Human Phenotype Ontology 
Grandparent Node:
expand
Vascular neoplasm (HP:0100742)help
Parent Node:
expand
Hemangioma (HP:0001028)help
..Starting node
..expand
Cavernous hemangioma (HP:0001048)help
Term ID: 1048
Name: Cavernous hemangioma
Synonym: Cavernous angioma; Cavernous haemangioma; Collection of dilated blood vessels that forms mass
Definition: The presence of a cavernous hemangioma. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma.
Comments:
Reference: HP:0001048
Genes and Diseases:
 
       Child Nodes:
........expandCavernous hemangioma of the face (HP:0007486) help

 Sister Nodes: 
..expandArachnoid hemangiomatosis (HP:0012222) help
..expandCapillary hemangioma (HP:0005306) help
..expandCardiac hemangioma (HP:0011673) help
..expandChoroidal hemangioma (HP:0007872) help
..expandFacial hemangioma (HP:0000329) help
..expandGlabellar hemangioma (HP:0001076) help
..expandGlomeruloid hemangioma (HP:0031357) help
..expandHemangiomatosis (HP:0007461) help
..expandHepatic hemangioma (HP:0031207) help
..expandPerineal hemangioma (HP:0031449) help
..expandRetinal capillary hemangioma (HP:0009711) help
..expandTufted angioma (HP:0012329) 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:0001048HP:0001048Cavernous hemangioma0ACVRL1 CL E G H94175ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040282 - Frequent178
HP:0001048HP:0001048Cavernous hemangioma0AKT1 CL E G H207391ORPHA:201Cowden syndromeHP:0040282 - Frequent54
HP:0001048HP:0001048Cavernous hemangioma0ATP2B1 CL E G H490814OMIM:619910
HP:0001048HP:0001048Cavernous hemangioma0BIN1 CL E G H2741052ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040283 - Occasional99
HP:0001048HP:0001048Cavernous hemangioma0BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent276
HP:0001048HP:0001048Cavernous hemangioma0BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1.276
HP:0001048HP:0001048Cavernous hemangioma0CCM2 CL E G H8360521708OMIM:603284Cerebral cavernous malformations-237
HP:0001048HP:0001048Cavernous hemangioma0DNM2 CL E G H17852974ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040283 - Occasional167
HP:0001048HP:0001048Cavernous hemangioma0ENG CL E G H20223349ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040282 - Frequent186
HP:0001048HP:0001048Cavernous hemangioma0GDF2 CL E G H26584217ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040282 - Frequent8
HP:0001048HP:0001048Cavernous hemangioma0GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta.240
HP:0001048HP:0001048Cavernous hemangioma0HOXD13 CL E G H32395136ORPHA:887VACTERL/VATER associationHP:0040283 - Occasional25
HP:0001048HP:0001048Cavernous hemangioma0HRAS CL E G H32655173ORPHA:2612Linear nevus sebaceus syndromeHP:0040281 - Very frequent113
HP:0001048HP:0001048Cavernous hemangioma0IDH1 CL E G H34175382ORPHA:99646Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria15
HP:0001048HP:0001048Cavernous hemangioma0KLLN CL E G H10014474837212ORPHA:201Cowden syndromeHP:0040282 - Frequent1
HP:0001048HP:0001048Cavernous hemangioma0KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent196
HP:0001048HP:0001048Cavernous hemangioma0KRAS CL E G H38456407ORPHA:2612Linear nevus sebaceus syndromeHP:0040281 - Very frequent196
HP:0001048HP:0001048Cavernous hemangioma0KRIT1 CL E G H8891573OMIM:116860Cerebral cavernous malformations 192
HP:0001048HP:0001048Cavernous hemangioma0MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent134
HP:0001048HP:0001048Cavernous hemangioma0MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent178
HP:0001048HP:0001048Cavernous hemangioma0MTMR14 CL E G H6441926190ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040283 - Occasional7
HP:0001048HP:0001048Cavernous hemangioma0MYF6 CL E G H46187566ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040283 - Occasional19
HP:0001048HP:0001048Cavernous hemangioma0NOTCH1 CL E G H48517881OMIM:616028Adams-Oliver syndrome 5.452
HP:0001048HP:0001048Cavernous hemangioma0NRAS CL E G H48937989ORPHA:2612Linear nevus sebaceus syndromeHP:0040281 - Very frequent102
HP:0001048HP:0001048Cavernous hemangioma0PDCD10 CL E G H112358761OMIM:603285Cerebral cavernous malformations 321
HP:0001048HP:0001048Cavernous hemangioma0PIK3CA CL E G H52908975OMIM:619538CEREBRAL CAVERNOUS MALFORMATIONS 4; CCM4162
HP:0001048HP:0001048Cavernous hemangioma0PIK3CA CL E G H52908975ORPHA:201Cowden syndromeHP:0040282 - Frequent162
HP:0001048HP:0001048Cavernous hemangioma0PTEN CL E G H57289588ORPHA:201Cowden syndromeHP:0040282 - Frequent948
HP:0001048HP:0001048Cavernous hemangioma0RYR1 CL E G H626110483ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040283 - Occasional1200
HP:0001048HP:0001048Cavernous hemangioma0SDHB CL E G H639010681ORPHA:201Cowden syndromeHP:0040282 - Frequent237
HP:0001048HP:0001048Cavernous hemangioma0SDHC CL E G H639110682ORPHA:201Cowden syndromeHP:0040282 - Frequent147
HP:0001048HP:0001048Cavernous hemangioma0SDHD CL E G H639210683ORPHA:201Cowden syndromeHP:0040282 - Frequent129
HP:0001048HP:0001048Cavernous hemangioma0SEC23B CL E G H1048310702ORPHA:201Cowden syndromeHP:0040282 - Frequent60
HP:0001048HP:0001048Cavernous hemangioma0SMAD4 CL E G H40896770ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040282 - Frequent504
HP:0001048HP:0001048Cavernous hemangioma0TEK CL E G H701011724ORPHA:1059Blue rubber bleb nevusHP:0040281 - Very frequent78
HP:0001048HP:0001048Cavernous hemangioma0USF3 CL E G H20571730494ORPHA:201Cowden syndromeHP:0040282 - Frequent1
HP:0001048HP:0033522Cerebral cavernous malformation1ATP2B1 CL E G H490814OMIM:619910
HP:0001048HP:0033522Cerebral cavernous malformation1CCM2 CL E G H8360521708OMIM:603284Cerebral cavernous malformations-237
HP:0001048HP:0007486Cavernous hemangioma of the face1IDH1 CL E G H34175382ORPHA:99646Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria15
HP:0001048HP:0033522Cerebral cavernous malformation1KRIT1 CL E G H8891573OMIM:116860Cerebral cavernous malformations 192
HP:0001048HP:0033522Cerebral cavernous malformation1PDCD10 CL E G H112358761OMIM:603285Cerebral cavernous malformations 321
HP:0001048HP:0033522Cerebral cavernous malformation1PIK3CA CL E G H52908975OMIM:619538CEREBRAL CAVERNOUS MALFORMATIONS 4; CCM4162


Genes (33) :ACVRL1 AKT1 ATP2B1 BIN1 BRAF CCM2 DNM2 ENG GDF2 GNPTAB HOXD13 HRAS IDH1 KLLN KRAS KRIT1 MAP2K1 MAP2K2 MTMR14 MYF6 NOTCH1 NRAS PDCD10 PIK3CA PTEN RYR1 SDHB SDHC SDHD SEC23B SMAD4 TEK USF3

Diseases (16) :ORPHA:774 ORPHA:201 OMIM:619910 ORPHA:169189 ORPHA:1340 OMIM:115150 OMIM:603284 OMIM:252500 ORPHA:887 ORPHA:2612 ORPHA:99646 OMIM:116860 OMIM:616028 OMIM:603285 OMIM:619538 ORPHA:1059
 

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