GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version
Congenital Glaucoma  
Disease Aliases (24)

Axenfeld's anomaly

Buphthalmos

Buphthalmia

Buphthalmus

Glaucoma, congenital

Glaucoma, primary open angle, adult-onset

Glaucoma, primary open angle, juvenile-onset

Glc3

Glc3a

Glaucoma of childhood

Glaucoma of newborn

Hydrophthalmos

Keratoglobus, congenital, with glaucoma

Macrocornea with glaucoma

Macrophthalmos in congenital glaucoma

Megalocornea with glaucoma

Primary congenital glaucoma 3a

Primary congenital glaucoma

Congenital glaucoma

Glaucoma 3, primary congenital, a

Glaucoma 3, primary congenital, a; glc3a

Glaucoma 3, primary congenital, type a

Simple buphthalmos

Von hippel anomaly

Associated Genes (4)
 

NCBI-RefSeq:  CYP1B1   (Cytochrome P450 family 1 subfamily B member 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  TEK   (TEK receptor tyrosine kinase)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  LTBP2   (Latent transforming growth factor beta binding protein 2)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  MYOC   (Myocilin)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Congenital glaucoma OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations