MCID: CVR006
MIFTS: 48

Cavernous Hemangioma

Categories: Blood diseases, Neuronal diseases

Aliases & Classifications for Cavernous Hemangioma

MalaCards integrated aliases for Cavernous Hemangioma:

Name: Cavernous Hemangioma 12 76 29 6 15
Hemangioma, Cavernous 44 73
Cavernous Haemangioma 12
Cavernomas 54
Cavernoma 12

Classifications:



External Ids:

Disease Ontology 12 DOID:483
ICD10 33 D18.0
MeSH 44 D006392
NCIt 50 C3086
UMLS 73 C0018920

Summaries for Cavernous Hemangioma

NINDS : 54 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 Strawberry and Timolol 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 : 76 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 381)
# Related Disease Score Top Affiliating Genes
1 cerebral cavernous malformations 33.5 CCM2 KDR KRIT1 PDCD10
2 cerebral cavernous malformations 3 32.0 CCM2 KRIT1 PDCD10
3 cerebral cavernous malformations 2 31.9 CCM2 KRIT1 PDCD10
4 hemangioma 31.8 CCM2 KDR KRIT1 NKX2-1 PECAM1 SYP
5 hemangioma of liver 31.1 F2 KRIT1
6 cavernous malformation 30.4 CCM2 KRIT1 PDCD10
7 klippel-trenaunay-weber syndrome 30.3 CCM2 KRIT1 PDCD10
8 secretory meningioma 30.3 KRT7 MUC1 VIM
9 meningioma, familial 30.2 MKI67 PDCD10 SYP
10 ependymoma 30.1 MKI67 MUC1 SYP VIM
11 angiosarcoma 30.1 KDR KIT MUC1 PECAM1 VIM
12 leiomyoma 30.0 KIT MKI67 VIM
13 intrahepatic cholangiocarcinoma 30.0 KRT20 KRT7 MUC1
14 human venous malformation 30.0 CCM2 KRIT1 PDCD10
15 bile duct adenoma 29.9 KRT20 KRT7 MUC1 VIM
16 sarcoma, synovial 29.8 KIT KRT7 MUC1 VIM
17 neurilemmoma 29.8 KIT PDGFRA VIM
18 teratoma 29.7 KIT KRT7 NKX2-1 SYP
19 angiomyoma 29.7 KIT MB SYP
20 neurofibroma 29.6 KIT MUC1 PDGFRA SYP
21 adenoid cystic carcinoma 29.4 KIT KRT20 KRT7 MKI67 MUC1 TP63
22 renal cell carcinoma, nonpapillary 29.3 KDR KIT KRT20 KRT7 MUC1 NKX2-1
23 cavernous hemangioma of colon 12.4
24 diffuse cavernous hemangioma of the rectum 12.3
25 cavernous hemangioma of orbit 12.3
26 supraumbilical midabdominal raphe and facial cavernous hemangiomas 12.3
27 cavernous hemangioma of face 12.2
28 multiple enchondromatosis, maffucci type 11.9
29 intracranial cavernous angioma 11.6
30 capillary hemangioma 11.5
31 dermal unilateral segmental cavernous angioma 11.4
32 cerebral cavernous malformation, familial 11.4
33 hemangiomas, cavernous, of face and supraumbilical midline raphe 11.2
34 hepatocellular carcinoma 10.4
35 acinar cell cystadenocarcinoma 10.3 MKI67 SYP
36 primary hepatic neuroendocrine carcinoma 10.3 SYP VIM
37 ovarian large-cell neuroendocrine carcinoma 10.3 KRT20 SYP
38 adenoma of the pancreas 10.3 KRT20 SYP
39 sensory organ benign neoplasm 10.3 KRT7 SYP
40 mucinous adenofibroma 10.3 KRT7 SYP
41 ossifying fibromyxoid tumor 10.3 MUC1 VIM
42 large intestine adenocarcinoma 10.3 KRT20 KRT7
43 syringocystadenoma papilliferum 10.3 MUC1 VIM
44 seminal vesicle adenocarcinoma 10.3 KRT20 KRT7
45 glandular cystitis 10.3 KRT20 KRT7
46 transverse colon cancer 10.3 KRT20 KRT7
47 fibrous meningioma 10.3 MUC1 VIM
48 malignant peritoneal mesothelioma 10.3 MUC1 VIM
49 appendix adenocarcinoma 10.3 KRT20 KRT7
50 papillary transitional carcinoma 10.3 KRT20 KRT7

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 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.42 CCM2 F2 HSPA5 KDR KIT KRIT1
2 cellular MP:0005384 10.38 CCM2 HSPA5 KDR KIT KRT7 MB
3 homeostasis/metabolism MP:0005376 10.34 CCM2 F2 HSPA5 KDR KIT KRT7
4 behavior/neurological MP:0005386 10.32 CCM2 F2 KDR KIT NKX2-1 PDCD10
5 embryo MP:0005380 10.31 CCM2 F2 HSPA5 KDR KIT KRIT1
6 growth/size/body region MP:0005378 10.3 CCM2 F2 HSPA5 KDR KIT KRIT1
7 mortality/aging MP:0010768 10.27 CCM2 F2 HSPA5 KDR KIT KRIT1
8 hematopoietic system MP:0005397 10.21 CCM2 F2 KDR KIT MB PDCD10
9 integument MP:0010771 10.18 CCM2 F2 HSPA5 KDR KIT KRIT1
10 muscle MP:0005369 10.17 CCM2 KDR KIT KRIT1 MB PDCD10
11 digestive/alimentary MP:0005381 10.15 F2 HSPA5 KIT NKX2-1 PDGFRA PECAM1
12 nervous system MP:0003631 10.15 CCM2 F2 HSPA5 KDR KIT KRIT1
13 craniofacial MP:0005382 10.1 CCM2 HSPA5 KDR KIT KRIT1 PDGFRA
14 normal MP:0002873 10.03 CCM2 F2 HBG2 HSPA5 KDR KIT
15 neoplasm MP:0002006 9.95 HSPA5 KIT KRIT1 NKX2-1 PDCD10 PDGFRA
16 no phenotypic analysis MP:0003012 9.87 HBG2 KDR KIT MKI67 NKX2-1 PDGFRA
17 renal/urinary system MP:0005367 9.7 HSPA5 KIT KRT7 PDCD10 PDGFRA PECAM1
18 respiratory system MP:0005388 9.65 F2 HSPA5 KDR KIT MB NKX2-1
19 vision/eye MP:0005391 9.23 CCM2 KDR KIT KRIT1 PDCD10 TP63

Drugs & Therapeutics for Cavernous Hemangioma

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

(show all 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Strawberry Approved Phase 2
2
Timolol Approved Phase 2 26839-75-8 33624 5478
3
Maleic acid Experimental Phase 2 110-16-7 444266
4 Adrenergic Antagonists Phase 2
5 Anti-Arrhythmia Agents Phase 2
6 Adrenergic beta-Antagonists Phase 2
7 Adrenergic Agents Phase 2
8 Antihypertensive Agents Phase 2
9 Neurotransmitter Agents Phase 2
10 Anticholesteremic Agents Phase 1, Phase 2,Early Phase 1
11 Antimetabolites Phase 1, Phase 2,Early Phase 1
12 Lipid Regulating Agents Phase 1, Phase 2,Early Phase 1
13 Hypolipidemic Agents Phase 1, Phase 2,Early Phase 1
14 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 1, Phase 2,Early Phase 1
15 Atorvastatin Calcium Phase 1, Phase 2 134523-03-8
16 Calcium, Dietary Phase 1, Phase 2
17
Doxycycline Approved, Investigational, Vet_approved Phase 1 564-25-0 54671203
18 Antiparasitic Agents Phase 1
19 Antiprotozoal Agents Phase 1
20 Antimalarials Phase 1
21 Anti-Infective Agents Phase 1
22 Anti-Bacterial Agents Phase 1
23
Simvastatin Approved Early Phase 1 79902-63-9 54454
24 Liver Extracts Not Applicable
25 Hematinics Not Applicable

Interventional clinical trials:


# 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 Influence of MMP on Brain AVM Hemorrhage Completed NCT00783523 Phase 1 Doxycycline or Placebo
5 Cerebral Bases Bodily Representations Unknown status NCT02876016 Not Applicable
6 A Prospective Controlled Study on Treatment of Giant Cavernous Hemangiomas of the Liver Completed NCT01471080 Not Applicable
7 Permeability MRI in Cerebral Cavernous Malformations Type 1 in New Mexico: Effects of Statins Completed NCT01764451 Early Phase 1 Simvastatin
8 CASH (Cavernous Angiomas With Symptomatic Hemorrhage) Trial Readiness Recruiting NCT03652181
9 Modifiers of Disease Severity in Cerebral Cavernous Malformations Recruiting NCT01764529
10 A Prospective Study on the Incidence and Related Risk Factors of Infantile Hemangioma in China Recruiting NCT03173352

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:

41
Liver, Brain, Spinal Cord, Bone, Colon, Adrenal Gland, Smooth Muscle

Publications for Cavernous Hemangioma

Articles related to Cavernous Hemangioma:

(show top 50) (show all 1015)
# Title Authors Year
1
Sudden spinal hemorrhage in a pediatric case with total body irradiation-induced cavernous hemangioma. ( 29797651 )
2018
2
Giant Colonic Cavernous Hemangioma Causing Hematochezia inA a 14-Year-Old Boy. ( 29806995 )
2018
3
Dural Penetration of Cavernous Hemangioma on Skull: Uncommon Clinical Presentation. ( 29109062 )
2018
4
Analysis of the characteristics of optical coherence tomography angiography for retinal cavernous hemangioma: A case report. ( 29443780 )
2018
5
Cavernous hemangioma of the interatrial septum. ( 29629515 )
2018
6
Optic Nerve Meningioma Mimicking Cavernous Hemangioma. ( 29191527 )
2018
7
Letter to the Editor Regarding "Optic Nerve Meningioma Mimicking Cavernous Hemangioma". ( 29499604 )
2018
8
A new surgical technique for excision of orbital cavernous hemangioma: a 15-year experience. ( 29442536 )
2018
9
Endoscopic management of Atypical sellar cavernous hemangioma: A case report and review of the literature. ( 29248833 )
2018
10
Venous Malformation (Cavernous Hemangioma) of the Supraorbital Nerve. ( 29682072 )
2018
11
Cavernous Hemangioma Between the Elastomer and Fibrous Capsule of a Breast Implant. ( 29872905 )
2018
12
RETINAL CAVERNOUS HEMANGIOMA WITH INTRALESIONAL PHLEBOLITHS. ( 29505489 )
2018
13
A Giant Cardiac Cavernous Hemangioma Involving the Left Atrial Roof in an Elderly Woman. ( 29459567 )
2018
14
Multidisciplinary management of an intra-sellar cavernous hemangioma: Case report and review of the literature. ( 29622503 )
2018
15
Orbital Cavernous Hemangioma Causing Spontaneous Compressive Hemorrhage. ( 29419596 )
2018
16
Gastric Cavernous Hemangioma Resected by Endoscopic Submucosal Dissection. ( 29607958 )
2018
17
Multifocal cavernous hemangioma of the jugular foramen: a rare skull base vascular malformation. ( 29979118 )
2018
18
In Response to the Letter to the Editor Regarding "Optic Nerve Meningioma Mimicking Cavernous Hemangioma". ( 29288857 )
2018
19
Cavernous hemangioma of the thymus: A case report and review of the literature. ( 30045327 )
2018
20
Testicular cavernous hemangioma associated with testicular torsion - case report and review of literature. ( 30055478 )
2018
21
Female Urethral Cavernous Hemangioma, A Rare Entity: Two Case Reports and Review of The Literature. ( 30058065 )
2018
22
A case of reversible cerebral vasoconstriction syndrome and cavernous hemangioma: just a coincidence? ( 30062645 )
2018
23
Endoscopic Endonasal Resection of Orbital Apex Cavernous Hemangioma: 2-Dimensional Operative Video. ( 30085112 )
2018
24
TMS-induced motor evoked potential in the preliminary diagnosis of intracranial cavernous hemangioma: A case report. ( 30087033 )
2018
25
Spinal intradural extramedullary cavernous hemangioma. ( 30090980 )
2018
26
Three-dimensional laparoscopy-assisted bowel resection for cavernous hemangioma of the rectum: Report of two cases. ( 30094939 )
2018
27
Osseous cavernous hemangioma of the superior orbital rim. ( 30118611 )
2018
28
Rare Case of Dumbbell-Shaped Spinal Cavernous Hemangioma and Literature Review. ( 30213678 )
2018
29
Fluorescein cap: Fluorescein angiographic feature of retinal cavernous hemangioma. ( 30249842 )
2018
30
Optic Disc Deformation and Orbital Bone Erosion Secondary to a Huge Neglected Orbital Cavernous Hemangioma. ( 30277940 )
2018
31
Cavernous Hemangioma of the Small Bowel: A Case Report and Literature Review. ( 30338188 )
2018
32
Lingual cavernous hemangioma in a Nepalese boy-'A Difficult Associate!!!' ( 30370045 )
2018
33
A giant solid cavernous hemangioma mimicking sphenoid wing meningioma in an adolescent: A case report. ( 30383694 )
2018
34
New Interpretation of Multimodality Fundus Imaging for Retinal Cavernous Hemangioma. ( 30433829 )
2018
35
Adrenal cavernous hemangioma: a case report. ( 30458815 )
2018
36
Bilateral Orbital Cavernous Hemangioma. ( 30459900 )
2018
37
Endoscope-Assisted Resection of Intramuscular Cavernous Hemangioma Within the Temporal Muscle. ( 30475294 )
2018
38
Commentary: Endoscopic Endonasal Resection of Orbital Apex Cavernous Hemangioma: 2-Dimensional Operative Video. ( 30496482 )
2018
39
A Rare Scrotal Tumor: Epididymal Cavernous Hemangioma. ( 30533244 )
2018
40
Nasal Septal Cavernous Hemangioma. ( 29215446 )
2017
41
Spinal Epidural Cavernous Hemangioma: A Clinical Series of 7 Patients. ( 29248776 )
2017
42
The application of technetium-99m-red blood cell scintigraphy in the diagnosis of orbital cavernous hemangioma. ( 28692493 )
2017
43
Lymphocyte-rich capillary-cavernous hemangioma of the mitral valve: a case report and review of the literature. ( 28334596 )
2017
44
A Case of Retinal Cavernous Hemangioma Diagnosed with Spectral Domain Optical Coherence Tomography. ( 28534341 )
2017
45
Giant Cavernous Hemangioma of the Adrenal Gland in an Elderly Patient. ( 29279502 )
2017
46
Median Nerve Cavernous Hemangioma. ( 28781733 )
2017
47
A primary cavernous hemangioma of the thyroid gland: A case report and literature review. ( 29245224 )
2017
48
Quantitative evaluation of Gd-EOB-DTPA uptake in focal liver lesions by using T1 mapping: differences between hepatocellular carcinoma, hepatic focal nodular hyperplasia and cavernous hemangioma. ( 29029443 )
2017
49
Mixed Lymphangioma and Cavernous Hemangioma Within the Ulnar Nerve: A Case Report. ( 28391718 )
2017
50
Genital tract cavernous hemangioma as a rare cause of postpartum hemorrhage. ( 28989925 )
2017

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 GRCh38 Chromosome 3, 167687610: 167687610
4 PDCD10 NM_145860.1(PDCD10): c.474+5G> A single nucleotide variant Pathogenic/Likely pathogenic GRCh37 Chromosome 3, 167405398: 167405398
5 KRIT1 NM_004912.4(KRIT1): c.990-1G> A single nucleotide variant Likely pathogenic GRCh38 Chromosome 7, 92226683: 92226683
6 KRIT1 NM_004912.4(KRIT1): c.990-1G> A single nucleotide variant Likely pathogenic GRCh37 Chromosome 7, 91855997: 91855997
7 KRIT1 NM_004912.4(KRIT1): c.902C> G (p.Ser301Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 7, 92234536: 92234536
8 KRIT1 NM_004912.4(KRIT1): c.902C> G (p.Ser301Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 7, 91863850: 91863850

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 cytoplasm GO:0005737 9.47 CCM2 HSPA5 KDR KIT KRIT1 KRT20

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.8 HSPA5 KDR KIT PDCD10 PDGFRA XBP1
2 positive regulation of cell proliferation GO:0008284 9.73 F2 KDR KIT PDCD10 PDGFRA XBP1
3 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.67 KDR KIT PDGFRA
4 angiogenesis GO:0001525 9.55 KDR KRIT1 PDCD10 PECAM1 XBP1
5 positive regulation of Notch signaling pathway GO:0045747 9.54 KIT PDCD10 TP63
6 positive regulation of phospholipase C activity GO:0010863 9.48 KIT PDGFRA
7 Leydig cell differentiation GO:0033327 9.46 NKX2-1 PDGFRA
8 ATF6-mediated unfolded protein response GO:0036500 9.43 HSPA5 XBP1
9 negative regulation of platelet activation GO:0010544 9.4 F2 PDGFRA
10 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.26 F2 KDR KIT PDGFRA
11 positive regulation of cell migration GO:0030335 9.1 HSPA5 KDR KIT 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 KIT
2 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.33 KDR KIT PDGFRA
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 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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