KEGG   DISEASE: Aniridia
Entry
H00635                      Disease                                
Name
Aniridia
  Supergrp
Anterior segment dysgenesis [DS:H01159]
Description
Aniridia is a congenital, bilateral ocular malformation defined as iris aplasia or hypoplasia. It can be either isolated or accompanied by other ocular defects. Aniridia is caused by decreased dosage of the PAX6, a master regulatory gene that induces eye formation in a broad range of animals. Recently, it has been reported that aniridia is also caused by heterozygous mutations in the ELP4 gene and TRIM44 gene.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the eye, eyelid or lacrimal apparatus
    LA11  Structural developmental anomalies of the anterior segment of eye
     H00635  Aniridia
Gene
(AN1) PAX6 [HSA:5080] [KO:K08031]
(AN2) ELP4 [HSA:26610] [KO:K11375]
(AN3) TRIM44 [HSA:54765] [KO:K12020]
Other DBs
ICD-11: LA11.3
MeSH: D015783
OMIM: 106210 617141 617142
Reference
PMID:20132240
  Authors
Kokotas H, Petersen MB
  Title
Clinical and molecular aspects of aniridia.
  Journal
Clin Genet 77:409-20 (2010)
DOI:10.1111/j.1399-0004.2010.01372.x
Reference
PMID:12386836 (AN1)
  Authors
Crolla JA, van Heyningen V
  Title
Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia.
  Journal
Am J Hum Genet 71:1138-49 (2002)
DOI:10.1086/344396
Reference
PMID:24290376 (AN2)
  Authors
Bhatia S, Bengani H, Fish M, Brown A, Divizia MT, de Marco R, Damante G, Grainger R, van Heyningen V, Kleinjan DA
  Title
Disruption of autoregulatory feedback by a mutation in a remote, ultraconserved PAX6 enhancer causes aniridia.
  Journal
Am J Hum Genet 93:1126-34 (2013)
DOI:10.1016/j.ajhg.2013.10.028
Reference
PMID:26394807 (AN3)
  Authors
Zhang X, Qin G, Chen G, Li T, Gao L, Huang L, Zhang Y, Ouyang K, Wang Y, Pang Y, Zeng B, Yu L
  Title
Variants in TRIM44 Cause Aniridia by Impairing PAX6 Expression.
  Journal
Hum Mutat 36:1164-7 (2015)
DOI:10.1002/humu.22907
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