Term ID:
12038
Name:
Corneal guttata
Synonym:
Corneal endothelial guttata
Definition:
Corneal guttata are droplet-like accumulations of non-banded collagen on the posterior surface of Descemet's membrane. The presence of focal thickenings of Descemet's membrane histologically named guttae. Cornea guttata can be easily diagnosed in vivo and ex vivo by means of specular microscopy as it gives dark areas where no endothelial cells are visible.
Comments:
Reference:
HP:0012038
Genes and Diseases: Child Nodes: Sister Nodes: ..Descemet Membrane Folds (HP:0012039) ..Thinning of Descemet membrane (HP:0031159) Input HPO ID HPO term Distance Gene Gene id entrez HGNC ID DiseaseId DiseaseName Frequency Onset HGMD variants ClinVar variants HPO disease - gene - phenotype typical associations: HPO disease - gene - phenotype less frequent non-typical associations: HP:0012038 HP:0012038 Corneal guttata 0 AGBL1 CL E G H 123624 26504 OMIM:615523 Corneal dystrophy, fuchs endothelial, 8 3 HP:0012038 HP:0012038 Corneal guttata 0 COL8A2 CL E G H 1296 2216 OMIM:136800 Corneal dystrophy, fuchs endothelial, 1 . 3 HP:0012038 HP:0012038 Corneal guttata 0 KCNJ13 CL E G H 3769 6259 OMIM:193230 Snowflake vitreoretinal degeneration 42 HP:0012038 HP:0012038 Corneal guttata 0 SLC4A11 CL E G H 83959 16438 OMIM:613268 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4; FECD4 66 HP:0012038 HP:0012038 Corneal guttata 0 ZEB1 CL E G H 6935 11642 OMIM:613270 Corneal dystrophy, fuchs endothelial, 6 8 HP:0012038 HP:0012038 Corneal guttata 0 ZEB1 CL E G H 6935 11642 OMIM:609141 Corneal dystrophy, posterior polymorphous, 3 . 8
Genes (5) :AGBL1 COL8A2 KCNJ13 SLC4A11 ZEB1 Diseases (6) :OMIM:615523 OMIM:136800 OMIM:193230 OMIM:613268 OMIM:613270 OMIM:609141
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.