related to Isolated Aniridia:

(show all 7)
id Description Frequency HPO Source Accession
1 visual impairment hallmark (90%) HP:0000505
2 nystagmus hallmark (90%) HP:0000639
3 abnormality of the macula hallmark (90%) HP:0001103
4 aplasia/hypoplasia of the iris hallmark (90%) HP:0008053
5 glaucoma typical (50%) HP:0000501
6 cataract typical (50%) HP:0000518
7 opacification of the corneal stroma typical (50%) HP:0007759

Drugs & Therapeutics for Isolated Aniridia

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Drug clinical trials:

Search ClinicalTrials for Isolated Aniridia

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 Aniridia20 PAX6

Anatomical Context for Isolated Aniridia

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MalaCards organs/tissues related to Isolated Aniridia:

31
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:

6 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1PAX6PAX6, 2-BP INSinsertionPathogenic
2PAX6PAX6, EXON G DELdeletionPathogenic
3PAX6NM_000280.4(PAX6): c.406C> T (p.Gln136Ter)single nucleotide variantPathogenicrs121907912GRCh37Chr 11, 31822356: 31822356
4PAX6NM_000280.4(PAX6): c.76C> G (p.Arg26Gly)single nucleotide variantPathogenicrs121907913GRCh37Chr 11, 31824317: 31824317
5PAX6NM_000280.4(PAX6): c.307C> T (p.Arg103Ter)single nucleotide variantPathogenicrs121907914GRCh37Chr 11, 31823159: 31823159
6PAX6PAX6, IVS12DS, G-C, -1single nucleotide variantPathogenic
7PAX6NM_000280.4(PAX6): c.607C> T (p.Arg203Ter)single nucleotide variantPathogenicrs121907916GRCh37Chr 11, 31816253: 31816253
8PAX6NM_000280.4(PAX6): c.718C> T (p.Arg240Ter)single nucleotide variantPathogenicrs121907917GRCh37Chr 11, 31815627: 31815627
9PAX6PAX6, IVS11AS, A-G, -2single nucleotide variantPathogenic
10PAX6NM_000280.4(PAX6): c.1268A> T (p.Ter423Leu)single nucleotide variantPathogenicrs121907922GRCh37Chr 11, 31811483: 31811483
11PAX6NM_000280.4(PAX6): c.725G> C (p.Arg242Thr)single nucleotide variantPathogenicrs121907927GRCh37Chr 11, 31815620: 31815620
12PAX6NM_000280.4(PAX6): c.357C> A (p.Ser119Arg)single nucleotide variantPathogenicrs121907928GRCh37Chr 11, 31823109: 31823109
13PAX6NM_000280.4(PAX6): c.112C> T (p.Arg38Trp)single nucleotide variantPathogenicrs397514640GRCh37Chr 11, 31824281: 31824281

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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Compounds for genes affiliated with Isolated Aniridia

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GO Terms for genes affiliated with Isolated Aniridia

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Products for genes affiliated with Isolated Aniridia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Isolated Aniridia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet