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 kidney, and related mouse phenotypes are renal/urinary system and liver/biliary system.

Aliases & Classifications for Angiokeratoma

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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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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:

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Drug clinical trials:

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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, Kidney, Skeletal muscle, 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
Angiokeratoma corporis diffusum in a patient with Hodgkin lymphoma: a new paraneoplastic skin manifestation? (23278357)
2013
2
A giant angiokeratoma of Fordyce: an uncommon cause of acute scrotum. (24051154)
2013
3
Angiokeratoma circumscriptum of the tongue. (22565076)
2012
4
Late-onset Fabry disease associated with angiokeratoma of Fordyce and multiple cherry angiomas. (21457158)
2011
5
A family with Fabry disease diagnosed by a single angiokeratoma. (21549080)
2011
6
Angiokeratoma of the vulva. (21603817)
2011
7
Angiokeratoma circumscriptum of the tongue. (21463157)
2011
8
Angiokeratoma regression in a Fabry disease after treatment with agalsidase-beta: clinical effectiveness marker? (19925601)
2010
9
Angiokeratoma of the scrotum: a case of scrotal bleeding. (16988295)
2006
10
Fucosidosis with angiokeratoma. Immunohistochemical & electronmicroscopic study of a new case and literature review. (16008696)
2005
11
Acral pseudolymphomatous angiokeratoma of children (APACHE). (16008651)
2005
12
Angiokeratoma corporis diffusum (Fabry disease). (16403380)
2005
13
Unilateral angiokeratoma scroti: a rare manifestation of a vascular tumor. (14739502)
2004
14
Beta-mannosidosis with angiokeratoma corporis diffusum. (15729869)
2004
15
Papular xanthoma associated with angiokeratoma of Fordyce: considerations on the nosography of this rare non-Langerhans cell histiocytoxanthomatosis. (12592087)
2003
16
Angiokeratoma circumscriptum of the tongue. (12657024)
2003
17
Vulvar angiokeratoma following radical hysterectomy and radiotherapy. (12027822)
2002
18
Acral pseudolymphomatous angiokeratoma of children: a case with a lesion on the wrist. (12361139)
2002
19
A case of angiokeratoma. (11355663)
2001
20
Angiokeratoma corporis diffusum (Anderson-Fabry's disease): a case report. (10972099)
2000
21
Angiokeratoma circumscriptum of the oral cavity. (9833054)
1998
22
Laser treatment of recurrent vulvar angiokeratoma associated with Noonan syndrome. (8677117)
1996
23
Angiokeratoma corporis diffusum and arteriovenous fistulas with dominant transmission in the absence of metabolic disorders. (7826098)
1995
24
Angiokeratoma of the clitoris: a subtype of angiokeratoma vulvae. (1479114)
1992
25
Transepidermal elimination of thrombi in three cases of thrombotic angiokeratoma: an incidental histopathologic finding of angiokeratoma. (1791241)
1991
26
Lysosomal alpha-N-acetylgalactosaminidase deficiency, the enzymatic defect in angiokeratoma corporis diffusum with glycopeptiduria. (1907616)
1991
27
Biochemical and clinical analysis of accumulated glycolipids in symptomatic heterozygotes of angiokeratoma corporis diffusum (Fabry's disease) in comparison with hemizygotes. (2157788)
1990
28
Anderson-Fabry disease (angiokeratoma corporis diffusum universale). (2123167)
1990
29
Acral pseudolymphomatous angiokeratoma of children. (2241217)
1990
30
Solitary angiokeratoma. (3058767)
1988
31
Solitary angiokeratoma seen in a patient with pretibial epidermolysis bullosa. (3301957)
1987
32
Angiokeratoma: a cause of scrotal bleeding. (3983673)
1985
33
Diffuse angiokeratoma (Fabry's disease): Case report. (817232)
1976
34
Angiokeratoma corporis diffusum (Fabry disease). A lysosomal disease. (183606)
1976
35
A case of angiokeratoma corporis circumscriptum neviforme. (811697)
1975
36
Angiokeratoma corporis diffusum of Fabry: two cases in unrelated males. (4281331)
1971
37
Electron microscopy angiokeratoma corporis diffusum. (5771650)
1969
38
Electron-microscopical investigation of the skin in angiokeratoma corporis diffusum. (5651307)
1968
39
On the pathology of angiokeratoma corporis diffusum (Fabry). (5959840)
1966
40
A biochemical investigation of angiokeratoma corporis diffusum. (5959841)
1966
41
A MORPHOLOGICAL STUDY OF THE RENAL LESION IN ANGIOKERATOMA CORPORIS DIFFUSUM UNIVERSALE (FABRY'S DISEASE). (14300263)
1965
42
ANGIOKERATOMA CORPORIS DIFFUSUM UNIVERSALE: FABRY'S DISEASE; CASE REPORT AND REVIEW OF THE LITERATURE. (14211596)
1964
43
Angiokeratoma corporis diffusum universale (hereditary dystopic lipidosis). (14489903)
1961
44
Angiokeratoma of Mibelli. (13712473)
1961
45
Angiokeratoma corporis diffusum. (13584689)
1958
46
Angiokeratoma corporis diffusum universale (Fabry); report of a case with symptomatic improvement on menadione. (13400322)
1957
47
Angiokeratoma corporis diffusum. (13268061)
1955
48
Angiokeratoma corporis diffusum universale (Fabry); first American report of a rare disorder. (14349425)
1955
49
Systematized angiokeratoma. (18933238)
1948
50
Multiple Minute Fibro-angiomata of Face and Ears (Pringle's Disease, Darier's Type).A ? MorphA9a with Tuberculous Histology:A ? Necrobiosis Lipoidica. Mucin in Granuloma Annulare. Angiokeratoma. A Form of "Mamillated Tongue". Sarcoidosis. (20917468)
1945

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, FUCA2, FUCA1, MANBA
47.7FUCA1, CTSA, AGA, MANBA, GLA, NAGA

Compounds for genes affiliated with Angiokeratoma

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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 2410.7FUCA1, FUCA2
3glycolipid449.6NAGA, GLA
4glutaraldehyde449.6GLA, FUCA1
5n-acetylglucosamine449.5FUCA1, NAGA, AGA
6carbon449.4GLA, NAGA, FUCA1
7ganglioside449.3GLA, FUCA1
8mannose449.3FUCA1, GLA, MANBA
9aspartate448.9KRIT1, GLA, AGA
10methionine448.9KRIT1, GLA, FUCA1
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:0464779.8GLA, NAGA
2glycoside catabolic processGO:0161399.8GLA, NAGA
3oligosaccharide metabolic processGO:0093119.6GLA, NAGA
4fucose metabolic processGO:0060049.5FUCA2, FUCA1
5sphingolipid metabolic processGO:0066659.4CTSA, GLA
6glycosphingolipid metabolic processGO:0066879.1CTSA, GLA

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
  • Lysates
  • 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