MCID: ANG016
MIFTS: 37

Angiokeratoma

Categories: Cancer diseases, Cardiovascular diseases, Skin diseases

Aliases & Classifications for Angiokeratoma

MalaCards integrated aliases for Angiokeratoma:

Name: Angiokeratoma 12 54 44 15 70
Angiokeratoma of Skin 12 70
Cutaneous Angiokeratoma 12
Skin Angiokeratoma 12

Classifications:



External Ids:

Disease Ontology 12 DOID:479
MeSH 44 D000794
NCIt 50 C2874 C4488
SNOMED-CT 67 254788004 26810009
UMLS 70 C0002985 C0346075

Summaries for Angiokeratoma

MalaCards based summary : Angiokeratoma, also known as angiokeratoma of skin, is related to angiokeratoma of fordyce and kanzaki disease. An important gene associated with Angiokeratoma is NAGA (Alpha-N-Acetylgalactosaminidase), and among its related pathways/superpathways are Sphingolipid metabolism and Lysosome. Affiliated tissues include skin, tongue and endothelial, and related phenotypes are behavior/neurological and homeostasis/metabolism

Wikipedia : 73 Angiokeratoma is a benign cutaneous lesion of capillaries, resulting in small marks of red to blue color... more...

Related Diseases for Angiokeratoma

Diseases related to Angiokeratoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 144)
# Related Disease Score Top Affiliating Genes
1 angiokeratoma of fordyce 32.1 GLA ACE
2 kanzaki disease 32.0 NAGA ACE
3 angiokeratoma corporis diffusum with arteriovenous fistulas 32.0 LOC113748416 KRIT1 ANKIB1
4 angiokeratoma circumscriptum 32.0 SLC2A1 GLA
5 fucosidosis 31.7 NAGA FUCA2 FUCA1
6 galactosialidosis 31.7 NEU1 CTSA
7 fabry disease 31.2 UGCG PRKAG2 NAGA GLA FUCA1 AGA
8 lysosomal disease 30.1 NEU1 AGA
9 aspartylglucosaminuria 30.0 CTSA AGA
10 gangliosidosis 29.4 UGCG NEU1 CTSA
11 glycoproteinosis 29.4 NEU1 NAGA FUCA2 CTSA
12 lysosomal storage disease 29.4 NEU1 NAGA MANBA GLA FUCA1 CTSA
13 mucopolysaccharidosis-plus syndrome 29.1 NEU1 GLA FUCA2 FUCA1 CTSA
14 sphingolipidosis 28.9 UGCG PRKAG2 NAGA GLA ETFA CTSA
15 gm1 gangliosidosis 28.5 UGCG NEU1 GLA ETFA CTSA
16 schindler disease 11.3
17 vulvar angiokeratoma 11.3
18 angiokeratoma of mibelli 11.1
19 mannosidosis, beta a, lysosomal 11.0
20 schindler disease, type i 10.9
21 keratosis 10.4
22 hemangioma 10.3
23 verrucous hemangioma 10.2
24 cavernous malformation 10.2 LOC113748416 KRIT1 ANKIB1
25 mucopolysaccharidosis, type ivb 10.1 GLA CTSA
26 atrophic rhinitis 10.1 NEU1 CTSA
27 laryngotracheitis 10.1 FUCA2 FUCA1
28 morquio syndrome 10.1 NEU1 CTSA
29 papilloma 10.1
30 hydrops fetalis, nonimmune 10.0 NEU1 CTSA
31 varicocele 10.0
32 lymphangioma 10.0
33 vascular cancer 10.0
34 rare lymphatic malformation 10.0
35 mannosidosis, alpha b, lysosomal 10.0 MANBA FUCA2 FUCA1
36 klippel-trenaunay-weber syndrome 10.0
37 varicose veins 10.0
38 neuroaxonal dystrophy 10.0
39 purpura 10.0
40 mucolipidosis iii alpha/beta 9.9 FUCA2 FUCA1
41 hepatic tuberculosis 9.9 SLC2A1 ACE
42 lichen sclerosus et atrophicus 9.9
43 noonan syndrome 1 9.9
44 sarcoidosis 1 9.9
45 wilms tumor 1 9.9
46 congenital heart defects, hamartomas of tongue, and polysyndactyly 9.9
47 neuraminidase deficiency 9.9
48 exanthem 9.9
49 anhidrosis 9.9
50 penile cancer 9.9

Graphical network of the top 20 diseases related to Angiokeratoma:



Diseases related to Angiokeratoma

Symptoms & Phenotypes for Angiokeratoma

MGI Mouse Phenotypes related to Angiokeratoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10 ACE AGA ANKIB1 CTSA FUCA1 GLA
2 homeostasis/metabolism MP:0005376 9.9 ACE AGA ANKIB1 CTSA FUCA1 GLA
3 liver/biliary system MP:0005370 9.5 ACE AGA CTSA GLA MANBA NEU1
4 renal/urinary system MP:0005367 9.23 ACE AGA CTSA FUCA1 GLA MANBA

Drugs & Therapeutics for Angiokeratoma

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Biomarker for Fabry Disease: BioFabry AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not recruiting NCT02778295

Search NIH Clinical Center for Angiokeratoma

Cochrane evidence based reviews: angiokeratoma

Genetic Tests for Angiokeratoma

Anatomical Context for Angiokeratoma

MalaCards organs/tissues related to Angiokeratoma:

40
Skin, Tongue, Endothelial, Kidney, Skeletal Muscle, Eye, Brain

Publications for Angiokeratoma

Articles related to Angiokeratoma:

(show top 50) (show all 780)
# Title Authors PMID Year
1
Mild phenotypic expression of alpha-N-acetylgalactosaminidase deficiency in two adult siblings. 54 61
7707696 1994
2
Lysosomal alpha-N-acetylgalactosaminidase deficiency, the enzymatic defect in angiokeratoma corporis diffusum with glycopeptiduria. 54 61
1907616 1991
3
Incidental secondary findings in hemorrhoidectomy specimens: a 16-year experience from a single academic center. 61
33245989 2021
4
Dermoscopy: a valuable tool in the diagnosis of acral pseudolymphomatous angiokeratoma of children (APACHE). 61
33179767 2021
5
Inflammatory lobular hemangioma: A vascular proliferation with a prominent lymphoid component. Review of a series of 19 cases. 61
32779250 2021
6
Fabry disease: GLA deletion alters a canonical splice site in a family with neuropsychiatric manifestations. 61
33156427 2021
7
Sudden onset of nephrotic syndrome in an asymptomatic Fabry patient: a case report. 61
32924720 2020
8
Fucosidosis-Clinical Manifestation, Long-Term Outcomes, and Genetic Profile-Review and Case Series. 61
33266441 2020
9
Angiokeratoma circumscriptum. 61
33342183 2020
10
Topical sirolimus for treatment of a solitary angiokeratoma. 61
32594609 2020
11
Early indicators of disease progression in Fabry disease that may indicate the need for disease-specific treatment initiation: findings from the opinion-based PREDICT-FD modified Delphi consensus initiative. 61
33039984 2020
12
[Angiokeratoma]. 61
32359695 2020
13
Use of topical rapamycin in acral pseudolymphomatous angiokeratoma of children (APACHE): A report of two cases and review of the literature. 61
32588464 2020
14
Penile Angiokeratomas (PEAKERs) Revisited: A Comprehensive Review. 61
32506249 2020
15
Fabry disease during the COVID-19 pandemic. Why and how treatment should be continued. 61
32561366 2020
16
Analysis of the alpha galactosidase gene: mutation profile and description of two novel mutations with extensive literature review in Turkish population. 61
32813676 2020
17
Clinical course and pathological findings of two late-onset Fabry hemizygous patients including mulberry cell counts after enzyme replacement therapy. 61
32189245 2020
18
Angiokeratoma Circumscriptum on the Breast: A Case with Unusual Features. 61
32832469 2020
19
First phenotypic description of a female patient with c.610‚ÄČT > C variant of GLA: a renal-predominant presentation of Fabry disease. 61
32590976 2020
20
Eccrine angiokeratomatous hamartoma combined with solitary angiokeratoma or verrucous venous malformation: Report of two cases and comprehensive review of the literature. 61
31997363 2020
21
Klippel-Trenaunay Syndrome with Arterio-veno-lymphatic Malformation: A Rare Presentation. 61
32695703 2020
22
[Fabry disease]. 61
33058644 2020
23
Enoxaparin induced eruptive angiokeratoma, an extremely rare side effect. 61
31925666 2020
24
Recurrent arterial thrombosis in a patient with Fabry disease: case report. 61
32499824 2020
25
Angiokeratoma Corporis Diffusum: An Uncommon Case with Suspected Anderson Fabry Disease. 61
32477981 2020
26
Visual Dermatology: Angiokeratoma of Fordyce. 61
32208014 2020
27
Sclerotherapy in Angiokeratoma of the Vulva: A Cost-Effective Approach. 61
30789519 2020
28
Dermoscopic rainbow pattern: A strong clue to malignancy or just a light show? 61
33163886 2020
29
Systematic review of oral and craniofacial findings in patients with Fabry disease or Pompe disease. 61
31405600 2019
30
D-2-Hydroxyglutaric Aciduria with Enchondromatosis and Angiokeratoma Circumscriptum. 61
31890366 2019
31
A novel association between angiokeratoma corporis diffusum and acid sphingomyelinase deficiency. 61
31576605 2019
32
High-risk screening for Anderson-Fabry disease in patients with cardiac, renal, or neurological manifestations. 61
31213654 2019
33
Genital Angiokeratomas in Adult Men and Women: Prevalence and Predisposing Factors. 61
31257909 2019
34
Adolescent Vulvar Angiokeratoma Associated with Lichen Sclerosus. 61
30974213 2019
35
A Novel Homozygous Mutation in the FUCA1 Gene Highlighting Fucosidosis as a Cause of Dystonia: Case Report and Literature Review. 61
31064022 2019
36
Angiokeratomas, not everything is Fabry disease. 61
30656678 2019
37
[Current status and future prospect of enzyme replacement therapy for Fabry disease]. 61
31142708 2019
38
[Skin Lesion in Fabry Disease]. 61
30988220 2019
39
Isolated angiokeratomas of the tongue: A rare entity. 61
31169171 2019
40
A Case Report of Scrotal Rejuvenation: Laser Treatment of Angiokeratomas of the Scrotum. 61
30478818 2019
41
A Noninvasive Aid for Office-Based Gynecologists for the Diagnosis of Common External Genital Disorders. 61
31737074 2019
42
The Prevalence and Clinical Features of Fabry Disease in Hemodialysis Patients: Russian Nationwide Fabry Dialysis Screening Program. 61
30677769 2019
43
A New Case of Schindler Disease. 61
31890708 2019
44
Solitary plaque on the leg of a child: A report of two cases and a brief review of acral pseudolymphomatous angiokeratoma of children and unilesional mycosis fungoides. 61
30318629 2019
45
A new heterozygous compound mutation in the CTSA gene in galactosialidosis. 61
31044084 2019
46
[Clinical and morphological changes in the eye in Fabry's disease (a clinical case study)]. 61
31393450 2019
47
Value of the CHA2DS2-VASc score and Fabry-specific score for predicting new-onset or recurrent stroke/TIA in Fabry disease patients without atrial fibrillation. 61
29797054 2018
48
Cornea verticillata in Fabry disease. 61
30701828 2018
49
Penile Angiokeratoma (Peaker): A Distinctive Subtype of Genital Angiokeratoma. 61
30868007 2018
50
Solitary angiokeratoma of tongue: A case report and review of the literature. 61
30589018 2018

Variations for Angiokeratoma

Expression for Angiokeratoma

Search GEO for disease gene expression data for Angiokeratoma.

Pathways for Angiokeratoma

Pathways related to Angiokeratoma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.86 UGCG NEU1 GLA CTSA
2 11.33 NEU1 NAGA MANBA GLA FUCA2 FUCA1
3
Show member pathways
10.82 NAGA GLA
4 10.61 NEU1 MANBA FUCA2 FUCA1 AGA

GO Terms for Angiokeratoma

Cellular components related to Angiokeratoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.86 SLC2A1 NEU1 NAGA GLA FUCA2 FUCA1
2 lysosomal lumen GO:0043202 9.55 NEU1 MANBA GLA FUCA1 CTSA
3 azurophil granule lumen GO:0035578 9.35 GLA FUCA2 FUCA1 CTSA AGA
4 lysosome GO:0005764 9.28 NEU1 NAGA MANBA GLA FUCA2 FUCA1

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

# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.8 NEU1 MANBA GLA FUCA2 FUCA1 CTSA
2 carbohydrate metabolic process GO:0005975 9.63 NEU1 NAGA MANBA GLA FUCA2 FUCA1
3 glycosphingolipid metabolic process GO:0006687 9.62 UGCG NEU1 GLA CTSA
4 oligosaccharide metabolic process GO:0009311 9.48 NAGA GLA
5 oligosaccharide catabolic process GO:0009313 9.46 NEU1 MANBA
6 fucose metabolic process GO:0006004 9.43 FUCA2 FUCA1
7 metabolic process GO:0008152 9.43 NEU1 NAGA MANBA GLA FUCA2 FUCA1
8 glycosylceramide catabolic process GO:0046477 9.4 NAGA GLA
9 glycolipid catabolic process GO:0019377 9.37 NAGA FUCA1
10 glycoside catabolic process GO:0016139 8.92 NAGA GLA FUCA2 FUCA1

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.61 NEU1 NAGA MANBA GLA FUCA2 FUCA1
2 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.5 NAGA MANBA GLA
3 alpha-L-fucosidase activity GO:0004560 9.26 FUCA2 FUCA1
4 alpha-galactosidase activity GO:0004557 9.16 NAGA GLA
5 hydrolase activity, acting on glycosyl bonds GO:0016798 9.1 NEU1 NAGA MANBA GLA FUCA2 FUCA1

Sources for Angiokeratoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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