MCID: LPB001
MIFTS: 36

Lipoblastoma

Categories: Rare diseases

Aliases & Classifications for Lipoblastoma

MalaCards integrated aliases for Lipoblastoma:

Name: Lipoblastoma 54 60 74

Characteristics:

Orphanet epidemiological data:

60
lipoblastoma
Inheritance: Not applicable; Age of onset: Childhood;

Classifications:



External Ids:

UMLS via Orphanet 75 C1260965
Orphanet 60 ORPHA247762
UMLS 74 C1260965

Summaries for Lipoblastoma

MalaCards based summary : Lipoblastoma is related to myxoid liposarcoma and lipomatosis, multiple. An important gene associated with Lipoblastoma is HAS2 (Hyaluronan Synthase 2), and among its related pathways/superpathways are AMP-activated Protein Kinase (AMPK) Signaling and Endothelins. Affiliated tissues include bone, colon and testes, and related phenotypes are cardiovascular system and growth/size/body region

Wikipedia : 77 Lipoblastoma is a type of subcutaneous benign fatty... more...

Related Diseases for Lipoblastoma

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

(show top 50) (show all 54)
# Related Disease Score Top Affiliating Genes
1 myxoid liposarcoma 30.7 CDK4 MDM2
2 lipomatosis, multiple 30.6 CDK4 MDM2
3 atypical lipomatous tumor 30.4 CDK4 MDM2
4 infiltrating lipoma 30.1 CDK4 MDM2
5 liposarcoma 10.4
6 pleomorphic lipoma 10.3
7 larsen-like syndrome 10.2 COL1A2 COL3A1
8 ehlers-danlos syndrome, classic type, 1 10.2 COL1A2 COL3A1
9 ring chromosome 7 10.2 CDK4 MDM2
10 undifferentiated embryonal sarcoma of the liver 10.2 CDK4 MDM2
11 embryonal sarcoma 10.2 CDK4 MDM2
12 infiltrating angiolipoma 10.1 CDK4 MDM2
13 spindle cell lipoma 10.1 CDK4 MDM2
14 cellular myxoid liposarcoma 10.1 CDK4 MDM2
15 inflammatory mfh 10.1 CDK4 MDM2
16 malignant fibrous histiocytoma of bone 10.1 CDK4 MDM2
17 bone osteosarcoma 10.1 CDK4 MDM2
18 mixed liposarcoma 10.1 CDK4 MDM2
19 periosteal chondrosarcoma 10.1 CDK4 MDM2
20 chondroid lipoma 10.1 CDK4 MDM2
21 spindle cell liposarcoma 10.1 CDK4 MDM2
22 periosteal osteogenic sarcoma 10.1 CDK4 MDM2
23 ischemic fasciitis 10.1 CDK4 MDM2
24 well-differentiated liposarcoma 10.1 CDK4 MDM2
25 dedifferentiated liposarcoma 10.1 CDK4 MDM2
26 hemangioma 10.1
27 intestinal volvulus 10.1
28 spondyloepiphyseal dysplasia congenita 10.1 COL1A2 COL3A1
29 small cell sarcoma 10.1 CDK4 MDM2
30 collagen disease 10.1 COL1A2 COL3A1
31 juxtacortical osteosarcoma 10.1 CDK4 MDM2
32 peripheral osteosarcoma 10.1 CDK4 MDM2
33 malignant fibroxanthoma 10.1 CDK4 MDM2
34 fibrosarcoma of bone 10.1 CDK4 MDM2
35 malignant mesenchymoma 10.1 CDK4 MDM2
36 retinal cancer 10.0 CDK4 MDM2
37 brittle bone disorder 10.0 COL1A2 COL3A1
38 connective tissue cancer 10.0 CDK4 MDM2
39 intracranial aneurysm 10.0 COL1A2 COL3A1
40 cleft palate, isolated 10.0
41 glomuvenous malformations 10.0
42 intussusception 10.0
43 testicular torsion 10.0
44 alopecia 10.0
45 fibroma 10.0
46 inguinal hernia 10.0
47 diaphragmatic eventration 10.0
48 horner's syndrome 10.0
49 ossifying fibroma 10.0
50 cystic lymphangioma 10.0

Graphical network of the top 20 diseases related to Lipoblastoma:



Diseases related to Lipoblastoma

Symptoms & Phenotypes for Lipoblastoma

MGI Mouse Phenotypes related to Lipoblastoma:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10 CDK4 COL1A2 COL3A1 HAS2 LEP LEPR
2 growth/size/body region MP:0005378 9.97 CDK4 COL1A2 COL3A1 HAS2 LEP LEPR
3 embryo MP:0005380 9.88 CDK4 HAS2 LEP LEPR MDM2 PLAG1
4 homeostasis/metabolism MP:0005376 9.87 CDK4 COL1A2 COL3A1 HAS2 LEP LEPR
5 digestive/alimentary MP:0005381 9.83 CDK4 COL3A1 LEP LEPR MDM2
6 integument MP:0010771 9.73 CDK4 COL1A2 COL3A1 LEP LEPR MDM2
7 limbs/digits/tail MP:0005371 9.55 COL1A2 HAS2 LEP LEPR MDM2
8 liver/biliary system MP:0005370 9.35 CDK4 COL3A1 LEP LEPR MDM2
9 muscle MP:0005369 9.17 CDK4 COL1A2 COL3A1 HAS2 LEP LEPR

Drugs & Therapeutics for Lipoblastoma

Search Clinical Trials , NIH Clinical Center for Lipoblastoma

Genetic Tests for Lipoblastoma

Anatomical Context for Lipoblastoma

MalaCards organs/tissues related to Lipoblastoma:

42
Bone, Colon, Testes, Breast, Adipocyte, Kidney, Small Intestine

Publications for Lipoblastoma

Articles related to Lipoblastoma:

(show top 50) (show all 275)
# Title Authors Year
1
Chest wall lipoblastoma in a 3 year-old boy. ( 30723667 )
2019
2
Identification of a novel BOC-PLAG1 fusion gene in a case of lipoblastoma. ( 30857637 )
2019
3
Giant Intrahepatic Lipoblastoma in a Child. ( 30955788 )
2019
4
Lipoblastoma-like Tumor of the Vulva, an Important Benign Mimic of Myxoid Liposarcoma. ( 29300200 )
2019
5
Robotic resection of recurrent pediatric lipoblastoma. ( 29747240 )
2019
6
Myxoid Lipoblastoma and Mimickers on Fine-Needle Biopsy in a Child. ( 30322346 )
2019
7
Submucosal Colonic Lipoblastoma Presenting With Colo-colonic Intussusception in an Infant. ( 28420321 )
2018
8
Lipoblastoma of the scalp in a child. ( 30657811 )
2018
9
A Typical Case of Lipoblastoma on the Lower Limb of an Infant. ( 29195658 )
2018
10
Current management of lipoblastoma. ( 29243188 )
2018
11
Lipoblastoma: a clinicopathologic review of 23 cases from a major tertiary care center plus detailed review of literature. ( 29343278 )
2018
12
A Rare Primary Dumbbell Lipoblastoma. ( 29492129 )
2018
13
Large Parotid Gland Lipoblastoma in a Teenager. ( 29594083 )
2018
14
Submandibular lipoblastoma: Case report of a rare tumor in childhood. ( 29682479 )
2018
15
"Lipoblastoma" has a nice ring to it. ( 29897891 )
2018
16
Lipoblastoma-like tumor of the vulva: a clinicopathologic, immunohistochemical, fluorescence in situ hybridization and genomic copy number profiling study of seven cases. ( 29976943 )
2018
17
Mediastinal lipoblastoma: a rare entity discovered on physical exam. ( 30097551 )
2018
18
A large retroperitoneal lipoblastoma: A case report and literature review. ( 30290672 )
2018
19
A case report of Lipoblastoma: Presenting as a swelling in the nape of the neck of 14 years old girl. ( 30368126 )
2018
20
Mesenteric lipoblastoma presenting as a small intestinal volvulus in an infant: A case report and literature review. ( 28034384 )
2017
21
Lipoblastoma in children: Review of 12 cases. ( 28083971 )
2017
22
Varied Presentations of Pediatric Lipoblastoma: Case Series and Review of the Literature. ( 28111780 )
2017
23
Fine-needle aspiration of lipoblastoma: Cytological, molecular, and clinical features. ( 28902468 )
2017
24
A Case of Orbital Lipoblastoma: Temporal Evolution of Imaging Findings. ( 28991355 )
2017
25
Analysis of clinical features of lipoblastoma in children. ( 29035641 )
2017
26
A giant popliteal lipoblastoma in a 23-month-old girl: a case report. ( 29202860 )
2017
27
Intradermal Lipoblastoma-Like Tumor of the Lip in an Adult Woman. ( 26358498 )
2016
28
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
29
Lipoblastoma: an unusual tumour of the left ventricle. ( 26819289 )
2016
30
Lipoblastoma presenting as a rapidly growing paravertebral mass and masquerading as myxoid liposarcoma on fine needle aspiration cytology. ( 26919610 )
2016
31
Intrascrotal lipoblastoma: report of a case and the review of literature. ( 27059472 )
2016
32
Lipoblastomatosis of the retropharyngeal space: pathogenesis, presentation, and management, with a focus on head-neck lipoblastoma(toses). ( 27097392 )
2016
33
Lipoblastoma of the Labia: A Case Report. ( 27343432 )
2016
34
Spinal dumbbell lipoblastoma: a case-based update. ( 27444294 )
2016
35
Erratum to: Spinal dumbbell lipoblastoma: a case-based update. ( 27550430 )
2016
36
Lipoblastoma mimicking inguinal hernia. ( 25628996 )
2015
37
Huge Mediastinal Lipoblastoma in a Nine Year-old Boy Successfully Removed Surgically. ( 25800538 )
2015
38
Lipoblastoma-like tumor of the vulva: further characterization in 8 new cases. ( 25929353 )
2015
39
A rare cause of horner syndrome: pediatric lipoblastoma of the neck. ( 25974809 )
2015
40
Cervical lipoblastoma: An uncommon presentation. ( 26214680 )
2015
41
Surgical and Anesthetic Management of a Mediastinal Fatty Tumor: Lipoblastoma. ( 26522578 )
2015
42
Successful laparoscopic extirpation of a large omental lipoblastoma in a child. ( 26708589 )
2015
43
A Massive Intratumoral Aneurysmal Vessel in a Retroperitoneal Lipoblastoma. ( 26730109 )
2015
44
An unusual case of cervical lipoblastoma with review of literature. ( 26881589 )
2015
45
Lipoblastoma and lipoblastomatosis: A clinicopathological study of six cases. ( 26881660 )
2015
46
A case of unusual histology of infantile lipoblastoma confirmed by PLAG1 rearrangement. ( 26943407 )
2015
47
An isolated digital lipoblastoma. ( 23789709 )
2014
48
Lipoblastoma: an interesting differential of paediatric lipoma. ( 24164664 )
2014
49
Pediatric neck mass. Right deep cervical lipoblastoma. ( 24385017 )
2014
50
Diagnostic utility of molecular and cytogenetic analysis in lipoblastoma: a study of two cases and review of the literature. ( 24433523 )
2014

Variations for Lipoblastoma

Expression for Lipoblastoma

Search GEO for disease gene expression data for Lipoblastoma.

Pathways for Lipoblastoma

GO Terms for Lipoblastoma

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.71 CDK4 HAS2 LEP MDM2
2 positive regulation of cell cycle GO:0045787 9.54 CDK4 MDM2
3 cellular response to amino acid stimulus GO:0071230 9.52 COL1A2 COL3A1
4 collagen fibril organization GO:0030199 9.51 COL1A2 COL3A1
5 negative regulation of autophagy GO:0010507 9.49 LEP LEPR
6 T cell differentiation GO:0030217 9.48 LEP LEPR
7 adipose tissue development GO:0060612 9.46 CDK4 LEP
8 negative regulation of cell cycle arrest GO:0071157 9.43 CDK4 MDM2
9 energy reserve metabolic process GO:0006112 9.37 LEP LEPR
10 sexual reproduction GO:0019953 9.32 LEP LEPR
11 leptin-mediated signaling pathway GO:0033210 9.26 LEP LEPR
12 regulation of bone remodeling GO:0046850 9.16 LEP LEPR
13 blood vessel development GO:0001568 9.13 COL1A2 COL3A1 MDM2
14 bone growth GO:0098868 8.62 LEP LEPR

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

# Name GO ID Score Top Affiliating Genes
1 SMAD binding GO:0046332 9.16 COL1A2 COL3A1
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.96 COL1A2 COL3A1
3 platelet-derived growth factor binding GO:0048407 8.62 COL1A2 COL3A1

Sources for Lipoblastoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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