MCID: HPT006
MIFTS: 41

Hepatic Angiomyolipoma malady

Summaries for Hepatic Angiomyolipoma

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32MalaCards
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MalaCards: Hepatic Angiomyolipoma is related to angiomyolipoma and tuberous sclerosis. An important gene associated with Hepatic Angiomyolipoma is TSC1 (tuberous sclerosis 1), and among its related pathways are LKB1 signaling events and FOXM1 transcription factor network. The compounds orcein and s 100 have been mentioned in the context of this disorder. Affiliated tissues include liver, small intestine and testes, and related mouse phenotypes are homeostasis/metabolism and pigmentation.

Aliases & Classifications for Hepatic Angiomyolipoma

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8Disease Ontology, 60UMLS, 39NCIt
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Aliases & Descriptions:

hepatic angiomyolipoma 8 60


External Ids:

Disease Ontology8 DOID:3317
NCIt39 C27485

Related Diseases for Hepatic Angiomyolipoma

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17GeneCards, 18GeneDecks
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Diseases related to Hepatic Angiomyolipoma via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 106)
idRelated DiseaseScoreTop Affiliating Genes
1angiomyolipoma31.6TSC1, DES, VIM
2tuberous sclerosis30.6VIM, TSC1
3lymphangioleiomyomatosis30.3DES, TSC1
4osteosarcoma30.0RB1, MYC, CDKN2A
5rhabdomyosarcoma30.0VIM, RB1, DES
6melanoma30.0CDKN2A, MYC, DES, RB1, VIM
7hepatitis11.1
8hepatitis a10.9
9hepatocellular carcinoma10.6
10arteriovenous fistula10.0
11neurofibromatosis10.0
12giant hemangioma10.0
13liver inflammatory pseudotumor10.0
14ulcerative colitis10.0
15disseminated intravascular coagulation10.0
16hemangioma10.0
17pancreatitis10.0
18lipoma10.0DES
19uterine sarcoma10.0DES
20desmoid tumor10.0DES
21infantile myofibromatosis10.0DES
22subependymal giant cell astrocytoma10.0TSC1
23pituitary adenoma10.0RB1
24laryngeal benign neoplasm10.0RB1
25adenocarcinoma in situ10.0CDKN2A
26pituitary tumors10.0RB1
27epidermolysis bullosa simplex10.0DES
28neuroblastoma10.0MYC
29familial adenomatous polyposis10.0MYC
30anaplastic oligodendroglioma10.0CDKN2A
31angiosarcoma10.0VIM
32adenomatoid tumor10.0VIM
33perineurioma10.0VIM
34myoepithelioma10.0VIM
35dedifferentiated liposarcoma10.0RB1, DES
36pneumothorax10.0TSC1
37alveolar rhabdomyosarcoma10.0RB1, DES
38medulloblastoma10.0MYC, DES
39oral cancer10.0RB1, CDKN2A
40laryngeal squamous cell carcinoma10.0RB1, CDKN2A
41li-fraumeni syndrome10.0RB1, CDKN2A
42papilloma10.0CDKN2A, RB1
43meningioma10.0TSC1, VIM
44fibromatosis10.0DES, VIM
45smooth muscle tumor10.0DES, VIM
46rhabdoid tumor10.0VIM, DES
47chordoma10.0DES, VIM
48leiomyoma10.0VIM, DES
49hemangiopericytoma10.0VIM, DES
50chondrosarcoma10.0VIM, DES

Graphical network of the top 20 diseases related to Hepatic Angiomyolipoma:



Diseases related to hepatic angiomyolipoma

Clinical Features for Hepatic Angiomyolipoma

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Drugs & Therapeutics for Hepatic Angiomyolipoma

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Hepatic Angiomyolipoma

Drug clinical trials:

Search ClinicalTrials for Hepatic Angiomyolipoma

Search NIH Clinical Center for Hepatic Angiomyolipoma

Search CenterWatch for Hepatic Angiomyolipoma

Genetic Tests for Hepatic Angiomyolipoma

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Anatomical Context for Hepatic Angiomyolipoma

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32MalaCards
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MalaCards organs/tissues related to Hepatic Angiomyolipoma:

32
Liver, Small intestine, Testes

Animal Models for Hepatic Angiomyolipoma or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Hepatic Angiomyolipoma:

36 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053769.8TSC1, DES
2MP:00011868.4RB1, MYC, CDKN2A
3MP:00020068.4RB1, MYC, CDKN2A, TSC1
4MP:00053708.2TSC1, CDKN2A, MYC, RB1
5MP:00053888.2TSC1, CDKN2A, RB1, VIM
6MP:00053698.0TSC1, RRAD, CDKN2A, MYC, RB1
7MP:00053807.9VIM, RB1, MYC, CDKN2A, TSC1
8MP:00053897.8VIM, RB1, MYC, CDKN2A, TSC1
9MP:00053857.8VIM, RB1, DES, MYC, RRAD, TSC1
10MP:00053867.5VIM, RB1, DES, MYC, CDKN2A, TSC1
11MP:00107687.3VIM, RB1, DES, MYC, CDKN2A, TSC1

Publications for Hepatic Angiomyolipoma

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50PubMed
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Articles related to Hepatic Angiomyolipoma:

(show top 50)    (show all 123)
idTitleAuthorsYear
1
Comparison of MRI features for the differentiation of hepatic angiomyolipoma from fat-containing hepatocellular carcinoma. (24389893)
2014
2
Immunohistochemical character of hepatic angiomyolipoma: for its management. (23864864)
2013
3
Hepatic epithelioid angiomyolipoma with arterioportal venous shunting mimicking hepatocellular carcinoma: report of a case. (24190045)
2013
4
Hepatic angiomyolipoma and neurofibromatosis type 2: a novel association. (24314304)
2013
5
Spontaneous rupture of a hepatic epithelioid angiomyolipoma: damage control surgery. A case report. (24342160)
2013
6
Hepatic angiomyolipoma: a case report with diagnostic challenge. (24152510)
2013
7
Hepatic angiomyolipoma: clinical, imaging and pathological features in 178 cases. (23292871)
2013
8
Large hepatic angiomyolipoma. (23433965)
2013
9
A misleading hepatic tumour: epithelioid angiomyolipoma. (23402089)
2012
10
Hepatic angiomyolipoma: a series of six cases with emphasis on pathological-radiological correlations and unusual variants diagnosed by core needle biopsy. (22949933)
2012
11
Hepatic angiomyolipoma: diagnostic findings and management. (23320180)
2012
12
Hepatic angiomyolipoma with a giant hemangioma. (22041879)
2011
13
Characteristics and treatment strategy of hepatic angiomyolipoma: a series of 94 patients collected from four institutions. (21451800)
2011
14
Development of hepatic angiomyolipoma accompanied with focal nodular hyperplasia long after treatment of pelvic rhabdomyosarcoma. (21683235)
2011
15
Liver transplantation for giant hepatic angiomyolipoma. (21462294)
2011
16
Diagnosis and treatment of hepatic angiomyolipoma. (21283992)
2011
17
Hepatic angiomyolipoma: a case report. (20518257)
2010
18
Education and Imaging. Hepatobiliary and pancreatic: imaging for hepatic angiomyolipoma. (20796161)
2010
19
Clinical challenges and images in GI. Diagnosis: Hepatic angiomyolipoma mimicking hepatocellular carcinoma. (19254682)
2009
20
Hepatic angiomyolipoma mimicking hepatic clear cell carcinoma. (19215699)
2009
21
A hepatic lipoma mimicking angiomyolipoma of the liver: report of a case. (19779784)
2009
22
Wunderlich's syndrome with hepatic angiomyolipoma in tuberous sclerosis. (18626151)
2008
23
Clinical features of hepatic angiomyolipoma. (18522883)
2008
24
Coincidence of hepatocelluar carcinoma and hepatic angiomyolipomas in tuberous sclerosis complex: a case report. (18205279)
2008
25
Management of hepatic angiomyolipoma. (17436129)
2007
26
Hepatic angiomyolipoma with trace amounts of fat: a case report and literature review. (17071805)
2006
27
Hepatic angiomyolipoma: identification of an efferent vessel to be hepatic vein by contrast-enhanced harmonic ultrasound. (16177023)
2005
28
Hepatic angiomyolipoma demonstrating similar imaging characteristics as hepatocellular carcinoma: one case report. (16463691)
2005
29
Diagnostic analysis of hepatic angiomyolipoma. (15730942)
2005
30
Growth of hepatic angiomyolipoma indicating malignant potential. (15482547)
2004
31
Concurrent hepatic and ruptured renal angiomyolipoma in tuberous sclerosis complex. (15605911)
2004
32
Case report of a hepatic angiomyolipoma. (15143988)
2004
33
Hepatic angiomyolipoma. (12773992)
2003
34
Hepatic angiomyolipoma: progressive changes in size and tumor composition. (14628872)
2003
35
Hepatic angiomyolipoma associated with splenic hamartoma. (11929179)
2002
36
Correlation of MRI and CT findings with histopathology in hepatic angiomyolipoma. (11519547)
2001
37
Hepatic angiomyolipoma in a 26-year-old Caucasian woman with a history of tibial osteosarcoma. (10605697)
1999
38
Hepatic angiomyolipoma: two case reports of caudate-based lesions and review of the literature. (9377758)
1997
39
Hepatic angiomyolipoma: a report of two cases. (8820041)
1996
40
Hepatic angiomyolipoma. A report of four cases with immunohistochemical and DNA-flow cytometric studies. (8554448)
1996
41
Immunohistochemical study of hepatic angiomyolipoma. (10846546)
1996
42
Hepatic angiomyolipoma developing during the follow-up of ulcerative colitis: report of a case and review of the literature. (8855499)
1996
43
Hepatic angiomyolipoma in childhood: association with tuberous sclerosis. (8736611)
1995
44
Hepatic angiomyolipoma. (7820028)
1994
45
Hepatic angiomyolipomas with a deceptive trabecular pattern and HMB-45 reactivity. (1334941)
1992
46
Hepatic angiomyolipoma in a tuberous sclerosis patient. (2401620)
1990
47
Hepatic angiomyolipoma in a tuberous sclerosis patient. (2668223)
1989
48
An electron microscopic study of hepatic angiomyolipoma. (2694755)
1989
49
Renal and hepatic angiomyolipoma. (3895207)
1985
50
Hepatic angiomyolipoma. (7180967)
1982

Genetic Variations for Hepatic Angiomyolipoma

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Expression for genes affiliated with Hepatic Angiomyolipoma

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hepatic Angiomyolipoma

Search GEO for disease gene expression data for Hepatic Angiomyolipoma.

Pathways for genes affiliated with Hepatic Angiomyolipoma

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37NCBI BioSystems Database, 53Reactome, 29KEGG, 51QIAGEN, 12EMD Millipore
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Pathways related to Hepatic Angiomyolipoma according to GeneCards/GeneDecks:

(show all 21)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6TSC1, MYC
29.5RB1, MYC
3
Hide members
9.4DES, VIM
49.4VIM, DES
5
Hide members
9.2CDKN2A, RB1
69.1CDKN2A, MYC
79.1RB1, MYC, TSC1
8
Hide members
9.1TSC1, MYC, RB1
98.9MYC, RB1, VIM
108.9MYC, RB1, VIM
118.7CDKN2A, MYC, RB1
128.7RB1, MYC, CDKN2A
13
Hide members
8.7CDKN2A, MYC, RB1
148.7RB1, MYC, CDKN2A
15
Hide members
8.7CDKN2A, MYC, RB1
16
Hide members
8.7RB1, MYC, CDKN2A
17
Cell cycle Cell cycle (generic schema)
Hide members
8.7RB1, MYC, CDKN2A
188.5CDKN2A, MYC, VIM
19
Hide members
8.3RB1, MYC, CDKN2A, TSC1
208.3TSC1, CDKN2A, MYC, RB1
21
Hide members
7.3VIM, RB1, DES, MYC, CDKN2A, TSC1

Compounds for genes affiliated with Hepatic Angiomyolipoma

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44Novoseek, 11DrugBank, 24HMDB, 49PharmGKB, 59Tocris Bioscience, 2BitterDB, 28IUPHAR
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Compounds related to Hepatic Angiomyolipoma according to GeneCards/GeneDecks:

(show top 50)    (show all 72)
idCompoundScoreTop Affiliating Genes
1orcein449.8VIM, DES
2s 100449.8DES, VIM
3toluidine449.6VIM, DES
4amsacrine44 1110.6MYC, VIM
5tachyplesin i449.5MYC, CDKN2A
64-(methylnitrosamino)-1-(3-pyridyl)-1-butanone449.5RB1, CDKN2A
7reticulin449.5VIM, DES
8mucicarmine449.4VIM, DES
9hpvs449.4RB1, CDKN2A
10n-(4-hydroxyphenyl)retinamide449.3VIM, MYC, RB1
11formaldehyde44 2410.3VIM, RB1, DES
12hyaluronic acid44 2410.2DES, MYC, VIM
13glucose449.1CDKN2A, TSC1, RRAD
14hmba449.1CDKN2A, RB1, MYC
15depsipeptide449.1RB1, MYC, CDKN2A
16paclitaxel44 49 1111.1RB1, MYC, CDKN2A
17guanosine44 11 2411.0TSC1, VIM, CDKN2A
18hematoxylin449.0VIM, CDKN2A, DES
19paraffin449.0DES, VIM, MYC, TSC1
20camptothecin44 59 1111.0CDKN2A, MYC, RB1
21azathioprine44 49 2 1112.0CDKN2A, DES, VIM
22glycogen44 249.9TSC1, DES, MYC, VIM
23thymidylate448.9RB1, VIM, CDKN2A
24rapamycin448.9VIM, RB1, MYC, TSC1
25bromodeoxyuridine448.9VIM, RB1, DES, MYC
2612-o-tetradecanoylphorbol 13-acetate448.9MYC, DES, RB1, VIM
27dmso448.8RB1, VIM, MYC
285-aza-2deoxycytidine448.7VIM, MYC, CDKN2A
29folate448.6VIM, CDKN2A, MYC
30biotin44 11 2410.6RB1, CDKN2A, DES, VIM
31roscovitine448.5RB1, CDKN2A, MYC, VIM
32cytarabine44 49 1110.5VIM, MYC, CDKN2A, RB1
33vincristine44 49 1110.5VIM, RB1, MYC, CDKN2A
34agar448.5CDKN2A, MYC, RB1, VIM
35cyclic amp44 249.5CDKN2A, DES, RB1, VIM
36progesterone44 59 28 11 2412.5CDKN2A, DES, VIM, RB1
37h2o2448.4CDKN2A, DES, RB1, VIM
38genistein44 28 59 2 11 2413.4VIM, CDKN2A, MYC, RB1
39testosterone44 59 11 2411.4DES, RB1, VIM, CDKN2A
40leucine448.4RB1, MYC, VIM, CDKN2A
41adriamycin448.1CDKN2A, MYC, RB1, VIM, DES
42doxorubicin44 49 1110.1MYC, RB1, VIM, CDKN2A, DES
43actinomycin d448.1VIM, RB1, CDKN2A, MYC, DES
44dexamethasone44 49 28 1111.1VIM, CDKN2A, MYC, RB1
45estrogen448.0VIM, RB1, MYC, CDKN2A, DES
46retinoic acid44 249.0CDKN2A, DES, MYC, VIM, RB1
47threonine447.8RRAD, TSC1, RB1, CDKN2A, MYC, DES
48oligonucleotide447.8CDKN2A, VIM, RB1, MYC
49vegf447.7RB1, TSC1, CDKN2A, MYC, DES, VIM
50serine447.2CDKN2A, DES, RRAD, RB1, VIM, TSC1

GO Terms for genes affiliated with Hepatic Angiomyolipoma

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16Gene Ontology
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Cellular components related to Hepatic Angiomyolipoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein complexGO:0432348.8TSC1, CDKN2A, MYC

Biological processes related to Hepatic Angiomyolipoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1muscle filament slidingGO:0300499.4DES, VIM
2cell cycle checkpointGO:0000758.9CDKN2A, RB1
3cell cycle arrestGO:0070508.2TSC1, CDKN2A, MYC, RB1

Molecular functions related to Hepatic Angiomyolipoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcription factor bindingGO:0081348.7CDKN2A, MYC, RB1
2protein bindingGO:0055156.4TSC1, VIM, RB1, DES, MYC, CDKN2A

Products for genes affiliated with Hepatic Angiomyolipoma

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Sources for Hepatic Angiomyolipoma

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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