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
Nervous system disease
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Eye disease
   H01149  Ring dermoid of cornea
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
Related
pathway
hsa04350  TGF-beta signaling pathway
Gene
PITX2 [HSA:5308] [KO:K04686]
Other DBs
ICD-11: 2F36.Y
ICD-10: D31.1
MeSH: C535684
OMIM: 180550
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

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