MCID: LPB001
MIFTS: 34

Lipoblastoma

Categories: Rare diseases

Aliases & Classifications for Lipoblastoma

MalaCards integrated aliases for Lipoblastoma:

Name: Lipoblastoma 20 58 70

Characteristics:

Orphanet epidemiological data:

58
lipoblastoma
Inheritance: Not applicable; Age of onset: Childhood;

Classifications:



External Ids:

UMLS via Orphanet 71 C1260965
Orphanet 58 ORPHA247762
UMLS 70 C1260965

Summaries for Lipoblastoma

MalaCards based summary : Lipoblastoma is related to pleomorphic lipoma and lipomatosis, multiple. An important gene associated with Lipoblastoma is PLAG1 (PLAG1 Zinc Finger), and among its related pathways/superpathways are AMP-activated Protein Kinase (AMPK) Signaling and Endothelins. Affiliated tissues include tongue, salivary gland and spinal cord, and related phenotypes are behavior/neurological and growth/size/body region

Wikipedia : 73 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 92)
# Related Disease Score Top Affiliating Genes
1 pleomorphic lipoma 30.6 MDM2 CDK4
2 lipomatosis, multiple 30.4 PLAG1 MDM2 CDK4
3 well-differentiated liposarcoma 30.0 PLAG1 MDM2 CDK4
4 spindle cell lipoma 29.7 MDM2 CDK4
5 cellular myxoid liposarcoma 29.7 MDM2 CDK4
6 ring chromosome 29.6 MDM2 CDK4
7 infiltrating lipoma 29.6 MDM2 CDK4
8 pelvic organ prolapse 29.3 COL3A1 COL1A2
9 liposarcoma 10.7
10 myxoid liposarcoma 10.5
11 rare tumor 10.4
12 mesenchymal cell neoplasm 10.2
13 pleomorphic adenoma 10.2
14 larsen-like syndrome 10.1 COL3A1 COL1A2
15 hemangioma 10.0
16 genetic obesity 10.0 LEPR LEP
17 hypothalamic obesity 10.0 LEPR LEP
18 syndromic obesity 10.0 LEPR LEP
19 ring chromosome 7 9.9 MDM2 CDK4
20 volvulus of midgut 9.9
21 fibroma 9.9
22 horner's syndrome 9.9
23 lymphangioma 9.9
24 cystic lymphangioma 9.9
25 embryoma 9.9
26 rare lymphatic malformation 9.9
27 rare soft tissue tumor 9.9
28 mediastinum liposarcoma 9.9 MDM2 CDK4
29 gastric liposarcoma 9.9 MDM2 CDK4
30 spindle cell liposarcoma 9.9 MDM2 CDK4
31 undifferentiated embryonal sarcoma of the liver 9.9 MDM2 CDK4
32 embryonal sarcoma 9.9 MDM2 CDK4
33 pediatric liposarcoma 9.9 MDM2 CDK4
34 diffuse lipomatosis 9.9 MDM2 CDK4
35 malignant inflammatory fibrous histiocytoma 9.9 MDM2 CDK4
36 liposarcoma of bone 9.9 MDM2 CDK4
37 pancreas sarcoma 9.9 MDM2 CDK4
38 paratesticular lipoma 9.9 MDM2 CDK4
39 lipoma of spermatic cord 9.9 MDM2 CDK4
40 adult liposarcoma 9.9 MDM2 CDK4
41 mixed liposarcoma 9.9 MDM2 CDK4
42 juxtacortical osteosarcoma 9.9 MDM2 CDK4
43 infiltrating angiolipoma 9.9 MDM2 CDK4
44 peripheral osteosarcoma 9.9 MDM2 CDK4
45 extraosseous osteosarcoma 9.9 MDM2 CDK4
46 retroperitoneal sarcoma 9.9 MDM2 CDK4
47 parameningeal embryonal rhabdomyosarcoma 9.9 MDM2 CDK4
48 hereditary melanoma 9.9 MDM2 CDK4
49 myositis ossificans 9.8 MDM2 CDK4
50 collagen disease 9.8 COL3A1 COL1A2

Graphical network of the top 20 diseases related to Lipoblastoma:



Diseases related to Lipoblastoma

Symptoms & Phenotypes for Lipoblastoma

MGI Mouse Phenotypes related to Lipoblastoma:

46 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.14 CDK4 COL1A2 HAS2 LEP LEPR MDM2
2 growth/size/body region MP:0005378 10.13 CDK4 COL1A2 COL3A1 HAS2 LEP LEPR
3 cardiovascular system MP:0005385 10.07 CDK4 COL1A2 COL3A1 HAS2 LEP LEPR
4 embryo MP:0005380 10.04 CDK4 HAS2 LEP LEPR MDM2 PLAG1
5 homeostasis/metabolism MP:0005376 10.03 CDK4 COL1A2 COL3A1 HAS2 LEP LEPR
6 hematopoietic system MP:0005397 10 CDK4 COL1A2 COL3A1 LEP LEPR MDM2
7 immune system MP:0005387 9.95 CDK4 COL1A2 COL3A1 LEP LEPR MDM2
8 digestive/alimentary MP:0005381 9.91 CDK4 COL3A1 LEP LEPR MDM2
9 integument MP:0010771 9.85 CDK4 COL1A2 COL3A1 LEP LEPR MDM2
10 limbs/digits/tail MP:0005371 9.8 COL1A2 HAS2 LEP LEPR MDM2 PLAG1
11 mortality/aging MP:0010768 9.76 CDK4 COL1A2 COL3A1 HAS2 LEP LEPR
12 liver/biliary system MP:0005370 9.65 CDK4 COL3A1 LEP LEPR MDM2
13 muscle MP:0005369 9.5 CDK4 COL1A2 COL3A1 HAS2 LEP LEPR
14 skeleton MP:0005390 9.17 CDK4 COL1A2 HAS2 LEP LEPR MDM2

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:

40
Tongue, Salivary Gland, Spinal Cord, Testes, Bone, Heart, Liver

Publications for Lipoblastoma

Articles related to Lipoblastoma:

(show top 50) (show all 421)
# Title Authors PMID Year
1
Lipoblastoma: computed tomographic and magnetic resonance imaging features correlate with tumor behavior and pathology. 61
33151344 2021
2
Pediatric fibromyxoid soft tissue tumor with PLAG1 fusion: A novel entity? 61
33300192 2021
3
Novel ZEB2-PLAG1 fusion gene identified by RNA sequencing in a case of lipoblastoma. 61
32918527 2021
4
Pediatric lipoblastoma with a novel EEF1A1-PLAG1 fusion. 61
33686712 2021
5
Lipoblastomas presenting in older children and adults: analysis of 22 cases with identification of novel PLAG1 fusion partners. 61
33097826 2021
6
Lipoblastomas and liposarcomas in paediatric patients: A case series. 61
33730887 2021
7
Dedifferentiated chondrsarcoma: a clinicopathologic analysis of 25 cases. 61
33588810 2021
8
Preoperative 3D reconstruction images for paediatric tumours: Advantages and drawbacks. 61
32827349 2021
9
Congenital tongue base lipoblastoma causing neonatal airway compromise. 61
33462056 2021
10
Lipoblastoma phenotype contains a somatic PIK3CA mutation. 61
33034408 2021
11
Case report: Infant with a Fast-growing Soft Tissue Tumor on the Thumb, Revealing a PLAG1-positive Connatal Lipoblastoma. 61
32937669 2020
12
A Cheek Mass in a 5-Year-Old Child. 61
32998514 2020
13
New molecular insights into the pathogenesis of lipoblastomas: clinicopathologic, immunohistochemical, and molecular analysis in pediatric cases. 61
32692992 2020
14
Pearls and Pitfalls in the Imaging of Soft-Tissue Masses in Children. 61
32980096 2020
15
Benign mesenteric lipomatous tumor in a child: a case report and literature review. 61
32997268 2020
16
[Clinical analysis of maxillofacial adipocytic neoplasia in children]. 61
32668879 2020
17
Lipoblastoma-like tumor of the spermatic cord: case report and review of the literature. 61
32617677 2020
18
Mediastinal lipoblastoma in paediatrics. 61
32730544 2020
19
Imaging of head and neck lipoblastoma: case report and systematic review. 61
32141045 2020
20
A lipoblastoma-like tumour of the paratesticular region - male counterpart of lipoblastoma-like tumour of the vulva. 61
31622502 2020
21
Follow-up outcomes of pediatric patients who underwent surgical resection for lipoblastomas or lipoblastomatosis: a single-institution experience with a systematic review and meta-analysis. 61
31938836 2020
22
Large Pediatric Abdomino-Groin Lipoblastoma: A Rare Case. 61
31896906 2020
23
A Rare Case of Giant Mesenteric Lipoblastoma in a 6-Year-Old Child and Review of the Literature. 61
32774976 2020
24
[Multivisceral resection of lipoblastoma of four anatomical areas of the head and neck with simultaneous neurotization of the facial muscles in an 8-months child. Clinical case]. 61
33034185 2020
25
Undifferentiated myxoid lipoblastoma with PLAG1 gene rearrangement in infant. 61
31796335 2020
26
A Giant Childhood Mesenteric Lipoblastoma With Extensive Maturation. 61
32793530 2020
27
Diagnostic importance of clinicopathologic features and p16, CD34, MDM2 expression in differential diagnosis of adipocytic tumors. 61
32175898 2020
28
Lipomatous Tumors in Pediatric Patients: A Retrospective Analysis of 50 cases. 61
31282548 2020
29
Intrascrotal lipoblastoma in adulthood. 61
31826903 2019
30
Posterior mediastinal lipoblastoma: A rare cause of acute respiratory compromise. 61
31196724 2019
31
[Myxoid lipoblastoma:a clinicopathological study of four cases]. 61
31288307 2019
32
Giant Intrahepatic Lipoblastoma in a Child. 61
30955788 2019
33
Atypical Presentation of Lipoblastoma of a 9-Month-Old. 61
31208223 2019
34
Fine needle aspiration cytology of paediatric soft tissue tumours highlighting challenges in diagnosis of benign lesions and unusual malignant tumours. 61
30848523 2019
35
Identification of a novel BOC-PLAG1 fusion gene in a case of lipoblastoma. 61
30857637 2019
36
Lipoblastoma of the left kidney: a case report and review of literature. 61
31157271 2019
37
Myxoid Lipoblastoma and Mimickers on Fine-Needle Biopsy in a Child. 61
30322346 2019
38
Adipocytic tumors in Children: A contemporary review. 61
30850231 2019
39
A contemporary review of myxoid adipocytic tumors. 61
30853315 2019
40
Lipoblastoma-like Tumor of the Vulva, an Important Benign Mimic of Myxoid Liposarcoma. 61
29300200 2019
41
Incidence and Mortality of Sarcomas in Shanghai, China, During 2002-2014. 61
31380289 2019
42
Lipoma of the Larynx and Other Differential Diagnoses. 61
31819828 2019
43
Three Novel Aberrations Involving PLAG1 Leading to Lipoblastoma in Three Different Patients: High Amplification, Partial Deletion, and a Unique Complex Rearrangement. 61
31614359 2019
44
Giant lipoblastoma of the buttock. 61
31448025 2019
45
Robotic resection of recurrent pediatric lipoblastoma. 61
29747240 2019
46
Chest wall lipoblastoma in a 3 year-old boy. 61
30723667 2019
47
Lipoblastoma of the scalp in a child. 61
30657811 2018
48
Lipoblastoma-like tumor of the vulva: a clinicopathologic, immunohistochemical, fluorescence in situ hybridization and genomic copy number profiling study of seven cases. 61
29976943 2018
49
A large retroperitoneal lipoblastoma: A case report and literature review. 61
30290672 2018
50
Mediastinal lipoblastoma: a rare entity discovered on physical exam. 61
30097551 2018

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 9.73 MDM2 LEP HAS2 CDK4
2 negative regulation of autophagy GO:0010507 9.54 LEPR LEP
3 collagen fibril organization GO:0030199 9.52 COL3A1 COL1A2
4 positive regulation of cell cycle GO:0045787 9.51 MDM2 CDK4
5 T cell differentiation GO:0030217 9.49 LEPR LEP
6 adipose tissue development GO:0060612 9.48 LEP CDK4
7 negative regulation of cell cycle arrest GO:0071157 9.46 MDM2 CDK4
8 energy reserve metabolic process GO:0006112 9.4 LEPR LEP
9 extracellular matrix assembly GO:0085029 9.37 HAS2 COL1A2
10 leptin-mediated signaling pathway GO:0033210 9.32 LEPR LEP
11 sexual reproduction GO:0019953 9.26 LEPR LEP
12 regulation of lipid biosynthetic process GO:0046890 9.16 LEP CDK4
13 bone growth GO:0098868 8.96 LEPR LEP
14 regulation of bone remodeling GO:0046850 8.62 LEPR LEP

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

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

Sources for Lipoblastoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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