MCID: LPB001
MIFTS: 34

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 mediastinitis and cervicitis. An important gene associated with Lipoblastoma is HAS2 (Hyaluronan Synthase 2), and among its related pathways are Integrated Cancer Pathway and DNA damage_ATM/ATR regulation of G1/S checkpoint. 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 all 43)
idRelated DiseaseScoreTop Affiliating Genes
1mediastinitis10.2
2cervicitis10.2
3factor xiiia deficiency10.2COL1A2, COL3A1
4rommen mueller sybert syndrome10.1CDK4, MDM2
5primary eye hypotony10.1CDK4, MDM2
6osteomyelitis10.1CDK4, MDM2
7amelogenesis imperfecta-gingival hyperplasia syndrome10.1CDK4, MDM2
8aortic aneurysm10.1CDK4, MDM2
9blood protein disease10.1CDK4, MDM2
10liposarcoma of bone10.1CDK4, MDM2
11apocrine sweat gland neoplasm10.1CDK4, MDM2
12bone leiomyosarcoma10.1CDK4, MDM2
13episodic ataxia10.1CDK4, MDM2
14intracranial liposarcoma10.1CDK4, MDM2
15extraosseous osteosarcoma10.1CDK4, MDM2
16brain stem angioblastoma10.1CDK4, MDM2
17house allergic alveolitis10.1CDK4, MDM2
18pinta disease10.1CDK4, MDM2
19liposarcoma10.1
20hormone producing pituitary cancer10.1CDK4, MDM2
21pleural lipoma10.1CDK4, MDM2
22muscle hypertrophy10.1COL1A2, COL3A1
23lipoma10.0
24childhood immature teratoma of ovary10.0CDK4, MDM2
25liposarcoma of the ovary10.0CDK4, MDM2, PLAG1
26conventional central osteosarcoma10.0CDK4, MDM2
27metachronous osteosarcoma of the bone10.0CDK4, MDM2
28enchondromatosis dwarfism deafness10.0CDK4, MDM2
29myxoid liposarcoma9.9
30neuropathy, distal hereditary motor, type iia9.9COL1A2, COL3A1
31hemangioma9.8
32atypical lipomatous tumor9.8
33glomuvenous malformations9.6
34alopecia9.6
35hepatitis9.6
36fibroma9.6
37inguinal hernia9.6
38diaphragmatic eventration9.6
39ossifying fibroma9.6
40infiltrating lipoma9.6
41intestinal volvulus9.6
42aneurysm9.6
43localized hypertrophic neuropathy8.8CDK4, COL1A2, COL3A1, HAS2, LEP, LEPR

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:00053787.5CDK4, COL1A2, COL3A1, HAS2, LEP, LEPR
8MP: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 251)
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
Erratum to: Spinal dumbbell lipoblastoma: a case-based update. (27550430)
2016
4
Lipoblastoma presenting as a rapidly growing paravertebral mass and masquerading as myxoid liposarcoma on fine needle aspiration cytology. (26919610)
2016
5
Lipoblastomatosis of the retropharyngeal space: pathogenesis, presentation, and management, with a focus on head-neck lipoblastoma(toses). (27097392)
2016
6
Lipoblastoma: an unusual tumour of the left ventricle. (26819289)
2016
7
Lipoblastoma of the Labia: A Case Report. (27343432)
2016
8
Case report of a forearm lipoblastoma. (27773114)
2016
9
Intrascrotal lipoblastoma: report of a case and the review of literature. (27059472)
2016
10
Immunohistochemical expression of p16 in lipoblastomas. (26514741)
2016
11
Spinal dumbbell lipoblastoma: a case-based update. (27444294)
2016
12
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
13
Cervical lipoblastoma: An uncommon presentation. (26214680)
2015
14
Intradermal Lipoblastoma-Like Tumor of the Lip in an Adult Woman. (26358498)
2015
15
Lipoblastoma mimicking inguinal hernia. (25628996)
2015
16
A case of unusual histology of infantile lipoblastoma confirmed by PLAG1 rearrangement. (26943407)
2015
17
Surgical and Anesthetic Management of a Mediastinal Fatty Tumor: Lipoblastoma. (26522578)
2015
18
Lipoblastoma-like tumor of the vulva: further characterization in 8 new cases. (25929353)
2015
19
An unusual case of cervical lipoblastoma with review of literature. (26881589)
2015
20
A rare cause of horner syndrome: pediatric lipoblastoma of the neck. (25974809)
2015
21
Successful laparoscopic extirpation of a large omental lipoblastoma in a child. (26708589)
2015
22
Lipoblastoma and lipoblastomatosis: A clinicopathological study of six cases. (26881660)
2015
23
A Massive Intratumoral Aneurysmal Vessel in a Retroperitoneal Lipoblastoma. (26730109)
2015
24
Huge Mediastinal Lipoblastoma in a Nine Year-old Boy Successfully Removed Surgically. (25800538)
2015
25
Lipoblastoma and lipoblastomatosis of the lower leg. (25302126)
2014
26
Lipoblastoma of the hand and cleft palate: is there a genetic association? (24621768)
2014
27
A giant omental Lipoblastoma in a four-year-old boy. (24955971)
2014
28
Aspiration cytology diagnosis of lipoblastoma of the back. (25057474)
2014
29
Perineal lipoblastoma: a case report and review of literature. (25031762)
2014
30
Pediatric neck mass. Right deep cervical lipoblastoma. (24385017)
2014
31
Recurrent lipoblastoma of upper extremity in a 9-year-old boy. (24713710)
2014
32
Mesenteric lipoblastoma and cervical lipoblastomatosis: ultrasound, elastosonography, and computed tomography findings in two children. (24795830)
2014
33
Primary spinal extradural lipoblastoma: Rare occurrence. (25624950)
2014
34
Lipoblastoma in childhood: about 10 cases. (24647290)
2014
35
Identification of COL3A1 and RAB2A as novel translocation partner genes of PLAG1 in lipoblastoma. (24700772)
2014
36
An isolated digital lipoblastoma. (23789709)
2014
37
Giant gluteal lipoblastoma associated with hepatic haemangioma and bilateral nephromegaly. (24849628)
2014
38
Myxoid lipoblastoma. (23942405)
2013
39
Suprascapular lipoblastoma extending in to the thorax. (24040598)
2013
40
Intrascrotal lipoblastoma in a ten year old: case report and review of literature. (23772297)
2013
41
Giant omental lipoblastoma and CD56 expression. (23519855)
2013
42
Pediatric lipoblastoma of the neck. (24163863)
2013
43
Mediastinal lipoblastoma: unexpected finding of a chest infection. (23737588)
2013
44
A rare case of inguinolabial lipoblastoma in a 13-month-old female. (23103129)
2013
45
Intrascrotal lipoblastoma: a report of two cases and a review of the literature. (23664430)
2013
46
Diagnostic utility of molecular and cytogenetic analysis in lipoblastoma: a study of two cases and review of the literature. (24433523)
2013
47
Lipoblastoma: an interesting differential of paediatric lipoma. (24164664)
2013
48
A novel PLAG1-RAD51L1 gene fusion resulting from a t(8;14)(q12;q24) in a case of lipoblastoma. (23890983)
2013
49
Lipoblastoma in an 8-year-old child: an atypical presentation of a rare tumor. (23760339)
2013
50
Desmin-positivity in spindle cells: under-recognized immunophenotype of lipoblastoma. (23865573)
2013

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
3adipose tissue developmentGO:006061210.3CDK4, LEP
4bone growthGO:009886810.2LEP, LEPR
5energy reserve metabolic processGO:000611210.2LEP, LEPR
6leptin-mediated signaling pathwayGO:003321010.2LEP, LEPR
7negative regulation of autophagyGO:001050710.2LEP, 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