MCID: HPT006
MIFTS: 45

Hepatic Angiomyolipoma malady

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Summaries for Hepatic Angiomyolipoma

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MalaCards based summary: 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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Hepatic Angiomyolipoma, Aliases & Descriptions:

Name: Hepatic Angiomyolipoma 8 62


Classifications:

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


External Ids:

Disease Ontology8 DOID:3317
NCIt39 C27485

Related Diseases for Hepatic Angiomyolipoma

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

(show top 50)    (show all 94)
idRelated DiseaseScoreTop Affiliating Genes
1angiomyolipoma31.8VIM, DES, TSC1
2tuberous sclerosis31.0VIM, TSC1
3lymphangioleiomyomatosis30.8DES, TSC1
4rhabdomyosarcoma30.0DES, RB1, VIM
5osteosarcoma29.8MYC, CDKN2A, RB1
6melanoma29.3MYC, RB1, VIM, DES, CDKN2A
7hepatitis11.1
8hepatocellular carcinoma10.6
9infantile myofibromatosis10.5DES
10subependymal giant cell astrocytoma10.5TSC1
11adenomatoid tumor10.4VIM
12epithelioid leiomyosarcoma10.3VIM, DES
13mesenchymal chondrosarcoma10.3VIM, DES
14pseudosarcomatous fibromatosis10.3VIM, DES
15spindle cell carcinoma10.3VIM, DES
16spindle cell sarcoma10.3VIM, DES
17alveolar soft part sarcoma10.3DES, VIM
18sertoli cell tumor10.3VIM, DES
19dermatofibrosarcoma protuberans10.3DES, VIM
20granular cell tumor10.3VIM, DES
21fibrous histiocytoma10.3DES, VIM
22endometrial stromal sarcoma10.3VIM, DES
23rhabdoid tumor10.3DES, VIM
24hemangiopericytoma10.3VIM, DES
25tuberous sclerosis complex10.3
26sex cord-gonadal stromal tumor10.3DES, VIM
27paraganglioma10.2VIM, DES
28malignant mixed mullerian tumor10.2VIM, DES
29fibromatosis10.2VIM, DES
30chordoma10.2VIM, DES
31smooth muscle tumor10.2VIM, DES
32abrikosov's tumor10.2VIM, DES
33giant cell tumor10.2DES, VIM
34pleomorphic adenoma10.2DES, VIM
35malignant fibroxanthoma10.2VIM, DES
36synovial sarcoma10.2VIM, DES
37gastrointestinal stromal tumor10.2VIM, DES
38oxyphilic adenoma10.2VIM, TSC1
39neurilemmoma10.2DES, VIM
40malignant peripheral nerve sheath tumor10.2VIM, CDKN2A
41lung giant cell carcinoma10.2VIM, MYC
42leiomyoma10.1VIM, DES
43dedifferentiated liposarcoma10.1RB1, DES
44polycystic kidney disease, autosomal dominant10.1TSC1, MYC
45alveolar rhabdomyosarcoma10.1DES, RB1
46leukemia, acute lymphoblastic 310.1CDKN2A, MYC
47arteriovenous fistula10.1
48hemangioma10.1
49ulcerative colitis10.1
50giant hemangioma10.1

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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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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MalaCards organs/tissues related to Hepatic Angiomyolipoma:

32
Liver, Small intestine, Testes

Animal Models for Hepatic Angiomyolipoma or affiliated genes

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MGI Mouse Phenotypes related to Hepatic Angiomyolipoma:

36 (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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Articles related to Hepatic Angiomyolipoma:

(show top 50)    (show all 116)
idTitleAuthorsYear
1
Myomatous hepatic angiomyolipoma: imaging findings in 14 cases with radiological-pathological correlation and review of the literature. (24670055)
2014
2
Hepatic angiomyolipoma: what management? (25073214)
2014
3
Comparison of MRI features for the differentiation of hepatic angiomyolipoma from fat-containing hepatocellular carcinoma. (24389893)
2014
4
Alterations of the mTOR Pathway in Hepatic Angiomyolipoma with Emphasis on the Epithelioid Variant and Loss of Heterogeneity of the TSC1/TSC2 Genes. (25234729)
2014
5
Immunohistochemical character of hepatic angiomyolipoma: for its management. (23864864)
2013
6
Early venous return in hepatic angiomyolipoma due to an intratumoral structure resembling an arteriovenous fistula. (23679956)
2013
7
Hepatic angiomyolipoma and neurofibromatosis type 2: a novel association. (24314304)
2013
8
Hepatic angiomyolipoma: CT and MR imaging findings with clinical-pathologic comparison. (22996326)
2013
9
Hepatic angiomyolipoma with minimal fat, mimicking hepatocellular carcinoma. (23091816)
2012
10
Hepatic angiomyolipoma with a giant hemangioma. (22041879)
2011
11
Characteristics and treatment strategy of hepatic angiomyolipoma: a series of 94 patients collected from four institutions. (21451800)
2011
12
Development of hepatic angiomyolipoma accompanied with focal nodular hyperplasia long after treatment of pelvic rhabdomyosarcoma. (21683235)
2011
13
Diagnostic difficulties and treatment strategy of hepatic angiomyolipoma. (22464831)
2011
14
Liver transplantation for giant hepatic angiomyolipoma. (21462294)
2011
15
Hepatic angiomyolipoma and intramural small intestinal schwannoma: a coincidence or a relationship? (19282295)
2010
16
F-18 FDG PET/CT findings in two patients with hepatic angiomyolipoma with and without intratumoral hemorrhage. (20026966)
2010
17
Hemodynamic characterization of hepatic angiomyolipoma with least amount of fat evaluated by contrast-enhanced magnetic resonance angiography. (19319591)
2010
18
Hepatic angiomyolipoma: a case report. (20518257)
2010
19
Assessment of triple-phase CT findings for the differentiation of fat-deficient hepatic angiomyolipoma from hepatocellular carcinoma in non-cirrhotic liver. (19200676)
2010
20
Hepatic angiomyolipoma: dynamic computed tomography features and clinical correlation. (19610144)
2009
21
Wunderlich's syndrome with hepatic angiomyolipoma in tuberous sclerosis. (18626151)
2008
22
Clinical features of hepatic angiomyolipoma. (18522883)
2008
23
Massive hepatic angiomyolipoma in a young woman with tuberous sclerosis complex: significant clinical improvement during tamoxifen treatment. (18436329)
2008
24
Hepatic angiomyolipoma. (18834230)
2008
25
Management of hepatic angiomyolipoma. (17436129)
2007
26
Invasive growth of hepatic angiomyolipoma; a hitherto unreported ominous histological feature. (16722932)
2006
27
Hepatic angiomyolipoma with trace amounts of fat: a case report and literature review. (17071805)
2006
28
Hepatic angiomyolipoma: identification of an efferent vessel to be hepatic vein by contrast-enhanced harmonic ultrasound. (16177023)
2005
29
Hepatic angiomyolipoma demonstrating similar imaging characteristics as hepatocellular carcinoma: one case report. (16463691)
2005
30
Contrast-enhanced ultrasonography in hepatic angiomyolipoma. (15914690)
2005
31
Hepatic angiomyolipoma and hepatic stellate cells share a similar gene expression profile. (15891994)
2005
32
Growth of hepatic angiomyolipoma indicating malignant potential. (15482547)
2004
33
A solitary hepatic lesion: MRI-pathological correlation of an hepatic angiomyolipoma (2004:4b). (15221270)
2004
34
Hepatic angiomyolipoma. (12773992)
2003
35
Hepatic angiomyolipoma associated with splenic hamartoma. (11929179)
2002
36
Hepatic angiomyolipoma: various appearances on two-phase contrast scanning of spiral CT. (11750147)
2002
37
Common and epithelioid variants of hepatic angiomyolipoma exhibit clonal growth and share a distinctive immunophenotype. (10915726)
2000
38
Hepatic angiomyolipoma-misdiagnosis as hepatocellular carcinoma: A report of 14 cases. (11819659)
2000
39
US power Doppler of hepatic angiomyolipoma with low fat content. (10879706)
2000
40
Hepatic angiomyolipoma: a clinicopathologic study of 30 cases and delineation of unusual morphologic variants. (9888702)
1999
41
Hepatic angiomyolipoma with 'oncocyte-like' features. (9870158)
1998
42
Spontaneous rupture of a hepatic angiomyolipoma: CT findings and literature review. (9087353)
1997
43
Hepatic angiomyolipoma: two case reports of caudate-based lesions and review of the literature. (9377758)
1997
44
Hepatic angiomyolipoma: a report of two cases. (8820041)
1996
45
Hepatic angiomyolipoma with minimal fat content: MR demonstration. (8897374)
1996
46
Hepatic angiomyolipoma. (7820028)
1994
47
Hepatic angiomyolipoma pre-operatively diagnosed by imaging. (8218999)
1993
48
Hepatic angiomyolipomas with a deceptive trabecular pattern and HMB-45 reactivity. (1334941)
1992
49
Hepatic angiomyolipoma in a tuberous sclerosis patient. (2401620)
1990
50
Hepatic angiomyolipoma in a tuberous sclerosis patient. (2668223)
1989

Variations for Hepatic Angiomyolipoma

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Expression for genes affiliated with Hepatic Angiomyolipoma

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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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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 kinases37
Aurora C signaling37
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 regulation37
Apoptosis and survival FAS signaling cascades60
Caspase cascade in apoptosis37
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 Cancer37
Integrated Cancer pathway37
Steroid Biosynthesis37
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 response37
8.5MYC, RB1, CDKN2A
26
Show member pathways
Cell cycle37
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 Degradation37
Immune response Antigen presentation by MHC class I60
8.5RB1, MYC, VIM
338.5RB1, MYC, VIM
34
Show member pathways
Signaling Pathways in Glioblastoma37
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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Compounds related to Hepatic Angiomyolipoma according to GeneCards/GeneDecks:

(show top 50)    (show all 101)
idCompoundScoreTop Affiliating Genes
1orcein449.9VIM, DES
2s 100449.8VIM, DES
3tachyplesin i449.7MYC, CDKN2A
4hematoxylin449.4VIM, DES, CDKN2A
5azathioprine44 2 50 1112.4CDKN2A, DES, VIM
64-(methylnitrosamino)-1-(3-pyridyl)-1-butanone449.4RB1, CDKN2A
7guanosine44 24 1111.3CDKN2A, TSC1, VIM
8toluidine449.2VIM, DES
9amsacrine44 1110.2VIM, MYC
10hyaluronic acid44 2410.2DES, VIM, MYC
11hpvs449.1RB1, CDKN2A
12folate449.0CDKN2A, VIM, MYC
13formaldehyde44 2410.0DES, RB1, VIM
145-aza-2deoxycytidine449.0MYC, VIM, CDKN2A
15thymidylate448.9VIM, CDKN2A, RB1
16hmba448.9CDKN2A, MYC, RB1
17depsipeptide448.9MYC, RB1, CDKN2A
18n-(4-hydroxyphenyl)retinamide448.9RB1, MYC, VIM
19glycogen44 249.8MYC, TSC1, DES, VIM
20camptothecin44 61 1110.8RB1, MYC, CDKN2A
21biotin44 24 1110.6RB1, VIM, DES, CDKN2A
22dmso448.6MYC, RB1, VIM
23cyclic amp44 249.5RB1, VIM, DES, CDKN2A
24bromodeoxyuridine448.5VIM, RB1, MYC, DES
25progesterone44 28 61 24 1112.5DES, VIM, CDKN2A, RB1
2612-o-tetradecanoylphorbol 13-acetate448.5DES, VIM, MYC, RB1
27h2o2448.5VIM, CDKN2A, RB1, DES
28vitamin a44 24 1110.5VIM, MYC, RB1
29testosterone44 61 24 1111.5CDKN2A, VIM, RB1, DES
30rapamycin448.4RB1, TSC1, MYC, VIM
31roscovitine448.4RB1, CDKN2A, MYC, VIM
32vincristine44 50 1110.4CDKN2A, RB1, MYC, VIM
33cytarabine44 50 1110.4RB1, VIM, CDKN2A, MYC
34alanine448.4VIM, TSC1, MYC, CDKN2A
35agar448.4CDKN2A, RB1, MYC, VIM
36butyrate448.4MYC, VIM, RB1, CDKN2A
37paclitaxel44 50 1110.4VIM, MYC, RB1, CDKN2A
38genistein44 28 61 2 24 1113.4VIM, MYC, RB1, CDKN2A
39leucine448.3CDKN2A, RB1, MYC, VIM
40oligonucleotide448.2VIM, RB1, MYC, CDKN2A
41dexamethasone44 50 28 1111.2VIM, CDKN2A, MYC, RB1
42threonine448.1CDKN2A, TSC1, DES, MYC, RB1
43adriamycin448.0MYC, VIM, RB1, DES, CDKN2A
44doxorubicin44 50 1110.0DES, VIM, MYC, RB1, CDKN2A
45actinomycin d448.0VIM, MYC, DES, CDKN2A, RB1
46estrogen448.0VIM, RB1, DES, CDKN2A, MYC
47retinoic acid44 249.0DES, VIM, CDKN2A, MYC, RB1
48paraffin447.6MYC, CDKN2A, RB1, TSC1, VIM, DES
49vegf447.6CDKN2A, VIM, MYC, TSC1, RB1, DES
50serine447.5CDKN2A, RB1, MYC, VIM, DES, TSC1

GO Terms for genes affiliated with Hepatic Angiomyolipoma

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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:0081348.5CDKN2A, RB1, MYC
3identical protein bindingGO:0428028.4RB1, VIM, DES
4protein bindingGO:0055157.0DES, VIM, MYC, TSC1, RB1, CDKN2A

Products for genes affiliated with Hepatic Angiomyolipoma

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  • Antibodies
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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet