KEGG DISEASE: Anterior segment dysgenesis

KEGG

DISEASE: Anterior segment dysgenesis

Entry

H01159                      Disease

Name

Anterior segment dysgenesis

Subgroup

Peters anomaly [DS:H01075]
Axenfeld-Rieger syndrome [DS:H00620]
Aniridia [DS:H00635]

Description

Anterior segment dysgenesis (ASGD) is a range of developmental defects in structures at the front of the eye. These defects are thought to result from abnormal migration or differentiation of the neural-crest derived mesenchymal cells that give rise to the cornea, iris, and other components of the anterior chamber during eye development. Human ASGD phenotypes are genetically heterogeneous resulting from mutations in different transcription factor genes and a cytochrome enzyme gene. ASGD is sometimes divided into subtypes including aniridia, Axenfeld and Rieger anomalies, iridogoniodysgenesis, Peters anomaly, and posterior embryotoxon.

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
     H01159  Anterior segment dysgenesis

Gene

(ASGD1) PITX3 [HSA:5309] [KO:K09357]
(ASGD2) FOXE3 [HSA:2301] [KO:K09398]
(ASGD3) FOXC1 [HSA:2296] [KO:K09396]
(ASGD4) PITX2 [HSA:5308] [KO:K04686]
(ASGD5) PAX6 [HSA:5080] [KO:K08031]
(ASGD6) CYP1B1 [HSA:1545] [KO:K07410]
(ASGD7) PXDN [HSA:7837] [KO:K19511]
(ASGD8) CPAMD8 [HSA:27151] [KO:K27774]

Other DBs

ICD-11:

MeSH:

OMIM:

107250 610256 601631 137600 604229 617315 269400 617319

Reference

PMID:18989383 (ASGD1)

Authors

Summers KM, Withers SJ, Gole GA, Piras S, Taylor PJ

Title

Anterior segment mesenchymal dysgenesis in a large Australian family is associated with the recurrent 17 bp duplication in PITX3.

Journal

Mol Vis 14:2010-5 (2008)

Reference

PMID:11159941 (ASGD2)

Authors

Semina EV, Brownell I, Mintz-Hittner HA, Murray JC, Jamrich M

Title

Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts.

Journal

Hum Mol Genet 10:231-6 (2001)
DOI:10.1093/hmg/10.3.231

Reference

PMID:9620769 (ASGD3)

Authors

Nishimura DY, Swiderski RE, Alward WL, Searby CC, Patil SR, Bennet SR, Kanis AB, Gastier JM, Stone EM, Sheffield VC

Title

The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25.

Journal

Nat Genet 19:140-7 (1998)
DOI:10.1038/493

Reference

PMID:9437321 (ASGD4)

Authors

Alward WL, Semina EV, Kalenak JW, Heon E, Sheth BP, Stone EM, Murray JC

Title

Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene.

Journal

Am J Ophthalmol 125:98-100 (1998)
DOI:10.1016/s0002-9394(99)80242-6

Reference

PMID:8162071 (ASGD5)

Authors

Hanson IM, Fletcher JM, Jordan T, Brown A, Taylor D, Adams RJ, Punnett HH, van Heyningen V

Title

Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly.

Journal

Nat Genet 6:168-73 (1994)
DOI:10.1038/ng0294-168

Reference

PMID:11403040 (ASGD6)

Authors

Vincent A, Billingsley G, Priston M, Williams-Lyn D, Sutherland J, Glaser T, Oliver E, Walter MA, Heathcote G, Levin A, Heon E

Title

Phenotypic heterogeneity of CYP1B1: mutations in a patient with Peters' anomaly.

Journal

J Med Genet 38:324-6 (2001)
DOI:10.1136/jmg.38.5.324

Reference

PMID:24939590 (ASGD7)

Authors

Choi A, Lao R, Ling-Fung Tang P, Wan E, Mayer W, Bardakjian T, Shaw GM, Kwok PY, Schneider A, Slavotinek A

Title

Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis.

Journal

Eur J Hum Genet 23:337-41 (2015)
DOI:10.1038/ejhg.2014.119

Reference

PMID:27839872 (ASGD8)

Authors

Cheong SS, Hentschel L, Davidson AE, Gerrelli D, Davie R, Rizzo R, Pontikos N, Plagnol V, Moore AT, Sowden JC, Michaelides M, Snead M, Tuft SJ, Hardcastle AJ

Title

Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis.

Journal

Am J Hum Genet 99:1338-1352 (2016)
DOI:10.1016/j.ajhg.2016.09.022

LinkDB

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