MCID: ANG016
MIFTS: 43

Angiokeratoma malady

Categories: Cancer diseases, Skin diseases

Aliases & Classifications for Angiokeratoma

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Aliases & Descriptions for Angiokeratoma:

Name: Angiokeratoma 11 13 25 48 37 66
Angiokeratoma of Skin 11 66
 
Cutaneous Angiokeratoma 11
Skin Angiokeratoma 11

Classifications:



External Ids:

Disease Ontology11 DOID:479
MeSH37 D000794
SNOMED-CT60 254788004, 26810009
NCIt43 C2874, C4488

Summaries for Angiokeratoma

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Wikipedia:69 Angiokeratoma is a benign cutaneous lesion of capillaries, resulting in small marks of red to blue color... more...

MalaCards based summary: Angiokeratoma, also known as angiokeratoma of skin, is related to fucosidosis and epidermolysis bullosa. An important gene associated with Angiokeratoma is NAGA (Alpha-N-Acetylgalactosaminidase), and among its related pathways are Glycosphingolipid biosynthesis - globo series and Sphingolipid metabolism. Affiliated tissues include skin, tongue and endothelial, and related mouse phenotypes are liver/biliary system and cellular.

Related Diseases for Angiokeratoma

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

(show top 50)    (show all 112)
idRelated DiseaseScoreTop Affiliating Genes
1fucosidosis31.8AGA, CTSA, FUCA1, NAGA
2epidermolysis bullosa30.2HBA1, PROX1, SLC2A1
3diarrhea29.4HBA1, PDPN, WT1
4angiokeratoma of fordyce12.2
5angiokeratoma circumscriptum12.1
6vulvar angiokeratoma12.1
7angiokeratoma of mibelli12.0
8angiokeratoma corporis diffusum with arteriovenous fistulas11.9
9fabry disease11.9
10schindler disease11.0
11mccallum macadam johnston syndrome10.9
12marginal zone b-cell lymphoma10.8MANBA, NAGA
13seizures, benign familial infantile, 110.7CTSA, MANBA
14leptospirosis10.7HBA1, PROX1
15epileptic encephalopathy, early infantile, 910.6FUCA1, GLA, NAGA
16atrial septal defect 610.6AGA, CTSA, NAGA
173-hydroxyacyl-coa dehydrogenase deficiency10.6CTSA, MANBA, NAGA
18galactosialidosis10.6
19black piedra10.6CTSA, VIM
20kanzaki disease10.5
21middle ear squamous cell carcinoma10.5HBA1, VIM
22baastrup's syndrome10.5HBA1, PROX1, WT1
23large cell keratinizing variant squamous cell breast carcinoma10.5VIM, WT1
24retinitis10.5SLC2A1, WT1
25thyroid angiosarcoma10.4CD34, HBA1
26hypotrichosis10.4CD34, HBA1
27urogenital tuberculosis10.4CD34, HBA1
28malignant peritoneal solitary fibrous tumor10.4VIM, WT1
29orthostatic proteinuria10.4CD34, HBA1
30malignant glioma10.4AGA, CTSA, FUCA1, MANBA
31skin angiosarcoma10.4CD34, HBA1
32ocular melanoma10.4HBA1, PROX1, SLC2A1
33leopard syndrome10.4CD34, HBA1
34pleomorphic adenoma10.4CD34, HBA1
35sebaceous adenoma10.4F8, HBA1, WT1
36gallbladder angiosarcoma10.4CD34, HBA1
37cerebral angioma10.4CD34, HBA1
38spinal cord astrocytoma10.4CD34, HBA1
39congenital cystic eye multiple ocular and intracranial anomalies10.4CD34, PROX1
40ovarian surface papilloma10.3VIM, WT1
41pediatric osteosarcoma10.3CD34, HBA1
42myxoid liposarcoma of the ovary10.3CD34, VIM
43pediatric fibrosarcoma10.3CD34, WT1
44auricular cancer10.3CD34, VIM
45malignant mediastinal neurogenic neoplasm10.3CD34, SLC2A1
46hyperlucent lung10.2CD34, HBA1, PROX1
47uremic neuropathy10.2CD34, HBA1, WT1
48spindle cell liposarcoma10.2CD34, HBA1
49vulvar liposarcoma10.2CD34, HBA1, WT1
50bile duct mucoepidermoid carcinoma10.2CD34, SLC2A1

Graphical network of the top 20 diseases related to Angiokeratoma:



Diseases related to angiokeratoma

Symptoms for Angiokeratoma

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Drugs & Therapeutics for Angiokeratoma

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Fabry Disease RegistryRecruitingNCT00196742
2Fabry's Disease and Pregnancy (PREFAB)Enrolling by invitationNCT02582294
3Enzyme Replacement Therapy in Fabry DiseaseTerminatedNCT00149318

Search NIH Clinical Center for Angiokeratoma


Cochrane evidence based reviews: angiokeratoma

Genetic Tests for Angiokeratoma

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Genetic tests related to Angiokeratoma:

id Genetic test Affiliating Genes
1 Angiokeratoma25

Anatomical Context for Angiokeratoma

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MalaCards organs/tissues related to Angiokeratoma:

34
Skin, Tongue, Endothelial, Cervix, Skeletal muscle, Breast, Kidney

Animal Models for Angiokeratoma or affiliated genes

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MGI Mouse Phenotypes related to Angiokeratoma:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.1AGA, CTSA, GLA, MANBA, PROX1, SELL
2MP:00053847.3AGA, CD34, CTSA, CTSB, GLA, MANBA
3MP:00053976.9CD34, CTSA, F8, MANBA, MRAS, PDPN
4MP:00053866.9AGA, CTSA, CTSB, FA2H, GLA, MANBA
5MP:00053876.4CD34, CTSA, CTSB, F8, GLA, MANBA
6MP:00053765.0AGA, CD34, CTSA, CTSB, F8, FA2H

Publications for Angiokeratoma

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Articles related to Angiokeratoma:

(show top 50)    (show all 349)
idTitleAuthorsYear
1
Solitary Angiokeratoma Presenting as Cutaneous Horn over the Prepuce: A Rare Appearance. (27057048)
2016
2
Thrombotic phenomena in angiokeratoma can evolve into spontaneous involution of the lesions: a report of two cases. (26395775)
2015
3
Unilateral angiokeratoma of vulva: a rare clinic entity. (26259393)
2015
4
An Extreme Case of Fordyce Angiokeratoma. (26099899)
2015
5
Multicentric study on the diagnosis of Fabry's disease using angiokeratoma biopsy registries. (25778427)
2015
6
Angiokeratoma of the nasal vestibule: a case report. (25547753)
2014
7
Angiokeratoma circumscriptum of the buccal mucosa: a case report and literature review. (25368837)
2014
8
Angiokeratoma corporis diffusum in a patient with Hodgkin lymphoma: a new paraneoplastic skin manifestation? (23278357)
2013
9
Enzyme replacement therapy in two Japanese siblings with Fabry disease, and its effectiveness on angiokeratoma and neuropathic pain. (23906479)
2013
10
Angiokeratoma presenting as a melanoma: a case report. (23697732)
2013
11
A giant angiokeratoma of Fordyce: an uncommon cause of acute scrotum. (24051154)
2013
12
Angiokeratomas in Fabry disease. (22990047)
2013
13
Giant angiokeratoma of Fordyce over the vulva in a middle-aged woman: case report and review of literature. (23723496)
2013
14
Angiokeratoma of the vulva. (22053688)
2011
15
Report of two angiokeratoma of Fordyce cases treated with a 1064 nm long-pulsed Nd:YAG laser. (19439000)
2009
16
Angiokeratoma of clitoris: a rare lesion in an adolescent girl. (18291515)
2008
17
Treatment of angiokeratoma of Fordyce with pulsed dye laser. (16970695)
2006
18
Angiokeratoma circumscriptum naeviforme: successful treatment with carbon-dioxide laser vaporization. (15762221)
2005
19
Angiokeratoma Fordyce of the glans penis: combined treatment with erbium: YAG and 532 nm KTP (frequency doubled neodynium: YAG) laser. (15729872)
2004
20
Vulvar angiokeratoma following radical hysterectomy and radiotherapy. (12027822)
2002
21
Comments on angiokeratoma of the tongue. (17656958)
2002
22
Acral pseudolymphomatous angiokeratoma of children: a case with a lesion on the wrist. (12361139)
2002
23
Acral pseudolymphomatous angiokeratoma of children: immunohistochemical and clonal analyses of the infiltrating cells. (12100634)
2002
24
Severe predominantly acral variant of angiokeratoma of Mibelli: response to long-pulse Nd:YAG (1064 nm) laser treatment. (11606931)
2001
25
Acral pseudolymphomatous angiokeratoma of children: a pseudolymphoma rather than an angiokeratoma. (11531852)
2001
26
Angiokeratoma and pain, but not Fabry's disease: considerations for differential diagnosis. (11688390)
2001
27
Angiokeratoma of the oral cavity and scrotum. (10721665)
2000
28
Laser treatment of recurrent vulvar angiokeratoma associated with Noonan syndrome. (8677117)
1996
29
Angiokeratoma corporis diffusum with glycopeptiduria due to deficient lysosomal alpha-N-acetylgalactosaminidase activity. Clinical, morphologic, and biochemical studies. (8466216)
1993
30
Transepidermal elimination of thrombi in three cases of thrombotic angiokeratoma: an incidental histopathologic finding of angiokeratoma. (1791241)
1991
31
Angiokeratoma of the vulva: diagnosis and review of the literature. (2657519)
1989
32
Angiokeratoma corporis diffusum and normal enzyme activities. (2989343)
1985
33
Angiokeratoma corporis naeviforme. (6714505)
1984
34
Angiokeratoma circumscriptum of the index finger in a child. (7465672)
1981
35
Fucosidosis with angiokeratoma. Electron microscopic changes in the skin. (578107)
1977
36
Diffuse angiokeratoma (Fabry's disease): Case report. (817232)
1976
37
Angiokeratoma "Circumscriptum". (4639261)
1972
38
Angiokeratoma of Mibelli with necrosis of the fingertips. (4635805)
1972
39
Linkage relationships of the angiokeratoma (Fabry) locus. (5307232)
1969
40
Radiation angiokeratoma following grenz radiation. (5822372)
1969
41
Angiokeratoma corporis diffusum. Some clinical aspects. (5642987)
1968
42
Electron-microscopical investigation of the skin in angiokeratoma corporis diffusum. (5651307)
1968
43
Methods of demonstration of lipid deposits in angiokeratoma corporis diffusum. (Diagnostic significance of skin biopsies). (4167026)
1967
44
Notes on a case of angiokeratoma corporis diffusum (Fabry's disease). (5938403)
1966
45
ANGIOKERATOMA CORPORIS DIFFUSUM (FABRY'S DISEASE). (14246156)
1965
46
Angiokeratoma corporis diffusum. (13781480)
1960
47
Angiokeratoma corporis diffusum. (13584689)
1958
48
Histological investigation of the skin in angiokeratoma corporis diffusum in particular with regard to the associated disturbance of phosphatid metabolism. (13219963)
1954
49
Diffuse angiokeratoma: report of two cases with diffuse skin changes, one with neurological symptoms and splenomegaly. (13021549)
1952
50
Systematized angiokeratoma. (18933238)
1948

Variations for Angiokeratoma

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Expression for genes affiliated with Angiokeratoma

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Search GEO for disease gene expression data for Angiokeratoma.

Pathways for genes affiliated with Angiokeratoma

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Pathways related to Angiokeratoma according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
110.1GLA, NAGA
2
Show member pathways
9.2CTSA, FA2H, GLA, NEU3
38.8AGA, CTSA, CTSB, FUCA1, GLA, MANBA
4
Show member pathways
8.7AGA, FUCA1, FUCA2, MANBA, NEU3

GO Terms for genes affiliated with Angiokeratoma

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Cellular components related to Angiokeratoma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1lysosomal lumenGO:004320210.1CTSA, FUCA1, GLA, MANBA
2external side of plasma membraneGO:00098978.7CD34, CTSB, PDPN, SELL
3lysosomeGO:00057648.5AGA, CD34, CTSA, CTSB, GLA, MANBA
4extracellular exosomeGO:00700627.1AGA, CTSA, CTSB, FUCA1, FUCA2, GLA

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of heart growthGO:006042110.3PROX1, WT1
2fucose metabolic processGO:000600410.0FUCA1, FUCA2
3glycoside catabolic processGO:001613910.0FUCA1, FUCA2, NAGA
4negative regulation of nitric oxide biosynthetic processGO:00450199.9CD34, GLA
5lymphangiogenesisGO:00019469.6PDPN, PROX1
6oligosaccharide catabolic processGO:00093139.6MANBA, NEU3
7glycosphingolipid metabolic processGO:00066879.4CTSA, GLA, NEU3
8cell motilityGO:00488708.8CD34, PDPN

Molecular functions related to Angiokeratoma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1alpha-galactosidase activityGO:000455710.5GLA, NAGA
2alpha-L-fucosidase activityGO:000456010.2FUCA1, FUCA2
3protein self-associationGO:00436219.5AGA, CTSB, SLC2A1
4exo-alpha-sialidase activityGO:00043089.3CTSA, NEU3

Sources for Angiokeratoma

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet