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 hemangioma. An important gene associated with Cavernous Hemangioma is KRIT1 (KRIT1, Ankyrin Repeat Containing), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Cytoskeleton remodeling Neurofilaments. The drugs Timolol and Strawberry have been mentioned in the context of this disorder. Affiliated tissues include brain, liver and spinal cord, and related phenotypes are cardiovascular system and embryo

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 242)
# Related Disease Score Top Affiliating Genes
1 cerebral cavernous malformations 33.3 CCM2 KDR KRIT1 PDCD10
2 hemangioma 32.6 CCM2 KDR KRIT1
3 cerebral cavernous malformations 3 32.2 CCM2 KRIT1 PDCD10
4 cerebral cavernous malformations 2 32.1 CCM2 KRIT1 PDCD10
5 hemangioma of liver 31.4 F2 KRIT1
6 biphasic synovial sarcoma 30.6 MUC1 VIM
7 cavernous malformation 30.5 CCM2 KRIT1 PDCD10
8 klippel-trenaunay-weber syndrome 30.5 CCM2 KRIT1 PDCD10
9 leiomyoma 29.7 KIT MKI67 VIM
10 sarcoma, synovial 29.6 KIT MUC1 VIM
11 angiosarcoma 29.5 KDR KIT MUC1 VIM
12 renal cell carcinoma, nonpapillary 29.1 KDR KIT MUC1 VIM
13 angiomyoma 28.6 KIT MB SYP
14 cavernous hemangioma of colon 12.3
15 diffuse cavernous hemangioma of the rectum 12.2
16 cavernous hemangioma of orbit 12.2
17 supraumbilical midabdominal raphe and facial cavernous hemangiomas 12.2
18 cavernous hemangioma of face 12.0
19 multiple enchondromatosis, maffucci type 11.8
20 intracranial cavernous angioma 11.4
21 capillary hemangioma 11.4
22 dermal unilateral segmental cavernous angioma 11.3
23 hemangiomas, cavernous, of face and supraumbilical midline raphe 11.1
24 cerebral cavernous malformation, familial 11.1
25 malignant peritoneal mesothelioma 10.7 MUC1 VIM
26 parachordoma 10.7 MUC1 VIM
27 ossifying fibromyxoid tumor 10.7 MUC1 VIM
28 fibrous meningioma 10.7 MUC1 VIM
29 nodular hidradenoma 10.7 MUC1 VIM
30 syringocystadenoma papilliferum 10.7 MUC1 VIM
31 acinar cell cystadenocarcinoma 10.7 MKI67 SYP
32 eccrine porocarcinoma 10.7 MUC1 VIM
33 adenofibroma 10.7 MUC1 VIM
34 primary hepatic neuroendocrine carcinoma 10.6 SYP VIM
35 myxopapillary ependymoma 10.6 MUC1 VIM
36 rhabdoid meningioma 10.6 SYP VIM
37 monophasic synovial sarcoma 10.6 MUC1 VIM
38 endometrial mucinous adenocarcinoma 10.6 MKI67 MUC1 VIM
39 middle ear adenoma 10.6 MUC1 SYP
40 malignant fibroxanthoma 10.5 MKI67 MUC1 VIM
41 astroblastoma 10.5 SYP VIM
42 pleomorphic liposarcoma 10.5 MUC1 VIM
43 hepatitis 10.5
44 ovarian small cell carcinoma 10.5 MUC1 SYP
45 melanotic neuroectodermal tumor 10.5 SYP VIM
46 hidradenocarcinoma 10.5 MKI67 TP63 VIM
47 angiocentric glioma 10.5 SYP VIM
48 metanephric adenoma 10.5 KRT18 VIM
49 medulloepithelioma 10.4 SYP VIM
50 retinitis 10.4

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 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.29 KIT HSPA5 CCM2 KDR F2 MB
2 embryo MP:0005380 10.29 HSPA5 CCM2 KDR F2 KIT KRT18
3 growth/size/body region MP:0005378 10.27 HSPA5 CCM2 KDR F2 KIT KRT18
4 cellular MP:0005384 10.24 HSPA5 CCM2 KDR KRT14 KIT MB
5 mortality/aging MP:0010768 10.22 HSPA5 CCM2 KDR F2 KIT KRT18
6 behavior/neurological MP:0005386 10.21 CCM2 KDR F2 PDCD10 KIT XBP1
7 hematopoietic system MP:0005397 10.13 CCM2 KDR F2 PDCD10 KRT14 KIT
8 integument MP:0010771 10.13 HSPA5 CCM2 KDR F2 KIT KRIT1
9 immune system MP:0005387 10.11 CCM2 KDR F2 KRT14 KIT XBP1
10 craniofacial MP:0005382 10.07 HSPA5 CCM2 KDR KRT14 KIT KRIT1
11 muscle MP:0005369 10.02 KIT CCM2 KDR MB KRIT1 PDCD10
12 nervous system MP:0003631 9.96 HSPA5 CCM2 KDR F2 KIT KRIT1
13 normal MP:0002873 9.81 HSPA5 CCM2 KDR F2 KIT MKI67
14 neoplasm MP:0002006 9.8 HSPA5 KRT14 KIT KRIT1 PDCD10 TP63
15 respiratory system MP:0005388 9.56 HSPA5 KDR F2 KRT14 KIT MB
16 vision/eye MP:0005391 9.28 KIT CCM2 KDR KRIT1 PDCD10 KRT14

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
Timolol Approved Phase 2 26839-75-8 33624 5478
2 Strawberry Approved, Nutraceutical Phase 2
3
Maleic acid Experimental Phase 2 110-16-7 444266
4 Adrenergic Agents Phase 2
5 Adrenergic Antagonists Phase 2
6 Adrenergic beta-Antagonists Phase 2
7 Neurotransmitter Agents Phase 2
8 Anti-Arrhythmia Agents Phase 2
9 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 1, Phase 2,Early Phase 1
10 Hypolipidemic Agents Phase 1, Phase 2,Early Phase 1
11 Antihypertensive Agents Phase 2
12 Anticholesteremic Agents Phase 1, Phase 2,Early Phase 1
13 Lipid Regulating Agents Phase 1, Phase 2,Early Phase 1
14 Antimetabolites 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 Anti-Bacterial Agents Phase 1
19 Anti-Infective Agents Phase 1
20 Antiparasitic Agents Phase 1
21 Antiprotozoal Agents Phase 1
22 Antimalarials Phase 1
23
Simvastatin Approved Early Phase 1 79902-63-9 54454
24 Hematinics Not Applicable
25 Liver Extracts 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 Not yet recruiting NCT02603328 Phase 1, Phase 2 Atorvastatin
4 Influence of MMP on Brain AVM Hemorrhage Completed NCT00783523 Phase 1 Doxycycline or Placebo
5 A Prospective Controlled Study on Treatment of Giant Cavernous Hemangiomas of the Liver Completed NCT01471080 Not Applicable
6 Permeability MRI in Cerebral Cavernous Malformations Type 1 in New Mexico: Effects of Statins Completed NCT01764451 Early Phase 1 Simvastatin
7 Modifiers of Disease Severity in Cerebral Cavernous Malformations Recruiting NCT01764529
8 A Prospective Study on the Incidence and Related Risk Factors of Infantile Hemangioma in China Recruiting NCT03173352
9 Cerebral Bases Bodily Representations Not yet recruiting NCT02876016 Not Applicable

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
Brain, Liver, Spinal Cord, Bone, Colon, Smooth Muscle, Thyroid

Publications for Cavernous Hemangioma

Articles related to Cavernous Hemangioma:

(show top 50) (show all 688)
# 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
A new surgical technique for excision of orbital cavernous hemangioma: a 15-year experience. ( 29442536 )
2018
8
Risk factors for hemoglobinuria after ultrasonography-guided percutaneous microwave ablation for large hepatic cavernous hemangiomas. ( 29876018 )
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
Nasal Septal Cavernous Hemangioma. ( 29215446 )
2017
19
Spinal Epidural Cavernous Hemangioma: A Clinical Series of 7 Patients. ( 29248776 )
2017
20
The application of technetium-99m-red blood cell scintigraphy in the diagnosis of orbital cavernous hemangioma. ( 28692493 )
2017
21
Lymphocyte-rich capillary-cavernous hemangioma of the mitral valve: a case report and review of the literature. ( 28334596 )
2017
22
A Case of Retinal Cavernous Hemangioma Diagnosed with Spectral Domain Optical Coherence Tomography. ( 28534341 )
2017
23
Giant Cavernous Hemangioma of the Adrenal Gland in an Elderly Patient. ( 29279502 )
2017
24
Median Nerve Cavernous Hemangioma. ( 28781733 )
2017
25
A primary cavernous hemangioma of the thyroid gland: A case report and literature review. ( 29245224 )
2017
26
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
27
Mixed Lymphangioma and Cavernous Hemangioma Within the Ulnar Nerve: A Case Report. ( 28391718 )
2017
28
Genital tract cavernous hemangioma as a rare cause of postpartum hemorrhage. ( 28989925 )
2017
29
Intrasellar cavernous hemangioma presenting as pituitary adenoma: A report of two cases and review of the literature. ( 29189199 )
2017
30
Practical Lessons from the Small Bowel Bleeding Lesions: A Case Report on Small Bowel Cavernous Hemangioma. ( 28293061 )
2017
31
Spinal epidural cavernous hemangioma: case report. ( 28637111 )
2017
32
Cavernous hemangioma of the orbit: an unusual acute presentation. ( 28769595 )
2017
33
A rare case of important and recurrent abnormal uterine bleeding in a post partum woman caused by cavernous hemangioma: a case report and review of literature. ( 29515748 )
2017
34
Sudden death in a child caused by a giant cavernous hemangioma of the anterior mediastinum. ( 28886433 )
2017
35
A case of diffuse cavernous hemangioma of the appendix: laparoscopic surgery can facilitate diagnosis and treatment. ( 28054281 )
2017
36
Cavernous Hemangioma of the Auricle. ( 29056137 )
2017
37
Optical coherence tomography angiography in retinal cavernous hemangioma. ( 29259920 )
2017
38
A Giant Cavernous Hemangioma of the Left Atrioventricular Groove. ( 28409047 )
2017
39
Intramuscular Cavernous Hemangioma of Medial Rectus Muscle in Paediatric Age Group. ( 28386496 )
2017
40
Optimal Timing of Surgery for Intramedullary Cavernous Hemangioma of the Spinal Cord in Relation to Preoperative Motor Paresis, Disease Duration, and Tumor Volume and Location. ( 28660107 )
2017
41
Dynamic Contrast-Enhanced Magnetic Resonance Imaging in Diagnosis of Cavernous Hemangioma of Cavernous Sinus. ( 28479824 )
2017
42
Optical Coherence Tomography Angiography of Retinal Cavernous Hemangioma. ( 28810047 )
2017
43
Dural-based giant cavernous hemangioma mimicking a meningioma: Lessons learnt. ( 28879931 )
2017
44
Teaching Neuroimages: "Filling out" in Cavernous Hemangioma of the Cavernous Sinus. ( 28721610 )
2017
45
The Art of Mimicry: Anterior Clinoid Dural-Based Cavernous Hemangioma Mistaken for a Meningioma. ( 28214640 )
2017
46
Optical Coherence Tomography Angiography of Retinal Cavernous Hemangioma. ( 28423387 )
2017
47
An Unusual Differential Diagnosis of Orbital Cavernous Hemangioma: Ancient Schwannoma. ( 28626414 )
2017
48
Transanal total mesorectal excision as a surgical procedure for diffuse cavernous hemangioma of the rectum: A case report. ( 28846947 )
2017
49
Differentiating Optic Meningioma from Cavernous Hemangioma Using Multiparametric Magnetic Resonance Imaging. ( 29288857 )
2017
50
Ultrasound Diagnosis of Scrotal Wall Cavernous Hemangioma. ( 27981934 )
2016

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

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

# Super pathways Score Top Affiliating Genes
1 11.26 KDR TP63 VIM
2
Show member pathways
10.83 KRT14 KRT18 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 cytoplasm GO:0005737 9.4 CCM2 HSPA5 KDR KIT KRIT1 KRT14

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

# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.95 CCM2 F2 KDR KIT TP63 XBP1
2 positive regulation of cell proliferation GO:0008284 9.8 F2 KDR KIT PDCD10 XBP1
3 angiogenesis GO:0001525 9.62 KDR KRIT1 PDCD10 XBP1
4 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.46 MUC1 TP63
5 embryonic hemopoiesis GO:0035162 9.43 KDR KIT
6 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.43 F2 KDR KIT
7 ATF6-mediated unfolded protein response GO:0036500 9.37 HSPA5 XBP1
8 positive regulation of cell migration GO:0030335 9.35 HSPA5 KDR KIT PDCD10 XBP1
9 positive regulation of Notch signaling pathway GO:0045747 9.33 KIT PDCD10 TP63
10 negative regulation of apoptotic process GO:0043066 9.17 HSPA5 KDR KIT KRT18 PDCD10 TP63

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

# Name GO ID Score Top Affiliating Genes
1 obsolete signal transducer, downstream of receptor, with protein tyrosine kinase activity GO:0004716 8.96 KDR KIT
2 keratin filament binding GO:1990254 8.62 KRT14 VIM

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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