MCID: LPB001
MIFTS: 35

Lipoblastoma malady

Category: Rare diseases

Aliases & Classifications for Lipoblastoma

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Sources:
47NIH Rare Diseases, 53Orphanet, 67UMLS, 68UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Lipoblastoma:

Name: Lipoblastoma 47 53 67

Characteristics:

Orphanet epidemiological data:

53
lipoblastoma:
Inheritance: Not applicable; Age of onset: Childhood

Classifications:



External Ids:

Orphanet53 ORPHA247762
UMLS via Orphanet68 C1260965

Summaries for Lipoblastoma

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Wikipedia:70 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 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:

35
Breast, Bone, Adipocyte, Testes, Skin, Kidney, Small intestine

Animal Models for Lipoblastoma or affiliated genes

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MGI Mouse Phenotypes related to Lipoblastoma:

40
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

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
Immunohistochemical expression of p16 in lipoblastomas. (26514741)
2016
3
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
4
Case report of a forearm lipoblastoma. (27773114)
2016
5
Lipoblastoma presenting as a rapidly growing paravertebral mass and masquerading as myxoid liposarcoma on fine needle aspiration cytology. (26919610)
2016
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
A giant omental Lipoblastoma in a four-year-old boy. (24955971)
2014
9
Desmin-positivity in spindle cells: under-recognized immunophenotype of lipoblastoma. (23865573)
2013
10
Diagnostic utility of molecular and cytogenetic analysis in lipoblastoma: a study of two cases and review of the literature. (24433523)
2013
11
Intrascrotal lipoblastoma in a ten year old: case report and review of literature. (23772297)
2013
12
A rare case of inguinolabial lipoblastoma in a 13-month-old female. (23103129)
2013
13
Multifocal lipoblastoma of the face. (23172486)
2012
14
Retroperitoneal lipoblastoma: a discussion of current management. (23084233)
2012
15
Lipoblastoma mimicking myxoid liposarcoma: a clinical report and literature review. (21212605)
2011
16
Acute respiratory distress caused by a giant mediastinal lipoblastoma in a 16-month-old boy. (22115267)
2011
17
Lipoblastoma-like tumour of the lip in an adult woman. (20814641)
2010
18
Lipoblastoma--an unfamiliar but important diagnosis. A case series and literature review. (19774822)
2009
19
Mesenteric lipoblastoma presenting as a segmental volvulus. (19231517)
2009
20
Giant mesenteric lipoblastoma in a 4-year-old child. (19361656)
2009
21
A collection of rare anomalies: multiple digital glomuvenous malformations, epidermal naevus, temporal alopecia, heterochromia and abdominal lipoblastoma. (20055849)
2009
22
A case of maturing perineal lipoblastoma in an infant. (19494545)
2009
23
Lipoblastoma in children: an analysis of 5 cases. (19051470)
2008
24
Lipoblastoma: appreciation of an expanded spectrum of disease through cytogenetic analysis. (18788858)
2008
25
Contemporary management of lipoblastoma. (18639685)
2008
26
Fine-needle aspiration cytology of a lipoblastoma: a case report. (18528880)
2008
27
Unusual breast enlargement in an infant: a case of breast lipoblastoma. (17051354)
2007
28
Congenital lipoblastoma in a neonate calf: first report in veterinary literature. (17355429)
2007
29
Benign intrascrotal lipoblastoma in a child. (17826513)
2007
30
Lipoblastoma--a rare paediatric foot tumour. (17715735)
2007
31
Intrapelvic lipoblastoma with massive spinal canal invasion. (17143644)
2007
32
Surgical management of lipoblastoma. (16769336)
2006
33
Lipoblastoma in a four-year-old African child. (16338874)
2005
34
Infantile cervical lipoblastoma: a case report and review of the literature. (15015175)
2004
35
Axillary lipoblastoma--tumor recurrence in the right atrium. (12891504)
2003
36
Fine needle aspiration diagnosis of lipoblastoma of the parotid region. A case report. (11917592)
2002
37
Lipoblastoma. (11381423)
2001
38
Evidence by spectral karyotyping that 8q11.2 is nonrandomly involved in lipoblastoma. (11272891)
2000
39
Lipoblastoma of the neck. (10878874)
2000
40
Lipoblastoma presenting as a mesenteric mass in an infant. (9856685)
1998
41
Lipoblastoma: a case with t(7;8)(q31;q13). (9530333)
1998
42
Congenital orbital lipoblastoma: a pathologic and radiologic study. (9168428)
1997
43
Lipoblastoma in the parotid gland of an infant. (9419158)
1997
44
Lipoblastoma of the foot. (8741069)
1996
45
Two rapidly growing fatty tumors of the upper limb in children: lipoblastoma and infiltrating lipoma. (7722258)
1995
46
Shoulder lipoblastoma: magnetic resonance imaging characteristics. (8504336)
1993
47
Case report 675: Lipoblastoma of knee. (1853230)
1991
48
Parotid lipoblastoma in an infant. (3429147)
1987
49
Benign lipoblastoma in the mandible. (6841120)
1983
50
Benign lipoblastoma in the neck causing respiratory insufficiency. (6865630)
1983

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
1bone growthGO:009886810.2LEP, LEPR
2energy reserve metabolic processGO:000611210.2LEP, LEPR
3negative regulation of cell cycle arrestGO:007115710.2CDK4, MDM2
4positive regulation of cell cycleGO:004578710.2CDK4, MDM2
5sexual reproductionGO:001995310.1LEP, LEPR
6leptin-mediated signaling pathwayGO:003321010.1LEP, LEPR
7regulation of bone remodelingGO:004685010.1LEP, LEPR
8negative regulation of autophagyGO:00105079.9LEP, LEPR
9T cell differentiationGO:00302179.7LEP, LEPR
10phagocytosisGO:00069099.7LEP, LEPR
11collagen fibril organizationGO:00301999.4COL1A2, COL3A1
12cellular response to amino acid stimulusGO:00712309.2COL1A2, COL3A1
13blood vessel developmentGO:00015689.1COL1A2, COL3A1, MDM2
14positive regulation of cell proliferationGO:00082848.8CDK4, HAS2, LEP, MDM2

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

idNameGO IDScoreTop Affiliating Genes
1platelet-derived growth factor bindingGO:00484079.3COL1A2, COL3A1
2SMAD bindingGO:00463329.3COL1A2, COL3A1

Sources for Lipoblastoma

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet