KEGG   DISEASE: Primary congenital glaucomaHelp
H01203                      Disease                                

Primary congenital glaucoma;
Glaucoma 3
Primary congenital glaucoma (PCG) is a severe form of glaucoma that presents early in life. PCG results from developmental abnormalities that affect the aqueous humor outflow pathway. PCG clinical features include elevated IOP, corneal edema, enlargement of the globe (buphthalmos), corneal enlargement, rupture of Descemet's membrane, and optic nerve damage. Two genes have been reported to cause PCG, CYP1B1 and LTBP2. Both genes cause a recessive form of this disease.
Congenital malformation
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of eye
   H01203  Primary congenital glaucoma
Human diseases in ICD-11 classification [BR:br08403]
 09 Diseases of the visual system
  Glaucoma or glaucoma suspect
   9C61  Glaucoma
    H01203  Primary congenital glaucoma
BRITE hierarchy
hsa00140  Steroid hormone biosynthesis
hsa00380  Tryptophan metabolism
hsa00980  Metabolism of xenobiotics by cytochrome P450
(GLC3A) CYP1B1 [HSA:1545] [KO:K07410]
(GLC3D) LTBP2 [HSA:4053] [KO:K08023]
Other DBs
ICD-11: 9C61.40
ICD-10: Q15.0
MeSH: C565547 C536824 C567765
OMIM: 231300 613086
Abu-Amero KK, Osman EA, Mousa A, Wheeler J, Whigham B, Allingham RR, Hauser MA, Al-Obeidan SA
Screening of CYP1B1 and LTBP2 genes in Saudi families with primary congenital glaucoma: genotype-phenotype correlation.
Mol Vis 17:2911-9 (2011)
Azmanov DN, Dimitrova S, Florez L, Cherninkova S, Draganov D, Morar B, Saat R, Juan M, Arostegui JI, Ganguly S, Soodyall H, Chakrabarti S, Padh H, Lopez-Nevot MA, Chernodrinska V, Anguelov B, Majumder P, Angelova L, Kaneva R, Mackey DA, Tournev I, Kalaydjieva L
LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population.
Eur J Hum Genet 19:326-33 (2011)
Sharaawy T, Bhartiya S
Surgical management of glaucoma: evolving paradigms.
Indian J Ophthalmol 59 Suppl:S123-30 (2011)
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