ASPS
MCID: ALV005
MIFTS: 59

Alveolar Soft Part Sarcoma (ASPS) malady

Cancer diseases category

Summaries for Alveolar Soft Part Sarcoma

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8Disease Ontology, 63Wikipedia, 46OMIM, 32MalaCards
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Disease Ontology:8 A soft tissue cancer that is a slow growing tumor of an unknown origin that effects children and effects young adults.

MalaCards: Alveolar Soft Part Sarcoma, also known as alveolar soft-part sarcoma, is related to sarcoma and osteosarcoma. An important gene associated with Alveolar Soft Part Sarcoma is ASPSCR1 (alveolar soft part sarcoma chromosome region, candidate 1), and among its related pathways are CDO in myogenesis and Regulation of nuclear SMAD2/3 signaling. The compounds creatinine and s 100 have been mentioned in the context of this disorder. Affiliated tissues include tongue, cervix and breast, and related mouse phenotypes are muscle and adipose tissue.

Wikipedia:63 Alveolar soft part sarcoma, abbreviated ASPS, is a very rare type of soft tissue sarcoma, that grows... more...

Description from OMIM:46 606243

Aliases & Classifications for Alveolar Soft Part Sarcoma

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Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 34MeSH, 39NCIt, 56SNOMED-CT, 35MESH via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer diseases


Characteristics (Orphanet epidemiological data):

48
alveolar soft-part sarcoma:
Age of onset: Variable


Aliases & Descriptions:

alveolar soft part sarcoma 8 42 10 60
alveolar soft-part sarcoma 9 46 48
pediatric alveolar soft part sarcoma 8
childhood alveolar soft part sarcoma 8
childhood alveolar soft-part sarcoma 60
adult alveolar soft part sarcoma 8
adult alveolar soft-part sarcoma 60
sarcoma alveolar soft part 44
asps 42


External Ids:

Disease Ontology8 DOID:4239
MeSH34 D018234
NCIt39 C3750
OMIM46 606243
MESH via Orphanet35 D018234
SNOMED-CT via Orphanet57 404056007, 88195001
UMLS via Orphanet61 C0206657

Related Diseases for Alveolar Soft Part Sarcoma

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Alveolar Soft Part Sarcoma via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 142)
idRelated DiseaseScoreTop Affiliating Genes
1sarcoma32.3ENO2, S100A1, CTAG1B, TFE3, MET, DES
2osteosarcoma30.4MET, MYOD1
3granular cell tumor30.4S100A1, DES, ENO2
4alveolar rhabdomyosarcoma30.4DES, MYOD1, MYOG, ENO2
5chondrosarcoma30.4S100A1, MET, DES, ENO2
6adenoma30.4ENO2, MYOD1, MET, S100A1
7rhabdomyosarcoma30.4S100A1, MET, DES, MYOD1, MYF6, MYOG
8breast cancer30.4S100A1, CTAG1B, MET, ECM1, ADAM9
9lung cancer30.3S100A1, CTAG1B, MET, CYGB, ENO2
10neuroblastoma30.0ENO2
11melanoma30.0S100A1, CTAG1B, MET, DES, MYOD1, SLC16A1
12breast sarcoma10.7
13vagina sarcoma10.7
14cervical alveolar soft part sarcoma10.6
15brain sarcoma10.6
16lung sarcoma10.6
17cerebritis10.6
18vulvar alveolar soft part sarcoma10.6
19renal cell carcinoma10.6
20paraganglioma10.5
21larynx sarcoma10.5
22thalassemia10.5
23urethritis10.4
24bladder sarcoma10.4
25liver sarcoma10.4
26meninges sarcoma10.4
27meningitis10.4
28uterine corpus sarcoma10.4
29alpha thalassemia10.4
30aspergillosis10.4
31beta thalassemia10.3
32allergic bronchopulmonary aspergillosis10.3
33male breast cancer10.3
34myositis ossificans10.3
35clear cell sarcoma10.3
36myeloid sarcoma10.3
37duodenitis10.3
38clear cell chondrosarcoma10.3
39cervicitis10.3
40eosinophilia10.3
41hemangioma10.3
42liver disease10.3
43mediastinum sarcoma10.3
44meningioma10.3
45myositis10.3
46pancreatitis10.3
47pituitary adenoma10.3
48respiratory failure10.3
49retroperitoneal sarcoma10.3
50skin sarcoma10.3

Graphical network of the top 20 diseases related to Alveolar Soft Part Sarcoma:



Diseases related to alveolar soft part sarcoma

Clinical Features for Alveolar Soft Part Sarcoma

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Sources:
46OMIM
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Clinical features from OMIM:

606243

Drugs & Therapeutics for Alveolar Soft Part Sarcoma

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

Search CenterWatch for Alveolar Soft Part Sarcoma

Drug clinical trials:

Search ClinicalTrials for Alveolar Soft Part Sarcoma

Search NIH Clinical Center for Alveolar Soft Part Sarcoma

Search CenterWatch for Alveolar Soft Part Sarcoma

Genetic Tests for Alveolar Soft Part Sarcoma

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Anatomical Context for Alveolar Soft Part Sarcoma

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Sources:
32MalaCards
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MalaCards organs/tissues related to Alveolar Soft Part Sarcoma:

32
Tongue, Cervix, Breast, Bone, Skeletal muscle, Brain, Lung, Uterus, Lymph node, Liver, Pituitary, Myeloid, Endothelial, Skin

Animal Models for Alveolar Soft Part Sarcoma or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Alveolar Soft Part Sarcoma:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000536910.0MYF6, MYOD1, TRIM63, MET
2MP:00053759.7ANGPTL2, TRIM63, MYOD1, MYF6, MYOG
3MP:00028739.6ADAM9, S100A1, TFE3, MET, MYOD1, MYF6
4MP:00053889.4MET, TRIM63, MYOD1, MYF6, MYOG, ENO2
5MP:00107689.4MET, DES, TRIM63, ECM1, MYOD1, MYF6

Publications for Alveolar Soft Part Sarcoma

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50PubMed
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Articles related to Alveolar Soft Part Sarcoma:

(show top 50)    (show all 384)
idTitleAuthorsYear
1
Molecular cytogenetic analysis for TFE3 rearrangement in Xp11.2 renal cell carcinoma and alveolar soft part sarcoma: validation and clinical experience with 75 cases. (23828314)
2014
2
Pathology quiz case 1: alveolar soft-part sarcoma (ASPS) of the anterior tonsillar pillar. (20479388)
2010
3
Primary alveolar soft part sarcoma of vertebra: a case report and literature review. (19347336)
2009
4
Minute alveolar soft part sarcoma of the endocervix: the smallest ever published case. (19620840)
2009
5
Crystal-deficient alveolar soft-part sarcoma with cutaneous involvement: a case report. (19384069)
2009
6
Alveolar soft part sarcoma in the region of the axilla: a case report. (19195950)
2009
7
Validation of potential therapeutic targets in alveolar soft part sarcoma: an immunohistochemical study utilizing tissue microarray. (20002771)
2009
8
Alveolar soft-part sarcoma of the extremity: a case report. (19158970)
2008
9
MRI of alveolar soft-part sarcoma. (17056231)
2006
10
A proposed explanation for female predominance in alveolar soft part sarcoma. Noninactivation of X; autosome translocation fusion gene? (15693033)
2005
11
Alveolar soft part sarcoma: a rare and enigmatic entity. (16131883)
2005
12
Alveolar soft-part sarcoma of the orbit. (15305538)
2004
13
Alveolar soft part sarcoma--reciprocal translocation between chromosome 17q25 and Xp11. Report of a case with metastases at presentation and review of the literature. (12769020)
2003
14
Metastatic alveolar soft-part sarcoma of the intracranial skull base: case report. (17167641)
2002
15
Alveolar soft part sarcoma. a report of 15 cases. (12091061)
2002
16
Pancreatic metastasis of alveolar soft-part sarcoma: a case report and review of the literature. (11484966)
2001
17
Alveolar soft part sarcoma of the tongue. Report of a case. (11071242)
2000
18
Alveolar soft part sarcoma in children and adolescents: A report from the Soft-Tissue Sarcoma Italian Cooperative Group. (11142485)
2000
19
Primary alveolar soft part sarcoma of the stomach: a case report and review. (10926330)
2000
20
Alveolar soft part sarcoma of the tongue: report of an unusual pattern in a child. (10556480)
1999
21
Alveolar soft part sarcoma: review of nine cases including two cases with unusual histology. (9522219)
1998
22
Ultrastructural studies of tubules, analogous to skeletal cell T-tubules, in alveolar soft part sarcoma. (9683767)
1998
23
Alveolar soft part sarcoma: report of a case occurring in the larynx. (9419114)
1997
24
Alveolar soft part sarcoma metastatic to the breast. (8606550)
1996
25
Alveolar soft part sarcoma. Report of a case diagnosed by needle aspiration cytology and electron microscopy. (7571976)
1995
26
Alveolar soft part sarcoma of the uterus: case report and review of the literature. (8020846)
1994
27
Smooth tubular aggregates associated with plasmalemmal invagination in alveolar soft part sarcoma. (8066828)
1994
28
Immunophenotype and ultrastructure of alveolar soft part sarcoma. (8402538)
1993
29
Alveolar soft part sarcoma. Is there a definite diagnostic criterion for this entity? (1733353)
1992
30
Primary alveolar soft-part sarcoma of stomach. (2006720)
1991
31
Retroperitoneal sarcoma with features suggestive of alveolar soft part sarcoma. (1755109)
1991
32
Alveolar soft-part sarcoma of the tongue. Report of a case. (2111358)
1990
33
Alveolar soft part sarcoma: a case report with immunohistochemical study. (2201814)
1990
34
Alveolar soft part sarcoma of the uterus. (2307424)
1990
35
The radiologic manifestations of alveolar soft-part sarcoma. (2750619)
1989
36
Lingual metastasis of alveolar soft-part sarcoma. (3041338)
1988
37
Alveolar soft-part sarcoma of the female genital tract. Case report with ultrastructural findings. (3566357)
1987
38
Alveolar soft part sarcoma of the uterus. (2419237)
1986
39
Alveolar soft part sarcoma. An elaboration of a three-dimensional configuration of the crystalloids by digital image processing. (6476077)
1984
40
Alveolar soft-part sarcoma of the tongue. Report of a case with electron microscopic study. (6587301)
1984
41
Alveolar soft part sarcoma of the vulva: report of first case and review of literature. (7060986)
1982
42
Alveolar soft part sarcoma of the head and neck. (459663)
1979
43
Alveolar soft part sarcoma: a report of two cases with some histochemical and ultrastructural observations. (445359)
1979
44
Alveolar soft part sarcoma. Report of a case. (605739)
1977
45
Non-myogenic tumors involving skeletal muscle. A survey with special reference to alveolar soft part sarcoma. (169726)
1975
46
Alveolar soft-part sarcoma. (4524369)
1974
47
Cerebral manifestations of alveolar soft-part sarcoma. (5548662)
1971
48
Alveolar soft part sarcoma. (4981638)
1969
49
Alveolar soft part sarcoma. (6035750)
1967
50
Alveolar soft-part sarcoma of the gluteal region. (14413392)
1960

Genetic Variations for Alveolar Soft Part Sarcoma

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Expression for genes affiliated with Alveolar Soft Part Sarcoma

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Alveolar Soft Part Sarcoma

Search GEO for disease gene expression data for Alveolar Soft Part Sarcoma.

Pathways for genes affiliated with Alveolar Soft Part Sarcoma

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Sources:
53Reactome, 37NCBI BioSystems Database, 12EMD Millipore, 29KEGG
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Compounds for genes affiliated with Alveolar Soft Part Sarcoma

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Sources:
44Novoseek, 11DrugBank, 24HMDB, 49PharmGKB, 28IUPHAR, 59Tocris Bioscience
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Compounds related to Alveolar Soft Part Sarcoma according to GeneCards/GeneDecks:

(show all 22)
idCompoundScoreTop Affiliating Genes
1creatinine4410.5MYF6, MYOD1
2s 1004410.5ENO2, DES
3estrogen4410.4MYOG, MYOD1
4toluidine4410.4ENO2, DES, S100A1
5hematoxylin4410.3S100A1, DES, ENO2
6silver4410.2ENO2, DES, S100A1
7bromodeoxyuridine4410.2DES, MYOD1, MYOG, ENO2
8mucicarmine4410.2S100A1, DES
9biotin44 11 2412.2SLC16A1, DES, S100A1
1012-o-tetradecanoylphorbol 13-acetate4410.2MET, DES, MYOD1, MYOG
11iron44 2411.1S100A1, DES, TRIM63, CYGB, ENO2
12acetylcholine44 49 28 11 2414.0S100A1, DES, MYOD1, MYF6, MYOG, ENO2
13paraffin4410.0S100A1, MET, DES, MYOD1, MYOG, ENO2
14testosterone44 59 11 2412.9MET, DES, MYOD1, MYOG, ENO2
15glucose449.9TFE3, MET, DES, MYOD1, MYOG, SLC16A1
16oxygen44 2410.9MET, DES, MYOD1, MYOG, CYGB, ENO2
17retinoic acid44 2410.9S100A1, MET, DES, TRIM63, MYOD1, MYOG
18cysteine449.9S100A1, MET, DES, MYOD1, MYOG, CYGB
19glycogen44 2410.9S100A1, MET, DES, ENO2
20nitric oxide44 11 2411.8ENO2, S100A1, MET, DES, TRIM63, MYOG
21tyrosine449.6MET, DES, TRIM63, MYOD1, MYOG, ENO2
22calcium44 49 11 2412.1S100A1, MET, DES, NTSR2, MYOD1, MYOG

GO Terms for genes affiliated with Alveolar Soft Part Sarcoma

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16Gene Ontology
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Biological processes related to Alveolar Soft Part Sarcoma according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1response to electrical stimulus involved in regulation of muscle adaptationGO:01487810.3MYOG, TRIM63
2muscle cell fate commitmentGO:04269310.2MYOG, MYF6, MYOD1
3cellular response to estradiol stimulusGO:07139210.2MYOG, MYOD1
4positive regulation of muscle cell differentiationGO:05114910.2TCF3, MYOG, MYF6, MYOD1
5muscle cell differentiationGO:04269210.1MYOD1, MYF6, MYOG, TCF3
6skeletal muscle tissue developmentGO:00751910.1MYOD1, MYF6, MYOG
7skeletal muscle fiber developmentGO:0487419.9MYOG, MYOD1
8positive regulation of transcription from RNA polymerase II promoterGO:0459449.7TFE3, MET, MYOD1, MYF6, MYOG, TCF3

Molecular functions related to Alveolar Soft Part Sarcoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein heterodimerization activityGO:04698210.0TCF3, MYOG, MYF6, MYOD1
2laminin bindingGO:04323610.0ECM1, ADAM9
3E-box bindingGO:0708889.9TCF3, MYOG, MYF6, MYOD1

Products for genes affiliated with Alveolar Soft Part Sarcoma

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  • Antibodies
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Sources for Alveolar Soft Part Sarcoma

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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