Aliases & Classifications for Lipoblastoma

MalaCards integrated aliases for Lipoblastoma:

Name: Lipoblastoma 50 56 69

Characteristics:

Orphanet epidemiological data:

56
lipoblastoma
Inheritance: Not applicable; Age of onset: Childhood;

Classifications:



External Ids:

Orphanet 56 ORPHA247762
UMLS via Orphanet 70 C1260965

Summaries for Lipoblastoma

MalaCards based summary : Lipoblastoma is related to deafness, autosomal recessive 91 and rnase t2-deficient leukoencephalopathy. 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 breast, testes and bone, and related phenotypes are cardiovascular system and growth/size/body region

Wikipedia : 72 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 58)
id Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 91 10.4 COL1A2 COL3A1
2 rnase t2-deficient leukoencephalopathy 10.4 CDK4 MDM2
3 primary pulmonary lymphoma 10.3 CDK4 MDM2
4 epidural neoplasm 10.3 CDK4 MDM2
5 reactive arthritis 10.3 CDK4 MDM2
6 skin lipoma 10.3 CDK4 MDM2
7 coronary aneurysm 10.3 CDK4 MDM2
8 metachronous osteosarcoma of the bone 10.3 CDK4 MDM2
9 median neuropathy 10.3 CDK4 MDM2
10 localized osteosarcoma 10.3 CDK4 MDM2
11 juxtacortical chondrosarcoma 10.3 CDK4 MDM2
12 neurofibroma of the esophagus 10.3 CDK4 MDM2
13 breast epithelioid hemangioma 10.3 CDK4 MDM2
14 cholelithiasis 10.3 CDK4 MDM2
15 cutaneous liposarcoma 10.3 CDK4 MDM2
16 secondary pulmonary hemosiderosis 10.3 CDK4 MDM2
17 ascaridiasis 10.3 CDK4 MDM2
18 muscle hypertrophy 10.3 COL1A2 COL3A1
19 mucinous intrahepatic cholangiocarcinoma 10.3 CDK4 MDM2
20 kidney lipoma 10.3 CDK4 MDM2
21 small cell osteogenic sarcoma 10.3 CDK4 MDM2
22 enamel hypoplasia cataract hydrocephaly 10.2 CDK4 MDM2
23 conventional central osteosarcoma 10.2 CDK4 MDM2
24 extraosseous osteosarcoma 10.2 CDK4 MDM2
25 sulfite oxidase deficiency 10.2 COL1A2 COL3A1
26 lung clear cell-sugar-tumor 10.2 CDK4 MDM2
27 mediastinitis 10.2
28 unilateral retinoblastoma 10.2 CDK4 MDM2
29 cervicitis 10.2
30 pharynx cancer 10.2 CDK4 MDM2
31 cystic lymphangioma 10.2 CDK4 MDM2
32 chronic fatigue syndrome 10.1 COL1A2 COL3A1
33 gestational choriocarcinoma 10.1 CDK4 MDM2
34 liposarcoma 10.1
35 rhabdomyosarcoma 2, alveolar 10.0 CDK4 MDM2
36 adult liposarcoma 10.0 CDK4 MDM2 PLAG1
37 sarcosinemia 10.0 CDK4 MDM2 PLAG1
38 strongyloidiasis 10.0 COL1A2 COL3A1
39 myxoid liposarcoma 10.0
40 vitamin d-dependent rickets, type i 9.9 CDK4 MDM2
41 exophthalmic ophthalmoplegia 9.9 LEP LEPR
42 spindle cell sarcoma 9.9 CDK4 MDM2
43 hemangioma 9.8
44 atypical lipomatous tumor 9.8
45 sclerocornea 9.8 COL1A2 LEP
46 glomuvenous malformations 9.7
47 alopecia 9.7
48 hepatitis 9.7
49 fibroma 9.7
50 inguinal hernia 9.7

Graphical network of the top 20 diseases related to Lipoblastoma:



Diseases related to Lipoblastoma

Symptoms & Phenotypes for Lipoblastoma

MGI Mouse Phenotypes related to Lipoblastoma:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.98 CDK4 COL1A2 COL3A1 HAS2 LEP LEPR
2 growth/size/body region MP:0005378 9.92 CDK4 COL1A2 COL3A1 HAS2 LEP LEPR
3 embryo MP:0005380 9.85 CDK4 HAS2 LEP LEPR MDM2 PLAG1
4 digestive/alimentary MP:0005381 9.8 CDK4 COL3A1 LEP LEPR MDM2
5 integument MP:0010771 9.73 CDK4 COL1A2 COL3A1 LEP LEPR MDM2
6 limbs/digits/tail MP:0005371 9.55 COL1A2 HAS2 LEP LEPR MDM2
7 liver/biliary system MP:0005370 9.35 CDK4 COL3A1 LEP LEPR MDM2
8 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:

39
Breast, Testes, Bone, Adipocyte, Colon, Small Intestine, Skin

Publications for Lipoblastoma

Articles related to Lipoblastoma:

(show top 50) (show all 253)
id Title Authors Year
1
Submucosal Colonic Lipoblastoma Presenting With Colo-colonic Intussusception in an Infant. ( 28420321 )
2017
2
Fine-needle aspiration of lipoblastoma: Cytological, molecular, and clinical features. ( 28902468 )
2017
3
Mesenteric lipoblastoma presenting as a small intestinal volvulus in an infant: A case report and literature review. ( 28034384 )
2017
4
Lipoblastoma in children: A review of 12 cases. ( 28083971 )
2017
5
Varied Presentations of Pediatric Lipoblastoma: Case Series and Review of the Literature. ( 28111780 )
2017
6
Lipoblastomatosis of the retropharyngeal space: pathogenesis, presentation, and management, with a focus on head-neck lipoblastoma(toses). ( 27097392 )
2016
7
Lipoblastoma of the Labia: A Case Report. ( 27343432 )
2016
8
Spinal dumbbell lipoblastoma: a case-based update. ( 27444294 )
2016
9
Lipoblastoma: an unusual tumour of the left ventricle. ( 26819289 )
2016
10
Lipoblastoma presenting as a rapidly growing paravertebral mass and masquerading as myxoid liposarcoma on fine needle aspiration cytology. ( 26919610 )
2016
11
Intrascrotal lipoblastoma: report of a case and the review of literature. ( 27059472 )
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
Case report of a forearm lipoblastoma. ( 27773114 )
2016
14
Immunohistochemical expression of p16 in lipoblastomas. ( 26514741 )
2016
15
A case of unusual histology of infantile lipoblastoma confirmed by PLAG1 rearrangement. ( 26943407 )
2015
16
A Massive Intratumoral Aneurysmal Vessel in a Retroperitoneal Lipoblastoma. ( 26730109 )
2015
17
Successful laparoscopic extirpation of a large omental lipoblastoma in a child. ( 26708589 )
2015
18
Intradermal Lipoblastoma-Like Tumor of the Lip in an Adult Woman. ( 26358498 )
2015
19
Huge Mediastinal Lipoblastoma in a Nine Year-old Boy Successfully Removed Surgically. ( 25800538 )
2015
20
Lipoblastoma mimicking inguinal hernia. ( 25628996 )
2015
21
A rare cause of horner syndrome: pediatric lipoblastoma of the neck. ( 25974809 )
2015
22
An unusual case of cervical lipoblastoma with review of literature. ( 26881589 )
2015
23
Cervical lipoblastoma: An uncommon presentation. ( 26214680 )
2015
24
Surgical and Anesthetic Management of a Mediastinal Fatty Tumor: Lipoblastoma. ( 26522578 )
2015
25
Lipoblastoma and lipoblastomatosis: A clinicopathological study of six cases. ( 26881660 )
2015
26
Lipoblastoma-like tumor of the vulva: further characterization in 8 new cases. ( 25929353 )
2015
27
Aspiration cytology diagnosis of lipoblastoma of the back. ( 25057474 )
2014
28
Giant gluteal lipoblastoma associated with hepatic haemangioma and bilateral nephromegaly. ( 24849628 )
2014
29
Pediatric neck mass. Right deep cervical lipoblastoma. ( 24385017 )
2014
30
A giant omental Lipoblastoma in a four-year-old boy. ( 24955971 )
2014
31
Mesenteric lipoblastoma and cervical lipoblastomatosis: ultrasound, elastosonography, and computed tomography findings in two children. ( 24795830 )
2014
32
Lipoblastoma and lipoblastomatosis of the lower leg. ( 25302126 )
2014
33
Lipoblastoma in childhood: about 10 cases. ( 24647290 )
2014
34
Primary spinal extradural lipoblastoma: Rare occurrence. ( 25624950 )
2014
35
An isolated digital lipoblastoma. ( 23789709 )
2014
36
Identification of COL3A1 and RAB2A as novel translocation partner genes of PLAG1 in lipoblastoma. ( 24700772 )
2014
37
Recurrent lipoblastoma of upper extremity in a 9-year-old boy. ( 24713710 )
2014
38
Perineal lipoblastoma: a case report and review of literature. ( 25031762 )
2014
39
Lipoblastoma of the hand and cleft palate: is there a genetic association? ( 24621768 )
2014
40
Diagnostic utility of molecular and cytogenetic analysis in lipoblastoma: a study of two cases and review of the literature. ( 24433523 )
2013
41
Pediatric lipoblastoma of the neck. ( 24163863 )
2013
42
A rare case of inguinolabial lipoblastoma in a 13-month-old female. ( 23103129 )
2013
43
Desmin-positivity in spindle cells: under-recognized immunophenotype of lipoblastoma. ( 23865573 )
2013
44
Lipoblastoma in an 8-year-old child: an atypical presentation of a rare tumor. ( 23760339 )
2013
45
Intrascrotal lipoblastoma in a ten year old: case report and review of literature. ( 23772297 )
2013
46
Intrascrotal lipoblastoma: a report of two cases and a review of the literature. ( 23664430 )
2013
47
Suprascapular lipoblastoma extending in to the thorax. ( 24040598 )
2013
48
Mediastinal lipoblastoma: unexpected finding of a chest infection. ( 23737588 )
2013
49
A novel PLAG1-RAD51L1 gene fusion resulting from a t(8;14)(q12;q24) in a case of lipoblastoma. ( 23890983 )
2013
50
Giant omental lipoblastoma and CD56 expression. ( 23519855 )
2013

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)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.71 CDK4 HAS2 LEP MDM2
2 cellular response to amino acid stimulus GO:0071230 9.54 COL1A2 COL3A1
3 collagen fibril organization GO:0030199 9.52 COL1A2 COL3A1
4 positive regulation of cell cycle GO:0045787 9.51 CDK4 MDM2
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:

id Name GO ID Score Top Affiliating Genes
1 SMAD binding GO:0046332 8.96 COL1A2 COL3A1
2 platelet-derived growth factor binding GO:0048407 8.62 COL1A2 COL3A1

Sources for Lipoblastoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....