Details of Disease

General Information of Disease (ID: DIS2L71N)

Disease Name Angiomyolipoma
Synonyms angiomyolipoma (morphologic abnormality)
Definition
A neoplasm with perivascular epithelioid cell differentiation often associated with tuberous sclerosis. It is characterized by a mixture of epithelioid cells, smooth muscle, vessels, and mature adipose tissue. The kidney is the most common site of involvement. Other sites of involvement include the liver, lung, lymph nodes, and retroperitoneum. The vast majority of cases follow a benign clinical course. However, cases of metastatic angiomyolipomas with sarcomatoid features have been described.
Disease Hierarchy
DIS8V0NT: Neoplasm with perivascular epithelioid cell differentiation
DIS2L71N: Angiomyolipoma
Disease Identifiers
MONDO ID
MONDO_0002603
MESH ID
D018207
UMLS CUI
C0206633
MedGen ID
64622
SNOMED CT ID
19929002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 8 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
MLANA TT362RB moderate Biomarker [1]
SLC12A3 TTP362L moderate Genetic Variation [2]
CDKL2 TTMO45N Strong Biomarker [3]
CSPG4 TT7MYXI Strong Altered Expression [4]
MELTF TT8OBT3 Strong Biomarker [1]
PDGFC TTOABM9 Strong Biomarker [5]
PMEL TT8MK59 Strong Biomarker [6]
VEGFD TTOM5H4 Strong Altered Expression [7]
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⏷ Show the Full List of 8 DTT(s)
This Disease Is Related to 7 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TESC OTI8C76M moderate Genetic Variation [2]
CCDC91 OTLZNXDL Strong Biomarker [3]
CHL1 OT6E6E8P Strong Altered Expression [4]
IFIT1 OTXOQDSG Strong Biomarker [3]
PKD1 OT5ALRZ5 Strong Genetic Variation [8]
PSMC1 OTLHD56E Strong Biomarker [3]
RTL1 OTOT33IM Strong Biomarker [6]
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⏷ Show the Full List of 7 DOT(s)

References

1 Differential expression of melanocytic markers in myoid, lipomatous, and vascular components of renal angiomyolipomas.Arch Pathol Lab Med. 2007 Jan;131(1):122-5. doi: 10.5858/2007-131-122-DEOMMI.
2 Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2.Eur J Hum Genet. 2015 Dec;23(12):1665-72. doi: 10.1038/ejhg.2015.47. Epub 2015 Mar 18.
3 Mutation in TSC2 and activation of mammalian target of rapamycin signalling pathway in renal angiomyolipoma.Lancet. 2003 Apr 19;361(9366):1348-9. doi: 10.1016/S0140-6736(03)13044-9.
4 Expression of the neural stem cell markers NG2 and L1 in human angiomyolipoma: are angiomyolipomas neoplasms of stem cells?.Mol Med. 2007 Mar-Apr;13(3-4):160-5. doi: 10.2119/2006?0070.Lim.
5 Analysis of the oestrogen response in an angiomyolipoma derived xenograft model.Endocr Relat Cancer. 2009 Mar;16(1):59-72. doi: 10.1677/ERC-08-0123. Epub 2008 Nov 6.
6 Immunohistochemical and reverse transcription-polymerase chain reaction expression analysis of tyrosinase and microphthalmia-associated transcription factor in angiomyolipomas.Appl Immunohistochem Mol Morphol. 2001 Mar;9(1):29-34.
7 Functional improvements in patients with lymphangioleiomyomatosis after sirolimus: an observational study.Orphanet J Rare Dis. 2018 Feb 20;13(1):34. doi: 10.1186/s13023-018-0775-9.
8 Renal disease in tuberous sclerosis complex: pathogenesis and therapy.Nat Rev Nephrol. 2018 Nov;14(11):704-716. doi: 10.1038/s41581-018-0059-6.