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MCID: LMB003
MIFTS: 28

Lumbosacral Lipoma

Categories: Bone diseases, Cancer diseases
Genes Tissues Related diseases Publications Pathways
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Aliases & Classifications for Lumbosacral Lipoma

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MalaCards integrated aliases for Lumbosacral Lipoma:

Name: Lumbosacral Lipoma 12 15 70

Classifications:

MalaCards categories:
Global: Cancer diseases
Anatomical: Bone diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:7017
NCIt 50 C6500
UMLS 70 C1334438
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Summaries for Lumbosacral Lipoma

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MalaCards based summary : Lumbosacral Lipoma is related to lipomatosis, multiple and pleomorphic lipoma. An important gene associated with Lumbosacral Lipoma is EPOR (Erythropoietin Receptor), and among its related pathways/superpathways are TGF-Beta Pathway and Th17 cell differentiation. Affiliated tissues include spinal cord, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

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Related Diseases for Lumbosacral Lipoma

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

(show top 50) (show all 92)
# Related Disease Score Top Affiliating Genes
1 lipomatosis, multiple 10.7
2 pleomorphic lipoma 10.7
3 neural tube defects 10.2
4 lipomyelomeningocele 10.2
5 scoliosis 10.2
6 progressive myoclonus epilepsy 9 10.1 EPOR EPO
7 anemia of prematurity 10.1 EPOR EPO
8 acquired polycythemia 10.1 EPOR EPO
9 acute erythroid leukemia 10.1 EPOR EPO
10 rh isoimmunization 10.1 G6PD EPO
11 neonatal anemia 10.1 EPOR EPO
12 erythrocytosis, familial, 1 10.1 EPOR EPO
13 vulvar vestibulitis syndrome 10.1 IL1R1 IL1B
14 indolent plasma cell myeloma 10.1 IL1R1 IL1B
15 silo filler's disease 10.1 IL1R1 IL1B
16 syringomyelia, noncommunicating isolated 10.1
17 spina bifida occulta 10.1
18 benign teratoma 10.1
19 tethered spinal cord syndrome 10.1
20 cystic teratoma 10.1
21 syringomyelia 10.1
22 mature teratoma 10.1
23 plasmodium vivax malaria 10.1 IL1B G6PD
24 iron metabolism disease 10.1 G6PD EPO
25 wells syndrome 10.1 IL1R1 IL1B
26 schnitzler syndrome 10.1 IL1R1 IL1B
27 paratyphoid fever 10.1 IL1R1 IL1B
28 typhoid fever 10.1 IL1R1 IL1B
29 neonatal jaundice 10.1 IL1B G6PD
30 traumatic brain injury 10.0 IL1B EPO
31 brain injury 10.0 IL1B EPO
32 pulmonary valve disease 10.0 TBX5 LEFTY2
33 occlusion precerebral artery 10.0 IL1B EPO
34 adult-onset still's disease 10.0 IL1R1 IL1B
35 encephalomalacia 10.0 IL1B EPO
36 periventricular leukomalacia 10.0 IL1R1 EPO
37 poems syndrome 10.0 IL1B EPO
38 pulmonary valve stenosis 10.0 TBX5 LEFTY2
39 cinca syndrome 10.0 IL1R1 IL1B
40 right atrial isomerism 10.0 TBX5 LEFTY2
41 aseptic meningitis 10.0 IL1R1 IL1B
42 pyoderma 10.0 IL1R1 IL1B
43 familial cold autoinflammatory syndrome 10.0 IL1R1 IL1B
44 q fever 10.0 IL1R1 IL1B
45 common cold 9.9 IL1R1 IL1B
46 beta-thalassemia 9.9 G6PD EPOR EPO
47 macrodactyly 9.9
48 chiari malformation type ii 9.9
49 hereditary sensory neuropathy 9.9
50 myelomeningocele 9.9

Graphical network of the top 20 diseases related to Lumbosacral Lipoma:



Diseases related to Lumbosacral Lipoma
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Symptoms & Phenotypes for Lumbosacral Lipoma

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GenomeRNAi Phenotypes related to Lumbosacral Lipoma according to GeneCards Suite gene sharing:

26 (show all 27)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 10 HIF1A IL1B
2 Increased shRNA abundance (Z-score > 2) GR00366-A-102 10 IL1B
3 Increased shRNA abundance (Z-score > 2) GR00366-A-107 10 TBX5
4 Increased shRNA abundance (Z-score > 2) GR00366-A-124 10 IL1R1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-14 10 IL1B
6 Increased shRNA abundance (Z-score > 2) GR00366-A-145 10 HIF1A
7 Increased shRNA abundance (Z-score > 2) GR00366-A-161 10 HIF1A
8 Increased shRNA abundance (Z-score > 2) GR00366-A-170 10 IL1B
9 Increased shRNA abundance (Z-score > 2) GR00366-A-174 10 HIF1A
10 Increased shRNA abundance (Z-score > 2) GR00366-A-181 10 IL1B
11 Increased shRNA abundance (Z-score > 2) GR00366-A-182 10 HIF1A
12 Increased shRNA abundance (Z-score > 2) GR00366-A-183 10 IL1R1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-185 10 HIF1A
14 Increased shRNA abundance (Z-score > 2) GR00366-A-199 10 HIF1A IL1B
15 Increased shRNA abundance (Z-score > 2) GR00366-A-204 10 HIF1A
16 Increased shRNA abundance (Z-score > 2) GR00366-A-50 10 IL1B
17 Increased shRNA abundance (Z-score > 2) GR00366-A-51 10 IL1B
18 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10 HIF1A
19 Increased shRNA abundance (Z-score > 2) GR00366-A-67 10 TBX5
20 Increased shRNA abundance (Z-score > 2) GR00366-A-69 10 TBX5
21 Increased shRNA abundance (Z-score > 2) GR00366-A-77 10 HIF1A
22 Increased shRNA abundance (Z-score > 2) GR00366-A-79 10 IL1B
23 Increased shRNA abundance (Z-score > 2) GR00366-A-81 10 IL1B
24 Increased shRNA abundance (Z-score > 2) GR00366-A-9 10 IL1R1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-98 10 TBX5
26 Increased shRNA abundance (Z-score > 2) GR00366-A-99 10 IL1R1
27 Increased shRNA abundance GR00327-A 9.13 EPO G6PD HIF1A

MGI Mouse Phenotypes related to Lumbosacral Lipoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.01 EPO EPOR G6PD HIF1A IL1B IL1R1
2 growth/size/body region MP:0005378 9.87 EPOR G6PD HIF1A IL1B IL1R1 LEFTY2
3 embryo MP:0005380 9.85 EPO EPOR G6PD HIF1A LEFTY2 TBX5
4 hematopoietic system MP:0005397 9.8 EPO EPOR G6PD HIF1A IL1B IL1R1
5 mortality/aging MP:0010768 9.56 EPO EPOR G6PD HIF1A IL1B IL1R1
6 liver/biliary system MP:0005370 9.55 EPO EPOR HIF1A IL1R1 LEFTY2
7 respiratory system MP:0005388 9.02 EPO EPOR HIF1A IL1R1 LEFTY2
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Drugs & Therapeutics for Lumbosacral Lipoma

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Search Clinical Trials , NIH Clinical Center for Lumbosacral Lipoma

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Genetic Tests for Lumbosacral Lipoma

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Anatomical Context for Lumbosacral Lipoma

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MalaCards organs/tissues related to Lumbosacral Lipoma:

40
Spinal Cord
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Publications for Lumbosacral Lipoma

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Articles related to Lumbosacral Lipoma:

(show top 50) (show all 79)
# Title Authors PMID Year
1
Does conus morphology have implications for outcome in lumbosacral lipoma? 61
33604718 2021
2
Rapid deterioration of an asymptomatic lumbosacral lipoma due to formation of an extracanalicular syrinx: case report. 61
33361476 2020
3
A suggestion to the article "Whole spine MRI is not required in investigating uncomplicated paediatric lumbosacral lipoma: A retrospective single-institution review": extended lumbosacral spine MRI. 61
31624861 2020
4
Letter of response re "Whole spine MRI is not required in investigating uncomplicated paediatric lumbosacral lipoma. A retrospective single-institution review" by Horsfall et al. 61
31732780 2020
5
Whole spine MRI is not required in investigating uncomplicated paediatric lumbosacral lipoma. A retrospective single-institution review. 61
31502036 2019
6
Radical excision of lumbosacral lipoma: an early experience of "followers". 61
31152216 2019
7
Predictive value of intraoperative bulbocavernosus reflex during untethering surgery for post-operative voiding function. 61
30448714 2018
8
Conservative and surgical treatment of pediatric asymptomatic lumbosacral lipoma: a meta-analysis. 61
27796602 2018
9
Surgical Outcomes of Pediatric Patients with Asymptomatic Tethered Cord Syndrome. 61
29879784 2018
10
Spinal column shortening for tethered cord syndrome associated with myelomeningocele, lumbosacral lipoma, and lipomyelomeningocele in children and young adults. 61
28362188 2017
11
Noncontiguous Double Spinal Lipoma with Tethered Cord and Polydactyly: Two Different Embryological Events in One Patient. 61
28553379 2017
12
Surgical Outcome of Children and Adolescents with Tethered Cord Syndrome. 61
27790325 2016
13
[Lumbosacral lipoma with macrodactyly deformities: report of a case]. 61
27646902 2016
14
The natural history and management of patients with congenital deficits associated with lumbosacral lipomas. 61
26753902 2016
15
Development of intraspinal ectopic endometrial tissue in connection with tethered cord syndrome. 61
25447661 2014
16
Usefulness of three-dimensional T1-weighted spoiled gradient-recalled echo and three-dimensional heavily T2-weighted images in preoperative evaluation of spinal dysraphism. 61
23673721 2013
17
Alteration in radiological subtype of spinal lipoma: case report. 61
23636146 2013
18
An infantile large and extensive intramedullary mature spinal teratoma. 61
21613770 2011
19
Hydromyelia associated with spinal lipoma of the conus: case report. 61
20802384 2010
20
[Surgery for lumbosacral lipoma: usefulness of 3D heavily T2 weighted MR image]. 61
20166524 2010
21
Double lumbosacral lipomas of the dorsal and filar types associated with OEIS complex: case report. 61
19855150 2009
22
Neurological outcome after surgical management of adult tethered cord syndrome. 61
19769511 2009
23
Incidence of symptomatic retethering after surgical management of pediatric tethered cord syndrome with or without duraplasty. 61
19418057 2009
24
Spinal congenital dermal sinus with dual ostia. 61
19409020 2009
25
Coexistence of a human tail and congenital dermal sinus associated with lumbosacral lipoma. 61
18690460 2009
26
Tight filum terminale syndrome in children: analysis based on positioning of the conus and absence or presence of lumbosacral lipoma. 61
17551741 2007
27
Dynamic morphological changes in lumbosacral lipoma during the first months of life revealed by constructive interference in steady-state (CISS) MR imaging. 61
17187271 2007
28
Unusual MR presentation of occult spinal dysraphism with lumbosacral lipoma and dermoid cyst. 61
16937140 2007
29
Tethered spinal cord with double spinal lipomas. 61
17179703 2006
30
Epilepsy in patients with spina bifida in the lumbosacral region. 61
16933125 2006
31
Prognostic factors affecting urologic outcome after untethering surgery for lumbosacral lipoma. 61
16586137 2006
32
Usefulness of constructive interference in steady-state magnetic resonance imaging in the presurgical examination for lumbosacral lipoma. 61
16383253 2005
33
Teratoma in human tail lipoma. 61
15995336 2005
34
The outcome of detrusor myotomy in children with neurogenic bladder dysfunction. 61
15118444 2004
35
Spinal lipoma associated with terminal syringohydromyelia and a spinal arachnoid cyst in a patient with cloacal exstrophy. 61
12715194 2003
36
Callosal anomalies in patients with spinal dysraphism: correlation of clinical and neuroimaging features with hemispheric abnormalities. 61
12117315 2002
37
Congenital lumbosacral lipomas: pitfalls in analysing the results of prophylactic surgery. 61
12172940 2002
38
Antenatal diagnosis of spinal lipomas. 61
11862434 2001
39
Cerebral abnormalities in lumbosacral neural tube closure defect: MR imaging evaluation. 61
11465794 2001
40
Pathogenesis of lumbosacral lipoma: a test of the "premature dysjunction" theory. 61
11359100 2001
41
The patterns of late deterioration in patients with transitional lipomyelomeningocele. 61
11214824 2000
42
F wave monitoring during surgery for adult tethered cord syndrome--a case report. 61
11125692 2000
43
Results after surgery for lumbosacral lipoma: the significance of early and late worsening. 61
10502000 1999
44
[Neuromuscular choristoma]. 61
10463034 1999
45
[Intraoperative electrophysiological monitoring for functional preservation of the cauda equina during lumbosacral surgery]. 61
10347845 1999
46
Spontaneous shrinkage of lumbosacral lipoma in conjunction with a general decrease in body fat: case report. 61
9657202 1998
47
Closed spinal dysraphism: a review on diagnosis and treatment in infancy. 61
10726589 1998
48
Occult spinal dysraphism. 61
11129883 1997
49
[A case of lumbosacral lipoma-associated adult onset tethered cord syndrome with initial symptoms of sensory disturbance and intractable foot ulcers]. 61
9404151 1997
50
Surgical treatment supposed natural history of the tethered cord with occult spinal dysraphism. 61
9224916 1997
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Variations for Lumbosacral Lipoma

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Expression for Lumbosacral Lipoma

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Search GEO for disease gene expression data for Lumbosacral Lipoma.
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Pathways for Lumbosacral Lipoma

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Pathways related to Lumbosacral Lipoma according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
TGF-Beta Pathway 63
Show member pathways
 12.96 LEFTY2 IL1R1 IL1B EPOR EPO
2
Th17 cell differentiation 36
Show member pathways
 12.21 IL1R1 IL1B HIF1A
3
HIF1Alpha Pathway 63
11.21 HIF1A EPO
4
Interleukin-10 signaling 65
11.15 IL1R1 IL1B
5
Hematopoietic Stem Cell Differentiation 1
11.11 IL1B EPO
6
Paxillin-dependent events mediated by a4b1 1
Show member pathways
 11.05 EPOR EPO
7
Monoamine Transport 1
Show member pathways
 11 IL1R1 IL1B
8
Hematopoietic cell lineage 36
10.92 IL1R1 IL1B EPOR EPO
9
Photodynamic therapy-induced HIF-1 survival signaling 1
10.82 HIF1A EPO
10
G-protein signaling_K-RAS regulation pathway 23
10.59 EPOR EPO
11
IL1 and megakaryocytes in obesity 1
10.35 IL1R1 IL1B
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GO Terms for Lumbosacral Lipoma

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Biological processes related to Lumbosacral Lipoma according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.88 LEFTY2 IL1R1 IL1B HIF1A EPOR EPO
2 positive regulation of transcription, DNA-templated GO:0045893 9.81 TBX5 IL1B HIF1A EPO
3 cytokine-mediated signaling pathway GO:0019221 9.56 IL1R1 IL1B HIF1A EPOR
4 embryo implantation GO:0007566 9.54 IL1B EPO
5 positive regulation of Ras protein signal transduction GO:0046579 9.52 EPOR EPO
6 positive regulation of vascular endothelial growth factor production GO:0010575 9.49 IL1B HIF1A
7 negative regulation of reactive oxygen species metabolic process GO:2000378 9.48 HIF1A G6PD
8 positive regulation of vascular endothelial growth factor receptor signaling pathway GO:0030949 9.46 IL1B HIF1A
9 erythrocyte maturation GO:0043249 9.43 G6PD EPO
10 vascular endothelial growth factor production GO:0010573 9.37 IL1B HIF1A
11 hemoglobin biosynthetic process GO:0042541 9.32 HIF1A EPO
12 positive regulation of T-helper 1 cell cytokine production GO:2000556 9.16 IL1R1 IL1B
13 erythropoietin-mediated signaling pathway GO:0038162 8.96 EPOR EPO
14 response to interleukin-1 GO:0070555 8.8 IL1R1 IL1B EPO

Molecular functions related to Lumbosacral Lipoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 8.8 LEFTY2 IL1B EPO
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Sources for Lumbosacral Lipoma

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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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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