MCID: ANG016
MIFTS: 40

Angiokeratoma malady

Cancer diseases, Skin diseases categories

Aliases & Classifications for Angiokeratoma

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Sources:
10Disease Ontology, 47Novoseek, 12DISEASES, 65UMLS, 36MeSH, 59SNOMED-CT, 42NCIt
See all sources

Aliases & Descriptions for Angiokeratoma:

Name: Angiokeratoma 10 47 12 65 36
Angiokeratoma of Skin 10 65
 
Cutaneous Angiokeratoma 10
Skin Angiokeratoma 10


Classifications:



External Ids:

Disease Ontology10 DOID:479
NCIt42 C2874
SNOMED-CT59 254788004, 26810009
MeSH36 D000794

Summaries for Angiokeratoma

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Wikipedia:68 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 aspartylglucosaminuria. An important gene associated with Angiokeratoma is NAGA (N-Acetylgalactosaminidase, Alpha-), 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 cardiovascular 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 109)
idRelated DiseaseScoreTop Affiliating Genes
1fucosidosis31.1CTSA, FUCA1, NAGA
2aspartylglucosaminuria30.6AGA, CTSA, NAGA
3mannosidosis, beta30.4CTSA, MANBA, NAGA
4angiokeratoma circumscriptum10.8
5fabry disease10.7
6angiokeratoma of fordyce10.7
7angiokeratoma of mibelli10.5
8vulvar angiokeratoma10.5
9angiokeratoma corporis diffusum with arteriovenous fistulas10.4
10mantle cell lymphoma10.3MANBA, NAGA
11galactosialidosis10.3
12melanoma10.3
13b cell linker protein deficiency10.3HBA1, PROX1
14prolidase deficiency10.3CTSA, MANBA
15multiple epiphyseal dysplasia10.3CTSA, VIM
16kanzaki disease10.3
17hemangioma10.3
18mental retardation, x-linked 10110.3FUCA1, GLA, NAGA
19benign perivascular tumor10.3HBA1, WT1
20basaloid squamous cell carcinoma10.2HBA1, VIM
21hand dermatosis10.2VIM, WT1
22scrotal angioma10.2HBA1, PROX1, WT1
23gallbladder angiosarcoma10.2CD34, HBA1
24periosteal chondrosarcoma10.2CD34, HBA1
25indolent systemic mastocytosis10.2FLT1, SLC2A1
26pancreatic colloid cystadenoma10.2VIM, WT1
27liver angiosarcoma10.2CD34, HBA1
28ischemic fasciitis10.2CD34, HBA1
29septal myocardial infarction10.2CD34, HBA1
30ovary serous adenocarcinoma10.2CD34, HBA1
31epididymis adenomatoid tumor10.2VIM, WT1
32male infertility10.2AGA, CTSA, FUCA1, MANBA
33thyroiditis10.2CD34, HBA1
34gastric signet ring cell adenocarcinoma10.2CD34, VIM
35fallopian tube mucinous adenocarcinoma10.2CD34, HBA1
36kapur toriello syndrome10.2CD34, PROX1
37barrett's adenocarcinoma10.2CD34, HBA1
38aorta angiosarcoma10.1CD34, HBA1
39splenic disease10.1CD34, HBA1
40steroid inherited metabolic disorder10.1CD34, VIM
41frontal lobe neoplasm10.1CD34, WT1
42granuloma annulare10.1
43mannosidosis10.1
44varicocele10.1
45necrobiosis lipoidica10.1
46lymphangioma10.1
47schindler disease10.1
48angiosarcoma10.1CD34, HBA1
49histiocytoid hemangioma10.1CD34, HBA1, WT1
50anterior cranial fossa meningioma10.1FLT1, PROX1, VIM

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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Anatomical Context for Angiokeratoma

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MalaCards organs/tissues related to Angiokeratoma:

33
Skin, Tongue, Endothelial, Breast, Kidney, Skeletal muscle

Animal Models for Angiokeratoma or affiliated genes

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MGI Mouse Phenotypes related to Angiokeratoma:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.0AGA, CTSA, GLA, MANBA, PROX1, SELL
2MP:00053857.5CTSA, FLT1, GLA, MANBA, PDPN, PROX1
3MP:00053847.0AGA, CD34, CTSA, CTSB, FLT1, GLA
4MP:00053786.9AGA, CTSA, CTSB, FLT1, PDPN, PROX1
5MP:00053866.8AGA, CTSA, CTSB, FA2H, FLT1, GLA
6MP:00053976.7CD34, CTSA, FLT1, MANBA, MRAS, PDPN
7MP:00053875.8CD34, CTSA, CTSB, FLT1, GLA, MANBA
8MP:00053765.1AGA, CD34, CTSA, CTSB, FA2H, FLT1

Publications for Angiokeratoma

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Articles related to Angiokeratoma:

(show top 50)    (show all 341)
idTitleAuthorsYear
1
Thrombotic phenomena in angiokeratoma can evolve into spontaneous involution of the lesions: a report of two cases. (26395775)
2015
2
Unilateral angiokeratoma of vulva: a rare clinic entity. (26259393)
2015
3
Angiokeratoma of the nasal vestibule: a case report. (25547753)
2014
4
Angiokeratoma of vulva mimicking genital warts. (25404845)
2014
5
Angiokeratoma circumscriptum of the buccal mucosa: a case report and literature review. (25368837)
2014
6
Treatment of angiokeratoma of Mibelli alone or in combination with pulsed dye laser and long-pulsed Nd: YAG laser. (24911941)
2014
7
A case of solitary angiokeratoma successfully treated with a 1064-nm long-pulsed Nd:YAG laser. (25260142)
2014
8
Angiokeratoma circumscriptum neviforme: An entity, few and far between. (25396132)
2014
9
Angiokeratoma corporis diffusum in a patient with Hodgkin lymphoma: a new paraneoplastic skin manifestation? (23278357)
2013
10
Enzyme replacement therapy in two Japanese siblings with Fabry disease, and its effectiveness on angiokeratoma and neuropathic pain. (23906479)
2013
11
Angiokeratoma presenting as a melanoma: a case report. (23697732)
2013
12
Angiokeratoma - When is a few too many? (24104692)
2013
13
Solitary angiokeratoma on palms and soles: a clinicopathological analysis of 21 cases. (23734792)
2013
14
Concurrent diagnosis of vulvar angiokeratoma with recurrent squamous cell carcinoma after radical vulvectomy and radiation therapy. (24371626)
2012
15
Myoclonus and angiokeratomas in adult galactosialidosis. (21312277)
2011
16
Angiokeratoma of the vulva. (22053688)
2011
17
Report of two angiokeratoma of Fordyce cases treated with a 1064 nm long-pulsed Nd:YAG laser. (19439000)
2009
18
Angiokeratoma of clitoris: a rare lesion in an adolescent girl. (18291515)
2008
19
Treatment of angiokeratoma of Fordyce with pulsed dye laser. (16970695)
2006
20
Angiokeratoma Fordyce of the glans penis: combined treatment with erbium: YAG and 532 nm KTP (frequency doubled neodynium: YAG) laser. (15729872)
2004
21
Linear acral pseudolymphomatous angiokeratoma of children (APACHE): further evidence that APACHE is a cutaneous pseudolymphoma. (12582375)
2003
22
Vulvar angiokeratoma following radical hysterectomy and radiotherapy. (12027822)
2002
23
Comments on angiokeratoma of the tongue. (17656958)
2002
24
Severe predominantly acral variant of angiokeratoma of Mibelli: response to long-pulse Nd:YAG (1064 nm) laser treatment. (11606931)
2001
25
Angiokeratoma circumscriptum naeviforme: rare presentation on the neck. (11903167)
2001
26
Angiokeratoma of the oral cavity and scrotum. (10721665)
2000
27
Idiopathic angiokeratoma corporis diffusum. (9499615)
1997
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
Biochemical and clinical analysis of accumulated glycolipids in symptomatic heterozygotes of angiokeratoma corporis diffusum (Fabry's disease) in comparison with hemizygotes. (2157788)
1990
32
Anderson-Fabry disease (angiokeratoma corporis diffusum universale). (2123167)
1990
33
Angiokeratoma of the vulva: diagnosis and review of the literature. (2657519)
1989
34
Ultrastructure of angiokeratoma vulvae. (2449019)
1988
35
Angiokeratoma circumscriptum of the index finger in a child. (7465672)
1981
36
Diffuse angiokeratoma (Fabry's disease): Case report. (817232)
1976
37
A case of angiokeratoma corporis circumscriptum neviforme. (811697)
1975
38
Angiokeratoma "Circumscriptum". (4639261)
1972
39
Angiokeratoma of Mibelli with necrosis of the fingertips. (4635805)
1972
40
Angiokeratoma of the vulva. (5479313)
1970
41
Angiokeratoma of Mibelli: a family with nodular lesions of the legs. (5708572)
1968
42
Angiokeratoma corporis diffusum--Fabry's disease. (5592081)
1967
43
Angiokeratoma corporis diffusum. (5960367)
1966
44
Thrombosed angiokeratoma simulating malignant melanoma. (5910881)
1966
45
The ocular manifestations of hereditary dystopic lipidosis (angiokeratoma corporis diffusum universale). (13990468)
1963
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
Angiomas of the scrotum (angiokeratoma, Fordyce); compilation of cases and discussion of nomenclature. (20277301)
1946
50
Angiokeratoma, with Bony Changes. (19977542)
1914

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 pathways (with members indented)ScoreTop Affiliating Genes
110.1GLA, NAGA
2
Show member pathways
9.2CTSA, FA2H, GLA, NEU3
38.9AGA, CTSA, CTSB, FUCA1, GLA, MANBA
48.7AGA, 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:004320210.2CTSA, FUCA1, GLA
2external side of plasma membraneGO:00098978.8CD34, CTSB, PDPN, SELL
3lysosomeGO:00057648.2AGA, CD34, CTSA, CTSB, FUCA1, GLA
4extracellular exosomeGO:00700627.3AGA, CTSA, CTSB, FUCA1, FUCA2, GLA

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1glycosylceramide catabolic processGO:004647710.6GLA, NAGA
2positive regulation of heart growthGO:006042110.5PROX1, WT1
3fucose metabolic processGO:000600410.3FUCA1, FUCA2
4negative regulation of nitric oxide biosynthetic processGO:004501910.1CD34, GLA
5glycoside catabolic processGO:00161399.9FUCA1, FUCA2, GLA, NAGA
6lymphangiogenesisGO:00019469.8PDPN, PROX1
7glycosphingolipid metabolic processGO:00066879.6CTSA, GLA, NEU3
8cell motilityGO:00488709.5CD34, PDPN
9sphingolipid metabolic processGO:00066659.3CTSA, FA2H, GLA, NEU3
10carbohydrate metabolic processGO:00059758.2FUCA1, FUCA2, GLA, MANBA, NAGA, NEU3

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

idNameGO IDScoreTop Affiliating Genes
1alpha-galactosidase activityGO:000455710.4GLA, NAGA
2alpha-L-fucosidase activityGO:000456010.1FUCA1, FUCA2
3hydrolase activity, hydrolyzing O-glycosyl compoundsGO:00045539.9GLA, MANBA, NAGA
4protein self-associationGO:00436219.3AGA, CTSB, SLC2A1

Sources for Angiokeratoma

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet