MCID: HPT006
MIFTS: 45

Hepatic Angiomyolipoma malady

Cancer diseases category
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Summaries for Hepatic Angiomyolipoma

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33MalaCards
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MalaCards: Hepatic Angiomyolipoma is related to angiomyolipoma and tuberous sclerosis. An important gene associated with Hepatic Angiomyolipoma is DES (desmin), and among its related pathways are Cytoplasmic microtubules and Striated Muscle Contraction. 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 pigmentation and respiratory system.

Aliases & Classifications for Hepatic Angiomyolipoma

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8Disease Ontology, 62UMLS, 40NCIt
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Classifications:

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


Aliases & Descriptions:

hepatic angiomyolipoma 8 62


External Ids:

Disease Ontology8 DOID:3317
NCIt40 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 91)
idRelated DiseaseScoreTop Affiliating Genes
1angiomyolipoma31.7VIM, DES, TSC1
2tuberous sclerosis30.8VIM, TSC1
3hepatocellular carcinoma30.7MYC, RB1, CDKN2A
4lymphangioleiomyomatosis30.5DES, TSC1
5rhabdomyosarcoma30.1DES, RB1, VIM
6osteosarcoma30.1MYC, CDKN2A, RB1
7melanoma29.9MYC, RB1, VIM, DES, CDKN2A
8hepatitis11.1
9tuberous sclerosis complex10.2
10infantile myofibromatosis10.1DES
11subependymal giant cell astrocytoma10.1TSC1
12adenomatoid tumor10.1VIM
13arteriovenous fistula10.1
14neurofibromatosis10.1
15ulcerative colitis10.1
16giant hemangioma10.1
17disseminated intravascular coagulation10.1
18hemangioma10.1
19pancreatitis10.1
20epithelioid leiomyosarcoma10.1VIM, DES
21mesenchymal chondrosarcoma10.1VIM, DES
22pseudosarcomatous fibromatosis10.1VIM, DES
23spindle cell carcinoma10.1VIM, DES
24spindle cell sarcoma10.1VIM, DES
25alveolar soft part sarcoma10.1DES, VIM
26sertoli cell tumor10.1VIM, DES
27dermatofibrosarcoma protuberans10.1DES, VIM
28granular cell tumor10.1VIM, DES
29fibrous histiocytoma10.1DES, VIM
30endometrial stromal sarcoma10.1VIM, DES
31rhabdoid tumor10.1DES, VIM
32hemangiopericytoma10.1VIM, DES
33sex cord-gonadal stromal tumor10.1DES, VIM
34glomus tumor10.1VIM, DES
35malignant mixed mullerian tumor10.1VIM, DES
36fibromatosis10.1VIM, DES
37chordoma10.1VIM, DES
38smooth muscle tumor10.1VIM, DES
39abrikosov's tumor10.1VIM, DES
40giant cell tumor10.1DES, VIM
41pleomorphic adenoma10.1DES, VIM
42malignant fibroxanthoma10.1VIM, DES
43synovial sarcoma10.0VIM, DES
44gastrointestinal stromal tumor10.0VIM, DES
45oxyphilic adenoma10.0VIM, TSC1
46neurilemmoma10.0DES, VIM
47malignant peripheral nerve sheath tumor10.0VIM, CDKN2A
48lung giant cell carcinoma10.0VIM, MYC
49leiomyoma10.0VIM, DES
50dedifferentiated liposarcoma10.0RB1, DES

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



Diseases related to hepatic angiomyolipoma

Symptoms for Hepatic Angiomyolipoma

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Drugs & Therapeutics for Hepatic Angiomyolipoma

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Hepatic Angiomyolipoma

Search NIH Clinical Center for Hepatic Angiomyolipoma

Genetic Tests for Hepatic Angiomyolipoma

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Anatomical Context for Hepatic Angiomyolipoma

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33MalaCards
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MalaCards organs/tissues related to Hepatic Angiomyolipoma:

33
Liver, Small intestine, Testes

Animal Models for Hepatic Angiomyolipoma or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Hepatic Angiomyolipoma:

37 (show all 17)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.6MYC, RB1, CDKN2A
2MP:00053888.3CDKN2A, RB1, TSC1, VIM
3MP:00020068.3MYC, TSC1, RB1, CDKN2A
4MP:00053708.3CDKN2A, RB1, TSC1, MYC
5MP:00107718.1CDKN2A, RB1, TSC1, MYC
6MP:00053798.0MYC, TSC1, RB1, CDKN2A
7MP:00053857.9DES, VIM, MYC, TSC1, RB1
8MP:00053807.8VIM, MYC, TSC1, RB1, CDKN2A
9MP:00053897.8VIM, MYC, TSC1, RB1, CDKN2A
10MP:00053907.8MYC, TSC1, RB1, CDKN2A
11MP:00053847.7VIM, MYC, TSC1, RB1, CDKN2A
12MP:00036317.6VIM, MYC, TSC1, RB1, CDKN2A
13MP:00053787.5CDKN2A, RB1, TSC1, MYC, VIM
14MP:00053697.4CDKN2A, RB1, TSC1, MYC, VIM, DES
15MP:00053867.4DES, VIM, MYC, TSC1, RB1, CDKN2A
16MP:00053767.4DES, VIM, MYC, TSC1, RB1, CDKN2A
17MP:00107687.4DES, VIM, MYC, TSC1, RB1, CDKN2A

Publications for Hepatic Angiomyolipoma

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52PubMed
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Articles related to Hepatic Angiomyolipoma:

(show top 50)    (show all 113)
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
Early venous return in hepatic angiomyolipoma due to an intratumoral structure resembling an arteriovenous fistula. (23679956)
2013
4
Hepatic angiomyolipoma and neurofibromatosis type 2: a novel association. (24314304)
2013
5
Hepatic angiomyolipoma: CT and MR imaging findings with clinical-pathologic comparison. (22996326)
2013
6
Hepatic angiomyolipoma with minimal fat, mimicking hepatocellular carcinoma. (23091816)
2012
7
Hepatic angiomyolipoma: contrast patterns with SonoVue-enhanced real-time gray-scale ultrasonography. (22524813)
2012
8
Hepatic angiomyolipoma with a giant hemangioma. (22041879)
2011
9
Characteristics and treatment strategy of hepatic angiomyolipoma: a series of 94 patients collected from four institutions. (21451800)
2011
10
Development of hepatic angiomyolipoma accompanied with focal nodular hyperplasia long after treatment of pelvic rhabdomyosarcoma. (21683235)
2011
11
Diagnostic difficulties and treatment strategy of hepatic angiomyolipoma. (22464831)
2011
12
Liver transplantation for giant hepatic angiomyolipoma. (21462294)
2011
13
Angiogenesis and lymphangiogenesis in sporadic hepatic angiomyolipoma. (21665376)
2011
14
Hepatic angiomyolipoma and intramural small intestinal schwannoma: a coincidence or a relationship? (19282295)
2010
15
F-18 FDG PET/CT findings in two patients with hepatic angiomyolipoma with and without intratumoral hemorrhage. (20026966)
2010
16
Hemodynamic characterization of hepatic angiomyolipoma with least amount of fat evaluated by contrast-enhanced magnetic resonance angiography. (19319591)
2010
17
Hepatic angiomyolipoma: a case report. (20518257)
2010
18
Assessment of triple-phase CT findings for the differentiation of fat-deficient hepatic angiomyolipoma from hepatocellular carcinoma in non-cirrhotic liver. (19200676)
2010
19
Hepatic angiomyolipoma: dynamic computed tomography features and clinical correlation. (19610144)
2009
20
Wunderlich's syndrome with hepatic angiomyolipoma in tuberous sclerosis. (18626151)
2008
21
Clinical features of hepatic angiomyolipoma. (18522883)
2008
22
Massive hepatic angiomyolipoma in a young woman with tuberous sclerosis complex: significant clinical improvement during tamoxifen treatment. (18436329)
2008
23
Hepatic angiomyolipoma. (18834230)
2008
24
Management of hepatic angiomyolipoma. (17436129)
2007
25
Invasive growth of hepatic angiomyolipoma; a hitherto unreported ominous histological feature. (16722932)
2006
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
Contrast-enhanced ultrasonography in hepatic angiomyolipoma. (15914690)
2005
30
Hepatic angiomyolipoma and hepatic stellate cells share a similar gene expression profile. (15891994)
2005
31
Growth of hepatic angiomyolipoma indicating malignant potential. (15482547)
2004
32
A solitary hepatic lesion: MRI-pathological correlation of an hepatic angiomyolipoma (2004:4b). (15221270)
2004
33
Hepatic angiomyolipoma. (12773992)
2003
34
Hepatic angiomyolipoma associated with splenic hamartoma. (11929179)
2002
35
Hepatic angiomyolipoma: various appearances on two-phase contrast scanning of spiral CT. (11750147)
2002
36
Common and epithelioid variants of hepatic angiomyolipoma exhibit clonal growth and share a distinctive immunophenotype. (10915726)
2000
37
Hepatic angiomyolipoma-misdiagnosis as hepatocellular carcinoma: A report of 14 cases. (11819659)
2000
38
US power Doppler of hepatic angiomyolipoma with low fat content. (10879706)
2000
39
Hepatic angiomyolipoma: a clinicopathologic study of 30 cases and delineation of unusual morphologic variants. (9888702)
1999
40
Hepatic angiomyolipoma with 'oncocyte-like' features. (9870158)
1998
41
Spontaneous rupture of a hepatic angiomyolipoma: CT findings and literature review. (9087353)
1997
42
Hepatic angiomyolipoma: two case reports of caudate-based lesions and review of the literature. (9377758)
1997
43
Hepatic angiomyolipoma: a report of two cases. (8820041)
1996
44
Hepatic angiomyolipoma with minimal fat content: MR demonstration. (8897374)
1996
45
Hepatic angiomyolipoma. (7820028)
1994
46
Hepatic angiomyolipoma pre-operatively diagnosed by imaging. (8218999)
1993
47
Hepatic angiomyolipomas with a deceptive trabecular pattern and HMB-45 reactivity. (1334941)
1992
48
Hepatic angiomyolipoma in a tuberous sclerosis patient. (2401620)
1990
49
Hepatic angiomyolipoma in a tuberous sclerosis patient. (2668223)
1989
50
Giant hepatic angiomyolipoma. (2599515)
1989

Variations for Hepatic Angiomyolipoma

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Expression for genes affiliated with Hepatic Angiomyolipoma

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2BioGPS, 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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Sources:
50PathCards, 12EMD Millipore, 60Thomson Reuters, 38NCBI BioSystems Database, 55Reactome, 54R&D Systems, 53QIAGEN, 30KEGG
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Pathways related to Hepatic Angiomyolipoma according to GeneCards/GeneDecks:

(show all 36)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Cytoskeleton remodeling Neurofilaments60
9.5DES, VIM
2
Show member pathways
9.5DES, VIM
3
Show member pathways
Signaling by Aurora kinases38
Aurora C signaling38
9.5DES, VIM
49.4TSC1, MYC
5
Show member pathways
Immune response IL 4 signaling pathway60
Signal transduction AKT signaling60
9.4TSC1, MYC
69.4TSC1, MYC
7
Show member pathways
9.3MYC, CDKN2A
89.1CDKN2A, RB1
9
Show member pathways
9.1CDKN2A, RB1
109.1CDKN2A, RB1
11
Show member pathways
FAS pathway and Stress induction of HSP regulation38
Apoptosis and survival FAS signaling cascades60
Caspase cascade in apoptosis38
9.1VIM, RB1
129.0MYC, RB1
13
Show member pathways
Cell cycle ESR1 regulation of G1 S transition60
Immune response MIF JAB1 signaling60
Cell cycle Cell cycle generic schema 60
9.0RB1, MYC
149.0RB1, MYC
159.0RB1, MYC
169.0MYC, RB1
179.0RB1, MYC
188.8VIM, MYC, CDKN2A
19
Show member pathways
Prostate Cancer38
Integrated Cancer pathway38
Steroid Biosynthesis38
8.6MYC, TSC1, RB1
208.6MYC, TSC1, RB1
21
Show member pathways
8.5CDKN2A, RB1, MYC
228.5CDKN2A, RB1, MYC
238.5CDKN2A, RB1, MYC
24
Show member pathways
8.5MYC, RB1, CDKN2A
25
Show member pathways
DNA damage response38
8.5MYC, RB1, CDKN2A
26
Show member pathways
Cell cycle38
8.5MYC, RB1, CDKN2A
278.5MYC, RB1, CDKN2A
28
Show member pathways
8.5CDKN2A, RB1, MYC
29
Show member pathways
8.5MYC, RB1, CDKN2A
30
Show member pathways
8.5MYC, RB1, CDKN2A
318.5RB1, MYC, VIM
32
Show member pathways
Proteasome Degradation38
Immune response Antigen presentation by MHC class I60
8.5RB1, MYC, VIM
338.5RB1, MYC, VIM
34
Show member pathways
Signaling Pathways in Glioblastoma38
8.1CDKN2A, RB1, TSC1, MYC
358.1CDKN2A, RB1, TSC1, MYC
36
Show member pathways
7.1CDKN2A, DES, VIM, MYC, TSC1, RB1

Compounds for genes affiliated with Hepatic Angiomyolipoma

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Sources:
45Novoseek, 3BitterDB, 51PharmGKB, 11DrugBank, 24HMDB, 61Tocris Bioscience, 29IUPHAR
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Compounds related to Hepatic Angiomyolipoma according to GeneCards/GeneDecks:

(show top 50)    (show all 101)
idCompoundScoreTop Affiliating Genes
1orcein459.9VIM, DES
2s 100459.8VIM, DES
3tachyplesin i459.7MYC, CDKN2A
4hematoxylin459.4VIM, DES, CDKN2A
5azathioprine45 3 51 1112.4CDKN2A, DES, VIM
64-(methylnitrosamino)-1-(3-pyridyl)-1-butanone459.4RB1, CDKN2A
7guanosine45 24 1111.3CDKN2A, TSC1, VIM
8toluidine459.2VIM, DES
9amsacrine45 1110.2VIM, MYC
10hyaluronic acid45 2410.2DES, VIM, MYC
11hpvs459.1RB1, CDKN2A
12folate459.0CDKN2A, VIM, MYC
13formaldehyde45 2410.0DES, RB1, VIM
145-aza-2deoxycytidine459.0MYC, VIM, CDKN2A
15thymidylate458.9VIM, CDKN2A, RB1
16hmba458.9CDKN2A, MYC, RB1
17depsipeptide458.9MYC, RB1, CDKN2A
18n-(4-hydroxyphenyl)retinamide458.9RB1, MYC, VIM
19glycogen45 249.8MYC, TSC1, DES, VIM
20camptothecin45 61 1110.8RB1, MYC, CDKN2A
21biotin45 24 1110.6RB1, VIM, DES, CDKN2A
22dmso458.6MYC, RB1, VIM
23cyclic amp45 249.5RB1, VIM, DES, CDKN2A
24bromodeoxyuridine458.5VIM, RB1, MYC, DES
25progesterone45 29 61 24 1112.5DES, VIM, CDKN2A, RB1
2612-o-tetradecanoylphorbol 13-acetate458.5DES, VIM, MYC, RB1
27h2o2458.5VIM, CDKN2A, RB1, DES
28vitamin a45 24 1110.5VIM, MYC, RB1
29testosterone45 61 24 1111.5CDKN2A, VIM, RB1, DES
30rapamycin458.4RB1, TSC1, MYC, VIM
31roscovitine458.4RB1, CDKN2A, MYC, VIM
32vincristine45 51 1110.4CDKN2A, RB1, MYC, VIM
33cytarabine45 51 1110.4RB1, VIM, CDKN2A, MYC
34alanine458.4VIM, TSC1, MYC, CDKN2A
35agar458.4CDKN2A, RB1, MYC, VIM
36butyrate458.4MYC, VIM, RB1, CDKN2A
37paclitaxel45 51 1110.4VIM, MYC, RB1, CDKN2A
38genistein45 29 61 3 24 1113.4VIM, MYC, RB1, CDKN2A
39leucine458.3CDKN2A, RB1, MYC, VIM
40oligonucleotide458.2VIM, RB1, MYC, CDKN2A
41dexamethasone45 51 29 1111.2VIM, CDKN2A, MYC, RB1
42threonine458.1CDKN2A, TSC1, DES, MYC, RB1
43adriamycin458.0MYC, VIM, RB1, DES, CDKN2A
44doxorubicin45 51 1110.0DES, VIM, MYC, RB1, CDKN2A
45actinomycin d458.0VIM, MYC, DES, CDKN2A, RB1
46estrogen458.0VIM, RB1, DES, CDKN2A, MYC
47retinoic acid45 249.0DES, VIM, CDKN2A, MYC, RB1
48paraffin457.6MYC, CDKN2A, RB1, TSC1, VIM, DES
49vegf457.6CDKN2A, VIM, MYC, TSC1, RB1, DES
50serine457.5CDKN2A, RB1, MYC, VIM, DES, 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
1intermediate filamentGO:0058829.5VIM, DES
2protein complexGO:0432348.6CDKN2A, TSC1, MYC

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1muscle filament slidingGO:0300499.7VIM, DES
2cell cycle checkpointGO:0000759.3RB1, CDKN2A
3negative regulation of protein kinase activityGO:0064699.2CDKN2A, RB1
4protein stabilizationGO:0508219.2TSC1, CDKN2A
5chromatin remodelingGO:0063389.0RB1, MYC
6Ras protein signal transductionGO:0072659.0CDKN2A, RB1
7positive regulation of transcription, DNA-templatedGO:0458938.6MYC, RB1, CDKN2A
8positive regulation of transcription from RNA polymerase II promoterGO:0459448.5CDKN2A, RB1, MYC
9cell cycle arrestGO:0070508.3CDKN2A, RB1, TSC1, MYC

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

idNameGO IDScoreTop Affiliating Genes
1structural constituent of cytoskeletonGO:00520010.1DES
2transcription factor bindingGO:0081348.5MYC, RB1, CDKN2A
3identical protein bindingGO:0428028.4VIM, RB1, DES
4protein bindingGO:0055157.0VIM, MYC, TSC1, RB1, CDKN2A, DES

Products for genes affiliated with Hepatic Angiomyolipoma

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  • Antibodies
  • Proteins
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Sources for Hepatic Angiomyolipoma

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet