KEGG DISEASE: Primary congenital glaucoma

KEGG

DISEASE: Primary congenital glaucoma

Entry

H01203                      Disease

Name

Primary congenital glaucoma;
Glaucoma 3

Description

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 intraocular pressure (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.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
09 Diseases of the visual system
  Glaucoma or glaucoma suspect
   9C61  Glaucoma
    H01203  Primary congenital glaucoma

Pathway

Steroid hormone biosynthesis

Tryptophan metabolism

Metabolism of xenobiotics by cytochrome P450

Gene

(GLC3A) CYP1B1 [HSA:1545] [KO:K07410]
(GLC3D) LTBP2 [HSA:4053] [KO:K08023]
(GLC3E) TEK [HSA:7010] [KO:K05121]

Other DBs

ICD-11:

ICD-10:

MeSH:

C565547 C536824 C567765

OMIM:

231300 613086 617272

Reference

Authors

Sharaawy T, Bhartiya S

Title

Surgical management of glaucoma: evolving paradigms.

Journal

Indian J Ophthalmol 59 Suppl:S123-30 (2011)
DOI:10.4103/0301-4738.73692

Reference

PMID:22128238 (CYP1B1 LTBP2)

Authors

Abu-Amero KK, Osman EA, Mousa A, Wheeler J, Whigham B, Allingham RR, Hauser MA, Al-Obeidan SA

Title

Screening of CYP1B1 and LTBP2 genes in Saudi families with primary congenital glaucoma: genotype-phenotype correlation.

Journal

Mol Vis 17:2911-9 (2011)

Reference

PMID:27270174 (TEK)

Authors

Souma T, Tompson SW, Thomson BR, Siggs OM, Kizhatil K, Yamaguchi S, Feng L, Limviphuvadh V, Whisenhunt KN, Maurer-Stroh S, Yanovitch TL, Kalaydjieva L, Azmanov DN, Finzi S, Mauri L, Javadiyan S, Souzeau E, Zhou T, Hewitt AW, Kloss B, Burdon KP, Mackey DA, Allen KF, Ruddle JB, Lim SH, Rozen S, Tran-Viet KN, Liu X, John S, Wiggs JL, Pasutto F, Craig JE, Jin J, Quaggin SE, Young TL

Title

Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity.

Journal

J Clin Invest 126:2575-87 (2016)
DOI:10.1172/JCI85830

LinkDB

» Japanese version

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