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 [BR:br08402]
 Nervous system diseases
  Eye disease
   H00789  Keratoconus
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
Network
nt06515 Regulation of kinetochore-microtubule interactions
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
ICD-10: H19.8 Q87.8
MeSH: D007640
OMIM: 148300 617928
Reference
  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
  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
LinkDB

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KEGG   DISEASE: Brittle cornea syndrome
Entry
H01902                      Disease                                
Name
Brittle cornea syndrome
  Supergrp
Ehlers-Danlos syndrome [DS:H00802]
Description
Brittle cornea syndrome (BCS) is a rare autosomal recessive generalized connective tissue disorder. It is characterized by extreme thinning and fragility of the cornea that may rupture in the absence of significant trauma leading to blindness. Keratoconus or keratoglobus, high myopia, blue sclerae, hyperelasticity of the skin, and hypermobility of the small joints are additional features of BCS. Mutations in transcription factors ZNF469 and PRDM5 cause BCS. Both transcription factors are suggested to act on a common pathway regulating extracellular matrix genes, particularly fibrillar collagens.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of skin
   H01902  Brittle cornea syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD28  Syndromes with connective tissue involvement as a major feature
    H01902  Brittle cornea syndrome
Gene
(BCS1) ZNF469 [HSA:84627]
(BCS2) PRDM5 [HSA:11107] [KO:K22534]
Comment
Formerly, BCS1 was called Ehlers-Danlos syndrome type VIB.
See also H00802 Ehlers-Danlos syndrome (EDS).
Other DBs
ICD-11: LD28.1Y
ICD-10: Q79.6
MeSH: C536192
OMIM: 229200 614170
Reference
  Authors
Rohrbach M, Spencer HL, Porter LF, Burkitt-Wright EM, Burer C, Janecke A, Bakshi M, Sillence D, Al-Hussain H, Baumgartner M, Steinmann B, Black GC, Manson FD, Giunta C
  Title
ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components.
  Journal
Mol Genet Metab 109:289-95 (2013)
DOI:10.1016/j.ymgme.2013.04.014
Reference
  Authors
Porter LF, Gallego-Pinazo R, Keeling CL, Kamieniorz M, Zoppi N, Colombi M, Giunta C, Bonshek R, Manson FD, Black GC
  Title
Bruch's membrane abnormalities in PRDM5-related brittle cornea syndrome.
  Journal
Orphanet J Rare Dis 10:145 (2015)
DOI:10.1186/s13023-015-0360-4
Reference
PMID:18452888 (ZNF469)
  Authors
Abu A, Frydman M, Marek D, Pras E, Nir U, Reznik-Wolf H, Pras E
  Title
Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome.
  Journal
Am J Hum Genet 82:1217-22 (2008)
DOI:10.1016/j.ajhg.2008.04.001
Reference
PMID:21664999 (PRDM5)
  Authors
Burkitt Wright EMM, Spencer HL, Daly SB, Manson FDC, Zeef LAH, Urquhart J, Zoppi N, Bonshek R, Tosounidis I, Mohan M, Madden C, Dodds A, Chandler KE, Banka S, Au L, Clayton-Smith J, Khan N, Biesecker LG, Wilson M, Rohrbach M, Colombi M, Giunta C, Black GCM
  Title
Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance.
  Journal
Am J Hum Genet 88:767-777 (2011)
DOI:10.1016/j.ajhg.2011.05.007
LinkDB

» Japanese version

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