MCID: ANG016
MIFTS: 40

Angiokeratoma malady

Categories: Cancer diseases, Skin diseases

Aliases & Classifications for Angiokeratoma

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Aliases & Descriptions for Angiokeratoma:

Name: Angiokeratoma 11 27 50 39 13 68
Angiokeratoma of Skin 11 68
 
Cutaneous Angiokeratoma 11
Skin Angiokeratoma 11

Classifications:



External Ids:

Disease Ontology11 DOID:479
MeSH39 D000794
SNOMED-CT62 254788004, 26810009
NCIt45 C2874, C4488

Summaries for Angiokeratoma

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Wikipedia:71 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 mannosidosis. An important gene associated with Angiokeratoma is NAGA (Alpha-N-Acetylgalactosaminidase), and among its related pathways are Globo Sphingolipid Metabolism and Other glycan degradation. Affiliated tissues include skin, tongue and endothelial, and related mouse phenotypes are Decreased viability in esophageal squamous lineage and liver/biliary system.

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 67)
idRelated DiseaseScoreTop Affiliating Genes
1fucosidosis31.7CTSA, FUCA1, NAGA
2mannosidosis28.9CTSA, FUCA1, GLA, MANBA
3angiokeratoma of fordyce12.0
4angiokeratoma circumscriptum12.0
5vulvar angiokeratoma12.0
6fabry disease11.9
7angiokeratoma of mibelli11.9
8angiokeratoma corporis diffusum with arteriovenous fistulas11.8
9galactosialidosis11.3
10kanzaki disease11.2
11schindler disease10.9
12mannosidosis, beta10.8
13schindler disease, type i10.8
14cobb syndrome10.8
15mccallum macadam johnston syndrome10.8
16charge syndrome9.9GLA, MANBA
17malignant fibrous histiocytoma of bone9.9CTSA, NAGA
18nasopharyngeal carcinoma 29.9CTSA, NAGA
19melanoma9.9
20retinitis pigmentosa 299.9CTSA, NAGA
21seizures, benign familial infantile, 19.9CTSA, MANBA
22purpura9.9CTSA, NAGA
23hemangioma9.9
24dysostosis9.9CTSA, GLA
25epileptic encephalopathy, early infantile, 99.9FUCA1, GLA, NAGA
26megakaryocytic leukemia9.8CTSA, MANBA, NAGA
27hyperinsulinemic hypoglycemia, familial, 49.8CTSA, MANBA, NAGA
28myopia 23, autosomal recessive9.7CTSA, GLA
29intracranial hypotension9.7GLA, MANBA, NAGA, PROX1
30granuloma annulare9.7
31penile cancer9.7
32varicocele9.7
33lymphangioma9.7
34necrobiosis lipoidica9.7
35verrucous hemangioma9.7
36cutaneous pseudolymphoma9.7
37myocardial infarction9.6
38hodgkin lymphoma9.6
39aspartylglucosaminuria9.6
40kaposi sarcoma9.6
41blue rubber bleb nevus9.6
42arteriovenous fistula9.6
43lymphedema9.6
44lymphoma9.6
45sarcoma9.6
46mucopolysaccharidosis9.6
47diarrhea9.6
48squamous cell carcinoma9.6
49vaginitis9.6
50papilloma9.6

Graphical network of the top 20 diseases related to Angiokeratoma:



Diseases related to angiokeratoma

Symptoms & Phenotypes for Angiokeratoma

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00235-A8.5CTSA, GLA, MANBA, NAGA, PROX1

MGI Mouse Phenotypes related to Angiokeratoma according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.2CTSA, GLA, MANBA, PROX1

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 Angiokeratoma27

Anatomical Context for Angiokeratoma

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MalaCards organs/tissues related to Angiokeratoma:

36
Skin, Tongue, Endothelial, Cervix, Skeletal muscle, Breast, Kidney

Publications for Angiokeratoma

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Articles related to Angiokeratoma:

(show top 50)    (show all 354)
idTitleAuthorsYear
1
Angiokeratoma of Tongue. (28060116)
2017
2
Acral pseudolymphomatous angiokeratoma of children with rainbow pattern: A mimicker of Kaposi sarcoma. (28087020)
2017
3
Solitary angiokeratoma with Meyerson phenomenon. (28087017)
2017
4
Extensive angiokeratoma circumscriptum - successful treatment with 595-nm variable-pulse pulsed dye laser and 755-nm long-pulse pulsed alexandrite laser. (26736060)
2016
5
Angiokeratoma corporis diffusum (Fabry disease) - A case report. (27727956)
2016
6
Bleeding Angiokeratomas in Fabry Disease Treated With Argon Plasma Coagulation. (27060427)
2016
7
Solitary Angiokeratoma Presenting as Cutaneous Horn over the Prepuce: A Rare Appearance. (27057048)
2016
8
Acral pseudolymphomatous angiokeratoma of children (APACHE)-like eruption in adult identical twins. (27663149)
2016
9
Radiation-induced Vulvar Angiokeratoma Along with Other Late Radiation Toxicities after Carcinoma Cervix: A Rare Case Report. (27057045)
2016
10
Angiokeratoma of the gluteal region in old age. (27694066)
2016
11
Eruptive angiokeratomas and porokeratosis in the setting of sclerodermatous graft-vs.-host disease. (26957361)
2016
12
Successful treatment of angiokeratoma circumscriptum naeviforme with long pulse alexandrite laser. (27511129)
2016
13
Efficacy of 595nm pulsed dye laser therapy for Mibelli angiokeratoma. (25549813)
2015
14
Pigmented Spitz nevus simulating a solitary angiokeratoma. (25773434)
2015
15
A rare case of angiokeratoma in a 8-month-old boy. (25678595)
2015
16
Linear acral pseudolymphomatous angiokeratoma of children with associated nail dystrophy. (26436972)
2015
17
Solitary Angiokeratoma: Report of Two Uncommon Cases. (26155544)
2015
18
Angiokeratoma corporis diffusum. (25691205)
2015
19
An Extreme Case of Fordyce Angiokeratoma. (26099899)
2015
20
Angiokeratoma of Fordyce response to long pulsed Nd:YAG laser treatment. (26531316)
2015
21
Multiple giant angiokeratoma of Fordyce on the shaft of the penis masquerading as keratoacanthoma. (26312700)
2015
22
In vivo characterization of solitary angiokeratoma by reflectance confocal microscopy and high definition optical coherence tomography. (25500039)
2015
23
Thrombotic phenomena in angiokeratoma can evolve into spontaneous involution of the lesions: a report of two cases. (26395775)
2015
24
Multicentric study on the diagnosis of Fabry's disease using angiokeratoma biopsy registries. (25778427)
2015
25
Pulsed dye laser versus long pulsed Nd:YAG laser in the treatment of angiokeratoma of Fordyce: A randomized, comparative, observer-blinded study. (26371766)
2015
26
Subungual Angiokeratoma Presenting as a Longitudinal Pigmented Band in the Nail. (25721145)
2015
27
Unilateral angiokeratoma of vulva: a rare clinic entity. (26259393)
2015
28
Familial angiokeratoma corporis diffusum without identified enzyme defect. (25566897)
2015
29
Treatment of angiokeratoma of Mibelli alone or in combination with pulsed dye laser and long-pulsed Nd: YAG laser. (24911941)
2014
30
Eyelid angiokeratoma. (25100920)
2014
31
Expression of WT-1 by the Vascular Component of Acral Pseudolymphomatous Angiokeratoma of Children. (25376760)
2014
32
Angiokeratoma of vulva mimicking genital warts. (25404845)
2014
33
Angiokeratoma circumscriptum in a young male. (24470669)
2014
34
Angiokeratoma circumscriptum neviforme: An entity, few and far between. (25396132)
2014
35
Angiokeratoma of the nasal vestibule: a case report. (25547753)
2014
36
Angiokeratoma circumscriptum of the buccal mucosa: a case report and literature review. (25368837)
2014
37
Unusual presentation of angiokeratoma in a cirrhotic patient. (24470684)
2014
38
Uncertain Diagnosis of Fabry Disease in Patients with Neuropathic Pain, Angiokeratoma or Cornea Verticillata: Consensus on the Approach to Diagnosis and Follow-Up. (25224312)
2014
39
Angiokeratoma circumscriptum naeviforme with soft tissue hypertrophy and deep venous malformation: A variant of Klippel-Trenaunay syndrome? (25593797)
2014
40
Papular pseudolymphoma of adults as a variant of acral pseudolymphomatous angiokeratoma of children (APACHE). (24628800)
2014
41
A very rare case of vaginal angiokeratoma. (24984549)
2014
42
Solitary angiokeratoma of tongue: a rare entity clinically mistaken as a malignant tumor. (25118768)
2014
43
Angiokeratoma circumscriptum: dilemma in diagnosis. (24943793)
2014
44
Lymphangioma circumscriptum, angiokeratoma, or superficial vascular ectasia with epithelial hyperplasia? (24491964)
2014
45
Late onset palmar angiokeratoma circumscriptum: An unusual presentation. (25165655)
2014
46
A case of solitary angiokeratoma successfully treated with a 1064-nm long-pulsed Nd:YAG laser. (25260142)
2014
47
Unusual papillary lesion of the ventral tongue: case report of solitary angiokeratoma of the oral cavity. (23767401)
2013
48
Angiokeratoma corporis diffusum in the absence of metabolic disorders: a case report and mini-review of the published work. (23682989)
2013
49
Fabry disease and the clinical spectrum of angiokeratomas. (22975414)
2013
50
Angiokeratoma presenting as a melanoma: a case report. (23697732)
2013

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
1
Show member pathways
9.6GLA, NAGA
29.3FUCA1, MANBA
37.6CTSA, FUCA1, GLA, MANBA, NAGA

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
1azurophil granule lumenGO:00355789.2CTSA, FUCA1, GLA
2lysosomal lumenGO:00432028.7CTSA, FUCA1, GLA, MANBA
3lysosomeGO:00057647.6CTSA, FUCA1, GLA, MANBA, NAGA

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

idNameGO IDScoreTop Affiliating Genes
1glycosphingolipid metabolic processGO:00066879.9CTSA, GLA
2glycoside catabolic processGO:00161399.7FUCA1, GLA, NAGA
3carbohydrate metabolic processGO:00059759.2FUCA1, GLA, MANBA, NAGA
4metabolic processGO:00081529.1FUCA1, GLA, MANBA, NAGA
5neutrophil degranulationGO:00433128.1CTSA, FUCA1, GLA, MANBA

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

idNameGO IDScoreTop Affiliating Genes
1alpha-galactosidase activityGO:000455710.3GLA, NAGA
2hydrolase activity, hydrolyzing O-glycosyl compoundsGO:00045539.6GLA, NAGA
3hydrolase activity, acting on glycosyl bondsGO:00167988.8FUCA1, GLA, MANBA, NAGA
4hydrolase activityGO:00167878.2CTSA, FUCA1, GLA, MANBA, NAGA

Sources for Angiokeratoma

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet