Aliases & Classifications for Angiomatosis

MalaCards integrated aliases for Angiomatosis:

Name: Angiomatosis 50 51 69

External Ids:

UMLS 69 C0002992

Summaries for Angiomatosis

NINDS : 50 Von Hippel-Lindau disease (VHL) is a rare, genetic multi-system disorder in which non-cancerous tumors grow in certain parts of the body. Slow-growing hemgioblastomas -- benign tumors with many blood vessels -- may develop in the brain, spinal cord, the retinas of the eyes, and near the inner ear. Cysts (fluid-filled sacs) may develop around the hemangioblastomas. Other types of tumors develop in the adrenal glands, the kidneys, or the pancreas. Symptoms of VHL vary among individuals and depend on the size and location of the tumors. Symptoms may include headaches, problems with balance and walking, dizziness, weakness of the limbs, vision problems, deafness in one ear, and high blood pressure. Individuals with VHL are also at a higher risk than normal for certain types of cancer, especially kidney cancer.

MalaCards based summary : Angiomatosis is related to von hippel-lindau syndrome and neurofibromatosis, type iv, of riccardi. An important gene associated with Angiomatosis is VHL (Von Hippel-Lindau Tumor Suppressor), and among its related pathways/superpathways is Translation Translation regulation by Alpha-1 adrenergic receptors. The drugs Miconazole and Everolimus have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and kidney, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Wikipedia : 72 Angiomatosis is a non-neoplastic condition characterised by nests of proliferating capillaries arranged... more...

Related Diseases for Angiomatosis

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

(show top 50) (show all 150)
# Related Disease Score Top Affiliating Genes
1 von hippel-lindau syndrome 31.9 TSC2 VHL
2 neurofibromatosis, type iv, of riccardi 29.2 TSC2 VHL
3 tuberous sclerosis 1 29.2 CCL26 TSC2
4 congenital heart defects, hamartomas of tongue, and polysyndactyly 29.2 CCL26 TSC2
5 tuberous sclerosis 28.7 CCL26 TSC2 VHL
6 bacillary angiomatosis 12.4
7 diffuse dermal angiomatosis 12.3
8 sturge-weber syndrome 12.1
9 skeletal-extraskeletal angiomatosis 12.0
10 familial capillaro-venous leptomeningeal angiomatosis 12.0
11 breast angiomatosis 12.0
12 angiomatosis, diffuse corticomeningeal, of divry and van bogaert 11.9
13 angiomatosis, leptomeningeal capillary venous 11.9
14 cystic angiomatosis of bone, diffuse 11.8
15 cobb syndrome 11.3
16 bartonellosis 11.2
17 gorham's disease 11.2
18 encephalocraniocutaneous lipomatosis 10.9
19 autism with port-wine stain 10.9
20 multifocal lymphangioendotheliomatosis with thrombocytopenia 10.8
21 multiple enchondromatosis, maffucci type 10.8
22 retinitis 10.3
23 weber syndrome 10.2
24 sarcoma 10.2
25 cat-scratch disease 10.1
26 acquired immunodeficiency syndrome 10.1
27 cerebritis 10.0
28 thrombocytopenia 10.0
29 mediastinitis 10.0
30 leukemia 10.0
31 meningitis 10.0
32 hepatitis 9.9
33 endotheliitis 9.9
34 leukemia, chronic lymphocytic 2 9.9
35 leukemia, b-cell, chronic 9.9
36 bacteremia 2 9.9
37 leukemia, chronic lymphocytic 9.9
38 angiomyolipoma 9.8 CCL26 TSC2
39 graft-versus-host disease 9.8
40 calciphylaxis 9.8
41 pyogenic granuloma 9.8
42 pancreatitis 9.8
43 kaposi sarcoma 9.8
44 cervicitis 9.8
45 klippel-trenaunay-weber syndrome 9.8
46 small cell cancer of the lung 9.7
47 lymphangiomatosis 9.7
48 neuropathy 9.7
49 peliosis hepatis 9.7
50 angiosarcoma 9.7

Graphical network of the top 20 diseases related to Angiomatosis:



Diseases related to Angiomatosis

Symptoms & Phenotypes for Angiomatosis

GenomeRNAi Phenotypes related to Angiomatosis according to GeneCards Suite gene sharing:

25 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.53 TSC2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.53 PLAG1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.53 TSC2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.53 TSC2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.53 PLAG1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-159 9.53 VHL
7 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.53 TSC2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.53 VHL
9 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.53 VHL PLAG1 TSC2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.53 PLAG1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.53 PLAG1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.53 VHL
13 Increased shRNA abundance (Z-score > 2) GR00366-A-92 9.53 TSC2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.53 PLAG1

MGI Mouse Phenotypes related to Angiomatosis:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 8.92 DLK1 PLAG1 TSC2 VHL

Drugs & Therapeutics for Angiomatosis

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

(show all 43)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3 22916-47-8 4189
2
Everolimus Approved Phase 2, Phase 3 159351-69-6 6442177
3
Sirolimus Approved, Investigational Phase 2, Phase 3 53123-88-9 46835353 6436030 5284616
4 Anti-Bacterial Agents Phase 2, Phase 3
5 Anti-Infective Agents Phase 2, Phase 3
6 Antifungal Agents Phase 2, Phase 3
7 Immunosuppressive Agents Phase 2, Phase 3
8 Antibiotics, Antitubercular Phase 2, Phase 3
9 Pharmaceutical Solutions Phase 2, Phase 3,Phase 1
10
Sunitinib Approved, Investigational Phase 2,Phase 1 341031-54-7, 557795-19-4 5329102
11
Ranibizumab Approved Phase 1, Phase 2 347396-82-1 459903
12
Somatostatin Approved, Investigational Phase 2 38916-34-6, 51110-01-1 53481605
13
Pancrelipase Approved, Investigational Phase 2 53608-75-6
14
Vatalanib Investigational Phase 2 212141-54-3 151194
15 Fluorodeoxyglucose F18 Phase 2
16 Angiogenesis Inhibitors Phase 2,Phase 1,Early Phase 1
17 Angiogenesis Modulating Agents Phase 2,Phase 1,Early Phase 1
18 Protein Kinase Inhibitors Phase 2
19 Radiopharmaceuticals Phase 2
20 Anticonvulsants Phase 1, Phase 2
21 pancreatin Phase 2
22 histidine Nutraceutical Phase 1, Phase 2
23
Bevacizumab Approved, Investigational Phase 1,Early Phase 1 216974-75-3
24
Timolol Approved Phase 1 26839-75-8 5478 33624
25
Vorinostat Approved, Investigational Phase 1 149647-78-9 5311
26
Maleic acid Experimental Phase 1 110-16-7 444266
27 Antibodies, Monoclonal Phase 1
28 Immunoglobulins Phase 1
29 Antibodies Phase 1
30 Adrenergic Agents Phase 1
31 Adrenergic Antagonists Phase 1
32 Adrenergic beta-Antagonists Phase 1
33 Tetrahydrozoline Phase 1
34 Neurotransmitter Agents Phase 1
35 Ophthalmic Solutions Phase 1
36 Anti-Arrhythmia Agents Phase 1
37 Antihypertensive Agents Phase 1
38 Lubricant Eye Drops Phase 1
39 Histone Deacetylase Inhibitors Phase 1
40 Mitogens
41 Dermatologic Agents
42 Endothelial Growth Factors
43 GTPase-Activating Proteins

Interventional clinical trials:

(show all 44)

# Name Status NCT ID Phase Drugs
1 Trial of Sirolimus for Cognitive Impairment in Sturge-Weber Syndrome Recruiting NCT03047980 Phase 2, Phase 3 Sirolimus
2 Use of Tracking Devices to Locate Abnormalities During Invasive Procedures Recruiting NCT00102544 Phase 3
3 Study of Sunitinib in Patients With Von Hippel-Lindau (VHL) Disease Completed NCT01168440 Phase 2 Sunitinib
4 Efficacy and Safety Study of Topical Rapamycin Associated With Pulsed Dye Laser in Patients With Sturge-Weber Syndrome Completed NCT02080624 Phase 2 Drug: Topical Rapamycin
5 Treatment of Exudative and Vasogenic Chorioretinal Diseases Including Variants of AMD and Other CNV Related Maculopathy Completed NCT00470977 Phase 1, Phase 2 ranibizumab injection (0.5 mg)
6 Treatment of Von Hippel-Lindau (VHL)-Related Hemangioblastoma With PTK787/ZK 222584 Completed NCT00052013 Phase 2 PTK787/ZK 222584
7 Phase II Study of Vandetanib in Individuals With Kidney Cancer Completed NCT00566995 Phase 2 ZACTIMA (Vandetanib) (ZD6474)
8 17AAG to Treat Kidney Tumors in Von Hippel-Lindau Disease Completed NCT00088374 Phase 2 17 allylamino-17-demethoxygeldanamycin;18 FDG (Fludeoxyglucose 18F);[15-O] H2O;EPL diluent
9 A Phase I/II Trial for Intravitreous Treatment of Severe Ocular Von Hippel-Lindau Disease Using a Combination of the PDGF Antagonist E10030 and the VEGF Antagonist Ranibizumab Recruiting NCT02859441 Phase 1, Phase 2 Ranibizumab;E10030
10 PT2385 for the Treatment of Von Hippel-Lindau Disease-Associated Clear Cell Renal Cell Carcinoma Active, not recruiting NCT03108066 Phase 2 PT2385 Tablets
11 Cannabidiol Expanded Access Study in Medically Refractory Sturge-Weber Syndrome Active, not recruiting NCT02332655 Phase 1, Phase 2 Cannabidiol
12 Pazopanib in Von Hippel-Lindau (VHL) Syndrome Active, not recruiting NCT01436227 Phase 2 Pazopanib
13 Evaluation of 68Gallium-DOTATATE PET/CT for Detecting Neuroendocrine Tumors Active, not recruiting NCT01967537 Phase 2 68Gallium DOTATATE
14 A Phase 2 Study of PT2977 for the Treatment of Von Hippel Lindau Disease-Associated Renal Cell Carcinoma Not yet recruiting NCT03401788 Phase 2 PT2977
15 TKI 258 in Von Hippel-Lindau Syndrome (VHL) Terminated NCT01266070 Phase 2 Dovitinib
16 Sunitinib Malate to Treat Advanced Eye Disease in Patients With Von Hippel-Lindau Syndrome Terminated NCT00673816 Phase 1, Phase 2 Sunitinib Malate
17 Evaluation of Sunitinib Malate in Patients With Von Hippel-Lindau Syndrome (VHL) Who Have VHL Lesions to Follow Terminated NCT00330564 Phase 2 SU011248
18 Adjunctive Everolimus (RAD 001) Therapy for Epilepsy in Children With Sturge-Weber Syndrome (SWS) Withdrawn NCT01997255 Phase 2 Everolimus
19 EYE001 to Treat Retinal Tumors in Patients With Von Hippel-Lindau Syndrome Completed NCT00056199 Phase 1 EYE001
20 Use of the Atkins Diet for Children With Sturge Weber Syndrome Completed NCT00639730 Phase 1
21 Ranibizumab Injections to Treat Retinal Tumors in Patients With Von Hippel-Lindau Syndrome Completed NCT00089765 Phase 1 Ranibizumab
22 Treatment of Port-wine Mark in Sturge-Weber Syndrome Using Topical Timolol Recruiting NCT01533376 Phase 1 Timolol;Preservative free artificial tear gel.
23 Effect of Vorinostat on Nervous System Hemangioblastomas in Von Hippel-Lindau Disease (Missense Mutation Only) Enrolling by invitation NCT02108002 Phase 1 Vorinostat
24 Assessment of Residual VHL Function in Tumors - Can it Predict the Patients' Individual Course of Disease? Unknown status NCT02207686
25 Psychosocial Consequences of the Screening of Von Hippel Lindau Diseases for Patients Operated for a hémangioblastoma of Nervous Centrasl System Unknown status NCT02120040
26 Incidence of Hepatic Hemangiomatosis in Patients With Cutaneous Hemangiomas Completed NCT00374335
27 Hemangioma Associated With High Rates of Morbidity Completed NCT00394888
28 Natural History and Management of Pancreatic Lesions in Von Hippel-Lindau Disease Completed NCT00062166
29 Biomarker Development in Sturge-Weber Syndrome Completed NCT01345305
30 Visualizing Vascular Endothelial Growth Factor (VEGF) Producing Lesions in Von Hippel-Lindau Disease Completed NCT00970970
31 Incidence of Ocular Antibodies in Patients With Sturge - Weber Syndrome (SWS) Completed NCT00610402
32 Genetic Study to Identify Gene Mutations in Participants Previously Enrolled in Clinical Trial NCI-99-C-0053 Who Have Von Hippel-Lindau Syndrome or Are at Risk for Von Hippel-Lindau Syndrome Completed NCT00075348
33 Endolymphatic Sac Tumors in a Population of Patients With Von Hippel-Lindau Disease:The Natural History and Pathobiology, and a Prospective Non-Randomized Clinical Trial of Hearing Preservation Surgery in Patients With Early Stage Endolymphatic Sac Tumors Completed NCT00001668
34 Registry for Vascular Anomalies Associated With Coagulopathy Recruiting NCT00576888
35 Screening for Endolymphatic Sac Tumours (ELSTs) in Von Hippel-Lindau (vHL) Patients Recruiting NCT02420067
36 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
37 Identification of Biomarkers for Patients With Vascular Anomalies Recruiting NCT03001180
38 Lymphatic Anomalies Registry Recruiting NCT02399527
39 National Eye Institute Biorepository for Retinal Diseases Recruiting NCT01496625
40 Innovative Approaches to Gauge Progression of Sturge-Weber Syndrome Recruiting NCT01425944
41 French National Cohort of Children With Port Wine Stain Active, not recruiting NCT01364857
42 Study of Brain and Spinal Cord Tumor Growth and Cyst Development in Patients With Von Hippel Lindau Disease Active, not recruiting NCT00005902
43 Von Hippel-Lindau Disease Genetic Epidemiology Study Active, not recruiting NCT00001803
44 Bevacizumab (Avastin) in Unresectable/Recurrent Hemangioblastoma From Von-Hippel-Lindau Disease Terminated NCT01015300 Early Phase 1 Avastin

Search NIH Clinical Center for Angiomatosis

Genetic Tests for Angiomatosis

Anatomical Context for Angiomatosis

MalaCards organs/tissues related to Angiomatosis:

38
Retina, Eye, Kidney, Brain, Spinal Cord, Bone, Pancreas

Publications for Angiomatosis

Articles related to Angiomatosis:

(show top 50) (show all 567)
# Title Authors Year
1
Angiomatosis of the Orbit: Clinical, Imaging, and Histologic Findings. ( 29342032 )
2018
2
NHLRC2 variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA): characterisation of a novel cerebropulmonary disease. ( 29423877 )
2018
3
Focal angiomatosis of the breast with MRI and histologic features. ( 28491155 )
2017
4
Solitary mediastinal angiomatosis: report of two cases and review of the literature. ( 29256416 )
2017
5
Diffuse dermal angiomatosis mimicking inflammatory breast carcinoma. ( 28744985 )
2017
6
Cervicothoracic cutaneomeningospinal angiomatosis in adults (Cobb's syndrome): A case report of acute quadriparesis. ( 28791190 )
2017
7
Intracranial Complications From Temporal Bone Cystic Angiomatosis. ( 27918367 )
2017
8
Diffuse Dermal Angiomatosis of the Breast: A Distinct Entity in the Spectrum of Cutaneous Reactive Angiomatoses - Clinicopathologic Study of Two Cases and Comprehensive Review of the Literature. ( 29282392 )
2017
9
Angiomatosis of the uterus, cervix and fallopian tubes: a rare and benign cause of intractable, heavy menstrual bleeding. ( 29197842 )
2017
10
Feline vertebral angiomatosis: two cases. ( 29276623 )
2017
11
Systemic Cystic Angiomatosis Mimicking Metastatic Cancer: A Case Report and Review of the Literature. ( 29085430 )
2017
12
Delayed Appearance of Cutaneous Lesions of Cutaneovisceral Angiomatosis (CAT) Leading to Misdiagnosis of Immune Thrombocytopenia. ( 28234740 )
2017
13
Angiomatosis, Bacillary ( 28846267 )
2017
14
A case of suspected diffuse dermal angiomatosis associated with severe atherosclerosis. ( 28466447 )
2017
15
Diffuse angiomatosis with severe facial disfigurement. ( 28052359 )
2017
16
Angiomatosis of soft tissue as an important differential diagnosis for intramuscular venous malformations. ( 27688038 )
2017
17
An unusual case of bacillary angiomatosis in the oral cavity of an AIDS patient who had no concomitant tegumentary lesions - case report and review. ( 28902296 )
2017
18
Obscure Overt Gastrointestinal Bleeding Due To Isolated Small Bowel Angiomatosis. ( 27144197 )
2016
19
Breast nodularity and ulceration: diffuse dermal angiomatosis a corticosteroid responsive disease. ( 28329566 )
2016
20
Angiomatosis dAcrmica difusa de la mama: aportaciA^n de un nuevo caso en paciente no fumadora. ( 27617469 )
2016
21
Dumbbell-Mimicked Mediastinal Angiomatosis. ( 27847080 )
2016
22
Bacillary angiomatosis presenting with polymorphic skin lesions. ( 27752473 )
2016
23
Diffuse Dermal Angiomatosis of the Breast With an Apparent Etiology of Underlying Calcified Thrombosed Artery With Adjacent Fat Necrosis. ( 27097335 )
2016
24
Disseminated Skeletal Angiomatosis Initially Misdiagnosed As Metastatic Tumor: A Case Report. ( 28974963 )
2016
25
Bacillary angiomatosis with bone invasion. ( 28099606 )
2016
26
Persistent cutaneous abdominal ulcerations secondary to diffuse dermal angiomatosis: an underestimated sign for severe atherosclerosis: A case report. ( 27442644 )
2016
27
Successful treatment of bacillary angiomatosis with oral doxycycline in an HIV-infected child with skin lesions mimicking Kaposi sarcoma. ( 27051835 )
2016
28
Endothelial chimerism in chronic sclerotic-type chronic Graft-versus-Host disease and GVHD-associated angiomatosis. ( 26875995 )
2016
29
Graft-versus-host Disease-associated Angiomatosis Treated With Topical Timolol Solution. ( 27191176 )
2016
30
Bacillary angiomatosis presenting with facial tumor and multiple abscesses: A case report. ( 27428207 )
2016
31
Cystic angiomatosis, a heterogeneous condition: Four new cases and a literature review. ( 27787381 )
2016
32
Bullous erythema ab igne with cutaneous reactive angiomatosis. ( 27226050 )
2016
33
Pulmonary manifestation of a condition resembling Kasabach-Merritt syndrome in a woman with abdominal angiomatosis associated with consumptive coagulopathy--surgical management: a case report. ( 25956942 )
2015
34
Diffuse Dermal Angiomatosis: A Clue to the Diagnosis of Atherosclerotic Vascular Disease. ( 26120304 )
2015
35
Diffuse dermal angiomatosis: a clinical mimicker of vasculitis associated with calciphylaxis and monoclonal gammopathy. ( 25502367 )
2015
36
Bacillary angiomatosis: A rare finding in the setting of antiretroviral drugs. ( 26636153 )
2015
37
Imaging features of systemic cystic angiomatosis. ( 26141486 )
2015
38
Leptomeningeal Angiomatosis in a Case of Neurofibromatosis Type 2: An Unusual Finding. ( 26510155 )
2015
39
Vaginal angiomatosis: differential diagnosis of a rare case. ( 26401116 )
2015
40
Diffuse Breast Angiomatosis With Involvement ofA Overlying Skin: A Case Report. ( 26456034 )
2015
41
Bacillary Angiomatosis in Immunocompetent Patient with Atypical Manifestations. ( 26538736 )
2015
42
Bacillary angiomatosis presenting as a digital ulcer. ( 25994885 )
2015
43
Pneumothorax-associated fibroblastic lesion in combination with localized pleural angiomatosis: A possible cause of juvenile spontaneous hemopneumothorax. ( 25749626 )
2015
44
Angiomatosis: A Rare Vascular Proliferation of Head and Neck Region. ( 26157312 )
2015
45
Diffuse dermal angiomatosis associated with severe atherosclerosis: two cases and review of the literature. ( 25639294 )
2015
46
Diffuse dermal angiomatosis of the breast: a series of 22 cases from a single institution. ( 26645009 )
2015
47
Cutaneous bacillary angiomatosis due to Bartonella quintana in a renal transplant recipient. ( 25652715 )
2015
48
Mediastinal angiomatosis: a rare case report. ( 26793386 )
2015
49
Wyburn-Mason Syndrome Associated With Cutaneous Reactive Angiomatosis and Central Retinal Vein Occlusion. ( 26247458 )
2015
50
Diffuse dermal angiomatosis of the abdomen. ( 26066057 )
2015

Variations for Angiomatosis

Expression for Angiomatosis

Search GEO for disease gene expression data for Angiomatosis.

Pathways for Angiomatosis

Pathways related to Angiomatosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.71 GNAQ TSC2

GO Terms for Angiomatosis

Biological processes related to Angiomatosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein stabilization GO:0050821 9.16 GNAQ VHL
2 negative regulation of protein kinase activity GO:0006469 8.96 GNAQ TSC2
3 positive regulation of GTPase activity GO:0043547 8.8 CCL26 GNAQ TSC2

Sources for Angiomatosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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