Human Phenotype Ontology 
Grandparent Node:
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Neoplasm (HP:0002664)help
Parent Node:
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Abnormal heart morphology (HP:0001627)help
Parent Node:
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Neoplasm by anatomical site (HP:0011793)help
..Starting node
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Neoplasm of the heart (HP:0100544)help
Term ID: 100544
Name: Neoplasm of the heart
Synonym: Cardiac neoplasia; Cardiac neoplasm; Heart tumor; Heart tumour
Definition: A tumor (abnormal growth of tissue) of the heart.
Comments:
Reference: HP:0100544
Genes and Diseases:
 
       Child Nodes:
........expandCardiac rhabdomyoma (HP:0009729) help
........expandCardiac fibroma (HP:0010617) help
........expandCardiac myxoma (HP:0011672) help
........expandCardiac hemangioma (HP:0011673) help
........expandCardiac teratoma (HP:0011674) help
........expandCardiac sarcoma (HP:0031350) help
........expandCalcified amorphous tumor of the heart (HP:0031351) help

 Sister Nodes: 
..expandHematological neoplasm (HP:0004377) help
..expandMalignant mesothelioma (HP:0100001) help
..expandNeoplasm of fatty tissue (HP:0200013) help
..expandNeoplasm of head and neck (HP:0012288) help
..expandNeoplasm of striated muscle (HP:0009728) help
..expandNeoplasm of the breast (HP:0100013) help
..expandNeoplasm of the ear (HP:0012780) help
..expandNeoplasm of the endocrine system (HP:0100568) help
..expandNeoplasm of the eye (HP:0100012) help
..expandNeoplasm of the gastrointestinal tract (HP:0007378) help
..expandNeoplasm of the genitourinary tract (HP:0007379) help
..expandNeoplasm of the lip (HP:0100604) help
..expandNeoplasm of the nail (HP:0100826) help
..expandNeoplasm of the nervous system (HP:0004375) help
..expandNeoplasm of the oral cavity (HP:0100649) help
..expandNeoplasm of the pancreas (HP:0002894) help
..expandNeoplasm of the respiratory system (HP:0100606) help
..expandNeoplasm of the skeletal system (HP:0010622) help
..expandNeoplasm of the skin (HP:0008069) help
..expandNeoplasm of the thymus (HP:0100521) help
..expandRetroperitoneal chemodectomas (HP:0006729) help
..expandSoft tissue neoplasm (HP:0031459) help
..expandVascular neoplasm (HP:0100742) 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:0100544HP:0100544Neoplasm of the heart0ACTG2 CL E G H72145ORPHA:2241Megacystis-microcolon-intestinal hypoperistalsis syndromeHP:0040283 - Occasional23
HP:0100544HP:0100544Neoplasm of the heart0IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complex23
HP:0100544HP:0100544Neoplasm of the heart0IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-223
HP:0100544HP:0100544Neoplasm of the heart0LMOD1 CL E G H258026647ORPHA:2241Megacystis-microcolon-intestinal hypoperistalsis syndromeHP:0040283 - Occasional
HP:0100544HP:0100544Neoplasm of the heart0MYH11 CL E G H46297569ORPHA:2241Megacystis-microcolon-intestinal hypoperistalsis syndromeHP:0040283 - Occasional418
HP:0100544HP:0100544Neoplasm of the heart0MYH8 CL E G H46267578OMIM:608837CARNEY COMPLEX VARIANT93
HP:0100544HP:0100544Neoplasm of the heart0MYLK CL E G H46387590ORPHA:2241Megacystis-microcolon-intestinal hypoperistalsis syndromeHP:0040283 - Occasional326
HP:0100544HP:0100544Neoplasm of the heart0PDE11A CL E G H509408773ORPHA:1359Carney complex13
HP:0100544HP:0100544Neoplasm of the heart0PDE11A CL E G H509408773ORPHA:189439Primary pigmented nodular adrenocortical disease13
HP:0100544HP:0100544Neoplasm of the heart0PDE8B CL E G H86228794ORPHA:189439Primary pigmented nodular adrenocortical disease75
HP:0100544HP:0100544Neoplasm of the heart0PRKACA CL E G H55669380ORPHA:189439Primary pigmented nodular adrenocortical disease2
HP:0100544HP:0100544Neoplasm of the heart0PRKAR1A CL E G H55739388ORPHA:1359Carney complex134
HP:0100544HP:0100544Neoplasm of the heart0PRKAR1A CL E G H55739388OMIM:160980Carney complex, type 1134
HP:0100544HP:0100544Neoplasm of the heart0PRKAR1A CL E G H55739388ORPHA:615Familial atrial myxoma134
HP:0100544HP:0100544Neoplasm of the heart0PRKAR1A CL E G H55739388OMIM:255960Myxoma, intracardiac134
HP:0100544HP:0100544Neoplasm of the heart0PRKAR1A CL E G H55739388ORPHA:189439Primary pigmented nodular adrenocortical disease134
HP:0100544HP:0100544Neoplasm of the heart0PTCH1 CL E G H57279585OMIM:109400Basal cell nevus syndrome665
HP:0100544HP:0100544Neoplasm of the heart0PTCH1 CL E G H57279585ORPHA:77301Monosomy 9q22.3665
HP:0100544HP:0100544Neoplasm of the heart0PTCH2 CL E G H86439586OMIM:109400Basal cell nevus syndrome40
HP:0100544HP:0100544Neoplasm of the heart0SOX6 CL E G H5555316421OMIM:618971TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS1
HP:0100544HP:0100544Neoplasm of the heart0SUFU CL E G H5168416466OMIM:109400Basal cell nevus syndrome124
HP:0100544HP:0100544Neoplasm of the heart0TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complex1090
HP:0100544HP:0100544Neoplasm of the heart0TSC1 CL E G H724812362OMIM:191100Tuberous sclerosis-11090
HP:0100544HP:0100544Neoplasm of the heart0TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complex2738
HP:0100544HP:0100544Neoplasm of the heart0TSC2 CL E G H724912363OMIM:613254Tuberous sclerosis-22738
HP:0100544HP:0031351Calcified amorphous tumor of the heart1 CL E G H
HP:0100544HP:0031350Cardiac sarcoma1 CL E G H
HP:0100544HP:0011674Cardiac teratoma1 CL E G H
HP:0100544HP:0009729Cardiac rhabdomyoma1IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent23
HP:0100544HP:0009729Cardiac rhabdomyoma1IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-223
HP:0100544HP:0011672Cardiac myxoma1MYH8 CL E G H46267578OMIM:608837CARNEY COMPLEX VARIANT93
HP:0100544HP:0011672Cardiac myxoma1PDE11A CL E G H509408773ORPHA:1359Carney complexHP:0040282 - Frequent13
HP:0100544HP:0011672Cardiac myxoma1PDE11A CL E G H509408773ORPHA:189439Primary pigmented nodular adrenocortical disease13
HP:0100544HP:0011672Cardiac myxoma1PDE8B CL E G H86228794ORPHA:189439Primary pigmented nodular adrenocortical disease75
HP:0100544HP:0011672Cardiac myxoma1PRKACA CL E G H55669380ORPHA:189439Primary pigmented nodular adrenocortical disease2
HP:0100544HP:0011672Cardiac myxoma1PRKAR1A CL E G H55739388ORPHA:1359Carney complexHP:0040282 - Frequent134
HP:0100544HP:0011672Cardiac myxoma1PRKAR1A CL E G H55739388OMIM:160980Carney complex, type 1134
HP:0100544HP:0011672Cardiac myxoma1PRKAR1A CL E G H55739388ORPHA:615Familial atrial myxomaHP:0040280 - Obligate134
HP:0100544HP:0011672Cardiac myxoma1PRKAR1A CL E G H55739388OMIM:255960Myxoma, intracardiac.134
HP:0100544HP:0011672Cardiac myxoma1PRKAR1A CL E G H55739388ORPHA:189439Primary pigmented nodular adrenocortical disease134
HP:0100544HP:0010617Cardiac fibroma1PTCH1 CL E G H57279585OMIM:109400Basal cell nevus syndrome665
HP:0100544HP:0009729Cardiac rhabdomyoma1PTCH1 CL E G H57279585OMIM:109400Basal cell nevus syndrome665
HP:0100544HP:0010617Cardiac fibroma1PTCH1 CL E G H57279585ORPHA:77301Monosomy 9q22.3HP:0040281 - Very frequent665
HP:0100544HP:0010617Cardiac fibroma1PTCH2 CL E G H86439586OMIM:109400Basal cell nevus syndrome40
HP:0100544HP:0009729Cardiac rhabdomyoma1PTCH2 CL E G H86439586OMIM:109400Basal cell nevus syndrome40
HP:0100544HP:0009729Cardiac rhabdomyoma1SOX6 CL E G H5555316421OMIM:618971TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS1
HP:0100544HP:0009729Cardiac rhabdomyoma1SUFU CL E G H5168416466OMIM:109400Basal cell nevus syndrome124
HP:0100544HP:0010617Cardiac fibroma1SUFU CL E G H5168416466OMIM:109400Basal cell nevus syndrome124
HP:0100544HP:0009729Cardiac rhabdomyoma1TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent1090
HP:0100544HP:0009729Cardiac rhabdomyoma1TSC1 CL E G H724812362OMIM:191100Tuberous sclerosis-1.1090
HP:0100544HP:0009729Cardiac rhabdomyoma1TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent2738
HP:0100544HP:0009729Cardiac rhabdomyoma1TSC2 CL E G H724912363OMIM:613254Tuberous sclerosis-22738


Genes (16) :ACTG2 IFNG LMOD1 MYH11 MYH8 MYLK PDE11A PDE8B PRKACA PRKAR1A PTCH1 PTCH2 SOX6 SUFU TSC1 TSC2

Diseases (13) :ORPHA:2241 ORPHA:805 OMIM:613254 OMIM:608837 ORPHA:1359 ORPHA:189439 OMIM:160980 ORPHA:615 OMIM:255960 OMIM:109400 ORPHA:77301 OMIM:618971 OMIM:191100
 

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