Term ID: 1114
Name: Xanthelasma
Synonym: Fatty deposits in skin around the eyes; Fatty deposits on eyelids; Xanthelasma of eyelid; Xanthelasma of periocular region; Xanthelasma palpebrarum; Xanthoma; Xanthoma of eyelid; Xanthoma of periocular region
Definition: The presence of xanthomata in the skin of the eyelid.
Comments:
Reference: HP:0001114
Genes and Diseases: Child Nodes: Sister Nodes: ..Atheroeruptive xanthoma (HP:0001039) ..Eruptive xanthomas (HP:0001013) ..Tendon xanthomatosis (HP:0010874) ..Tuberous xanthoma (HP:0031290) ..Verruciform xanthoma (HP:0031517) ..Xanthomas of the palmar creases (HP:0025530) Input HPO ID HPO term Distance Gene Gene id entrez HGNC ID DiseaseId DiseaseName Frequency Onset HGMD variants ClinVar variants HP:0001114 HP:0001114 Xanthelasma 0 ABCA1 CL E G H 19 29 ORPHA:425 Apolipoprotein A-I deficiency 191 HP:0001114 HP:0001114 Xanthelasma 0 ABCG8 CL E G H 64241 13887 OMIM:210250 Sitosterolemia 1 76 HP:0001114 HP:0001114 Xanthelasma 0 APOA1 CL E G H 335 600 ORPHA:425 Apolipoprotein A-I deficiency 40 HP:0001114 HP:0001114 Xanthelasma 0 APOA2 CL E G H 336 601 OMIM:143890 Hypercholesterolemia, familial, 1 9 HP:0001114 HP:0001114 Xanthelasma 0 APOB CL E G H 338 603 OMIM:144010 Hypercholesterolemia, familial, 2 . 356 HP:0001114 HP:0001114 Xanthelasma 0 APOE CL E G H 348 613 ORPHA:412 Dysbetalipoproteinemia HP:0040282 - Frequent 39 HP:0001114 HP:0001114 Xanthelasma 0 CYP27A1 CL E G H 1593 2605 OMIM:213700 Cerebrotendinous xanthomatosis 114 HP:0001114 HP:0001114 Xanthelasma 0 EPHX2 CL E G H 2053 3402 OMIM:143890 Hypercholesterolemia, familial, 1 1 HP:0001114 HP:0001114 Xanthelasma 0 G6PC1 CL E G H 2538 4056 OMIM:232200 Glycogen storage disease ia . HP:0001114 HP:0001114 Xanthelasma 0 GHR CL E G H 2690 4263 OMIM:143890 Hypercholesterolemia, familial, 1 98 HP:0001114 HP:0001114 Xanthelasma 0 LDLR CL E G H 3949 6547 OMIM:143890 Hypercholesterolemia, familial, 1 2157 HP:0001114 HP:0001114 Xanthelasma 0 LPL CL E G H 4023 6677 OMIM:144250 Hyperlipidemia, familial combined, 3 HP:0040283 - Occasional 106 HP:0001114 HP:0001114 Xanthelasma 0 PCSK9 CL E G H 255738 20001 OMIM:603776 HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3 178 HP:0001114 HP:0001114 Xanthelasma 0 PPP1R17 CL E G H 10842 16973 OMIM:143890 Hypercholesterolemia, familial, 1 2 HP:0001114 HP:0001114 Xanthelasma 0 SLC37A4 CL E G H 2542 4061 ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0040283 - Occasional 110 HP:0001114 HP:0001114 Xanthelasma 0 SLC37A4 CL E G H 2542 4061 OMIM:232220 Glycogen storage disease ib . 110 HP:0001114 HP:0001114 Xanthelasma 0 SLC37A4 CL E G H 2542 4061 OMIM:232240 GLYCOGEN STORAGE DISEASE Ic . 110 HP:0001114 HP:0001114 Xanthelasma 0 SPRED1 CL E G H 161742 20249 ORPHA:137605 Legius syndrome 136 HP:0001114 HP:0001114 Xanthelasma 0 TTPA CL E G H 7274 12404 OMIM:277460 VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF . 62
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
