MCID: CVR006
MIFTS: 52

Cavernous Hemangioma

Categories: Blood diseases, Neuronal diseases

Aliases & Classifications for Cavernous Hemangioma

MalaCards integrated aliases for Cavernous Hemangioma:

Name: Cavernous Hemangioma 12 77 30 6 15 17
Hemangioma, Cavernous 45 74
Cavernous Haemangioma 12
Cavernomas 55
Cavernoma 12

Classifications:



External Ids:

Disease Ontology 12 DOID:483
MeSH 45 D006392
NCIt 51 C3086
ICD10 34 D18.0
UMLS 74 C0018920

Summaries for Cavernous Hemangioma

NINDS : 55 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 malformations 3. An important gene associated with Cavernous Hemangioma is KRIT1 (KRIT1 Ankyrin Repeat Containing), and among its related pathways/superpathways are Angiogenesis (CST) and Neural Stem Cell Differentiation Pathways and Lineage-specific Markers. The drugs Timolol and Strawberry have been mentioned in the context of this disorder. Affiliated tissues include liver, brain and spinal cord, and related phenotypes are cardiovascular system and cellular

Wikipedia : 77 Cavernous hemangioma, also called cavernous angioma, cavernoma, or cerebral cavernous malformation (CCM)... 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 400)
# Related Disease Score Top Affiliating Genes
1 cerebral cavernous malformations 33.8 CCM2 KDR KRIT1 PDCD10
2 cerebral cavernous malformations 3 32.4 CCM2 KRIT1 PDCD10
3 cerebral cavernous malformations 2 32.3 CCM2 KRIT1 PDCD10
4 hemangioma 32.0 CCM2 KDR KRIT1 NKX2-1 PECAM1 SYP
5 hemangioma of liver 31.3 F2 KRIT1
6 hemangioendothelioma 31.0 KDR PECAM1
7 cavernous malformation 30.7 CCM2 KRIT1 PDCD10
8 klippel-trenaunay-weber syndrome 30.7 CCM2 KRIT1 PDCD10
9 angiosarcoma 30.6 KDR MUC1 PECAM1 VIM
10 meningioma, familial 30.6 MKI67 PDCD10 SYP
11 secretory meningioma 30.4 KRT7 MUC1 VIM
12 human venous malformation 30.4 CCM2 KRIT1 PDCD10
13 ependymoma 30.2 MKI67 MUC1 SYP VIM
14 teratoma 30.1 KRT7 NKX2-1 SYP
15 sarcoma, synovial 29.9 KRT7 MUC1 VIM
16 bile duct adenoma 29.7 KRT20 KRT7 MUC1
17 neurofibroma 29.6 MUC1 PDGFRA SYP
18 intrahepatic cholangiocarcinoma 29.4 KRT20 KRT7 MUC1
19 renal cell carcinoma, nonpapillary 29.0 KDR KRT20 KRT7 MUC1 NKX2-1 VIM
20 adenoid cystic carcinoma 28.7 KRT14 KRT20 KRT7 MKI67 MUC1 TP63
21 cavernous hemangioma of colon 12.4
22 cavernous hemangioma of face 12.4
23 diffuse cavernous hemangioma of the rectum 12.4
24 cavernous hemangioma of orbit 12.3
25 supraumbilical midabdominal raphe and facial cavernous hemangiomas 12.3
26 multiple enchondromatosis, maffucci type 11.9
27 intracranial cavernous angioma 11.6
28 capillary hemangioma 11.6
29 dermal unilateral segmental cavernous angioma 11.5
30 cerebral cavernous malformation, familial 11.5
31 hemangiomas, cavernous, of face and supraumbilical midline raphe 11.2
32 acinar cell cystadenocarcinoma 10.5 MKI67 SYP
33 kaposiform hemangioendothelioma 10.5 KDR PECAM1
34 primary hepatic neuroendocrine carcinoma 10.5 SYP VIM
35 ossifying fibromyxoid tumor 10.5 MUC1 VIM
36 syringocystadenoma papilliferum 10.5 MUC1 VIM
37 eccrine porocarcinoma 10.5 MUC1 VIM
38 fibrous meningioma 10.5 MUC1 VIM
39 malignant peritoneal mesothelioma 10.5 MUC1 VIM
40 benign metastasizing leiomyoma 10.5 KRT7 VIM
41 sensory organ benign neoplasm 10.5 KRT7 SYP
42 gallbladder small cell carcinoma 10.4 KRT7 SYP
43 endosalpingiosis 10.4 KRT7 MUC1
44 bile duct mucoepidermoid carcinoma 10.4 KRT7 MUC1
45 mesenteric vascular occlusion 10.4 F2 MB
46 large cell acanthoma 10.4 KRT14 KRT7
47 apocrine sweat gland neoplasm 10.4 KRT14 KRT7
48 oncocytic breast carcinoma 10.4 KRT14 KRT7
49 ovarian germ cell cancer 10.4 KRT7 NKX2-1
50 orbital cancer 10.4 MB SYP

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:

47 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.37 CCM2 F2 HSPA5 KDR KRIT1 MB
2 cellular MP:0005384 10.36 CCM2 HSPA5 KDR KRT14 KRT7 MB
3 homeostasis/metabolism MP:0005376 10.3 CCM2 F2 HSPA5 KDR KRT14 KRT7
4 growth/size/body region MP:0005378 10.27 CCM2 F2 HSPA5 KDR KRIT1 KRT14
5 embryo MP:0005380 10.25 CCM2 F2 HSPA5 KDR KRIT1 MB
6 mortality/aging MP:0010768 10.22 CCM2 F2 HSPA5 KDR KRIT1 KRT14
7 hematopoietic system MP:0005397 10.18 CCM2 F2 KDR KRT14 MB PDCD10
8 digestive/alimentary MP:0005381 10.13 F2 HSPA5 KRT14 NKX2-1 PDGFRA PECAM1
9 integument MP:0010771 10.13 CCM2 F2 HSPA5 KDR KRIT1 KRT14
10 craniofacial MP:0005382 10.08 CCM2 HSPA5 KDR KRIT1 KRT14 PDGFRA
11 muscle MP:0005369 10.07 CCM2 KDR KRIT1 MB PDCD10 PDGFRA
12 nervous system MP:0003631 10 CCM2 F2 HSPA5 KDR KRIT1 NKX2-1
13 normal MP:0002873 9.9 CCM2 F2 HBG2 HSPA5 KDR MKI67
14 neoplasm MP:0002006 9.87 HSPA5 KRIT1 KRT14 NKX2-1 PDCD10 PDGFRA
15 respiratory system MP:0005388 9.65 F2 HSPA5 KDR KRT14 MB NKX2-1
16 vision/eye MP:0005391 9.23 CCM2 KDR KRIT1 KRT14 PDCD10 TP63

Drugs & Therapeutics for Cavernous Hemangioma

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

(show all 28)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Timolol Approved Phase 2 26839-75-8 33624 5478
2 Strawberry Approved Phase 2
3
Atorvastatin Approved Phase 1, Phase 2 134523-00-5 60823
4
Propranolol Approved, Investigational Phase 2,Phase 1 525-66-6 4946
5
SB-649868 Experimental, Investigational Phase 2 110-16-7, 110-17-8 444972
6 Adrenergic Antagonists Phase 2,Phase 1
7 Adrenergic beta-Antagonists Phase 2,Phase 1
8 Anti-Arrhythmia Agents Phase 2,Phase 1
9 Neurotransmitter Agents Phase 2,Phase 1
10 Adrenergic Agents Phase 2,Phase 1
11 Antihypertensive Agents Phase 2,Phase 1
12 Lipid Regulating Agents Phase 1, Phase 2,Early Phase 1
13 Anticholesteremic Agents Phase 1, Phase 2,Early Phase 1
14 Hypolipidemic Agents Phase 1, Phase 2,Early Phase 1
15 Antimetabolites Phase 1, Phase 2,Early Phase 1
16 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 1, Phase 2,Early Phase 1
17 Vasodilator Agents Phase 2,Phase 1
18
Doxycycline Approved, Investigational, Vet_approved Phase 1 564-25-0 54671203
19 Anti-Bacterial Agents Phase 1
20 Anti-Infective Agents Phase 1
21 Antimalarials Phase 1
22 Antiparasitic Agents Phase 1
23 Antiprotozoal Agents Phase 1
24
Simvastatin Approved Early Phase 1 79902-63-9 54454
25 Hematinics Not Applicable
26 Liver Extracts Not Applicable
27 Analgesics
28 Anticonvulsants

Interventional clinical trials:

(show all 15)
# Name Status NCT ID Phase Drugs
1 Effectiveness and Safety of Intense Pulsed Light in Patients With Meibomian Gland Dysfunction Not yet recruiting NCT03518398 Phase 3
2 Topical Timolol Gel for the Treatment of Infantile Hemangiomas Completed NCT02145884 Phase 2 timolol maleate 0.5% gel
3 Atorvastatin Treatment of Cavernous Angiomas With Symptomatic Hemorrhage Exploratory Proof of Concept (AT CASH EPOC) Trial Recruiting NCT02603328 Phase 1, Phase 2 Atorvastatin
4 Treat_CCM: Propranolol in Cerebral Cavernous Malformation Recruiting NCT03589014 Phase 2 Propranolol
5 Effect of Oral Propranolol on mRNA Expresssion in Symptomatic Cavernous Malformation Recruiting NCT03474614 Phase 2 Propranolol
6 Influence of MMP on Brain AVM Hemorrhage Completed NCT00783523 Phase 1 Doxycycline or Placebo
7 Oral Propanolol for Surgically Inaccessible Cavernous Malformations Enrolling by invitation NCT03523650 Phase 1 Propranolol Oral Tablet;Placebo Oral Tablet
8 Cerebral Bases Bodily Representations Unknown status NCT02876016 Not Applicable
9 A Prospective Controlled Study on Treatment of Giant Cavernous Hemangiomas of the Liver Completed NCT01471080 Not Applicable
10 Permeability MRI in Cerebral Cavernous Malformations Type 1 in New Mexico: Effects of Statins Completed NCT01764451 Early Phase 1 Simvastatin
11 CASH (Cavernous Angiomas With Symptomatic Hemorrhage) Trial Readiness Recruiting NCT03652181
12 Modifiers of Disease Severity in Cerebral Cavernous Malformations Recruiting NCT01764529
13 A Prospective Study on the Incidence and Related Risk Factors of Infantile Hemangioma in China Recruiting NCT03173352
14 Treatments and Outcomes of Untreated Cerebral Cavernous Malformations in CHina. Recruiting NCT03467295
15 CoHOrt of Cerebral CavernOus maLformATion: multicEnter Prospective Observational Study Recruiting NCT02946866

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 30

Anatomical Context for Cavernous Hemangioma

MalaCards organs/tissues related to Cavernous Hemangioma:

42
Liver, Brain, Spinal Cord, Bone, Smooth Muscle, Colon, Adrenal Gland

Publications for Cavernous Hemangioma

Articles related to Cavernous Hemangioma:

(show top 50) (show all 1273)
# Title Authors Year
1
Diffuse cavernous hemangioma of the skull misdiagnosed as skull metastasis in breast cancer patient: one case report and literature review. ( 30803439 )
2019
2
Urethral cavernous hemangioma in female: Surgical resection and reconstruction with ventral vaginal graft urethroplasty. ( 30591908 )
2019
3
Surgical treatment of an asymptomatic giant supratentorial cavernous hemangioma. Case report. ( 30616875 )
2019
4
Intrapericardial cavernous hemangioma: an unusual mediastinal tumor! ( 30650037 )
2019
5
Urethral cavernous hemangioma: a highly misdiagnosed disease (a case report of two patients and literature review). ( 30704439 )
2019
6
When one expects a prolapsed lumbar disk and finds a Pure Epidural Spinal Cavernous Hemangioma (PESCH): a "neurosurgical surprise"! ( 30724051 )
2019
7
Development of the international orbital Cavernous Hemangioma Exclusively Endonasal Resection (CHEER) staging system. ( 30809970 )
2019
8
Familial Cavernous Hemangioma. ( 30893269 )
2019
9
A case of retinal cavernous hemangioma analyzed with optical coherence tomography angiography. ( 30900601 )
2019
10
Sudden spinal hemorrhage in a pediatric case with total body irradiation-induced cavernous hemangioma. ( 29797651 )
2018
11
Giant Colonic Cavernous Hemangioma Causing Hematochezia inA a 14-Year-Old Boy. ( 29806995 )
2018
12
Dural Penetration of Cavernous Hemangioma on Skull: Uncommon Clinical Presentation. ( 29109062 )
2018
13
Analysis of the characteristics of optical coherence tomography angiography for retinal cavernous hemangioma: A case report. ( 29443780 )
2018
14
Cavernous hemangioma of the interatrial septum. ( 29629515 )
2018
15
Optic Nerve Meningioma Mimicking Cavernous Hemangioma. ( 29191527 )
2018
16
Letter to the Editor Regarding "Optic Nerve Meningioma Mimicking Cavernous Hemangioma". ( 29499604 )
2018
17
A new surgical technique for excision of orbital cavernous hemangioma: a 15-year experience. ( 29442536 )
2018
18
Endoscopic management of Atypical sellar cavernous hemangioma: A case report and review of the literature. ( 29248833 )
2018
19
Venous Malformation (Cavernous Hemangioma) of the Supraorbital Nerve. ( 29682072 )
2018
20
Cavernous Hemangioma Between the Elastomer and Fibrous Capsule of a Breast Implant. ( 29872905 )
2018
21
RETINAL CAVERNOUS HEMANGIOMA WITH INTRALESIONAL PHLEBOLITHS. ( 29505489 )
2018
22
A Giant Cardiac Cavernous Hemangioma Involving the Left Atrial Roof in an Elderly Woman. ( 29459567 )
2018
23
Multidisciplinary management of an intra-sellar cavernous hemangioma: Case report and review of the literature. ( 29622503 )
2018
24
Orbital Cavernous Hemangioma Causing Spontaneous Compressive Hemorrhage. ( 29419596 )
2018
25
Gastric Cavernous Hemangioma Resected by Endoscopic Submucosal Dissection. ( 29607958 )
2018
26
Multifocal cavernous hemangioma of the jugular foramen: a rare skull base vascular malformation. ( 29979118 )
2018
27
Cavernous hemangioma of the thymus: A case report and review of the literature. ( 30045327 )
2018
28
Testicular cavernous hemangioma associated with testicular torsion - case report and review of literature. ( 30055478 )
2018
29
Female Urethral Cavernous Hemangioma, A Rare Entity: Two Case Reports and Review of The Literature. ( 30058065 )
2018
30
A case of reversible cerebral vasoconstriction syndrome and cavernous hemangioma: just a coincidence? ( 30062645 )
2018
31
Endoscopic Endonasal Resection of Orbital Apex Cavernous Hemangioma: 2-Dimensional Operative Video. ( 30085112 )
2018
32
TMS-induced motor evoked potential in the preliminary diagnosis of intracranial cavernous hemangioma: A case report. ( 30087033 )
2018
33
Spinal intradural extramedullary cavernous hemangioma. ( 30090980 )
2018
34
Three-dimensional laparoscopy-assisted bowel resection for cavernous hemangioma of the rectum: Report of two cases. ( 30094939 )
2018
35
Osseous cavernous hemangioma of the superior orbital rim. ( 30118611 )
2018
36
Rare Case of Dumbbell-Shaped Spinal Cavernous Hemangioma and Literature Review. ( 30213678 )
2018
37
Fluorescein cap: Fluorescein angiographic feature of retinal cavernous hemangioma. ( 30249842 )
2018
38
Optic Disc Deformation and Orbital Bone Erosion Secondary to a Huge Neglected Orbital Cavernous Hemangioma. ( 30277940 )
2018
39
Cavernous Hemangioma of the Small Bowel: A Case Report and Literature Review. ( 30338188 )
2018
40
Lingual cavernous hemangioma in a Nepalese boy-'A Difficult Associate!!!' ( 30370045 )
2018
41
A giant solid cavernous hemangioma mimicking sphenoid wing meningioma in an adolescent: A case report. ( 30383694 )
2018
42
New Interpretation of Multimodality Fundus Imaging for Retinal Cavernous Hemangioma. ( 30433829 )
2018
43
Adrenal cavernous hemangioma: a case report. ( 30458815 )
2018
44
Bilateral Orbital Cavernous Hemangioma. ( 30459900 )
2018
45
Endoscope-Assisted Resection of Intramuscular Cavernous Hemangioma Within the Temporal Muscle. ( 30475294 )
2018
46
Commentary: Endoscopic Endonasal Resection of Orbital Apex Cavernous Hemangioma: 2-Dimensional Operative Video. ( 30496482 )
2018
47
A Rare Scrotal Tumor: Epididymal Cavernous Hemangioma. ( 30533244 )
2018
48
Bladder cavernous hemangioma after pelvic radiotherapy in a female patient: A case report and literature review. ( 30567074 )
2018
49
Epicardial Cavernous Hemangioma: A Diagnostic Challenge. ( 30582087 )
2018
50
Endoscopic Endonasal Surgery for the Resection of a Cavernous Hemangioma with a Sellar Extension. ( 30740283 )
2018

Variations for Cavernous Hemangioma

ClinVar genetic disease variations for Cavernous Hemangioma:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CCM2 NM_031443.3(CCM2): c.354C> G (p.Tyr118Ter) single nucleotide variant Pathogenic rs765548101 GRCh38 Chromosome 7, 45064528: 45064528
2 CCM2 NM_031443.3(CCM2): c.354C> G (p.Tyr118Ter) single nucleotide variant Pathogenic rs765548101 GRCh37 Chromosome 7, 45104127: 45104127
3 PDCD10 NM_145860.1(PDCD10): c.474+5G> A single nucleotide variant Pathogenic/Likely pathogenic rs1553759139 GRCh38 Chromosome 3, 167687610: 167687610
4 PDCD10 NM_145860.1(PDCD10): c.474+5G> A single nucleotide variant Pathogenic/Likely pathogenic rs1553759139 GRCh37 Chromosome 3, 167405398: 167405398
5 KRIT1 NM_004912.4(KRIT1): c.990-1G> A single nucleotide variant Likely pathogenic rs1554518790 GRCh38 Chromosome 7, 92226683: 92226683
6 KRIT1 NM_004912.4(KRIT1): c.990-1G> A single nucleotide variant Likely pathogenic rs1554518790 GRCh37 Chromosome 7, 91855997: 91855997
7 KRIT1 NM_004912.4(KRIT1): c.902C> G (p.Ser301Ter) single nucleotide variant Pathogenic rs1554527169 GRCh38 Chromosome 7, 92234536: 92234536
8 KRIT1 NM_004912.4(KRIT1): c.902C> G (p.Ser301Ter) single nucleotide variant Pathogenic rs1554527169 GRCh37 Chromosome 7, 91863850: 91863850

Expression for Cavernous Hemangioma

Search GEO for disease gene expression data for Cavernous Hemangioma.

Pathways for Cavernous Hemangioma

Pathways related to Cavernous Hemangioma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.08 KDR PDGFRA PECAM1
2 10.7 PDGFRA SYP VIM

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 extracellular exosome GO:0070062 9.61 F2 HSPA5 KRT14 KRT7 MB MUC1
2 intermediate filament GO:0005882 8.92 KRT14 KRT20 KRT7 VIM
3 cytoplasm GO:0005737 10 CCM2 HSPA5 KDR KRIT1 KRT14 KRT20

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.8 F2 KDR PDCD10 PDGFRA XBP1
2 negative regulation of apoptotic process GO:0043066 9.73 HSPA5 KDR PDCD10 XBP1
3 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.5 F2 KDR PDGFRA
4 oxygen transport GO:0015671 9.46 HBG2 MB
5 Leydig cell differentiation GO:0033327 9.37 NKX2-1 PDGFRA
6 angiogenesis GO:0001525 9.35 KDR KRIT1 PDCD10 PECAM1 XBP1
7 ATF6-mediated unfolded protein response GO:0036500 9.26 HSPA5 XBP1
8 negative regulation of platelet activation GO:0010544 9.16 F2 PDGFRA
9 positive regulation of cell migration GO:0030335 9.02 HSPA5 KDR PDCD10 PDGFRA XBP1

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.58 CCM2 F2 HBG2 HSPA5 KDR KRIT1
2 structural constituent of cytoskeleton GO:0005200 9.54 KRT14 KRT20 VIM
3 oxygen carrier activity GO:0005344 9.32 HBG2 MB
4 vascular endothelial growth factor-activated receptor activity GO:0005021 9.26 KDR PDGFRA
5 keratin filament binding GO:1990254 9.16 KRT14 VIM
6 vascular endothelial growth factor binding GO:0038085 8.96 KDR PDGFRA

Sources for Cavernous Hemangioma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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