MCID: CVR006
MIFTS: 51

Cavernous Hemangioma

Categories: Blood diseases, Cardiovascular diseases, Neuronal diseases

Aliases & Classifications for Cavernous Hemangioma

MalaCards integrated aliases for Cavernous Hemangioma:

Name: Cavernous Hemangioma 12 73 29 6 15 17
Hemangioma, Cavernous 44 70
Cavernous Haemangioma 12
Cavernomas 53
Cavernoma 12

Classifications:



External Ids:

Disease Ontology 12 DOID:483
MeSH 44 D006392
NCIt 50 C3086
SNOMED-CT 67 67668002
ICD10 32 D18.0
UMLS 70 C0018920

Summaries for Cavernous Hemangioma

NINDS : 53 Cerebral cavernous malformations (CCMs) are vascular lesions comprised of clusters of tightly packed, abnormally thin-walled small blood vessels (capillaries) that displace normal neurological tissue in the brain or spinal cord. The vessels are filled with slow-moving or stagnant blood that is usually clotted or in a state of decomposition. Cavernous malformations can occur in the brain, spinal cord, and some other body regions. In the brain and spinal cord these cavernous lesions are quite fragile and are prone to bleeding, causing hemorrhagic strokes (bleeding into the brain), seizures, and neurological deficits. CCMs can range in size from a few fractions of an inch to several inches in diameter, depending on the number of blood vessels involved. Some people develop multiple lesions while others never experience related medical problems. Hereditary forms of CCM are caused by mutations in one of three CCM disease genes: CCM1, CCM2, and CCM3. A large population with hereditary CCM disease is found in New Mexico and the Southwestern United States, in which the disease is caused by mutations in the gene CCM1 (or KRIT1).

MalaCards based summary : Cavernous Hemangioma, also known as hemangioma, cavernous, is related to cerebral cavernous malformations and cerebral cavernous malformation, familial. An important gene associated with Cavernous Hemangioma is KRIT1 (KRIT1 Ankyrin Repeat Containing), and among its related pathways/superpathways are Ras signaling pathway and Cytoskeletal Signaling. The drugs Atorvastatin and Propranolol have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and liver, and related phenotypes are cellular and cardiovascular system

Wikipedia : 73 Cavernous hemangioma, also called cavernous angioma, cavernoma, or cerebral cavernoma (CCM) (when... more...

Related Diseases for Cavernous Hemangioma

Diseases related to Cavernous Hemangioma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 946)
# Related Disease Score Top Affiliating Genes
1 cerebral cavernous malformations 32.9 PECAM1 PDCD10 KRIT1 KDR CCM2
2 cerebral cavernous malformation, familial 32.7 PDCD10 KRIT1 CCM2
3 intracranial cavernous angioma 32.5 PDCD10 KRIT1 CCM2
4 cerebral cavernous malformations 3 32.3 PDCD10 KRIT1 CCM2
5 cerebral cavernous malformations 2 32.3 PDCD10 KRIT1 CCM2
6 hemangioma of liver 31.6 PDCD10 KRIT1 CCM2
7 cavernous malformation 31.3 PDCD10 KRIT1 CCM2
8 rare tumor 31.2 KIT DES
9 hemangioma 31.0 VIM SYP PECAM1 PDCD10 NKX2-1 KRT7
10 adenoma 30.9 SYP MKI67 KRT7 KRT20
11 meningioma, familial 30.9 VIM SYP PDCD10 MKI67 CD34
12 gastric hemangioma 30.7 SYP KIT F2
13 capillary hemangioma 30.7 PECAM1 KDR FGF2 CD34
14 liver angiosarcoma 30.6 VIM PECAM1 KRT19
15 pericardial effusion 30.6 FGF2 F2 CD34
16 budd-chiari syndrome 30.5 VIM PDGFRA F2
17 hemangioma of spleen 30.5 PECAM1 CD34
18 klippel-trenaunay-weber syndrome 30.5 PDCD10 KRIT1 F2 CCM2
19 lymphangioma 30.5 VIM PECAM1 KDR CD34
20 intramuscular hemangioma 30.5 PECAM1 CD34
21 cystadenoma 30.5 SYP KRT7 KRT20
22 central nervous system hemangioma 30.4 PECAM1 CD34
23 brain angioma 30.4 PDCD10 KRIT1 CCM2
24 sarcoma 30.4 VIM PDGFRA KIT KDR FGF2
25 neurilemmoma 30.4 VIM PDGFRA KIT DES CD34
26 angiosarcoma 30.4 VIM PECAM1 KRT7 KIT KDR CD34
27 abducens nerve disease 30.4 SYP F2
28 arteriovenous malformations of the brain 30.4 PECAM1 PDCD10 KDR
29 gastric leiomyosarcoma 30.3 PDGFRA KIT
30 juvenile nasopharyngeal angiofibroma 30.3 PECAM1 KIT FGF2
31 pleomorphic adenoma 30.3 VIM KRT7 DES
32 sclerosing hemangioma 30.2 SYP NKX2-1 KRT7
33 teratoma 30.2 SYP NKX2-1 KRT7 KRT20 KIT
34 bladder lateral wall cancer 30.2 SYP KRT7 KRT20
35 hydrocele 30.2 PECAM1 KRT7 KRT19
36 angiomyolipoma 30.2 VIM KRT7 KIT DES
37 intussusception 30.1 PECAM1 KIT KDR FGF2 CD34
38 central neurocytoma 30.1 SYP MKI67 FGF2
39 mesenchymal cell neoplasm 30.1 PECAM1 PDGFRA KIT CD34
40 breast hemangioma 30.1 PECAM1 KRT7 CD34
41 spindle cell sarcoma 30.0 VIM KRT7 KIT DES CD34
42 intestinal obstruction 30.0 KRT7 KRT20 KIT CD34
43 adenoid cystic carcinoma 30.0 VIM KRT7 KRT20 KRT19 KIT
44 klatskin's tumor 30.0 KRT7 KRT19 F2
45 pheochromocytoma 30.0 VIM SYP KRT7 KIT KDR FGF2
46 transitional cell carcinoma 30.0 MKI67 KRT7 KRT20 KRT19
47 bile duct adenoma 30.0 VIM KRT7 KRT20 KRT19
48 chordoma 30.0 VIM PDGFRA KRT7 KRT19 DES
49 histiocytoid hemangioma 30.0 PECAM1 CD34
50 cauda equina syndrome 29.9 SYP F2

Graphical network of the top 20 diseases related to Cavernous Hemangioma:



Diseases related to Cavernous Hemangioma

Symptoms & Phenotypes for Cavernous Hemangioma

MGI Mouse Phenotypes related to Cavernous Hemangioma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.33 CCM2 CD34 DES F2 FGF2 KDR
2 cardiovascular system MP:0005385 10.32 CCM2 DES F2 FGF2 KDR KIT
3 homeostasis/metabolism MP:0005376 10.25 CCM2 CD34 DES F2 FGF2 KDR
4 mortality/aging MP:0010768 10.21 CCM2 DERL1 DES F2 FGF2 KDR
5 embryo MP:0005380 10.17 CCM2 DERL1 F2 KDR KIT KRIT1
6 muscle MP:0005369 10.1 CCM2 DES F2 FGF2 KDR KIT
7 nervous system MP:0003631 9.93 CCM2 F2 FGF2 KDR KIT KRIT1
8 neoplasm MP:0002006 9.86 CD34 FGF2 KIT KRIT1 KRT19 NKX2-1
9 normal MP:0002873 9.7 CCM2 F2 KDR KIT KRT19 MKI67
10 respiratory system MP:0005388 9.28 F2 KDR KIT KRT19 MB NKX2-1

Drugs & Therapeutics for Cavernous Hemangioma

Drugs for Cavernous Hemangioma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 24)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Atorvastatin Approved Phase 1, Phase 2 134523-00-5 60823
2
Propranolol Approved, Investigational Phase 2 525-66-6 4946
3 Anticholesteremic Agents Phase 1, Phase 2
4 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 1, Phase 2
5 Antimetabolites Phase 1, Phase 2
6 Lipid Regulating Agents Phase 1, Phase 2
7 Hypolipidemic Agents Phase 1, Phase 2
8 Vasodilator Agents Phase 2
9 Anti-Arrhythmia Agents Phase 2
10 Adrenergic Antagonists Phase 2
11 Adrenergic beta-Antagonists Phase 2
12 Neurotransmitter Agents Phase 2
13 Adrenergic Agents Phase 2
14 Antihypertensive Agents Phase 2
15
Doxycycline Approved, Investigational, Vet_approved Phase 1 564-25-0 54671203
16 Antimalarials Phase 1
17 Antiparasitic Agents Phase 1
18 Anti-Bacterial Agents Phase 1
19 Anti-Infective Agents Phase 1
20 Antiprotozoal Agents Phase 1
21
Simvastatin Approved Early Phase 1 79902-63-9 54454
22 Liver Extracts
23 Analgesics
24 Anticonvulsants

Interventional clinical trials:

(show all 16)
# Name Status NCT ID Phase Drugs
1 Treat_CCM Clinical Trial A Multicenter Randomized Clinical Trial on Propranolol in Cerebral Cavernous Malformation Unknown status NCT03589014 Phase 2 Propranolol
2 Phase I-II Randomized, Placebo-Controlled, Single-Blinded, Single-Site Clinical Trial of Atorvastatin in the Treatment of Cavernous Angiomas With Symptomatic Hemorrhage Exploratory Proof of Concept (AT CASH EPOC) Recruiting NCT02603328 Phase 1, Phase 2 Atorvastatin
3 Effect of Oral Propranolol on mRNA Expression in Symptomatice Caavernous Malformation Active, not recruiting NCT03474614 Phase 2 Propranolol
4 Oral Propanolol for Surgically Inaccessible Cerebral and Spinal Cavernous Malformations Unknown status NCT03523650 Phase 1 Propranolol Oral Tablet;Placebo Oral Tablet
5 Influence of Matrix Metalloproteinase on Brain Arteriovenous Malformation Hemorrhage Completed NCT00783523 Phase 1 Doxycycline or Placebo
6 A Prospective Study on the Incidence and Related Risk Factors of Infantile Hemangioma in China Unknown status NCT03173352
7 A Prospective Controlled Study on Treatment of Giant Cavernous Hemangiomas of the Liver:RFA Versus Laparoscopic Hepatectomy. Completed NCT01471080
8 Permeability MRI in Cerebral Cavernous Malformations Type 1 in New Mexico: Effects of Statins Completed NCT01764451 Early Phase 1 Simvastatin
9 CASH (Cavernous Angiomas With Symptomatic Hemorrhage) Trial Readiness Recruiting NCT03652181
10 Biomarkers of Cerebral Cavernous Angioma With Symptomatic Hemorrhage (CASH) Recruiting NCT04467489
11 Modifiers of Disease Severity and Progression in Cerebral Cavernous Malformations Recruiting NCT01764529
12 Quantitative Susceptibility Mapping Biomarker, Brain Structure and Connectome Associated With Cerebral Cavernous Malformation Related Epilepsy and Outcome After Surgery Recruiting NCT04076449
13 Treatments and Outcomes of Untreated Cerebral Cavernous Malformations in CHINA (TOUCH): A Nationwide Multicenter Prospective Cohort Study. Recruiting NCT03467295
14 A Prospective Study for the Natural History and the Risk Factors of Prospective Symptomatic Hemorrhage in Adult Patients With Cerebral Cavernous Malformation Active, not recruiting NCT02946866
15 Pattern and Management of Intracranial Cavernoma Not yet recruiting NCT04181086
16 Characteristic of Patients With Gastroesophageal Varices and Portal Cavernoma Not yet recruiting NCT04525768

Search NIH Clinical Center for Cavernous Hemangioma

Cochrane evidence based reviews: hemangioma, cavernous

Genetic Tests for Cavernous Hemangioma

Genetic tests related to Cavernous Hemangioma:

# Genetic test Affiliating Genes
1 Cavernous Hemangioma 29

Anatomical Context for Cavernous Hemangioma

MalaCards organs/tissues related to Cavernous Hemangioma:

40
Brain, Spinal Cord, Liver, Spleen, Colon, Retina, Smooth Muscle

Publications for Cavernous Hemangioma

Articles related to Cavernous Hemangioma:

(show top 50) (show all 2821)
# Title Authors PMID Year
1
Giant esophageal hemangioma diagnosed by 99mTc-HSA-D scintigraphy following equivocal CT, MRI, and endoscopy. 61
33680270 2021
2
Endoscopic Ultrasound-Guided Ethanol Injection Associated with Trans-arterial Embolization of a Giant Intra-abdominal Cavernous Hemangioma: Case Report and New Therapeutic Option. 61
33411258 2021
3
Stereotactic gamma knife radiosurgery for orbital cavernous hemangioma: clinical outcome and visual function protection. 61
33491148 2021
4
Letter to the Editor Regarding the Article Stop Calling Me Cavernous Hemangioma! A Literature Review on Misdiagnosed Bony Vascular Anomalies. 61
33663317 2021
5
Two hepatic cavernous hemangiomas mimicking colorectal liver metastasis: A rare case report. 61
33774442 2021
6
Cerebral Cavernous Malformation 2 Syndrome Presenting With Retinal Cavernous Hemangioma and Sixth Cranial Nerve Palsy. 61
33729445 2021
7
Acute Presentation of Third Ventricular Cavernous Malformation following COVID-19 Infection in a Pregnant Woman: A Case Report. 61
33771616 2021
8
[Secondary eyelid pockets: Pitfalls in blepharoplasty surgery]. 61
33516573 2021
9
Small Intestinal Hemangioma: A Case Report. 61
33774648 2021
10
Transpalpebral Superolateral Orbitotomy for Orbital Cavernous Hemangioma Extirpation: 2-Dimensional Operative Video. 61
33432969 2021
11
Gaze-evoked amaurosis from idiopathic orbital inflammation. 61
33781156 2021
12
A case of dyschromatosis symmetrica hereditaria with an associated eyelid hemangioma. 61
33434773 2021
13
Spontaneous intracapsular hemorrhage of a giant hepatic cavernous hemangioma: a rare case report and literature review. 61
33622256 2021
14
[Bleeding from an orbital cavernous hemangioma: A rare presentation]. 61
33187738 2021
15
A Large Cavernous Hemangioma of Esophagus. 61
32467504 2021
16
[Multimodal imaging of a retinal cavernous hemangioma in a 4-year-old child]. 61
33573795 2021
17
Exophytic cavernous hemangioma arising from the right ventricle: Report of a rare case. 61
33559333 2021
18
Partial Splenectomy for a Sizeable Cavernous Hemangioma: Case Report and a Review of the Literature. 61
33633911 2021
19
Intraneural cavernous hemangioma: a rare case of extrafascicular left ulnar nerve tumor. 61
33796392 2021
20
A unique case of multiple calvarial hemangiomas with one large symplastic hemangioma. 61
33468071 2021
21
Concurrent epithelioid hemangioma and diffuse cavernous hemangioma in the rectum clinically mimicking a malignant tumor: a case report. 61
33496804 2021
22
Aggressive growing of the infantile cavernous hemangioma of the calvaria: a case report and review of literature. 61
32435889 2021
23
Adrenal cavernous Hemangioma;A rare diagnosis of adrenal incidentaloma:A case report, and literature review. 61
33204642 2021
24
Intraosseous Cavernous Hemangioma of the Middle Turbinate: A Case Report. 61
33464129 2021
25
Clinical applications of the endoscopic transorbital approach for various lesions. 61
33394139 2021
26
Retrospective Case Analysis of Transnasal Endoscopic Resection of Benign Orbital Apex Tumors: Some Thoughts on Transnasal Endoscopic Surgery. 61
33628479 2021
27
First Report of Pai Syndrome With Upper Alveolar Cavernous Hemangioma: Diagnosis and Surgical Treatment. 61
32796311 2021
28
Multisession CyberKnife Radiosurgery for Orbital Cavernous Hemangiomas. 61
33614316 2021
29
Intrasellar cavernous hemangiomas: A case report with a comprehensive review of the literature. 61
33654561 2021
30
Cavernous sinus lesions. 61
32574933 2020
31
Exclusively endoscopic endonasal resection of benign orbital tumors: a systematic review and meta-analysis. 61
33350602 2020
32
Adult Orbital Lesions in Saudi Arabia: A Multi-centered Demographic Study with Clinicopathological Correlation. 61
32959608 2020
33
A hepatic sclerosed hemangioma with drastic changes in contrast-enhanced ultrasonography. 61
32705537 2020
34
Sclerotic changes of cavernous hemangioma in the cirrhotic liver: long-term follow-up using dynamic contrast-enhanced computed tomography. 61
32415477 2020
35
Retinal Cavernous Hemangioma With Multiple Saccules Not Filled With Blood. 61
33300968 2020
36
Endoscopic open rhinoplasty enables a cosmetic approach for a rare case of intraosseous cavernous hemangioma in the nasal bone. 61
31932073 2020
37
A cavernous hemangioma of the tongue base presenting as an ectopic thyroid: A case report. 61
33145019 2020
38
Cavernous hemangioma of the tympanic membrane. Case report and review of literature. 61
32087925 2020
39
Intramedullary cavernous hemangioma of the spinal cord with intra- and extramedullary hematomas. 61
33160819 2020
40
Comparing Image Segmentation Techniques for Determining 3D Orbital Cavernous Hemangioma Size on MRI. 61
32427734 2020
41
Imaging characteristics of Intrasellar cavernous hemangioma: A case report. 61
33217885 2020
42
Sternal cavernous hemangioma and reconstruction of the anterior chest wall: a case report. 61
33213427 2020
43
High resolution mass spectrometry provides novel insights into the ganglioside pattern of brain cavernous hemangioma. 61
32987010 2020
44
[Cavernous hemangioma of the orbit: diagnosis and management]. 61
33146966 2020
45
Intravascular Papillary Endothelial Hyperplasia as a Cause of Reversible Vision Loss. 61
33235177 2020
46
Giant Cavernous Hemangioma of the Liver in a Patient with Autosomal Dominant Polycystic Kidney Disease. 61
33206631 2020
47
Telangiectatic Squamous Cell Carcinoma of Uterine Cervix: A Previously Undescribed Variant of Squamous Cell Carcinoma. 61
31651557 2020
48
Stop Calling Me Cavernous Hemangioma! A Literature Review on Misdiagnosed Bony Vascular Anomalies. 61
33153336 2020
49
Clinical features and long-term surgical outcomes of pure spinal epidural cavernous hemangioma-report of 23 cases. 61
32447564 2020
50
Multimodal imaging of a retinal cavernous hemangioma. 61
33148021 2020

Variations for Cavernous Hemangioma

ClinVar genetic disease variations for Cavernous Hemangioma:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CCM2 NM_001029835.2(CCM2):c.417C>G (p.Tyr139Ter) SNV Pathogenic 374160 rs765548101 GRCh37: 7:45104127-45104127
GRCh38: 7:45064528-45064528
2 KRIT1 NM_194456.1(KRIT1):c.902C>G (p.Ser301Ter) SNV Pathogenic 523476 rs1554527169 GRCh37: 7:91863850-91863850
GRCh38: 7:92234536-92234536
3 PDCD10 NM_007217.4(PDCD10):c.474+5G>A SNV Likely pathogenic 468331 rs1553759139 GRCh37: 3:167405398-167405398
GRCh38: 3:167687610-167687610
4 KRIT1 NM_194456.1(KRIT1):c.990-1G>A SNV Likely pathogenic 523477 rs1554518790 GRCh37: 7:91855997-91855997
GRCh38: 7:92226683-92226683

Expression for Cavernous Hemangioma

Search GEO for disease gene expression data for Cavernous Hemangioma.

Pathways for Cavernous Hemangioma

GO Terms for Cavernous Hemangioma

Cellular components related to Cavernous Hemangioma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell-cell junction GO:0005911 9.26 PECAM1 KRIT1 KIT DES
2 intermediate filament GO:0005882 9.02 VIM KRT7 KRT20 KRT19 DES

Biological processes related to Cavernous Hemangioma according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 viral process GO:0016032 9.93 VIM PDGFRA KRT7 KRT19 KDR DERL1
2 extracellular matrix organization GO:0030198 9.91 PECAM1 PDGFRA KDR FGF2
3 positive regulation of cell proliferation GO:0008284 9.91 PDGFRA PDCD10 KIT KDR FGF2 F2
4 angiogenesis GO:0001525 9.89 PDCD10 KRIT1 KDR FGF2
5 positive regulation of protein phosphorylation GO:0001934 9.84 PECAM1 KDR FGF2 F2
6 positive regulation of gene expression GO:0010628 9.8 VIM PDCD10 NKX2-1 KIT FGF2 CD34
7 positive regulation of kinase activity GO:0033674 9.75 PDGFRA KIT KDR
8 hematopoietic progenitor cell differentiation GO:0002244 9.7 PDGFRA KIT KDR
9 positive regulation of MAP kinase activity GO:0043406 9.67 PDCD10 KIT FGF2
10 positive regulation of cell migration GO:0030335 9.65 PECAM1 PDGFRA PDCD10 KIT KDR
11 positive regulation of vasculogenesis GO:2001214 9.6 KDR CD34
12 Leydig cell differentiation GO:0033327 9.58 PDGFRA NKX2-1
13 stem cell proliferation GO:0072089 9.57 FGF2 CD34
14 negative regulation of platelet activation GO:0010544 9.56 PDGFRA F2
15 vascular wound healing GO:0061042 9.55 KDR CD34
16 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.54 PDGFRA KIT FGF2
17 paracrine signaling GO:0038001 9.51 FGF2 CD34
18 endothelium development GO:0003158 9.48 KDR CD34
19 glomerular endothelium development GO:0072011 9.4 PECAM1 CD34
20 intermediate filament organization GO:0045109 9.33 VIM KRT20 DES
21 positive regulation of phospholipase C activity GO:0010863 9.13 PDGFRA KIT FGF2
22 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.02 PDGFRA KIT KDR FGF2 F2

Molecular functions related to Cavernous Hemangioma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.3 VIM SYP PECAM1 PDGFRA PDCD10 NKX2-1
2 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.33 PDGFRA KIT KDR
3 vascular endothelial growth factor-activated receptor activity GO:0005021 9.26 PDGFRA KDR
4 vascular endothelial growth factor binding GO:0038085 8.96 PDGFRA KDR
5 structural constituent of cytoskeleton GO:0005200 8.92 VIM KRT20 KRT19 DES

Sources for Cavernous Hemangioma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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