MCID: ANG016
MIFTS: 37

Angiokeratoma malady

Skin diseases category

Summaries for Angiokeratoma

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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 based summary: 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 Other glycan degradation. The compounds glycolipid and glycerol 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:
9Disease Ontology, 11DISEASES, 43Novoseek, 60UMLS, 38NCIt, 33MeSH, 55SNOMED-CT
See all sources

Angiokeratoma, Aliases & Descriptions:

Name: Angiokeratoma 9 11 43 60
Angiokeratoma of Skin 9 60
 
Cutaneous Angiokeratoma 9
Skin Angiokeratoma 9


Classifications:

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


External Ids:

Disease Ontology9 DOID:479
NCIt38 C2874
SNOMED-CT55 26810009, 254788004
MeSH33 D000794

Related Diseases for Angiokeratoma

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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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Drug clinical trials:

Search ClinicalTrials for Angiokeratoma

Search NIH Clinical Center for Angiokeratoma

Genetic Tests for Angiokeratoma

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Anatomical Context for Angiokeratoma

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MalaCards organs/tissues related to Angiokeratoma:

31
Skin, Tongue, Skeletal muscle, Kidney, Breast, Endothelial

Animal Models for Angiokeratoma or affiliated genes

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MGI Mouse Phenotypes related to Angiokeratoma:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.8AGA, GLA, MANBA
2MP:00053708.5AGA, GLA, MANBA

Publications for Angiokeratoma

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Articles related to Angiokeratoma:

(show top 50)    (show all 333)
idTitleAuthorsYear
1
Angiokeratoma of the nasal vestibule: a case report. (25547753)
2014
2
Angiokeratoma of vulva mimicking genital warts. (25404845)
2014
3
Angiokeratoma circumscriptum of the buccal mucosa: a case report and literature review. (25368837)
2014
4
Treatment of angiokeratoma of Mibelli alone or in combination with pulsed dye laser and long-pulsed Nd: YAG laser. (24911941)
2014
5
A case of solitary angiokeratoma successfully treated with a 1064-nm long-pulsed Nd:YAG laser. (25260142)
2014
6
Angiokeratoma circumscriptum neviforme: An entity, few and far between. (25396132)
2014
7
Angiokeratoma corporis diffusum in a patient with Hodgkin lymphoma: a new paraneoplastic skin manifestation? (23278357)
2013
8
Enzyme replacement therapy in two Japanese siblings with Fabry disease, and its effectiveness on angiokeratoma and neuropathic pain. (23906479)
2013
9
Angiokeratoma presenting as a melanoma: a case report. (23697732)
2013
10
Angiokeratoma - When is a few too many? (24104692)
2013
11
Solitary angiokeratoma on palms and soles: a clinicopathological analysis of 21 cases. (23734792)
2013
12
Unilateral angiokeratoma of fordyce. (22917529)
2013
13
Concurrent diagnosis of vulvar angiokeratoma with recurrent squamous cell carcinoma after radical vulvectomy and radiation therapy. (24371626)
2012
14
Myoclonus and angiokeratomas in adult galactosialidosis. (21312277)
2011
15
Angiokeratoma of the vulva. (22053688)
2011
16
Report of two angiokeratoma of Fordyce cases treated with a 1064 nm long-pulsed Nd:YAG laser. (19439000)
2009
17
Angiokeratoma of clitoris: a rare lesion in an adolescent girl. (18291515)
2008
18
Angiokeratoma Fordyce of the glans penis: combined treatment with erbium: YAG and 532 nm KTP (frequency doubled neodynium: YAG) laser. (15729872)
2004
19
Linear acral pseudolymphomatous angiokeratoma of children (APACHE): further evidence that APACHE is a cutaneous pseudolymphoma. (12582375)
2003
20
Vulvar angiokeratoma following radical hysterectomy and radiotherapy. (12027822)
2002
21
Comments on angiokeratoma of the tongue. (17656958)
2002
22
Severe predominantly acral variant of angiokeratoma of Mibelli: response to long-pulse Nd:YAG (1064 nm) laser treatment. (11606931)
2001
23
Angiokeratoma circumscriptum naeviforme: rare presentation on the neck. (11903167)
2001
24
Angiokeratoma of the oral cavity and scrotum. (10721665)
2000
25
Idiopathic angiokeratoma corporis diffusum. (9499615)
1997
26
Laser treatment of recurrent vulvar angiokeratoma associated with Noonan syndrome. (8677117)
1996
27
Angiokeratoma corporis diffusum with glycopeptiduria due to deficient lysosomal alpha-N-acetylgalactosaminidase activity. Clinical, morphologic, and biochemical studies. (8466216)
1993
28
Transepidermal elimination of thrombi in three cases of thrombotic angiokeratoma: an incidental histopathologic finding of angiokeratoma. (1791241)
1991
29
Biochemical and clinical analysis of accumulated glycolipids in symptomatic heterozygotes of angiokeratoma corporis diffusum (Fabry's disease) in comparison with hemizygotes. (2157788)
1990
30
Anderson-Fabry disease (angiokeratoma corporis diffusum universale). (2123167)
1990
31
Angiokeratoma of the vulva: diagnosis and review of the literature. (2657519)
1989
32
Ultrastructure of angiokeratoma vulvae. (2449019)
1988
33
Angiokeratoma circumscriptum of the index finger in a child. (7465672)
1981
34
Diffuse angiokeratoma (Fabry's disease): Case report. (817232)
1976
35
A case of angiokeratoma corporis circumscriptum neviforme. (811697)
1975
36
Angiokeratoma corporis diffusum with alpha-L-fucosidase deficiency. (4634000)
1973
37
Angiokeratoma "Circumscriptum". (4639261)
1972
38
Angiokeratoma of Mibelli with necrosis of the fingertips. (4635805)
1972
39
Angiokeratoma of the vulva. (5479313)
1970
40
Linkage relationships of the angiokeratoma (Fabry) locus. (5307232)
1969
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
19.4GLA, NAGA
28.6FUCA1, MANBA, AGA
37.5AGA, GLA, MANBA, NAGA, FUCA1

Compounds for genes affiliated with Angiokeratoma

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Sources:
43Novoseek, 24HMDB, 12DrugBank, 59Tocris Bioscience
See all sources

Compounds related to Angiokeratoma according to GeneCards Suite gene sharing:

(show all 14)
idCompoundScoreTop Affiliating Genes
1glycolipid439.6NAGA, GLA
2glycerol43 24 1211.4GLA, NAGA
31-deoxynojirimycin59 43 1211.3GLA, FUCA1
4glutaraldehyde439.2GLA, FUCA1
5ganglioside439.2GLA, FUCA1
6polysaccharide439.1MANBA, FUCA1
7n-acetylglucosamine439.0AGA, NAGA, FUCA1
8sucrose43 24 1210.9GLA, FUCA1
9carbon438.8GLA, NAGA, FUCA1
10mannose 6-phosphate43 249.8AGA, GLA, FUCA1
11mannose438.8FUCA1, MANBA, GLA
12methionine438.7GLA, FUCA1
13Water248.7GLA, NAGA, FUCA1
14glucose438.6FUCA1, NAGA, GLA

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
1lysosomeGO:00057647.5AGA, GLA, MANBA, NAGA, FUCA1

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

idNameGO IDScoreTop Affiliating Genes
1oligosaccharide metabolic processGO:00093119.4GLA, NAGA
2glycosylceramide catabolic processGO:00464779.1GLA, NAGA
3glycoside catabolic processGO:00161398.5GLA, NAGA, FUCA1

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

idNameGO IDScoreTop Affiliating Genes
1alpha-galactosidase activityGO:00045579.4GLA, NAGA

Products for genes affiliated with Angiokeratoma

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Angiokeratoma

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet