MCID: LPB001
MIFTS: 34

Lipoblastoma malady

Rare diseases, Cancer diseases categories

Aliases & Classifications for Lipoblastoma

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Sources:
45NIH Rare Diseases, 51Orphanet, 65UMLS, 66UMLS via Orphanet
See all sources

Aliases & Descriptions for Lipoblastoma:

Name: Lipoblastoma 45 51 65


Classifications:

Orphanet: 51 
Rare tumors


Characteristics (Orphanet epidemiological data):

51
lipoblastoma:
Inheritance: Not applicable; Age of onset: Childhood


External Ids:

Orphanet51 247762
UMLS via Orphanet66 C1260965

Summaries for Lipoblastoma

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Wikipedia:68 Lipoblastoma is a type of subcutaneous benign fatty tumor. more...

MalaCards based summary: Lipoblastoma is related to myxoid liposarcoma and mediastinitis. An important gene associated with Lipoblastoma is HAS2 (Hyaluronan Synthase 2), and among its related pathways are Inflammatory Response Pathway and Platelet Aggregation Inhibitor Pathway, Pharmacodynamics. Affiliated tissues include breast, bone and adipocyte, and related mouse phenotypes are skeleton and limbs/digits/tail.

Related Diseases for Lipoblastoma

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Diseases related to Lipoblastoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 53)
idRelated DiseaseScoreTop Affiliating Genes
1myxoid liposarcoma30.4CDK4, MDM2
2mediastinitis10.6
3cervicitis10.5
4lipoma10.4
5liposarcoma10.4
6hemangioma10.2
7atypical lipomatous tumor10.2
8larsen-like syndrome10.2COL1A2, COL3A1
9autosomal dominant microcephaly10.2COL1A2, COL3A1
10ring chromosome 810.1CDK4, MDM2
11adenocarcinoma in situ10.1CDK4, MDM2
12antenatal multiminicore disease with arthrogryposis multiplex congenita10.1CDK4, MDM2
13esophageal lipoma10.1CDK4, MDM2
14cheek mucosa cancer10.1CDK4, MDM2
15bone remodeling disease10.1CDK4, MDM2
16type c thymoma10.1CDK4, MDM2
17laryngeal mucoepidermoid carcinoma10.1CDK4, MDM2
18metabolic syndrome x10.1CDK4, MDM2
19extrahepatic bile duct lipoma10.1CDK4, MDM2
20autosomal dominant charcot-marie-tooth disease type 2a210.1CDK4, MDM2
21kidney lipoma10.1CDK4, MDM2
22lumbosacral lipoma10.1CDK4, MDM2
23ehlers-danlos syndrome, classic type10.1COL1A2, COL3A1
24acute frontal sinusitis10.1CDK4, MDM2
25embryonal tumor with multilayered rosettes10.1CDK4, MDM2
26autosomal dominant charcot-marie-tooth disease type 2f10.1CDK4, MDM2
27keratoacanthoma10.1CDK4, MDM2
28malignant ovarian surface epithelial-stromal neoplasm10.1CDK4, MDM2
29angiomyolipoma10.1CDK4, MDM2
30malignant gastric germ cell tumor10.1CDK4, MDM2
31peripheral primitive neuroectodermal tumor10.1CDK4, MDM2
32anaplastic plasmacytoma10.1CDK4, MDM2
33lacrimal gland mucoepidermoid carcinoma10.1CDK4, MDM2
34leptomeningeal amyloidosis10.1LEP, LEPR
35juvenile astrocytoma10.1CDK4, MDM2
36retinal degeneration10.0CDK4, MDM2
37glomuvenous malformations10.0
38alopecia10.0
39hepatitis10.0
40ossifying fibroma10.0
41diaphragmatic eventration10.0
42infiltrating lipoma10.0
43inguinal hernia10.0
44fibroma10.0
45rhabdomyosarcoma 2, alveolar10.0CDK4, MDM2
46biotin deficiency10.0COL1A2, LEP
47atypical polypoid adenomyoma10.0CDK4, MDM2, PLAG1
48necrosis of ear ossicle10.0CDK4, MDM2
49sex cord-gonadal stromal tumor10.0LEP, LEPR
50connective tissue disease10.0CDK4, MDM2

Graphical network of the top 20 diseases related to Lipoblastoma:



Diseases related to lipoblastoma

Symptoms for Lipoblastoma

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Drugs & Therapeutics for Lipoblastoma

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Lipoblastoma

Genetic Tests for Lipoblastoma

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Anatomical Context for Lipoblastoma

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MalaCards organs/tissues related to Lipoblastoma:

33
Breast, Bone, Adipocyte, Testes, Kidney, Skin

Animal Models for Lipoblastoma or affiliated genes

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MGI Mouse Phenotypes related to Lipoblastoma:

38 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.5COL1A2, HAS2, LEP, LEPR, MDM2
2MP:00053718.4COL1A2, HAS2, LEP, LEPR, MDM2
3MP:00053808.2CDK4, HAS2, LEP, MDM2, PLAG1
4MP:00053818.2CDK4, COL3A1, LEP, LEPR, MDM2
5MP:00053708.2CDK4, COL3A1, LEP, LEPR, MDM2
6MP:00020068.0CDK4, LEP, LEPR, MDM2
7MP:00053867.7CDK4, COL1A2, HAS2, LEP, LEPR, MDM2
8MP:00107717.5CDK4, COL1A2, COL3A1, LEP, LEPR, MDM2
9MP:00053697.5CDK4, COL1A2, COL3A1, HAS2, LEP, LEPR
10MP:00053857.4CDK4, COL1A2, COL3A1, HAS2, LEP, LEPR
11MP:00107687.3CDK4, COL1A2, COL3A1, HAS2, LEP, LEPR
12MP:00053786.8CDK4, COL1A2, COL3A1, HAS2, LEP, LEPR

Publications for Lipoblastoma

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Articles related to Lipoblastoma:

(show top 50)    (show all 231)
idTitleAuthorsYear
1
Cervical lipoblastoma: An uncommon presentation. (26214680)
2015
2
Lipoblastoma mimicking inguinal hernia. (25628996)
2015
3
Lipoblastoma and lipoblastomatosis of the lower leg. (25302126)
2014
4
An isolated digital lipoblastoma. (23789709)
2014
5
Recurrent lipoblastoma of upper extremity in a 9-year-old boy. (24713710)
2014
6
Identification of COL3A1 and RAB2A as novel translocation partner genes of PLAG1 in lipoblastoma. (24700772)
2014
7
Giant gluteal lipoblastoma associated with hepatic haemangioma and bilateral nephromegaly. (24849628)
2014
8
Desmin-positivity in spindle cells: under-recognized immunophenotype of lipoblastoma. (23865573)
2013
9
Diagnostic utility of molecular and cytogenetic analysis in lipoblastoma: a study of two cases and review of the literature. (24433523)
2013
10
A novel PLAG1-RAD51L1 gene fusion resulting from a t(8;14)(q12;q24) in a case of lipoblastoma. (23890983)
2013
11
Giant omental lipoblastoma and CD56 expression. (23519855)
2013
12
Intrascrotal lipoblastoma in a ten year old: case report and review of literature. (23772297)
2013
13
Multifocal lipoblastoma of the face. (23172486)
2012
14
A giant mesenteric lipoblastoma in an 18-month old infant: a case report and review of the literature. (22248900)
2011
15
Intrathoracic lipoblastoma in a 15-month-old infant. (22355506)
2011
16
A case of lipoblastoma with seven copies of chromosome 8. (19264235)
2009
17
Lipoblastoma--an unfamiliar but important diagnosis. A case series and literature review. (19774822)
2009
18
Mesenteric lipoblastoma presenting as a segmental volvulus. (19231517)
2009
19
Lipoblastoma on the posterior side of the neck. (19817275)
2009
20
Lipoblastoma in adolescents and young adults: report of six cases with FISH analysis. (18269579)
2008
21
Lipoblastoma in children: an analysis of 5 cases. (19051470)
2008
22
Lipoblastoma: appreciation of an expanded spectrum of disease through cytogenetic analysis. (18788858)
2008
23
Unusual breast enlargement in an infant: a case of breast lipoblastoma. (17051354)
2007
24
Congenital lipoblastoma in a neonate calf: first report in veterinary literature. (17355429)
2007
25
Benign intrascrotal lipoblastoma in a child. (17826513)
2007
26
Lipoblastoma and infantile lipoma. (17146210)
2006
27
A thoracic wall lipoblastoma in a 3-month-old infant: A case report and review of the literature. (17006266)
2006
28
Lipoblastoma in a four-year-old African child. (16338874)
2005
29
Lipoblastoma of the neck mimicking cystic hygroma. (15746874)
2005
30
Lipoblastoma in an 11-month-old infant. (15322609)
2004
31
Intrascrotal lipoblastoma with a complex karyotype: a case report and review of the literature. (15214818)
2004
32
Axillary lipoblastoma--tumor recurrence in the right atrium. (12891504)
2003
33
Primary cardiac lipoblastoma. (11370265)
2001
34
PLAG1 fusion oncogenes in lipoblastoma. (10987300)
2000
35
Lipoblastoma with aberration in the long arm of chromosome 8. (10982693)
2000
36
A further case of chromosome 8q rearrangement in lipoblastoma. (11037871)
2000
37
Ruptured giant intrathoracic lipoblastoma in a 4-month-old infant: CT and MR findings. (10663508)
2000
38
Evidence by spectral karyotyping that 8q11.2 is nonrandomly involved in lipoblastoma. (11272891)
2000
39
"Lipoblastoma-like" lipoatrophy induced by human insulin: morphological evidence for local dedifferentiation of adipocytes? (10952472)
2000
40
Lipoblastoma: MRI appearances of a rare paediatric soft tissue tumour. (10398794)
1999
41
Lipoblastoma presenting as a mesenteric mass in an infant. (9856685)
1998
42
Chromosomal aberration in lipoblastoma: a case with 46,XX,ins(8;6)(q11.2;q13q27). (9169035)
1997
43
Lipoblastoma of the foot. (8741069)
1996
44
An unusual intrathoracic tumor: giant lipoblastoma. (7756235)
1995
45
New discriminative chromosomal marker in adipose tissue tumors. The chromosome 8q11-q13 region in lipoblastoma. (7828158)
1994
46
Potential diagnostic implications of breakpoints in the long arm of chromosome 8 in lipoblastoma. (8076349)
1994
47
Lipoblastoma and lipoblastomatosis--a report of six cases. (3413688)
1988
48
Benign lipoblastoma in the mandible. (6841120)
1983
49
Benign lipoblastoma in the neck causing respiratory insufficiency. (6865630)
1983
50
Benign lipoblastoma and myxoid liposarcoma: a comparative light- and electron-microscopic study. (7377463)
1980

Variations for Lipoblastoma

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Expression for genes affiliated with Lipoblastoma

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Search GEO for disease gene expression data for Lipoblastoma.

Pathways for genes affiliated with Lipoblastoma

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GO Terms for genes affiliated with Lipoblastoma

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Biological processes related to Lipoblastoma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1negative regulation of cell cycle arrestGO:00711579.8CDK4, MDM2
2cellular response to amino acid stimulusGO:00712309.7COL1A2, COL3A1
3collagen fibril organizationGO:00301999.6COL1A2, COL3A1
4positive regulation of cell proliferationGO:00082848.7CDK4, HAS2, LEP, MDM2

Molecular functions related to Lipoblastoma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1SMAD bindingGO:00463329.7COL1A2, COL3A1
2platelet-derived growth factor bindingGO:00484079.7COL1A2, COL3A1
3extracellular matrix structural constituentGO:00052019.4COL1A2, COL3A1

Sources for Lipoblastoma

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet