KEGG DISEASE: Ring dermoid of cornea

KEGG

DISEASE: Ring dermoid of cornea

Entry

H01149                      Disease

Name

Ring dermoid of cornea

Description

The ring dermoid of the cornea (RDC) is an autosomal dominantly inherited syndrome characterised by bilateral annular limbal dermoids with corneal and conjunctival extension. A mutation in PITX2 has been identified in the individuals affected by the RDC. PITX2 encodes a homeodomain transcription factor required for normal development of multiple organs, including eye, heart, and pituitary.

Category

Neoplasm

Brite

Human diseases in ICD-11 classification [BR:br08403]
02 Neoplasms
  Benign neoplasms, except of lymphoid, haematopoietic, central nervous system or related tissues
   Benign non-mesenchymal neoplasms
    2F36  Benign neoplasm of eye or ocular adnexa
     H01149  Ring dermoid of cornea

Pathway

TGF-beta signaling pathway

Gene

PITX2 [HSA:5308] [KO:K04686]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Xia K, Wu L, Liu X, Xi X, Liang D, Zheng D, Cai F, Pan Q, Long Z, Dai H, Hu Z, Tang B, Zhang Z, Xia J

Title

Mutation in PITX2 is associated with ring dermoid of the cornea.

Journal

J Med Genet 41:e129 (2004)
DOI:10.1136/jmg.2004.022434

Reference

Authors

Doerdelmann T, Kojetin DJ, Baird-Titus JM, Solt LA, Burris TP, Rance M

Title

Structural and biophysical insights into the ligand-free Pitx2 homeodomain and a ring dermoid of the cornea inducing homeodomain mutant.

Journal

Biochemistry 51:665-76 (2012)
DOI:10.1021/bi201639x

LinkDB

» Japanese version

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