MCID: ALV010
MIFTS: 64

Alveolar Soft-Part Sarcoma malady

Genetic diseases, Rare diseases, Cancer diseases categories

Summaries for Alveolar Soft-Part Sarcoma

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OMIM:47 Alveolar soft part sarcoma is an unusual tumor with highly characteristic histopathology and ultrastructure,... (606243) more...

MalaCards based summary: Alveolar Soft-Part Sarcoma, also known as alveolar soft part sarcoma, is related to sarcoma and renal cell carcinoma, and has symptoms including somatic mutationand alveolar soft part sarcoma. 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 Transcriptional misregulation in cancer and Alpha6-Beta4 Integrin Signaling Pathway. The compounds orcein and s 100 have been mentioned in the context of this disorder. Affiliated tissues include tongue, cervix and breast, and related mouse phenotypes are vision/eye and craniofacial.

Disease Ontology:10 A soft tissue cancer that is a slow growing tumor of an unknown origin that effects children and effects young adults.

Wikipedia:65 Alveolar soft part sarcoma, abbreviated ASPS, is a very rare type of soft tissue sarcoma, that grows... more...

Aliases & Classifications for Alveolar Soft-Part Sarcoma

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Sources:
47OMIM, 10Disease Ontology, 11diseasecard, 43NIH Rare Diseases, 12DISEASES, 45Novoseek, 49Orphanet, 40NCIt, 57SNOMED-CT, 62UMLS, 35MeSH, 36MESH via Orphanet, 63UMLS via Orphanet
See all sources

Alveolar Soft-Part Sarcoma, Aliases & Descriptions:

Name: Alveolar Soft-Part Sarcoma 47 11 43 49
Alveolar Soft Part Sarcoma 47 10 43 12
Alveolar Soft-Tissue Sarcoma 43 49
Asps 43 49
 
Childhood Alveolar Soft Part Sarcoma 10
Pediatric Alveolar Soft Part Sarcoma 10
Adult Alveolar Soft Part Sarcoma 10
Sarcoma Alveolar Soft Part 45


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Cancer diseases
Orphanet: 49 
Rare tumors


Characteristics (Orphanet epidemiological data):

49
alveolar soft-part sarcoma:
Age of onset: All ages


External Ids:

OMIM47 606243
Disease Ontology10 DOID:4239
NCIt40 C3750
MeSH35 D018234
Orphanet49 163699
MESH via Orphanet36 D018234
UMLS via Orphanet63 C0206657

Related Diseases for Alveolar Soft-Part Sarcoma

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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 107)
idRelated DiseaseScoreTop Affiliating Genes
1sarcoma32.4DES, TFE3, VIM, MYOD1, MET, ENO2
2renal cell carcinoma31.0MET, TFE3
3granular cell tumor30.7DES, VIM, ENO2
4adenoma30.4IGFBP1, MYOD1, PRL, MET, ENO2
5rhabdomyosarcoma30.4DES, SMAD3, VIM, MYF6, MYOD1, MET
6breast cancer30.3IGFBP1, ECM1, SMAD3, HIF1A, PRL, MET
7vulvar alveolar soft part sarcoma10.6
8cervical alveolar soft part sarcoma10.6
9cerebritis10.6
10sinusitis10.6
11paraganglioma10.6
12meningitis10.6
13soft tissue sarcoma10.6
14urethritis10.5
15hemangioma10.3
16vulvovaginitis10.3
17myositis ossificans10.3
18clear cell sarcoma10.3
19duodenitis10.3
20cervicitis10.3
21eosinophilia10.3
22mediastinitis10.3
23myositis10.3
24pancreatitis10.3
25pituitary adenoma10.3
26prostatitis10.3
27respiratory failure10.3
28retroperitoneal sarcoma10.3
29vaginitis10.3
30endotheliitis10.3
31translocation renal cell carcinoma10.3
32perivascular epithelioid cell tumor10.1TFE3
33infantile myofibromatosis10.1DES
34epulis10.1ENO2
35subependymal giant cell astrocytoma10.1ENO2
36myopathy, centronuclear10.1DES
37neurilemmoma10.1ENO2
38ewing's family of tumors10.1ENO2
39peripheral primitive neuroectodermal tumor10.1ENO2
40adenomatoid tumor10.1VIM
41embryonal rhabdomyosarcoma10.0DES, MYOD1
42chordoma10.0VIM, DES
43epithelioid leiomyosarcoma10.0VIM, DES
44mesenchymal chondrosarcoma10.0DES, VIM
45pseudosarcomatous fibromatosis10.0DES, VIM
46spindle cell carcinoma10.0DES, VIM
47spindle cell sarcoma10.0VIM, DES
48dermatofibrosarcoma protuberans10.0DES, VIM
49fibrous histiocytoma10.0DES, VIM
50endometrial stromal sarcoma10.0DES, VIM

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



Diseases related to alveolar soft-part sarcoma

Symptoms for Alveolar Soft-Part Sarcoma

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Clinical features from OMIM:

606243

HPO human phenotypes related to Alveolar Soft-Part Sarcoma:

id Description Frequency HPO Source Accession
1 somatic mutation HP:0001428
2 alveolar soft part sarcoma HP:0012218

Drugs & Therapeutics for Alveolar Soft-Part Sarcoma

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Drug clinical trials:

Search ClinicalTrials for Alveolar Soft-Part Sarcoma

Search NIH Clinical Center 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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MalaCards organs/tissues related to Alveolar Soft-Part Sarcoma:

33
Tongue, Cervix, Breast, Bone, Brain, Skeletal muscle, Lung, Uterus, Lymph node, Liver, Pituitary, Kidney, Skin, Prostate, Myeloid, Endothelial

Animal Models for Alveolar Soft-Part Sarcoma or affiliated genes

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Publications for Alveolar Soft-Part Sarcoma

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Articles related to Alveolar Soft-Part Sarcoma:

(show top 50)    (show all 402)
idTitleAuthorsYear
1
Imaging features of alveolar soft-part sarcoma: a report from Children's Oncology Group Study ARST0332. (25415714)
2014
2
Alveolar soft part sarcoma arising from the kidney: imaging and clinical features. (24843244)
2014
3
Management of recurrent alveolar soft-part sarcoma of the tongue after external beam radiotherapy with iodine-125 seed brachytherapy. (24585519)
2014
4
Imaging Findings and Histologic Appearances of Alveolar Soft Part Sarcoma in the Prostate: A Case Report and Review of the Literature. (25604914)
2014
5
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
6
Lung metastasis of primary alveolar soft-part sarcoma occurring 20 years after initial treatment. (24379977)
2013
7
Alveolar soft part sarcoma 'revisited': clinicopathological review of 47 cases from a tertiary cancer referral centre, including immunohistochemical expression of TFE3 in 22 cases and 21 other tumours. (22173238)
2012
8
Alveolar soft part sarcoma of the uterine cervix in a woman presenting with postmenopausal bleeding: a case report and literature review. (21797137)
2011
9
Long term survival in a metastatic alveolar soft part sarcoma at the time of diagnosis: a case with 17 years of follow-up. (21766518)
2011
10
Duodenal metastasis of alveolar soft part sarcoma. (22191294)
2011
11
Necrosis of a skin autograft after short-term treatment with sunitinib in a 14-year-old girl with metastatic alveolar soft part sarcoma of the thigh. (20514624)
2010
12
Successful sequential antiangiogenic therapy for alveolar soft part sarcoma - a case report. (20557847)
2010
13
Pathology quiz case 1: alveolar soft-part sarcoma (ASPS) of the anterior tonsillar pillar. (20479388)
2010
14
Expression of MET in alveolar soft part sarcoma. (19472090)
2010
15
Orbital alveolar soft part sarcoma: Histopathologic report of two cases. (23960876)
2010
16
Bone scintigraphic images of a patient with unusual metastatic alveolar soft-part sarcoma. (19851182)
2009
17
Primary alveolar soft part sarcoma of vertebra: a case report and literature review. (19347336)
2009
18
Acute respiratory failure in a 16-yr-old girl with alveolar soft part sarcoma]. (19469095)
2008
19
Alveolar soft-part sarcoma of the retroperitoneum. (17010020)
2006
20
Vascular-endothelial-growth-factor (VEGF) expression and possible response to angiogenesis inhibitor bevacizumab in metastatic alveolar soft part sarcoma. (16750504)
2006
21
Interferon alpha for alveolar soft part sarcoma. (15602705)
2005
22
Soft tissue sarcomas. Case 2. Orbital alveolar soft part sarcoma in a child. (15143097)
2004
23
Alveolar soft part sarcoma in Japan: multi-institutional study of 57 patients from the Japanese Musculoskeletal Oncology Group. (12837977)
2003
24
Alveolar soft part sarcoma: a unique tumor with disputed histogenesis. (14716125)
2003
25
Updates on the cytogenetics and molecular genetics of bone and soft tissue tumors: alveolar soft part sarcoma. (12165444)
2002
26
Metastatic alveolar soft-part sarcoma of the intracranial skull base: case report. (17167641)
2002
27
Alveolar soft part sarcoma: are we at the end or just the beginning of our quest? (11943703)
2002
28
Cytogenetic abnormalities of alveolar soft-part sarcomas using interphase fluorescent in situ hybridization: trisomy for chromosome 7 and monosomy for chromosomes 8 and 18 seem to be characteristic of the tumor. (11253120)
2001
29
RT-PCR suggests human skeletal muscle origin of alveolar soft-part sarcoma. (10838498)
2000
30
Alveolar soft part sarcoma of the tongue. Report of a case. (11071242)
2000
31
Alveolar soft part sarcoma of the tongue. (10687905)
1999
32
Alveolar soft-part sarcoma: further evidence by FISH for the involvement of chromosome band 17q25. (9739024)
1998
33
Alveolar soft part sarcoma: review of nine cases including two cases with unusual histology. (9522219)
1998
34
Intracytoplasmic crystals of alveolar soft part sarcoma: demonstration by Riu's stain. (9250326)
1997
35
Trisomy 8 in alveolar soft part sarcoma. (7773967)
1995
36
Crystal-deficient alveolar soft part sarcoma. (8266593)
1993
37
Alveolar soft part sarcoma: a clinicopathologic and immunohistochemical study of 13 cases]. (1452160)
1992
38
Alveolar soft part sarcoma: an analysis of 8 cases. Review of the literature. (1845480)
1991
39
Alveolar soft-part sarcoma of the tongue. Report of a case. (2111358)
1990
40
Alveolar soft part sarcoma of the nasal cavity: report of a case and a review of the literature. (3054374)
1988
41
Alveolar soft part sarcoma: immunological evidence of rhabdomyoblastic differentiation. (3209185)
1988
42
Alveolar soft-part sarcoma: a hormone-sensitive tumour? (3200782)
1988
43
Fine needle aspiration cytology of alveolar soft-part sarcoma. A case report. (3861045)
1985
44
Alveolar soft part sarcoma of the uterine cervix. (4054722)
1985
45
Alveolar soft part sarcoma following radiotherapy for a spinal hemangioma. A case report. (6722724)
1984
46
Alveolar soft-part sarcoma in the oral cavity: report of a case. (1059755)
1976
47
Alveolar soft-part sarcoma. (4524369)
1974
48
Alveolar soft-part sarcoma. Report of a case presenting as a sacral bone tumor. (5762710)
1969
49
Alveolar soft-part sarcoma. (5770452)
1969
50
Malignant nonchromaffin paraganglioma or alveolar soft-part sarcoma in the temporal region. (6074147)
1967

Variations for Alveolar Soft-Part Sarcoma

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Expression for genes affiliated with Alveolar Soft-Part Sarcoma

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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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Compounds for genes affiliated with Alveolar Soft-Part Sarcoma

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Compounds related to Alveolar Soft-Part Sarcoma according to GeneCards/GeneDecks:

(show top 50)    (show all 100)
idCompoundScoreTop Affiliating Genes
1orcein459.9VIM, DES
2s 100459.8ENO2, VIM, DES
3toluidine459.8DES, VIM, ENO2
42-deoxyglucose45 1310.5NPY, HIF1A, IGFBP1
5adriamycin459.5MET, VIM, HIF1A, DES
6hematoxylin459.4ENO2, VIM, DES
7progestin459.4PRL, VIM, IGFBP1, DES
8formaldehyde45 2610.3DES, VIM, ENO2, NPY
9proline459.3MET, VIM, HIF1A, TFE3, DES
10matrigel459.2SMAD3, HIF1A, VIM, MET
11octreotide45 61 30 1312.1IGFBP1, PRL, ENO2, NPY
12glycogen45 2610.1DES, IGFBP1, VIM, MET, ENO2
135-hydroxytryptamine459.0VIM, PRL, ENO2, NPY
14acth459.0NPY, ENO2, PRL, IGFBP1
15rapamycin459.0IGFBP1, SMAD3, HIF1A, VIM, MET
16ribonucleic acid459.0ENO2, MET, PRL, IGFBP1
17etoposide45 51 61 1311.9SMAD3, HIF1A, VIM, ENO2
18indomethacin45 30 61 1311.9IGFBP1, VIM, ENO2, NPY
19cycloheximide458.9IGFBP1, SMAD3, HIF1A, VIM, MET
20gnrh458.9IGFBP1, SMAD3, VIM, PRL, NPY
21bromodeoxyuridine458.9ENO2, MYOD1, VIM, DES
22norepinephrine45 26 1310.9DES, IGFBP1, PRL, ENO2, NPY
23heparin45 30 26 1311.8DES, IGFBP1, VIM, MET, ENO2, NPY
24h2o2458.7DES, CYGB, HIF1A, VIM, ADAM9
2512-o-tetradecanoylphorbol 13-acetate458.7DES, VIM, MYOD1, MET
26dihydrotestosterone45 30 26 1311.6DES, IGFBP1, SMAD3, HIF1A, VIM, PRL
27lactate458.6DES, IGFBP1, HIF1A, VIM, ENO2, NPY
28thymidine45 269.6DES, IGFBP1, SMAD3, HIF1A, MET, ENO2
29progesterone45 30 61 26 1312.6DES, IGFBP1, VIM, PRL, MET, ENO2
30iron45 269.6DES, CYGB, HIF1A, VIM, ENO2
31actinomycin d458.4DES, IGFBP1, HIF1A, VIM, MYOD1, MET
32acetylcholine45 51 30 26 1312.4DES, VIM, MYF6, MYOD1, ENO2, NPY
33threonine458.2DES, IGFBP1, SMAD3, HIF1A, MYOD1, MET
34leucine458.2TFE3, IGFBP1, SMAD3, VIM, MYOD1, ENO2
35butyrate458.1MYOD1, VIM, HIF1A, SMAD3
36creatinine458.0DES, IGFBP1, VIM, MYF6, MYOD1, ENO2
37atp45 308.9HIF1A, VIM, MYOD1, MET, ENO2, NPY
38paraffin457.9DES, HIF1A, VIM, MYOD1, MET, ENO2
39serine457.8DES, IGFBP1, SMAD3, HIF1A, VIM, MYOD1
40cysteine457.8DES, IGFBP1, CYGB, HIF1A, VIM, MYOD1
41nitric oxide45 26 139.7DES, IGFBP1, CYGB, SMAD3, HIF1A, MET
42arginine457.5DES, IGFBP1, HIF1A, VIM, MYOD1, PRL
43retinoic acid45 268.5DES, IGFBP1, HIF1A, VIM, MYOD1, MET
44vegf457.5DES, IGFBP1, SMAD3, HIF1A, VIM, MYOD1
45tyrosine457.5DES, SMAD3, HIF1A, MYOD1, MET, ENO2
46oxygen45 268.4DES, IGFBP1, CYGB, HIF1A, MYOD1, ADAM9
47alanine457.4IGFBP1, SMAD3, HIF1A, VIM, MYOD1, MET
48glucose456.7SMAD3, IGFBP1, TFE3, DES, HIF1A, MYOD1
49testosterone45 61 26 139.6NPY, DES, IGFBP1, SMAD3, HIF1A, VIM
50estrogen456.6DES, IGFBP1, SMAD3, HIF1A, VIM, MYOD1

GO Terms for genes affiliated with Alveolar Soft-Part Sarcoma

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Cellular components related to Alveolar Soft-Part Sarcoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:00056158.4IGFBP1, ECM1, ADAM9, ENO2, NPY
2transcription factor complexGO:00056678.4TCF3, MYOD1, HIF1A, SMAD3
3nucleoplasmGO:00056548.3TCF3, MYOD1, MYF6, HIF1A, SMAD3

Biological processes related to Alveolar Soft-Part Sarcoma according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1regulation of transforming growth factor beta2 productionGO:00329099.7HIF1A, SMAD3
2negative regulation of bone mineralizationGO:00305029.5HIF1A, ECM1
3muscle cell fate commitmentGO:00426939.4MYOD1, MYF6
4glucose homeostasisGO:00425939.4HIF1A, ASPSCR1, MET
5histone H4 acetylationGO:00439679.4TCF3, MYOD1
6positive regulation of muscle cell differentiationGO:00511499.3MYF6, MYOD1, TCF3
7muscle cell differentiationGO:00426929.3TCF3, MYOD1, MYF6
8skeletal muscle tissue developmentGO:00075199.2MYF6, MYOD1, MET
9positive regulation of transcription from RNA polymerase II promoterGO:00459447.9MET, TCF3, MYOD1, MYF6, HIF1A, SMAD3

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1laminin bindingGO:00432369.7ADAM9, ECM1
2E-box bindingGO:00708889.4TCF3, MYOD1, MYF6
3transcription regulatory region DNA bindingGO:00442129.3TFE3, SMAD3, HIF1A, TCF3
4nuclear hormone receptor bindingGO:00352579.3MYOD1, HIF1A
5chromatin DNA bindingGO:00314909.2MYOD1, SMAD3
6sequence-specific DNA binding transcription factor activityGO:00037008.9TFE3, SMAD3, HIF1A, MYF6, TCF3
7protein heterodimerization activityGO:00469828.8HIF1A, MYF6, MYOD1, TCF3
8ubiquitin protein ligase bindingGO:00316258.7MYOD1, HIF1A, SMAD3
9transcription factor bindingGO:00081348.7SMAD3, HIF1A, MYOD1, TCF3
10protein bindingGO:00055156.6DES, ECM1, SMAD3, HIF1A, VIM, MYOD1

Products for genes affiliated with Alveolar Soft-Part Sarcoma

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Sources for Alveolar Soft-Part Sarcoma

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet