| Term ID: |
1084 |
| Name: |
Corneal arcus |
| Synonym: |
Anterior embryotoxon; Arcus juvenilis; Arcus lipoidis; Arcus senilis; Corneal annulus; Gerontoxon |
| Definition: |
A hazy, grayish-white ring about 2 mm in width located close to but separated from the limbus (the corneoscleral junction). Corneal arcus generally occurs bilaterally, and is related to lipid deposition in the cornea. Corneal arcus can occur in elderly persons as a part of the aging process but may be associated with hypercholesterolemia in people under the age of 50 years. |
| Comments: |
|
| Reference: |
HP:0001084 |
| Genes and Diseases: | |
Child Nodes: |
Sister Nodes: | | 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:0001084 | HP:0001084 | Corneal arcus | 0 | ABCG8 CL E G H | 64241 | 13887 | OMIM:210250 | Sitosterolemia 1 | | | | 76 | | | | HP:0001084 | HP:0001084 | Corneal arcus | 0 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:219150 | Cutis laxa, autosomal recessive, type IIIA | . | | | 89 | | | | HP:0001084 | HP:0001084 | Corneal arcus | 0 | APOA1 CL E G H | 335 | 600 | OMIM:618463 | HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2 | | | | 40 | | | | HP:0001084 | HP:0001084 | Corneal arcus | 0 | APOA2 CL E G H | 336 | 601 | OMIM:143890 | Hypercholesterolemia, familial, 1 | . | | | 9 | | | | HP:0001084 | HP:0001084 | Corneal arcus | 0 | APOB CL E G H | 338 | 603 | OMIM:144010 | Hypercholesterolemia, familial, 2 | . | | | 356 | | | | HP:0001084 | HP:0001084 | Corneal arcus | 0 | APOE CL E G H | 348 | 613 | ORPHA:412 | Dysbetalipoproteinemia | HP:0040282 - Frequent | | | 39 | | | | HP:0001084 | HP:0001084 | Corneal arcus | 0 | CHRDL1 CL E G H | 91851 | 29861 | OMIM:309300 | MEGALOCORNEA | | | | 9 | | | | HP:0001084 | HP:0001084 | Corneal arcus | 0 | EPHX2 CL E G H | 2053 | 3402 | OMIM:143890 | Hypercholesterolemia, familial, 1 | . | | | 1 | | | | HP:0001084 | HP:0001084 | Corneal arcus | 0 | GHR CL E G H | 2690 | 4263 | OMIM:143890 | Hypercholesterolemia, familial, 1 | . | | | 98 | | | | HP:0001084 | HP:0001084 | Corneal arcus | 0 | KERA CL E G H | 11081 | 6309 | OMIM:217300 | Cornea plana 2 | . | | | 8 | | | | HP:0001084 | HP:0001084 | Corneal arcus | 0 | LDLR CL E G H | 3949 | 6547 | OMIM:143890 | Hypercholesterolemia, familial, 1 | . | | | 2157 | | | | HP:0001084 | HP:0001084 | Corneal arcus | 0 | LIPC CL E G H | 3990 | 6619 | OMIM:614025 | HEPATIC LIPASE DEFICIENCY | | | | 35 | | | | HP:0001084 | HP:0001084 | Corneal arcus | 0 | PCSK9 CL E G H | 255738 | 20001 | OMIM:603776 | HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3 | | | | 178 | | | | HP:0001084 | HP:0001084 | Corneal arcus | 0 | PPP1R17 CL E G H | 10842 | 16973 | OMIM:143890 | Hypercholesterolemia, familial, 1 | . | | | 2 | | | | HP:0001084 | HP:0001084 | Corneal arcus | 0 | SLC29A3 CL E G H | 55315 | 23096 | ORPHA:168569 | H syndrome | HP:0040283 - Occasional | | | 68 | | | | HP:0001084 | HP:0001084 | Corneal arcus | 0 | SLC29A3 CL E G H | 55315 | 23096 | OMIM:602782 | Histiocytosis-lymphadenopathy plus syndrome | | | | 68 | | |
Genes (15) :ABCG8 ALDH18A1 APOA1 APOA2 APOB APOE CHRDL1 EPHX2 GHR KERA LDLR LIPC PCSK9 PPP1R17 SLC29A3
Diseases (12) :OMIM:210250 OMIM:219150 OMIM:618463 OMIM:143890 OMIM:144010 ORPHA:412 OMIM:309300 OMIM:217300 OMIM:614025 OMIM:603776 ORPHA:168569 OMIM:602782 |
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
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