MCID: LPB001
MIFTS: 34

Lipoblastoma

Categories: Rare diseases

Aliases & Classifications for Lipoblastoma

MalaCards integrated aliases for Lipoblastoma:

Name: Lipoblastoma 52 58 71

Characteristics:

Orphanet epidemiological data:

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

Classifications:



External Ids:

UMLS via Orphanet 72 C1260965
Orphanet 58 ORPHA247762
UMLS 71 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 bone, adipocyte and pancreas, and related phenotypes are behavior/neurological and cardiovascular system

Wikipedia : 74 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 95)
# Related Disease Score Top Affiliating Genes
1 pleomorphic lipoma 30.7 MDM2 CDK4
2 lipomatosis, multiple 30.4 PLAG1 MDM2 CDK4
3 myxoid liposarcoma 30.4 PLAG1 MDM2 CDK4
4 well-differentiated liposarcoma 30.1 PLAG1 MDM2 CDK4
5 spindle cell lipoma 29.9 PLAG1 MDM2
6 cellular myxoid liposarcoma 29.8 MDM2 CDK4
7 ring chromosome 29.8 MDM2 CDK4
8 infiltrating lipoma 29.7 MDM2 CDK4
9 familial retinoblastoma 29.5 MDM2 CDK4
10 pelvic organ prolapse 29.4 COL3A1 COL1A2
11 liposarcoma 10.8
12 rare tumor 10.6
13 mesenchymal cell neoplasm 10.4
14 pleomorphic adenoma 10.3
15 hemangioma 10.2
16 47,xyy 10.2
17 larsen-like syndrome 10.2 COL3A1 COL1A2
18 intussusception 10.1
19 volvulus of midgut 10.1
20 fibroma 10.1
21 inguinal hernia 10.1
22 lymphangioma 10.1
23 cystic lymphangioma 10.1
24 embryoma 10.1
25 adenoma 10.1
26 rare lymphatic malformation 10.1
27 ehlers-danlos syndrome, classic type, 1 10.1 COL3A1 COL1A2
28 cleft palate, isolated 10.0
29 glomuvenous malformations 10.0
30 keloid formation 10.0
31 leiomyoma, uterine 10.0
32 macrodactyly 10.0
33 proteus syndrome 10.0
34 retinoblastoma 10.0
35 strabismus 10.0
36 sturge-weber syndrome 10.0
37 testicular torsion 10.0
38 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.0
39 alopecia, congenital 10.0
40 hydrops, lactic acidosis, and sideroblastic anemia 10.0
41 myelomeningocele 10.0
42 classic type lipoma 10.0
43 diaphragmatic eventration 10.0
44 respiratory failure 10.0
45 horner's syndrome 10.0
46 leiomyoma 10.0
47 ossifying fibroma 10.0
48 constipation 10.0
49 lipomatosis 10.0
50 myofibroma 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:

45 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.05 CDK4 COL1A2 HAS2 LEP LEPR MDM2
2 cardiovascular system MP:0005385 10.04 CDK4 COL1A2 COL3A1 HAS2 LEP LEPR
3 growth/size/body region MP:0005378 10.03 CDK4 COL1A2 COL3A1 HAS2 LEP LEPR
4 homeostasis/metabolism MP:0005376 10.01 CDK4 COL1A2 COL3A1 HAS2 LEP LEPR
5 embryo MP:0005380 9.93 CDK4 HAS2 LEP LEPR MDM2 PLAG1
6 digestive/alimentary MP:0005381 9.88 CDK4 COL3A1 LEP LEPR MDM2
7 integument MP:0010771 9.85 CDK4 COL1A2 COL3A1 LEP LEPR MDM2
8 mortality/aging MP:0010768 9.76 CDK4 COL1A2 COL3A1 HAS2 LEP LEPR
9 limbs/digits/tail MP:0005371 9.72 COL1A2 HAS2 LEP LEPR MDM2
10 liver/biliary system MP:0005370 9.65 CDK4 COL3A1 LEP LEPR MDM2
11 muscle MP:0005369 9.5 CDK4 COL1A2 COL3A1 HAS2 LEP LEPR
12 skeleton MP:0005390 9.1 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
Bone, Adipocyte, Pancreas, Kidney, Colon, Salivary Gland, Breast

Publications for Lipoblastoma

Articles related to Lipoblastoma:

(show top 50) (show all 396)
# Title Authors PMID Year
1
Lipomatous Tumors in Pediatric Patients: A Retrospective Analysis of 50 cases. 61
31282548 2020
2
Undifferentiated myxoid lipoblastoma with PLAG1 gene rearrangement in infant. 61
31796335 2020
3
Large Pediatric Abdomino-Groin Lipoblastoma: A Rare Case. 61
31896906 2020
4
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
5
Intrascrotal lipoblastoma in adulthood. 61
31826903 2019
6
Posterior mediastinal lipoblastoma: A rare cause of acute respiratory compromise. 61
31196724 2019
7
A lipoblastoma-like tumour of the paratesticular region - male counterpart of lipoblastoma-like tumour of the vulva. 61
31622502 2019
8
[Myxoid lipoblastoma:a clinicopathological study of four cases]. 61
31288307 2019
9
Giant Intrahepatic Lipoblastoma in a Child. 61
30955788 2019
10
Atypical Presentation of Lipoblastoma of a 9-Month-Old. 61
31208223 2019
11
Fine needle aspiration cytology of paediatric soft tissue tumours highlighting challenges in diagnosis of benign lesions and unusual malignant tumours. 61
30848523 2019
12
Identification of a novel BOC-PLAG1 fusion gene in a case of lipoblastoma. 61
30857637 2019
13
Lipoblastoma of the left kidney: a case report and review of literature. 61
31157271 2019
14
Myxoid Lipoblastoma and Mimickers on Fine-Needle Biopsy in a Child. 61
30322346 2019
15
Adipocytic tumors in Children: A contemporary review. 61
30850231 2019
16
A contemporary review of myxoid adipocytic tumors. 61
30853315 2019
17
Lipoblastoma-like Tumor of the Vulva, an Important Benign Mimic of Myxoid Liposarcoma. 61
29300200 2019
18
Incidence and Mortality of Sarcomas in Shanghai, China, During 2002-2014. 61
31380289 2019
19
Lipoma of the Larynx and Other Differential Diagnoses. 61
31819828 2019
20
Chest wall lipoblastoma in a 3 year-old boy. 61
30723667 2019
21
Giant lipoblastoma of the buttock. 61
31448025 2019
22
Robotic resection of recurrent pediatric lipoblastoma. 61
29747240 2019
23
Three Novel Aberrations Involving PLAG1 Leading to Lipoblastoma in Three Different Patients: High Amplification, Partial Deletion, and a Unique Complex Rearrangement. 61
31614359 2019
24
Lipoblastoma of the scalp in a child. 61
30657811 2018
25
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
26
A large retroperitoneal lipoblastoma: A case report and literature review. 61
30290672 2018
27
Mediastinal lipoblastoma: a rare entity discovered on physical exam. 61
30097551 2018
28
Submucosal Colonic Lipoblastoma Presenting With Colo-colonic Intussusception in an Infant. 61
28420321 2018
29
Rare retro peritoneal tumor in infants. 61
30430470 2018
30
A Typical Case of Lipoblastoma on the Lower Limb of an Infant. 61
29195658 2018
31
Submandibular lipoblastoma: Case report of a rare tumor in childhood. 61
29682479 2018
32
[Giant retroperitoneal lipoblastoma. Case report]. 61
29333840 2018
33
Current management of lipoblastoma. 61
29243188 2018
34
"Lipoblastoma" has a nice ring to it. 61
29897891 2018
35
Large Parotid Gland Lipoblastoma in a Teenager. 61
29594083 2018
36
A Rare Primary Dumbbell Lipoblastoma. 61
29492129 2018
37
A case report of Lipoblastoma: Presenting as a swelling in the nape of the neck of 14 years old girl. 61
30368126 2018
38
Lipoblastoma: a clinicopathologic review of 23 cases from a major tertiary care center plus detailed review of literature. 61
29343278 2018
39
A giant popliteal lipoblastoma in a 23-month-old girl: a case report. 61
29202860 2017
40
Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder. 61
28867506 2017
41
Fine-needle aspiration of lipoblastoma: Cytological, molecular, and clinical features. 61
28902468 2017
42
A Case of Orbital Lipoblastoma: Temporal Evolution of Imaging Findings. 61
28991355 2017
43
Microcystic Lymphatic Malformation Successfully Treated With Topical Rapamycin. 61
28557723 2017
44
Analysis of clinical features of lipoblastoma in children. 61
29035641 2017
45
Lipoblastoma in children: Review of 12 cases. 61
28083971 2017
46
Varied Presentations of Pediatric Lipoblastoma: Case Series and Review of the Literature. 61
28111780 2017
47
Mesenteric lipoblastoma presenting as a small intestinal volvulus in an infant: A case report and literature review. 61
28034384 2017
48
Imaging review of lipomatous musculoskeletal lesions. 61
28474576 2017
49
[Lipoblastoma detected in older children: an unusual case and literature review]. 61
29515737 2017
50
Intrascrotal lipoblastoma: report of a case and the review of literature. 61
27059472 2016

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 15)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.76 MDM2 LEP HAS2 CDK4
2 negative regulation of autophagy GO:0010507 9.55 LEPR LEP
3 collagen fibril organization GO:0030199 9.54 COL3A1 COL1A2
4 T cell differentiation GO:0030217 9.52 LEPR LEP
5 positive regulation of cell cycle GO:0045787 9.51 MDM2 CDK4
6 adipose tissue development GO:0060612 9.49 LEP CDK4
7 negative regulation of cell cycle arrest GO:0071157 9.48 MDM2 CDK4
8 energy reserve metabolic process GO:0006112 9.43 LEPR LEP
9 sexual reproduction GO:0019953 9.4 LEPR LEP
10 extracellular matrix assembly GO:0085029 9.37 HAS2 COL1A2
11 leptin-mediated signaling pathway GO:0033210 9.32 LEPR LEP
12 regulation of lipid biosynthetic process GO:0046890 9.26 LEP CDK4
13 regulation of bone remodeling GO:0046850 9.16 LEPR LEP
14 bone growth GO:0098868 8.96 LEPR LEP
15 blood vessel development GO:0001568 8.8 MDM2 COL3A1 COL1A2

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 COL3A1 COL1A2
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.96 COL3A1 COL1A2
3 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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