MCID: HPT006
MIFTS: 45

Hepatic Angiomyolipoma malady

Cancer diseases category

Summaries for Hepatic Angiomyolipoma

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34MalaCards
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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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9Disease Ontology, 63UMLS, 41NCIt
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Classifications:

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


Aliases & Descriptions:

hepatic angiomyolipoma 9 63


External Ids:

Disease Ontology9 DOID:3317
NCIt41 C27485

Related Diseases for Hepatic Angiomyolipoma

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18GeneCards, 19GeneDecks
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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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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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34MalaCards
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MalaCards organs/tissues related to Hepatic Angiomyolipoma:

34
Liver, Small intestine, Testes

Animal Models for Hepatic Angiomyolipoma or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Hepatic Angiomyolipoma:

38 (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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53PubMed
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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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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
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:
51PathCards, 13EMD Millipore, 61Thomson Reuters, 39NCBI BioSystems Database, 56Reactome, 55R&D Systems, 54QIAGEN, 31KEGG
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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 Neurofilaments61
9.5DES, VIM
2
Show member pathways
9.5DES, VIM
3
Show member pathways
Signaling by Aurora kinases39
Aurora C signaling39
9.5DES, VIM
49.4TSC1, MYC
5
Show member pathways
Immune response IL 4 signaling pathway61
Signal transduction AKT signaling61
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 regulation39
Apoptosis and survival FAS signaling cascades61
Caspase cascade in apoptosis39
9.1VIM, RB1
129.0MYC, RB1
13
Show member pathways
Cell cycle ESR1 regulation of G1 S transition61
Immune response MIF JAB1 signaling61
Cell cycle Cell cycle generic schema 61
9.0RB1, MYC
149.0RB1, MYC
159.0RB1, MYC
169.0MYC, RB1
179.0RB1, MYC
188.8VIM, MYC, CDKN2A
19
Show member pathways
Prostate Cancer39
Integrated Cancer pathway39
Steroid Biosynthesis39
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 response39
8.5MYC, RB1, CDKN2A
26
Show member pathways
Cell cycle39
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 Degradation39
Immune response Antigen presentation by MHC class I61
8.5RB1, MYC, VIM
338.5RB1, MYC, VIM
34
Show member pathways
Signaling Pathways in Glioblastoma39
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:
46Novoseek, 3BitterDB, 52PharmGKB, 12DrugBank, 25HMDB, 62Tocris Bioscience, 30IUPHAR
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Compounds related to Hepatic Angiomyolipoma according to GeneCards/GeneDecks:

(show top 50)    (show all 101)
idCompoundScoreTop Affiliating Genes
1orcein469.9VIM, DES
2s 100469.8VIM, DES
3tachyplesin i469.7MYC, CDKN2A
4hematoxylin469.4VIM, DES, CDKN2A
5azathioprine46 3 52 1212.4CDKN2A, DES, VIM
64-(methylnitrosamino)-1-(3-pyridyl)-1-butanone469.4RB1, CDKN2A
7guanosine46 25 1211.3CDKN2A, TSC1, VIM
8toluidine469.2VIM, DES
9amsacrine46 1210.2VIM, MYC
10hyaluronic acid46 2510.2DES, VIM, MYC
11hpvs469.1RB1, CDKN2A
12folate469.0CDKN2A, VIM, MYC
13formaldehyde46 2510.0DES, RB1, VIM
145-aza-2deoxycytidine469.0MYC, VIM, CDKN2A
15thymidylate468.9VIM, CDKN2A, RB1
16hmba468.9CDKN2A, MYC, RB1
17depsipeptide468.9MYC, RB1, CDKN2A
18n-(4-hydroxyphenyl)retinamide468.9RB1, MYC, VIM
19glycogen46 259.8MYC, TSC1, DES, VIM
20camptothecin46 62 1210.8RB1, MYC, CDKN2A
21biotin46 25 1210.6RB1, VIM, DES, CDKN2A
22dmso468.6MYC, RB1, VIM
23cyclic amp46 259.5RB1, VIM, DES, CDKN2A
24bromodeoxyuridine468.5VIM, RB1, MYC, DES
25progesterone46 30 62 25 1212.5DES, VIM, CDKN2A, RB1
2612-o-tetradecanoylphorbol 13-acetate468.5DES, VIM, MYC, RB1
27h2o2468.5VIM, CDKN2A, RB1, DES
28vitamin a46 25 1210.5VIM, MYC, RB1
29testosterone46 62 25 1211.5CDKN2A, VIM, RB1, DES
30rapamycin468.4RB1, TSC1, MYC, VIM
31roscovitine468.4RB1, CDKN2A, MYC, VIM
32vincristine46 52 1210.4CDKN2A, RB1, MYC, VIM
33cytarabine46 52 1210.4RB1, VIM, CDKN2A, MYC
34alanine468.4VIM, TSC1, MYC, CDKN2A
35agar468.4CDKN2A, RB1, MYC, VIM
36butyrate468.4MYC, VIM, RB1, CDKN2A
37paclitaxel46 52 1210.4VIM, MYC, RB1, CDKN2A
38genistein46 30 62 3 25 1213.4VIM, MYC, RB1, CDKN2A
39leucine468.3CDKN2A, RB1, MYC, VIM
40oligonucleotide468.2VIM, RB1, MYC, CDKN2A
41dexamethasone46 52 30 1211.2VIM, CDKN2A, MYC, RB1
42threonine468.1CDKN2A, TSC1, DES, MYC, RB1
43adriamycin468.0MYC, VIM, RB1, DES, CDKN2A
44doxorubicin46 52 1210.0DES, VIM, MYC, RB1, CDKN2A
45actinomycin d468.0VIM, MYC, DES, CDKN2A, RB1
46estrogen468.0VIM, RB1, DES, CDKN2A, MYC
47retinoic acid46 259.0DES, VIM, CDKN2A, MYC, RB1
48paraffin467.6MYC, CDKN2A, RB1, TSC1, VIM, DES
49vegf467.6CDKN2A, VIM, MYC, TSC1, RB1, DES
50serine467.5CDKN2A, RB1, MYC, VIM, DES, TSC1

GO Terms for genes affiliated with Hepatic Angiomyolipoma

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17Gene 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
  • Lysates
  • Antibodies

Sources for Hepatic Angiomyolipoma

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet