MCID: ANG016
MIFTS: 44

Angiokeratoma malady

Skin diseases category

Summaries for Angiokeratoma

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63Wikipedia, 32MalaCards
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Wikipedia:63 Angiokeratoma is a benign cutaneous lesion of capillaries, resulting in small marks of red to blue color... more...

MalaCards: Angiokeratoma, also known as angiokeratoma of skin, is related to fabry disease and fucosidosis. An important gene associated with Angiokeratoma is NAGA (N-acetylgalactosaminidase, alpha-), and among its related pathways are Glycosphingolipid biosynthesis - globo series and Sphingolipid metabolism. The compounds 1-deoxynojirimycin and l-fucose have been mentioned in the context of this disorder. Affiliated tissues include skin, tongue and skeletal muscle, and related mouse phenotypes are renal/urinary system and liver/biliary system.

Aliases & Classifications for Angiokeratoma

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Sources:
8Disease Ontology, 10DISEASES, 44Novoseek, 60UMLS, 34MeSH, 39NCIt, 56SNOMED-CT
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Skin diseases


Aliases & Descriptions:

angiokeratoma 8 10 44 60
angiokeratoma of skin 8 60
cutaneous angiokeratoma 8
skin angiokeratoma 8


External Ids:

Disease Ontology8 DOID:479
MeSH34 D000794
SNOMED-CT56 254788004, 26810009
NCIt39 C2874

Related Diseases for Angiokeratoma

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Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Angiokeratoma:



Diseases related to angiokeratoma

Clinical Features for Angiokeratoma

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Drugs & Therapeutics for Angiokeratoma

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Angiokeratoma

Drug clinical trials:

Search ClinicalTrials for Angiokeratoma

Search NIH Clinical Center for Angiokeratoma

Search CenterWatch for Angiokeratoma

Genetic Tests for Angiokeratoma

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Anatomical Context for Angiokeratoma

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32MalaCards
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MalaCards organs/tissues related to Angiokeratoma:

32
Skin, Tongue, Skeletal muscle, Kidney, Breast, Endothelial

Animal Models for Angiokeratoma or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Angiokeratoma:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.5GLA, MANBA, AGA, CTSA
2MP:00053708.2GLA, MANBA, AGA, CTSA

Publications for Angiokeratoma

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50PubMed
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Articles related to Angiokeratoma:

(show top 50)    (show all 308)
idTitleAuthorsYear
1
Enzyme replacement therapy in two Japanese siblings with Fabry disease, and its effectiveness on angiokeratoma and neuropathic pain. (23906479)
2013
2
Angiokeratoma presenting as a melanoma: a case report. (23697732)
2013
3
Second reported case of unilateral angiokeratoma of the vulva. (23855382)
2013
4
Concurrent diagnosis of vulvar angiokeratoma with recurrent squamous cell carcinoma after radical vulvectomy and radiation therapy. (24371626)
2012
5
Angiokeratoma of the scrotum and sublingual varices in a patient with jejunal phlebectasia. (23178205)
2012
6
Angiokeratoma: a cutaneous marker of Fabry's disease. (19843083)
2010
7
Angiokeratoma of the lower extremities: successful treatment with a dual-wavelength laser system (595 and 1064 nm). (18435732)
2009
8
Solitary angiokeratoma of the tonsillar pillar of the oral cavity. (19221656)
2009
9
Pseudolymphomatous angiokeratoma: report of three cases and an immunohistological study. (18681875)
2009
10
Angiokeratoma and epidermal nevus. (18086614)
2008
11
Congenital lymphedema-lymphangiectasia associated with scrotal angiokeratoma (Fordyce Type) and hearing impairment. (18496391)
2008
12
Angiokeratoma corporis diffusum in human beta-mannosidosis: Report of a new case and a novel mutation. (17420068)
2007
13
Cutaneous angiokeratoma and venous malformations in a Hispanic-American patient with cerebral cavernous malformations. (17578448)
2007
14
Angiokeratoma corporis diffusum in a patient with no recognizable enzyme abnormalities. (16702499)
2006
15
Rare case of recurrent angiokeratoma of Fordyce on penile shaft. (17070385)
2006
16
Cutaneous variant of angiokeratoma corporis diffusum associated with angiokeratoma circumscriptum. (15347502)
2004
17
Linear acral pseudolymphomatous angiokeratoma of children (APACHE): further evidence that APACHE is a cutaneous pseudolymphoma. (12582375)
2003
18
Acral pseudolymphomatous angiokeratoma of children (APACHE). (14521573)
2003
19
Cutaneous variant of angiokeratoma corporis diffusum. (12639471)
2003
20
Angiokeratoma circumscriptum naeviforme: rare presentation on the neck. (11903167)
2001
21
Blue rubber bleb nevus syndrome associated with diffuse angiokeratoma. (9169267)
1997
22
Angiokeratoma corporis diffusum associated with beta-mannosidase deficiency. (8859034)
1996
23
Angiokeratoma of scrotum (fordyce). (20947972)
1996
24
Angiokeratoma of Fordyce: a cause of scrotal bleeding. (8012789)
1994
25
Manifestation of angiokeratoma diffusum in a girl patient with heterozygous genotype for Fabry disease. (3151983)
1988-1989
26
Ultrastructure of angiokeratoma vulvae. (2449019)
1988
27
Angiokeratoma circumscriptum: successful treatment with the argon laser. (3281548)
1988
28
Hemangiectatic hypertrophy with angiokeratoma circumscriptum. (2831161)
1988
29
Angiokeratoma corporis naeviforme. (6714505)
1984
30
Angiokeratoma circumscriptum of the index finger in a child. (7465672)
1981
31
Angiokeratoma corporis diffusum with features of a mucopolysaccharidosis. (6767848)
1980
32
Angiokeratoma corporis diffusum with alpha-L-fucosidase deficiency. (4634000)
1973
33
Ocular manifestations in angiokeratoma corporis diffusum (Fabry). (5124844)
1971
34
Angiokeratoma of the scrotum (Fordyce). A case report on response to surgical treatment of varicocele. (4193223)
1970
35
Angiokeratoma corporis diffusum. (Fabry's disease). (4184280)
1969
36
Angiokeratoma corporis diffusum universale (Fabry's disease) in female subjects. (6018535)
1967
37
Angiokeratoma circumscriptum. (6075783)
1967
38
Thrombosed angiokeratoma simulating malignant melanoma. (5910881)
1966
39
ANGIOKERATOMA CORPORIS DIFFUSUM UNIVERSALE (FABRY'S DISEASE) WITH MITRAL STENOSIS. (14286819)
1965
40
ANGIOKERATOMA CORPORIS DIFFUSUM (FABRY). HISTOCHEMICAL AND ELECTRON MICROSCOPIC STUDIES OF THE SKIN. (14258908)
1965
41
ANGIOKERATOMA CORPORIS DIFFUSUM (FABRY'S SYNDROME). (14237812)
1964
42
The renal lesion in angiokeratoma corporis diffusum (Fabry's disease). (13953819)
1963
43
Angiokeratoma corporis diffusum--a case report. (13718928)
1961
44
Angiokeratoma circumscriptum and angiokeratoma scroti. Report of a case. (13805123)
1960
45
The renal lesion in angiokeratoma corporis diffusum. (13536474)
1958
46
Angiokeratoma. (14810209)
1951
47
Abortive form or early form of angiokeratoma. (18893677)
1948
48
Angiokeratoma corporis diffusum (universale) Fabry, as a sign of an unknown internal disease; two autopsy reports. (18897399)
1947
49
Angiokeratoma (Mibelli). (19990449)
1935
50
Angiokeratoma. (19979091)
1916

Genetic Variations for Angiokeratoma

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Expression for genes affiliated with Angiokeratoma

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Angiokeratoma

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Pathways for genes affiliated with Angiokeratoma

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29KEGG, 53Reactome
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Pathways related to Angiokeratoma according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7NAGA, GLA
2
Hide members
9.4GLA, CTSA
38.6AGA, MANBA, FUCA1, FUCA2
47.7FUCA1, NAGA, GLA, MANBA, AGA, CTSA

Compounds for genes affiliated with Angiokeratoma

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Sources:
44Novoseek, 59Tocris Bioscience, 11DrugBank, 24HMDB
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Compounds related to Angiokeratoma according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
11-deoxynojirimycin44 59 1111.7FUCA1, GLA
2l-fucose44 2410.7FUCA2, FUCA1
3glycolipid449.6NAGA, GLA
4glutaraldehyde449.6GLA, FUCA1
5n-acetylglucosamine449.5AGA, NAGA, FUCA1
6carbon449.4GLA, NAGA, FUCA1
7ganglioside449.3FUCA1, GLA
8mannose449.3FUCA1, GLA, MANBA
9aspartate448.9KRIT1, GLA, AGA
10methionine448.9FUCA1, KRIT1, GLA
11mannose 6-phosphate44 249.9FUCA1, GLA, AGA, CTSA

GO Terms for genes affiliated with Angiokeratoma

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16Gene Ontology
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Cellular components related to Angiokeratoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lysosomal lumenGO:0432029.4GLA, CTSA
2lysosomeGO:0057646.9FUCA2, FUCA1, NAGA, GLA, MANBA, AGA

Biological processes related to Angiokeratoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1glycosylceramide catabolic processGO:0464779.8NAGA, GLA
2glycoside catabolic processGO:0161399.8NAGA, GLA
3oligosaccharide metabolic processGO:0093119.6GLA, NAGA
4fucose metabolic processGO:0060049.5FUCA2, FUCA1
5sphingolipid metabolic processGO:0066659.4GLA, CTSA
6glycosphingolipid metabolic processGO:0066879.1GLA, CTSA

Molecular functions related to Angiokeratoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1alpha-galactosidase activityGO:0045579.6NAGA, GLA
2fucose bindingGO:0428069.5FUCA2, FUCA1
3alpha-L-fucosidase activityGO:0045609.2FUCA2, FUCA1

Products for genes affiliated with Angiokeratoma

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  • Antibodies
  • Proteins
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  • Antibodies

Sources for Angiokeratoma

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet