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MCID: LPM005
MIFTS: 47

Lipomatosis

Categories: Cancer diseases, Genetic diseases, Metabolic diseases, Rare diseases, Skin diseases
Genes Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Lipomatosis

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MalaCards integrated aliases for Lipomatosis:

Name: Lipomatosis 12 54 44 15 17 70
Benign Symmetrical Lipomatosis 70

Classifications:

MalaCards categories:
Global: Metabolic diseases Rare diseases Cancer diseases Genetic diseases
Anatomical: Skin diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:3153
MeSH 44 D008068
SNOMED-CT 67 37095002
ICD10 32 E88.2
UMLS 70 C0023801 C2931642
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Summaries for Lipomatosis

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MalaCards based summary : Lipomatosis, also known as benign symmetrical lipomatosis, is related to encephalocraniocutaneous lipomatosis and lipomatosis, multiple, and has symptoms including pruritus and exanthema. An important gene associated with Lipomatosis is FGFR1 (Fibroblast Growth Factor Receptor 1), and among its related pathways/superpathways are Metabolism and Pathways of neurodegeneration - multiple diseases. The drugs Hydrocortisone and Hydrocortisone acetate have been mentioned in the context of this disorder. Affiliated tissues include pancreas, kidney and thyroid, and related phenotypes are homeostasis/metabolism and growth/size/body region

Wikipedia : 73 Lipomatosis is believed to be an autosomal dominant condition in which multiple lipomas are present on... more...

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Related Diseases for Lipomatosis

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Diseases in the Lipomatosis family:

Lipomatosis, Multiple

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

(show top 50) (show all 613)
# Related Disease Score Top Affiliating Genes
1 encephalocraniocutaneous lipomatosis 32.9 KRAS HMGA2 FGFR1
2 lipomatosis, multiple 32.7 UCP1 PTEN MEN1 HMGA2
3 lipomatosis, multiple symmetric 32.5 UCP1 MIR483 MFN2 CAPSL
4 liposarcoma 30.5 PTEN PIK3CA HMGA2
5 oculoectodermal syndrome 30.4 PIK3CA KRAS FGFR1
6 skin lipoma 30.3 PTEN MEN1
7 congenital heart defects, hamartomas of tongue, and polysyndactyly 30.3 PTEN HMGA2
8 pilocytic astrocytoma 30.0 PTEN PIK3CA KRAS FGFR1
9 multiple endocrine neoplasia 30.0 SDHB PRKAR1A MEN1
10 rasopathy 29.9 PTEN PIK3CA KRAS FGFR1
11 lipoma of colon 29.8 PTEN HMGA2
12 schimmelpenning-feuerstein-mims syndrome 29.8 PIK3CA KRAS FGFR1
13 nevus, epidermal 29.7 PTEN PIK3CA KRAS FGFR1
14 peripheral nervous system disease 29.7 SIRT1 PTEN PPARGC1A MIR483 MFN2
15 neurofibromatosis, type i 29.7 SDHB PTEN MEN1 KRAS
16 cowden syndrome 29.5 SDHB PTEN PRKAR1A PIK3CA MEN1
17 adenoma 29.5 PRKAR1A PIK3CA MEN1 KRAS
18 gastrointestinal stromal tumor 29.5 SDHB PTEN MEN1 KRAS
19 meningioma, familial 29.3 PTEN PRKAR1A PIK3CA MEN1
20 carney complex variant 29.1 SDHB PRKAR1A MIR483 MEN1
21 multiple endocrine neoplasia, type i 29.1 SDHB PRKAR1A MIR483 MEN1
22 chronic progressive external ophthalmoplegia 29.1 SDHB MFN2 COX5A
23 mitochondrial myopathy 29.0 SDHB PPARGC1A MFN2 COX5A
24 body mass index quantitative trait locus 11 29.0 UCP1 SIRT1 PPARGC1A MIR483 MFN2 LIPE
25 adrenal carcinoma 28.9 SDHB PRKAR1A PIK3CA MIR483 MEN1
26 diabetes mellitus 28.6 UCP1 SIRT1 PTEN PPARGC1A PIK3CA MEN1
27 pelvic lipomatosis 11.6
28 facial infiltrating lipomatosis 11.5
29 roch-leri mesosomatous lipomatosis 11.3
30 mediastinal lipomatosis 11.3
31 diffuse lipomatosis 11.2
32 pierpont syndrome 11.2
33 hemihyperplasia-multiple lipomatosis syndrome 11.2
34 shwachman-diamond syndrome 1 11.2
35 pancreatic lipomatosis duodenal stenosis 11.1
36 steroid lipomatosis 11.1
37 adiposis dolorosa 11.1
38 pleomorphic lipoma 11.1
39 pik3ca-related overgrowth spectrum 11.0
40 pelvic lipomatosis with crossed renal ectopia 10.9
41 segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome 10.9
42 stiff skin syndrome 10.9
43 maturity-onset diabetes of the young, type 8, with exocrine dysfunction 10.9
44 lipedematous scalp 10.9
45 overgrowth syndrome 10.6
46 alcohol dependence 10.4
47 thyroid hurthle cell adenoma 10.4 PTEN PIK3CA
48 rosette-forming glioneuronal tumor 10.3 PIK3CA FGFR1
49 serrated polyposis syndrome 10.3 PTEN KRAS
50 proteus syndrome 10.3

Graphical network of the top 20 diseases related to Lipomatosis:



Diseases related to Lipomatosis
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Symptoms & Phenotypes for Lipomatosis

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UMLS symptoms related to Lipomatosis:


pruritus; exanthema

MGI Mouse Phenotypes related to Lipomatosis:

46 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.28 CEL FGFR1 KRAS LIPE MEN1 MFN2
2 growth/size/body region MP:0005378 10.27 CEL FGFR1 KRAS LIPE MEN1 MFN2
3 cardiovascular system MP:0005385 10.26 FGFR1 KRAS LIPE MEN1 MFN2 PIK3CA
4 cellular MP:0005384 10.25 FGFR1 KRAS LIPE MEN1 MFN2 PIK3CA
5 adipose tissue MP:0005375 10.19 CEL LIPE PIK3CA PPARGC1A PRKAR1A PTEN
6 digestive/alimentary MP:0005381 10.19 CEL FGFR1 KRAS LIPE MEN1 PPARGC1A
7 endocrine/exocrine gland MP:0005379 10.18 FGFR1 KRAS LIPE MEN1 PIK3CA PPARGC1A
8 liver/biliary system MP:0005370 10.06 CEL KRAS LIPE MEN1 PPARGC1A PRKAR1A
9 muscle MP:0005369 10.02 FGFR1 KRAS LIPE MEN1 MFN2 PIK3CA
10 neoplasm MP:0002006 9.92 KRAS MEN1 PIK3CA PPARGC1A PRKAR1A PTEN
11 reproductive system MP:0005389 9.81 FGFR1 KRAS LIPE MEN1 PIK3CA PPARGC1A
12 pigmentation MP:0001186 9.65 KRAS MFN2 PPARGC1A PRKAR1A PTEN
13 skeleton MP:0005390 9.61 FGFR1 KRAS LIPE MFN2 PIK3CA PPARGC1A
14 vision/eye MP:0005391 9.28 FGFR1 KRAS PIK3CA PPARGC1A PRKAR1A PTEN
Sources

Drugs & Therapeutics for Lipomatosis

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Drugs for Lipomatosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydrocortisone Approved, Vet_approved Phase 3 50-23-7 5754
2
Hydrocortisone acetate Approved, Vet_approved Phase 3 50-03-3
3 Anti-Inflammatory Agents Phase 3
4 Hydrocortisone 17-butyrate 21-propionate Phase 3
5 Hydrocortisone hemisuccinate Phase 3
6
tannic acid Approved 1401-55-4
7
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Hydrocortisone Treatment for Symmetric Lipomatosis Associated With Neuropathy (SLN): an N-of-1 Study Not yet recruiting NCT04821583 Phase 3 Hydrocortisone;Placebo
2 Insight Into Subcutaneous Adipose Tissue Disorders As Part of The TREAT Program (Treatment, Research, Education, Adipose Tissue) at the University of Arizona Unknown status NCT02838277
3 Identification of Mutations Responsible for Rare Familial Skin Diseases by Next Generation Sequencing Unknown status NCT02509650
4 Spinal Epidural Lipomatosis: a Case Report and Review of the Literature Completed NCT04622501
5 Endocrine Diabetes Screening in Patients With Shwachman-Diamond Syndrome DIABETES/ ENDOCRINE SURVEILLANCE IN SDS Recruiting NCT04275479

Search NIH Clinical Center for Lipomatosis

Cochrane evidence based reviews: lipomatosis

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Genetic Tests for Lipomatosis

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Anatomical Context for Lipomatosis

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MalaCards organs/tissues related to Lipomatosis:

40
Pancreas, Kidney, Thyroid, Tongue, Spinal Cord, Bone, Small Intestine
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Publications for Lipomatosis

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Articles related to Lipomatosis:

(show top 50) (show all 2338)
# Title Authors PMID Year
1
Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity. 61 54
17392703 2007
2
PTEN regulates phospholipase D and phospholipase C. 61 54
17405772 2007
3
Protean PTEN: form and function. 61 54
11875759 2002
4
A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association. 61 54
11748304 2001
5
Role of the high mobility group A proteins in human lipomas. 54 61
11576996 2001
6
Multiple lipomas linked to an RB1 gene mutation in a large pedigree with low penetrance retinoblastoma. 54 61
11571558 2001
7
Onset of natural killer cell lymphomas in transgenic mice carrying a truncated HMGI-C gene by the chronic stimulation of the IL-2 and IL-15 pathway. 61 54
11427729 2001
8
Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis. 54 61
10749983 2000
9
The expression of a truncated HMGI-C gene induces gigantism associated with lipomatosis. 61 54
10519386 1999
10
The role of PTEN, a phosphatase gene, in inherited and sporadic nonmedullary thyroid tumors. 54 61
10548886 1999
11
A non-alcohol-related case of Madelung's disease: Challenging patient with progressive jugular vein distension. 61
33777283 2021
12
Multilevel Hemilaminotomy Windows for the Surgical Management of Spinal Epidural Lipomatosis Causing Syringomyelia: Technical Note and Literature Review. 61
33412315 2021
13
Adult-Onset Asymmetrical Lipomatosis: Thigh Girdle Lipomatosis. 61
33219476 2021
14
Intrinsic peripheral nerve and root tumor and pseudotumoral lesions at a tertiary care pediatric hospital. 61
33404726 2021
15
Lipomatosis and optic neuropathy clinches the diagnosis of myoclonic epilepsy with ragged red fibres (MERRF) syndrome. 61
33766967 2021
16
Encephalocraniocutaneous lipomatosıs (Haberland syndrome) in a newborn baby: a case report with review of literature. 61
33649896 2021
17
Rare Forms of Lipomatosis: Dercum's Disease and Roch-Leri Mesosomatous Lipomatosis. 61
33800991 2021
18
Aesthetic Consideration in a Patient With Lipomatosis. 61
33705070 2021
19
What's known and what's new in adipose lesions of peripheral nerves? 61
33089450 2021
20
Multiple Intraosseous Lipomatosis - A Case Report and a Review of the Literature. 61
33622889 2021
21
A Novel Synergistic Association of Variants in PTRH2 and KIF1A Relates to a Syndrome of Hereditary Axonopathy, Outer Hair Cell Dysfunction, Intellectual Disability, Pancreatic Lipomatosis, Diabetes, Cerebellar Atrophy, and Vertebral Artery Hypoplasia. 61
33717719 2021
22
Encephalocraniocutaneous Lipomatosis Associated with Orbital Cyst: A Variant or New Entity? 61
33631921 2021
23
Perioperative Management of an Adult Patient With Myoclonic Epilepsy With Ragged Red Fibers Syndrome: A Case Report. 61
33577170 2021
24
Insights into the etiology and physiopathology of MODY5/HNF1B pancreatic phenotype with a mouse model of the human disease. 61
33527355 2021
25
Spondylotic and Other Structural Myelopathies. 61
33522741 2021
26
Clinical experience with the AKT1 inhibitor miransertib in two children with PIK3CA-related overgrowth syndrome. 61
33639990 2021
27
[Epidural lipomatosis : management proposal]. 61
33543850 2021
28
Clinical Implications of the Epidural Fat Thickness in the Management of Lumbar Spinal Stenosis. 61
33091643 2021
29
Case Report: A Case of Glioblastoma in a Patient With Haberland Syndrome. 61
33763397 2021
30
A "bridge" technique to replace the obstructed single-J stent in the patient with ileal conduit urinary diversion: a case report. 61
33532342 2021
31
Diagnostic accuracy of CT imaging parameters in pelvic lipomatosis. 61
33507345 2021
32
Epidural lipomatosis in elderly patient: A rare cause of cauda equina compression. 61
33500822 2021
33
Rare Case of Spinal Neurosarcoidosis with Concomitant Epidural Lipomatosis. 61
33604089 2021
34
Haberland syndrome with bilateral ocular involvement. 61
32861528 2021
35
LIPE-related lipodystrophic syndrome: clinical features and disease modeling using adipose stem cells. 61
33112291 2021
36
Small Intestinal Intussusception Due to Complicated Giant Jejunal Diverticulosis. 61
33525341 2021
37
Madelung Disease Epidemiology and Clinical Characteristics: a Systemic Review. 61
33492475 2021
38
"Y" sign in spinal epidural lipomatosis. 61
32711116 2021
39
Lumbar spinal epidural lipomatosis: A case report and review of the literature. 61
33310475 2021
40
Idiopathic Spinal Epidural Lipomatosis: Unusual Presentation and Difficult Management. 61
33628556 2021
41
Difficult cystoscopy due to "Elongated" urethra- think of pelvic lipomatosis. 61
33251114 2021
42
Loss of FZO1 gene results in changes of cell dynamics in fission yeast. 61
33125111 2020
43
Telocytes/CD34+ Stromal Cells in Pathologically Affected White Adipose Tissue. 61
33353193 2020
44
Expression of the EWSR1-FLI1 fusion oncogene in pancreas cells drives pancreatic atrophy and lipomatosis. 61
33051146 2020
45
MR spectroscopy differences between lipomatosis of nerve and neuromuscular choristoma: a potential adjunctive diagnostic tool. 61
32535774 2020
46
Computed tomography-adjusted fistula risk score for predicting clinically relevant postoperative pancreatic fistula after pancreatoduodenectomy: Training and external validation of model upgrade. 61
33161232 2020
47
Aesthetic Consideration in a Patient With Lipomatosis. 61
33235159 2020
48
Congenital infiltrating lipomatosis of the face with lingual mucosal neuromas associated with a PIK3CA mutation. 61
32770747 2020
49
Superimposed mosaicism in tuberous sclerosis complex: a key to understanding all of the manifold manifestations? 61
32396651 2020
50
[Progression and clinical application in unilateral biportal endoscopic]. 61
33120454 2020
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Variations for Lipomatosis

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Expression for Lipomatosis

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Search GEO for disease gene expression data for Lipomatosis.
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Pathways for Lipomatosis

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Pathways related to Lipomatosis according to GeneCards Suite gene sharing:

(show all 22)
# Super pathways Score Top Affiliating Genes
1
Metabolism 65
Show member pathways
 13.99 UCP1 TBL1XR1 SIRT1 SDHB PTEN PRKAR1A
2
Pathways of neurodegeneration - multiple diseases 36
Show member pathways
 13.32 UCP1 SDHB PPARGC1A PIK3CA MFN2 KRAS
3
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. 65
Show member pathways
 12.94 UCP1 SDHB PTEN PPARGC1A PIK3CA LIPE
4
NFAT and Cardiac Hypertrophy 63
Show member pathways
 12.69 PTEN PRKAR1A PIK3CA KRAS FGFR1
5
Regulation of lipid metabolism Insulin signaling-generic cascades 23
Show member pathways
 12.68 PTEN PRKAR1A PPARGC1A PIK3CA LIPE KRAS
6
mTOR signaling pathway (KEGG) 36
Show member pathways
 12.35 PTEN PIK3CA KRAS FGFR1
7
VEGF Signaling 66
Show member pathways
 12.34 PTEN PIK3CA KRAS FGFR1
8
AMP-activated Protein Kinase (AMPK) Signaling 1
Show member pathways
 12.33 SIRT1 PPARGC1A PIK3CA LIPE
9
Chromatin Regulation / Acetylation 4
12.24 TBL1XR1 SIRT1 MEN1 HMGA2
10
Cellular senescence (KEGG) 36
11.99 SIRT1 PTEN PIK3CA KRAS
11
Longevity regulating pathway 36
Show member pathways
 11.96 SIRT1 PPARGC1A PIK3CA KRAS
12
Development EGFR signaling via small GTPases 23
Show member pathways
 11.94 PTEN PRKAR1A PIK3CA KRAS
13
MicroRNAs in cancer 36
11.92 SIRT1 PTEN PIK3CA MIR483 KRAS HMGA2
14
FoxO signaling pathway 36
Show member pathways
 11.84 SIRT1 PTEN PIK3CA KRAS
15
Insulin resistance 36
Show member pathways
 11.82 PTEN PPARGC1A PIK3CA
16
Apelin signaling pathway 36
11.81 UCP1 PPARGC1A LIPE KRAS
17
FGFR1 mutant receptor activation 65
Show member pathways
 11.68 PIK3CA KRAS FGFR1
18
VEGF Pathway (Tocris) 69
Show member pathways
 11.62 PIK3CA KRAS FGFR1
19
Glucose / Energy Metabolism 4
11.59 UCP1 SIRT1 PTEN PPARGC1A MFN2 LIPE
20
Central carbon metabolism in cancer 36
11.4 PTEN PIK3CA KRAS FGFR1
21
PI3K-AKT-mTOR signaling pathway and therapeutic opportunities 1
10.97 PTEN PIK3CA KRAS
22
FTO Obesity Variant Mechanism 1
10.41 UCP1 PPARGC1A
Sources

GO Terms for Lipomatosis

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Cellular components related to Lipomatosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 PML body GO:0016605 8.8 SIRT1 PTEN PPARGC1A

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cold-induced thermogenesis GO:0120162 9.67 UCP1 PPARGC1A MFN2
2 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.63 SIRT1 PIK3CA FGFR1
3 positive regulation of gluconeogenesis GO:0045722 9.52 SIRT1 PPARGC1A
4 regulation of synaptic transmission, GABAergic GO:0032228 9.51 PTEN KRAS
5 negative regulation of protein phosphorylation GO:0001933 9.5 PTEN PPARGC1A MEN1
6 negative regulation by host of viral transcription GO:0043922 9.48 HMGA2 CCL4
7 negative regulation of cAMP-dependent protein kinase activity GO:2000480 9.43 SIRT1 PRKAR1A
8 negative regulation of cell cycle G1/S phase transition GO:1902807 9.4 PTEN MEN1
9 presynaptic membrane assembly GO:0097105 9.37 PTEN CEL
10 cellular response to glucose stimulus GO:0071333 9.33 PPARGC1A PIK3CA MEN1
11 adaptive thermogenesis GO:1990845 9.26 UCP1 PPARGC1A
12 heterochromatin assembly GO:0031507 8.96 SIRT1 HMGA2
13 positive regulation of cellular senescence GO:2000774 8.8 SIRT1 KRAS HMGA2

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

# Name GO ID Score Top Affiliating Genes
1 sterol esterase activity GO:0004771 8.62 LIPE CEL
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Sources for Lipomatosis

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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