MCID: LPB001
MIFTS: 35

Lipoblastoma malady

Category: Rare diseases

Aliases & Classifications for Lipoblastoma

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Sources:
48NIH Rare Diseases, 54Orphanet, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Lipoblastoma:

Name: Lipoblastoma 48 54 68

Characteristics:

Orphanet epidemiological data:

54
lipoblastoma:
Inheritance: Not applicable; Age of onset: Childhood

Classifications:



External Ids:

Orphanet54 ORPHA247762
UMLS via Orphanet69 C1260965

Summaries for Lipoblastoma

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Wikipedia:71 Lipoblastoma is a type of subcutaneous benign fatty tumor. more...

MalaCards based summary: Lipoblastoma is related to deafness, autosomal recessive 91 and chromosome 7p duplication. An important gene associated with Lipoblastoma is HAS2 (Hyaluronan Synthase 2), and among its related pathways are DNA damage_ATM/ATR regulation of G1/S checkpoint and Oncogene Induced Senescence. Affiliated tissues include breast, bone and adipocyte, and related mouse phenotypes are limbs/digits/tail and digestive/alimentary.

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 59)
idRelated DiseaseScoreTop Affiliating Genes
1deafness, autosomal recessive 9110.3COL1A2, COL3A1
2chromosome 7p duplication10.3CDK4, MDM2
3epidural spinal canal angiolipoma10.3CDK4, MDM2
4osteogenesis imperfecta10.3CDK4, MDM2
5familial long qt syndrome10.3CDK4, MDM2
6skin lipoma10.3CDK4, MDM2
7conjunctivitis10.3CDK4, MDM2
8conventional central osteosarcoma10.3CDK4, MDM2
9pediatric osteosarcoma10.3CDK4, MDM2
10localized chondrosarcoma10.2CDK4, MDM2
11spindle cell liposarcoma10.2CDK4, MDM2
12pleuropulmonary blastoma type 210.2CDK4, MDM2
13fibrosarcoma10.2CDK4, MDM2
14kidney lipoma10.2CDK4, MDM2
15breast capillary hemangioma10.2CDK4, MDM2
16cholelithiasis10.2CDK4, MDM2
17vulvar liposarcoma10.2CDK4, MDM2
18lumbosacral lipoma10.2CDK4, MDM2
19toxascariasis10.2CDK4, MDM2
20mediastinitis10.2
21bone osteosarcoma10.2CDK4, MDM2
22emerinopathy10.2CDK4, MDM2
23vulvar sebaceous carcinoma10.2CDK4, MDM2
24hodgkin's lymphoma, lymphocytic-histiocytic predominance10.2COL1A2, COL3A1
25small cell osteogenic sarcoma10.2CDK4, MDM2
26epidural neoplasm10.2CDK4, MDM2
27cervicitis10.2
28localized osteosarcoma10.2CDK4, MDM2
29strongyloidiasis10.2COL1A2, COL3A1
30bilateral retinoblastoma10.1CDK4, MDM2
31placental choriocarcinoma10.1CDK4, MDM2
32pharynx cancer10.1CDK4, MDM2
33liposarcoma10.1
34lipoma10.0
35rhabdomyosarcoma 2, alveolar10.0CDK4, MDM2
36deafness, x-linked 510.0LEP, LEPR
37vitamin d-dependent rickets, type i10.0CDK4, MDM2
38cellular myxoid liposarcoma10.0CDK4, MDM2, PLAG1
39hordeolum externum10.0LEP, LEPR
40ascending colon cancer10.0CDK4, MDM2
41myxoid liposarcoma9.9
42lymphosarcoma9.9LEP, LEPR
43periodontal disease9.9CDK4, MDM2
44clear cell sarcoma9.9CDK4, MDM2
45fallopian tube adenosarcoma9.8CDK4, MDM2
46hemangioma9.8
47atypical lipomatous tumor9.8
48glomuvenous malformations9.6
49alopecia9.6
50hepatitis9.6

Graphical network of the top 20 diseases related to Lipoblastoma:



Diseases related to lipoblastoma

Symptoms & Phenotypes for Lipoblastoma

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MGI Mouse Phenotypes related to Lipoblastoma according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.2COL1A2, HAS2, LEP, LEPR, MDM2
2MP:00053818.7CDK4, COL3A1, LEP, LEPR, MDM2
3MP:00053808.7CDK4, HAS2, LEP, LEPR, MDM2, PLAG1
4MP:00053708.6CDK4, COL3A1, LEP, LEPR, MDM2
5MP:00107718.3CDK4, COL1A2, COL3A1, LEP, LEPR, MDM2
6MP:00053858.1CDK4, COL1A2, COL3A1, HAS2, LEP, LEPR
7MP:00053768.0CDK4, COL1A2, COL3A1, HAS2, LEP, LEPR
8MP:00053787.5CDK4, COL1A2, COL3A1, HAS2, LEP, LEPR
9MP:00053697.2CDK4, COL1A2, COL3A1, HAS2, LEP, LEPR

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:

36
Breast, Bone, Adipocyte, Testes, Skin, Kidney, Small intestine

Publications for Lipoblastoma

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Articles related to Lipoblastoma:

(show top 50)    (show all 250)
idTitleAuthorsYear
1
Lipoblastoma in children: A review of 12 cases. (28083971)
2017
2
Mesenteric lipoblastoma presenting as a small intestinal volvulus in an infant: A case report and literature review. (28034384)
2017
3
Immunohistochemical expression of p16 in lipoblastomas. (26514741)
2016
4
Undifferentiated myxoid lipoblastoma with PLAG1-HAS2 fusion in an infant; morphologically mimicking primitive myxoid mesenchymal tumor of infancy (PMMTI)-diagnostic importance of cytogenetic and molecular testing and literature review. (26701195)
2016
5
Case report of a forearm lipoblastoma. (27773114)
2016
6
Lipoblastoma presenting as a rapidly growing paravertebral mass and masquerading as myxoid liposarcoma on fine needle aspiration cytology. (26919610)
2016
7
Intrascrotal lipoblastoma: report of a case and the review of literature. (27059472)
2016
8
Lipoblastoma of the Labia: A Case Report. (27343432)
2016
9
Lipoblastoma: an unusual tumour of the left ventricle. (26819289)
2016
10
Lipoblastomatosis of the retropharyngeal space: pathogenesis, presentation, and management, with a focus on head-neck lipoblastoma(toses). (27097392)
2016
11
Spinal dumbbell lipoblastoma: a case-based update. (27444294)
2016
12
A Massive Intratumoral Aneurysmal Vessel in a Retroperitoneal Lipoblastoma. (26730109)
2015
13
Surgical and Anesthetic Management of a Mediastinal Fatty Tumor: Lipoblastoma. (26522578)
2015
14
An unusual case of cervical lipoblastoma with review of literature. (26881589)
2015
15
Lipoblastoma and lipoblastomatosis: A clinicopathological study of six cases. (26881660)
2015
16
Cervical lipoblastoma: An uncommon presentation. (26214680)
2015
17
Lipoblastoma mimicking inguinal hernia. (25628996)
2015
18
A case of unusual histology of infantile lipoblastoma confirmed by PLAG1 rearrangement. (26943407)
2015
19
Intradermal Lipoblastoma-Like Tumor of the Lip in an Adult Woman. (26358498)
2015
20
Lipoblastoma-like tumor of the vulva: further characterization in 8 new cases. (25929353)
2015
21
Successful laparoscopic extirpation of a large omental lipoblastoma in a child. (26708589)
2015
22
Huge Mediastinal Lipoblastoma in a Nine Year-old Boy Successfully Removed Surgically. (25800538)
2015
23
A rare cause of horner syndrome: pediatric lipoblastoma of the neck. (25974809)
2015
24
Identification of COL3A1 and RAB2A as novel translocation partner genes of PLAG1 in lipoblastoma. (24700772)
2014
25
Giant gluteal lipoblastoma associated with hepatic haemangioma and bilateral nephromegaly. (24849628)
2014
26
A giant omental Lipoblastoma in a four-year-old boy. (24955971)
2014
27
Perineal lipoblastoma: a case report and review of literature. (25031762)
2014
28
Lipoblastoma of the hand and cleft palate: is there a genetic association? (24621768)
2014
29
Primary spinal extradural lipoblastoma: Rare occurrence. (25624950)
2014
30
Aspiration cytology diagnosis of lipoblastoma of the back. (25057474)
2014
31
Lipoblastoma and lipoblastomatosis of the lower leg. (25302126)
2014
32
An isolated digital lipoblastoma. (23789709)
2014
33
Recurrent lipoblastoma of upper extremity in a 9-year-old boy. (24713710)
2014
34
Mesenteric lipoblastoma and cervical lipoblastomatosis: ultrasound, elastosonography, and computed tomography findings in two children. (24795830)
2014
35
Pediatric neck mass. Right deep cervical lipoblastoma. (24385017)
2014
36
Lipoblastoma in childhood: about 10 cases. (24647290)
2014
37
Desmin-positivity in spindle cells: under-recognized immunophenotype of lipoblastoma. (23865573)
2013
38
Diagnostic utility of molecular and cytogenetic analysis in lipoblastoma: a study of two cases and review of the literature. (24433523)
2013
39
Intrascrotal lipoblastoma in a ten year old: case report and review of literature. (23772297)
2013
40
A rare case of inguinolabial lipoblastoma in a 13-month-old female. (23103129)
2013
41
Myxoid lipoblastoma. (23942405)
2013
42
Lipoblastoma in an 8-year-old child: an atypical presentation of a rare tumor. (23760339)
2013
43
A novel PLAG1-RAD51L1 gene fusion resulting from a t(8;14)(q12;q24) in a case of lipoblastoma. (23890983)
2013
44
Giant omental lipoblastoma and CD56 expression. (23519855)
2013
45
Mediastinal lipoblastoma: unexpected finding of a chest infection. (23737588)
2013
46
Pediatric lipoblastoma of the neck. (24163863)
2013
47
Suprascapular lipoblastoma extending in to the thorax. (24040598)
2013
48
Intrascrotal lipoblastoma: a report of two cases and a review of the literature. (23664430)
2013
49
Lipoblastoma: an interesting differential of paediatric lipoma. (24164664)
2013
50
Multifocal lipoblastoma of the face. (23172486)
2012

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:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of cell cycle arrestGO:007115710.3CDK4, MDM2
2positive regulation of cell cycleGO:004578710.3CDK4, MDM2
3bone growthGO:009886810.2LEP, LEPR
4energy reserve metabolic processGO:000611210.2LEP, LEPR
5leptin-mediated signaling pathwayGO:003321010.2LEP, LEPR
6negative regulation of autophagyGO:001050710.2LEP, LEPR
7phagocytosisGO:000690910.2LEP, LEPR
8regulation of bone remodelingGO:004685010.0LEP, LEPR
9cellular response to amino acid stimulusGO:007123010.0COL1A2, COL3A1
10collagen fibril organizationGO:003019910.0COL1A2, COL3A1
11sexual reproductionGO:001995310.0LEP, LEPR
12T cell differentiationGO:00302179.5LEP, LEPR
13blood vessel developmentGO:00015689.5COL1A2, COL3A1, MDM2
14positive regulation of cell proliferationGO:00082849.3CDK4, HAS2, LEP, MDM2

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

idNameGO IDScoreTop Affiliating Genes
1platelet-derived growth factor bindingGO:00484079.8COL1A2, COL3A1
2SMAD bindingGO:00463329.3COL1A2, COL3A1

Sources for Lipoblastoma

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet