Human Phenotype Ontology 
Grandparent Node:
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Abnormal eye morphology (HP:0012372)help
Grandparent Node:
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Neoplasm by anatomical site (HP:0011793)help
Parent Node:
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Hamartoma (HP:0010566)help
Parent Node:
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Hamartoma of the orbital region (HP:0030670)help
Parent Node:
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Neoplasm of the eye (HP:0100012)help
..Starting node
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Hamartoma of the eye (HP:0010568)help
Term ID: 10568
Name: Hamartoma of the eye
Synonym:
Definition: A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the eye.
Comments:
Reference: HP:0010568
Genes and Diseases:
 
       Child Nodes:
........expandRetinal hamartoma (HP:0009594) help
................... HP:0009711 Retinal capillary hemangioma
................... HP:0012778 Retinal astrocytic hamartoma
................... HP:0030508 Retinal cavernous hemangioma
................... HP:0030509 Retinal racemose hemangioma
................... HP:0030510 Combined hamartoma of the retinal pigment epithelium and retina
........expandLisch nodules (HP:0009737) help
........expandConjunctival hamartoma (HP:0100780) help

 Sister Nodes: 
..expandOrbital schwannoma (HP:0025604) help
..expandRetinal neoplasm (HP:0012777) help
..expandScleral schwannoma (HP:0100011) help
..expandUveal melanoma (HP:0007716) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010568HP:0010568Hamartoma of the eye0AKT1 CL E G H207391ORPHA:201Cowden syndrome54
HP:0010568HP:0010568Hamartoma of the eye0AKT1 CL E G H207391ORPHA:744Proteus syndrome54
HP:0010568HP:0010568Hamartoma of the eye0CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau disease1
HP:0010568HP:0010568Hamartoma of the eye0CCND1 CL E G H5951582OMIM:193300Von hippel-lindau syndrome1
HP:0010568HP:0010568Hamartoma of the eye0DLST CL E G H17432911ORPHA:29072Hereditary pheochromocytoma-paraganglioma
HP:0010568HP:0010568Hamartoma of the eye0FH CL E G H22713700ORPHA:29072Hereditary pheochromocytoma-paraganglioma301
HP:0010568HP:0010568Hamartoma of the eye0IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complex23
HP:0010568HP:0010568Hamartoma of the eye0IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-223
HP:0010568HP:0010568Hamartoma of the eye0KIF1B CL E G H2309516636ORPHA:29072Hereditary pheochromocytoma-paraganglioma202
HP:0010568HP:0010568Hamartoma of the eye0KLLN CL E G H10014474837212ORPHA:201Cowden syndrome1
HP:0010568HP:0010568Hamartoma of the eye0KRT1 CL E G H38486412ORPHA:312Autosomal dominant epidermolytic ichthyosis100
HP:0010568HP:0010568Hamartoma of the eye0KRT10 CL E G H38586413ORPHA:312Autosomal dominant epidermolytic ichthyosis45
HP:0010568HP:0010568Hamartoma of the eye0MAX CL E G H41496913ORPHA:29072Hereditary pheochromocytoma-paraganglioma84
HP:0010568HP:0010568Hamartoma of the eye0MDH2 CL E G H41916971ORPHA:29072Hereditary pheochromocytoma-paraganglioma4
HP:0010568HP:0010568Hamartoma of the eye0MSH6 CL E G H29567329OMIM:619097MISMATCH REPAIR CANCER SYNDROME 3; MMRCS32232
HP:0010568HP:0010568Hamartoma of the eye0NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndrome1952
HP:0010568HP:0010568Hamartoma of the eye0NF1 CL E G H47637765ORPHA:29072Hereditary pheochromocytoma-paraganglioma1952
HP:0010568HP:0010568Hamartoma of the eye0NF1 CL E G H47637765ORPHA:363700Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion1952
HP:0010568HP:0010568Hamartoma of the eye0NF1 CL E G H47637765OMIM:162210Neurofibromatosis, familial spinal1952
HP:0010568HP:0010568Hamartoma of the eye0NF1 CL E G H47637765OMIM:162200Neurofibromatosis, type I1952
HP:0010568HP:0010568Hamartoma of the eye0NF1 CL E G H47637765OMIM:601321Neurofibromatosis-Noonan syndrome1952
HP:0010568HP:0010568Hamartoma of the eye0NF2 CL E G H47717773ORPHA:637Neurofibromatosis type 2220
HP:0010568HP:0010568Hamartoma of the eye0NF2 CL E G H47717773OMIM:101000Neurofibromatosis, type II220
HP:0010568HP:0010568Hamartoma of the eye0PIK3CA CL E G H52908975ORPHA:201Cowden syndrome162
HP:0010568HP:0010568Hamartoma of the eye0PTEN CL E G H57289588ORPHA:201Cowden syndrome948
HP:0010568HP:0010568Hamartoma of the eye0PTEN CL E G H57289588ORPHA:744Proteus syndrome948
HP:0010568HP:0010568Hamartoma of the eye0RET CL E G H59799967ORPHA:29072Hereditary pheochromocytoma-paraganglioma572
HP:0010568HP:0010568Hamartoma of the eye0SDHA CL E G H638910680ORPHA:29072Hereditary pheochromocytoma-paraganglioma304
HP:0010568HP:0010568Hamartoma of the eye0SDHAF2 CL E G H5494926034ORPHA:29072Hereditary pheochromocytoma-paraganglioma55
HP:0010568HP:0010568Hamartoma of the eye0SDHB CL E G H639010681ORPHA:201Cowden syndrome237
HP:0010568HP:0010568Hamartoma of the eye0SDHB CL E G H639010681ORPHA:29072Hereditary pheochromocytoma-paraganglioma237
HP:0010568HP:0010568Hamartoma of the eye0SDHC CL E G H639110682ORPHA:201Cowden syndrome147
HP:0010568HP:0010568Hamartoma of the eye0SDHC CL E G H639110682ORPHA:29072Hereditary pheochromocytoma-paraganglioma147
HP:0010568HP:0010568Hamartoma of the eye0SDHD CL E G H639210683ORPHA:201Cowden syndrome129
HP:0010568HP:0010568Hamartoma of the eye0SDHD CL E G H639210683ORPHA:29072Hereditary pheochromocytoma-paraganglioma129
HP:0010568HP:0010568Hamartoma of the eye0SEC23B CL E G H1048310702ORPHA:201Cowden syndrome60
HP:0010568HP:0010568Hamartoma of the eye0SLC25A11 CL E G H840210981ORPHA:29072Hereditary pheochromocytoma-paraganglioma
HP:0010568HP:0010568Hamartoma of the eye0TMEM127 CL E G H5565426038ORPHA:29072Hereditary pheochromocytoma-paraganglioma131
HP:0010568HP:0010568Hamartoma of the eye0TSC1 CL E G H724812362ORPHA:538Lymphangioleiomyomatosis1090
HP:0010568HP:0010568Hamartoma of the eye0TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complex1090
HP:0010568HP:0010568Hamartoma of the eye0TSC2 CL E G H724912363ORPHA:538Lymphangioleiomyomatosis2738
HP:0010568HP:0010568Hamartoma of the eye0TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complex2738
HP:0010568HP:0010568Hamartoma of the eye0TSC2 CL E G H724912363OMIM:613254Tuberous sclerosis-22738
HP:0010568HP:0010568Hamartoma of the eye0USF3 CL E G H20571730494ORPHA:201Cowden syndrome1
HP:0010568HP:0010568Hamartoma of the eye0VHL CL E G H742812687ORPHA:29072Hereditary pheochromocytoma-paraganglioma490
HP:0010568HP:0010568Hamartoma of the eye0VHL CL E G H742812687ORPHA:892Von Hippel-Lindau disease490
HP:0010568HP:0010568Hamartoma of the eye0VHL CL E G H742812687OMIM:193300Von hippel-lindau syndrome490
HP:0010568HP:0100780Conjunctival hamartoma1AKT1 CL E G H207391ORPHA:201Cowden syndromeHP:0040281 - Very frequent54
HP:0010568HP:0009594Retinal hamartoma1AKT1 CL E G H207391ORPHA:744Proteus syndromeHP:0040283 - Occasional54
HP:0010568HP:0009594Retinal hamartoma1CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau disease1
HP:0010568HP:0009594Retinal hamartoma1CCND1 CL E G H5951582OMIM:193300Von hippel-lindau syndrome1
HP:0010568HP:0009594Retinal hamartoma1DLST CL E G H17432911ORPHA:29072Hereditary pheochromocytoma-paraganglioma
HP:0010568HP:0009594Retinal hamartoma1FH CL E G H22713700ORPHA:29072Hereditary pheochromocytoma-paraganglioma301
HP:0010568HP:0009594Retinal hamartoma1IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent23
HP:0010568HP:0009594Retinal hamartoma1IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-223
HP:0010568HP:0009594Retinal hamartoma1KIF1B CL E G H2309516636ORPHA:29072Hereditary pheochromocytoma-paraganglioma202
HP:0010568HP:0100780Conjunctival hamartoma1KLLN CL E G H10014474837212ORPHA:201Cowden syndromeHP:0040281 - Very frequent1
HP:0010568HP:0100780Conjunctival hamartoma1KRT1 CL E G H38486412ORPHA:312Autosomal dominant epidermolytic ichthyosisHP:0040283 - Occasional100
HP:0010568HP:0100780Conjunctival hamartoma1KRT10 CL E G H38586413ORPHA:312Autosomal dominant epidermolytic ichthyosisHP:0040283 - Occasional45
HP:0010568HP:0009594Retinal hamartoma1MAX CL E G H41496913ORPHA:29072Hereditary pheochromocytoma-paraganglioma84
HP:0010568HP:0009594Retinal hamartoma1MDH2 CL E G H41916971ORPHA:29072Hereditary pheochromocytoma-paraganglioma4
HP:0010568HP:0009737Lisch nodules1MSH6 CL E G H29567329OMIM:619097MISMATCH REPAIR CANCER SYNDROME 3; MMRCS32232
HP:0010568HP:0009737Lisch nodules1NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndromeHP:0040282 - Frequent1952
HP:0010568HP:0009594Retinal hamartoma1NF1 CL E G H47637765ORPHA:29072Hereditary pheochromocytoma-paraganglioma1952
HP:0010568HP:0009737Lisch nodules1NF1 CL E G H47637765ORPHA:363700Neurofibromatosis type 1 due to NF1 mutation or intragenic deletionHP:0040282 - Frequent1952
HP:0010568HP:0009737Lisch nodules1NF1 CL E G H47637765OMIM:162210Neurofibromatosis, familial spinal.1952
HP:0010568HP:0009737Lisch nodules1NF1 CL E G H47637765OMIM:162200Neurofibromatosis, type I1952
HP:0010568HP:0009737Lisch nodules1NF1 CL E G H47637765OMIM:601321Neurofibromatosis-Noonan syndrome1952
HP:0010568HP:0009594Retinal hamartoma1NF2 CL E G H47717773ORPHA:637Neurofibromatosis type 2HP:0040283 - Occasional220
HP:0010568HP:0009594Retinal hamartoma1NF2 CL E G H47717773OMIM:101000Neurofibromatosis, type II220
HP:0010568HP:0100780Conjunctival hamartoma1PIK3CA CL E G H52908975ORPHA:201Cowden syndromeHP:0040281 - Very frequent162
HP:0010568HP:0100780Conjunctival hamartoma1PTEN CL E G H57289588ORPHA:201Cowden syndromeHP:0040281 - Very frequent948
HP:0010568HP:0009594Retinal hamartoma1PTEN CL E G H57289588ORPHA:744Proteus syndromeHP:0040283 - Occasional948
HP:0010568HP:0009594Retinal hamartoma1RET CL E G H59799967ORPHA:29072Hereditary pheochromocytoma-paraganglioma572
HP:0010568HP:0009594Retinal hamartoma1SDHA CL E G H638910680ORPHA:29072Hereditary pheochromocytoma-paraganglioma304
HP:0010568HP:0009594Retinal hamartoma1SDHAF2 CL E G H5494926034ORPHA:29072Hereditary pheochromocytoma-paraganglioma55
HP:0010568HP:0100780Conjunctival hamartoma1SDHB CL E G H639010681ORPHA:201Cowden syndromeHP:0040281 - Very frequent237
HP:0010568HP:0009594Retinal hamartoma1SDHB CL E G H639010681ORPHA:29072Hereditary pheochromocytoma-paraganglioma237
HP:0010568HP:0100780Conjunctival hamartoma1SDHC CL E G H639110682ORPHA:201Cowden syndromeHP:0040281 - Very frequent147
HP:0010568HP:0009594Retinal hamartoma1SDHC CL E G H639110682ORPHA:29072Hereditary pheochromocytoma-paraganglioma147
HP:0010568HP:0100780Conjunctival hamartoma1SDHD CL E G H639210683ORPHA:201Cowden syndromeHP:0040281 - Very frequent129
HP:0010568HP:0009594Retinal hamartoma1SDHD CL E G H639210683ORPHA:29072Hereditary pheochromocytoma-paraganglioma129
HP:0010568HP:0100780Conjunctival hamartoma1SEC23B CL E G H1048310702ORPHA:201Cowden syndromeHP:0040281 - Very frequent60
HP:0010568HP:0009594Retinal hamartoma1SLC25A11 CL E G H840210981ORPHA:29072Hereditary pheochromocytoma-paraganglioma
HP:0010568HP:0009594Retinal hamartoma1TMEM127 CL E G H5565426038ORPHA:29072Hereditary pheochromocytoma-paraganglioma131
HP:0010568HP:0009594Retinal hamartoma1TSC1 CL E G H724812362ORPHA:538LymphangioleiomyomatosisHP:0040283 - Occasional1090
HP:0010568HP:0009594Retinal hamartoma1TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent1090
HP:0010568HP:0009594Retinal hamartoma1TSC2 CL E G H724912363ORPHA:538LymphangioleiomyomatosisHP:0040283 - Occasional2738
HP:0010568HP:0009594Retinal hamartoma1TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent2738
HP:0010568HP:0009594Retinal hamartoma1TSC2 CL E G H724912363OMIM:613254Tuberous sclerosis-22738
HP:0010568HP:0100780Conjunctival hamartoma1USF3 CL E G H20571730494ORPHA:201Cowden syndromeHP:0040281 - Very frequent1
HP:0010568HP:0009594Retinal hamartoma1VHL CL E G H742812687ORPHA:29072Hereditary pheochromocytoma-paraganglioma490
HP:0010568HP:0009594Retinal hamartoma1VHL CL E G H742812687ORPHA:892Von Hippel-Lindau disease490
HP:0010568HP:0009594Retinal hamartoma1VHL CL E G H742812687OMIM:193300Von hippel-lindau syndrome490
HP:0010568HP:0030508Retinal cavernous hemangioma2 CL E G H
HP:0010568HP:0030510Combined hamartoma of the retinal pigment epithelium and retina2 CL E G H
HP:0010568HP:0030509Retinal racemose hemangioma2 CL E G H
HP:0010568HP:0009711Retinal capillary hemangioma2CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau diseaseHP:0040282 - Frequent1
HP:0010568HP:0009711Retinal capillary hemangioma2CCND1 CL E G H5951582OMIM:193300Von hippel-lindau syndrome.1
HP:0010568HP:0009711Retinal capillary hemangioma2DLST CL E G H17432911ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional
HP:0010568HP:0009711Retinal capillary hemangioma2FH CL E G H22713700ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional301
HP:0010568HP:0012778Retinal astrocytic hamartoma2IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complexHP:0040284 - Very rare23
HP:0010568HP:0009711Retinal capillary hemangioma2KIF1B CL E G H2309516636ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional202
HP:0010568HP:0009711Retinal capillary hemangioma2MAX CL E G H41496913ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional84
HP:0010568HP:0009711Retinal capillary hemangioma2MDH2 CL E G H41916971ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional4
HP:0010568HP:0009711Retinal capillary hemangioma2NF1 CL E G H47637765ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional1952
HP:0010568HP:0009711Retinal capillary hemangioma2RET CL E G H59799967ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional572
HP:0010568HP:0009711Retinal capillary hemangioma2SDHA CL E G H638910680ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional304
HP:0010568HP:0009711Retinal capillary hemangioma2SDHAF2 CL E G H5494926034ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional55
HP:0010568HP:0009711Retinal capillary hemangioma2SDHB CL E G H639010681ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional237
HP:0010568HP:0009711Retinal capillary hemangioma2SDHC CL E G H639110682ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional147
HP:0010568HP:0009711Retinal capillary hemangioma2SDHD CL E G H639210683ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional129
HP:0010568HP:0009711Retinal capillary hemangioma2SLC25A11 CL E G H840210981ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional
HP:0010568HP:0009711Retinal capillary hemangioma2TMEM127 CL E G H5565426038ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional131
HP:0010568HP:0012778Retinal astrocytic hamartoma2TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complexHP:0040284 - Very rare1090
HP:0010568HP:0012778Retinal astrocytic hamartoma2TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complexHP:0040284 - Very rare2738
HP:0010568HP:0009711Retinal capillary hemangioma2VHL CL E G H742812687ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional490
HP:0010568HP:0009711Retinal capillary hemangioma2VHL CL E G H742812687ORPHA:892Von Hippel-Lindau diseaseHP:0040282 - Frequent490
HP:0010568HP:0009711Retinal capillary hemangioma2VHL CL E G H742812687OMIM:193300Von hippel-lindau syndrome.490


Genes (29) :AKT1 CCND1 DLST FH IFNG KIF1B KLLN KRT1 KRT10 MAX MDH2 MSH6 NF1 NF2 PIK3CA PTEN RET SDHA SDHAF2 SDHB SDHC SDHD SEC23B SLC25A11 TMEM127 TSC1 TSC2 USF3 VHL

Diseases (17) :ORPHA:201 ORPHA:744 ORPHA:892 OMIM:193300 ORPHA:29072 ORPHA:805 OMIM:613254 ORPHA:312 OMIM:619097 ORPHA:97685 ORPHA:363700 OMIM:162210 OMIM:162200 OMIM:601321 ORPHA:637 OMIM:101000 ORPHA:538
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.