Aliases & Classifications for Angiomatosis

MalaCards integrated aliases for Angiomatosis:

Name: Angiomatosis 53 54 71

External Ids:

UMLS 71 C0002992

Summaries for Angiomatosis

NINDS : 53 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 sturge-weber syndrome and von hippel-lindau syndrome. An important gene associated with Angiomatosis is NHLRC2 (NHL Repeat Containing 2), and among its related pathways/superpathways is Translation Translation regulation by Alpha-1 adrenergic receptors. Affiliated tissues include retina, bone and brain, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Wikipedia : 74 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 318)
# Related Disease Score Top Affiliating Genes
1 sturge-weber syndrome 33.6 TSC2 GNAQ
2 von hippel-lindau syndrome 32.2 VHL TSC2
3 capillary hemangioma 30.4 VHL GNAQ
4 hemangioma 30.4 VHL TSC2 GNAQ
5 congenital heart defects, hamartomas of tongue, and polysyndactyly 29.8 TSC2 CCL26
6 tuberous sclerosis 1 29.4 TSC2 CCL26
7 tuberous sclerosis 29.4 VHL TSC2 CCL26
8 neurofibromatosis, type i 29.3 VHL TSC2
9 bacillary angiomatosis 12.7
10 fibrosis, neurodegeneration, and cerebral angiomatosis 12.7
11 diffuse dermal angiomatosis 12.6
12 angiomatosis, diffuse corticomeningeal, of divry and van bogaert 12.4
13 skeletal-extraskeletal angiomatosis 12.4
14 breast angiomatosis 12.3
15 familial capillaro-venous leptomeningeal angiomatosis 12.3
16 cystic angiomatosis of bone, diffuse 12.3
17 multifocal lymphangioendotheliomatosis with thrombocytopenia 11.7
18 cobb syndrome 11.6
19 bartonellosis 11.5
20 trench fever 11.5
21 gorham's disease 11.5
22 multiple enchondromatosis, maffucci type 11.3
23 encephalocraniocutaneous lipomatosis 11.2
24 autism with port-wine stain 11.2
25 kaposi sarcoma 10.7
26 weber syndrome 10.6
27 acquired immunodeficiency syndrome 10.6
28 cat-scratch disease 10.6
29 angiosarcoma 10.4
30 human immunodeficiency virus type 1 10.4
31 sarcoma 10.4
32 spindle cell sarcoma 10.4
33 immune deficiency disease 10.4
34 pyogenic granuloma 10.4
35 retinal detachment 10.3
36 arteriovenous malformation 10.3
37 thrombocytopenia 10.3
38 reactive angioendotheliomatosis 10.3
39 bacterial infectious disease 10.2
40 peliosis hepatis 10.2
41 klippel-trenaunay-weber syndrome 10.2
42 intraocular pressure quantitative trait locus 10.2
43 telangiectasis 10.2
44 lymphangioma 10.2
45 vascular disease 10.2
46 neurofibromatosis 10.2
47 rare lymphatic malformation 10.2
48 atherosclerosis susceptibility 10.2
49 leukemia, chronic lymphocytic 10.2
50 disseminated intravascular coagulation 10.2

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:

26 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.47 TSC2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.47 TSC2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.47 TSC2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-18 9.47 PLAG1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.47 VHL
6 Increased shRNA abundance (Z-score > 2) GR00366-A-200 9.47 VHL
7 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.47 PLAG1 TSC2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.47 PLAG1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-55 9.47 TSC2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-62 9.47 TSC2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.47 VHL
12 Increased shRNA abundance (Z-score > 2) GR00366-A-92 9.47 TSC2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-95 9.47 TSC2

MGI Mouse Phenotypes related to Angiomatosis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.02 DLK1 NHLRC2 PLAG1 TSC2 VHL

Drugs & Therapeutics for Angiomatosis

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 International Registry for Vascular Anomalies Associated With Coagulopathy Completed NCT00576888

Search NIH Clinical Center for Angiomatosis

Genetic Tests for Angiomatosis

Anatomical Context for Angiomatosis

MalaCards organs/tissues related to Angiomatosis:

40
Retina, Bone, Brain, Breast, Eye, Spinal Cord, Kidney

Publications for Angiomatosis

Articles related to Angiomatosis:

(show top 50) (show all 1821)
# Title Authors PMID Year
1
Von Hippel-Lindau syndrome. 61 54
7670659 1995
2
Bacillary angiomatosis triggered by severe trauma in a healthy Caucasian patient: A case report. 61
32508994 2020
3
Extraocular muscle enlargement in retinoencephalofacial angiomatosis. 61
31658870 2020
4
Multifocal Diffuse Dermal Angiomatosis: A Reflection of High Cardiovascular Risk. 61
32511742 2020
5
Tumoural pseudoangiomatous stromal hyperplasia and angiomatosis of the breast in the same tumour: An unprecedented association. 61
32548927 2020
6
Novel compound heterozygous variants in NHLRC2 in a patient with FINCA syndrome. 61
32435055 2020
7
Diffuse Dermal Angiomatosis: Report of a Classic Case With a Comment on the Pathophysiology Based on the Histologic Findings. 61
31833841 2020
8
Cystic angiomatosis skull lesion obliteration with neuroendovascular sclerotherapy as a unique treatment: case report. 61
32384276 2020
9
Diffuse bone and soft tissue angiomatosis with GNAQ mutation. 61
32314513 2020
10
Bacillary Angiomatosis in Renal Transplant Recipient: A Case Report. 61
32334794 2020
11
Diffuse dermal angiomatosis of the breast. 61
32313486 2020
12
Soft tissue angiomatosis: another PIK3CA-related disorder. 61
31630434 2020
13
Atypical Intracerebral Developmental Venous Anomalies in Sturge-Weber Syndrome: A Case Series and Review of Literature. 61
31924481 2020
14
Vascular Floor of Mouth Mass with Unanticipated Intracranial, Orbital, and Vertebral Associated Involvements. 61
30758759 2020
15
Correction: Progressive cutaneous angiomatosis in the metatarsal region of a cat. 61
32125241 2020
16
Angiomatosis of the Urinary Bladder: A New Anatomic Location for a Rare Tumor. 61
31454655 2020
17
Asymptomatic Skeletal Cystic Angiomatosis May Be Managed Conservatively With Close Observation. 61
32079988 2020
18
Gene duplication and deletion, not horizontal transfer, drove intra-species mosaicism of Bartonella henselae. 61
30902757 2020
19
Specialties of hystomorphometrical changes in placenta of women with early and late preeclampsia. 61
32124826 2020
20
Diffuse dermal angiomatosis associated with calciphylaxis: A 5-year retrospective institutional review. 61
31589777 2020
21
Prurigiform Angiomatosis: Reactive Angioproliferation in the Skin and Vascular Endothelial Growth Factors. 61
31124884 2020
22
Histologic features of GVHD-associated angiomatosis: Insights into pathophysiology and treatment. 61
31923444 2020
23
Progressive cutaneous angiomatosis in the metatarsal region of a cat. 61
31910088 2020
24
Image Gallery: An atypical form of bacillary angiomatosis as the presenting illness of AIDS. 61
31353445 2019
25
Intracranial variant of encephalotrigeminal angiomatosis - A case report. 61
31939383 2019
26
Is ultra wide-field retinal imaging alone appropriate for retinal angioma screening in lower risk subjects attending Von Hippel-Lindau (VHL) clinics? 61
31638449 2019
27
Unusual Cause of Facial Asymmetry: Sturge-Weber Syndrome. 61
31135660 2019
28
Dilated and tortuous retinal vessels as a sign of Cantu syndrome. 61
31584310 2019
29
First Report of Bacillary Angiomatosis by Bartonella elizabethae in an HIV-Positive Patient. 61
31094718 2019
30
Diffuse, fracturing systemic skeletal histiocytosis of unknown type: a novel metabolic bone disease. 61
31147735 2019
31
Angiomatosis of the breast: a clinicopathological and immunophenotypical characterisation of seven cases. 61
31088938 2019
32
Cutaneous manifestations of bartonellosis. 61
31780437 2019
33
Clinicopathologic Features and Calcium Deposition Patterns in Calciphylaxis: Comparison With Gangrene, Peripheral Artery Disease, Chronic Stasis, and Thrombotic Vasculopathy. 61
31192861 2019
34
Anesthetic Considerations in Cobb Syndrome: A Case Report. 61
30973350 2019
35
Cystic angiomatosis, pleural effusion and multiple bone lesions mimicking a metastatic malignant neoplasia: a case report. 61
31434569 2019
36
Phenobarbital-Induced Liver Injury With Nodal Angiomatosis. 61
30791105 2019
37
Genetic and developmental disorders of the oral mucosa: Epidemiology; molecular mechanisms; diagnostic criteria; management. 61
31090139 2019
38
Bilateral diffuse choroidal hemangioma in Sturge Weber syndrome: A case report highlighting the role of multimodal imaging and a brief review of the literature. 61
31317109 2019
39
The First Clinical Case of Gorham-Stout Syndrome of Humerus in an 18-year-old Female Reported in Pakistan. 61
31403018 2019
40
Idiopathic inflammatory myopathy comorbid with Sturge-Weber syndrome: a case report. 61
31053110 2019
41
Orbital Hemangioma in Bean Syndrome: The Lure of the Red Herring. 61
30576827 2019
42
Diffuse cerebral angiomatosis: a case report with fatal outcome. 61
30829073 2019
43
Diffuse dermal angiomatosis. 61
31039226 2019
44
Diffuse Skeletal Hemangiomatosis Mimicking Metastastic Disease on 18F-FDG PET/CT. 61
30624273 2019
45
Cobb Syndrome Manifesting as Repetitive Seizures in a 10-Year-Old Girl: A Case Report and Literature Review. 61
31866938 2019
46
Rare Coexistence of a Cerebellar Hemangioblastoma and Angiomatosis of the Breast without Underlying Phakomatosis. 61
31448159 2019
47
[Pathological hip fracture of pediatric age. Revision of the cystic angiomatosis of the bone]. 61
31480127 2019
48
Bacillary angiomatosis in a solid organ transplant recipient. 61
31828013 2019
49
Pathophysiology and management of glaucoma associated with phakomatoses. 61
29607552 2019
50
Proposed Classification System for Retinal Capillary Angiomatosis. 61
30497078 2019

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 TSC2 GNAQ

GO Terms for Angiomatosis

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

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

Sources for Angiomatosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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