KEGG   DISEASE: Keratoconus
Entry
H00789                      Disease                                
Name
Keratoconus
Description
Keratoconus (KTCN) is a frequent corneal ectasia characterized by localized corneal thinning and protrusion. Its exact cause is still unknown and is probably multifactorial.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 09 Diseases of the visual system
  Disorders of the eyeball anterior segment
   Disorders of the cornea
    9A78  Certain specified disorders of cornea
     H00789  Keratoconus
Pathway-based classification of diseases [BR:br08402]
 Cellular process
  nt06515  Regulation of kinetochore-microtubule interactions
   H00789  Keratoconus
  nt06541  Cytoskeleton in neurons
   H00789  Keratoconus
Network
nt06515 Regulation of kinetochore-microtubule interactions
nt06541 Cytoskeleton in neurons
Gene
(KTCN1) VSX1 [HSA:30813] [KO:K09335]
(KTCN9) TUBA3D [HSA:113457] [KO:K07374]
Drug
Riboflavin 5'-phosphate sodium [DR:D05725]
Comment
Keratoconus can also be found in sydromic conditions such as Down syndrome, mitral valve prolapse [DS:H00661], Marfan syndrome [DS:H00653], and Ehlers-Danlos syndrome [DS:H00802].
Other DBs
ICD-11: 9A78.50
MeSH: D007640
OMIM: 148300 617928
Reference
PMID:11778802
  Authors
Edwards M, McGhee CN, Dean S
  Title
The genetics of keratoconus.
  Journal
Clin Experiment Ophthalmol 29:345-51 (2001)
DOI:10.1046/j.1442-9071.2001.d01-16.x
Reference
PMID:20537579
  Authors
Romero-Jimenez M, Santodomingo-Rubido J, Wolffsohn JS
  Title
Keratoconus: a review.
  Journal
Cont Lens Anterior Eye 33:157-66; quiz 205 (2010)
DOI:10.1016/j.clae.2010.04.006
Reference
PMID:11978762 (VSX1)
  Authors
Heon E, Greenberg A, Kopp KK, Rootman D, Vincent AL, Billingsley G, Priston M, Dorval KM, Chow RL, McInnes RR, Heathcote G, Westall C, Sutphin JE, Semina E, Bremner R, Stone EM
  Title
VSX1: a gene for posterior polymorphous dystrophy and keratoconus.
  Journal
Hum Mol Genet 11:1029-36 (2002)
DOI:10.1093/hmg/11.9.1029
Reference
PMID:29051577 (TUBA3D)
  Authors
Hao XD, Chen P, Zhang YY, Li SX, Shi WY, Gao H
  Title
De novo mutations of TUBA3D are associated with keratoconus.
  Journal
Sci Rep 7:13570 (2017)
DOI:10.1038/s41598-017-13162-0
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