MCID: LPM005
MIFTS: 45

Lipomatosis

Categories: Cancer diseases, Genetic diseases, Metabolic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Lipomatosis

MalaCards integrated aliases for Lipomatosis:

Name: Lipomatosis 12 54 43 15 17 71
Benign Symmetrical Lipomatosis 71

Classifications:



External Ids:

Disease Ontology 12 DOID:3153
MeSH 43 D008068
SNOMED-CT 67 37095002
ICD10 32 E88.2
UMLS 71 C0023801 C2931642

Summaries for Lipomatosis

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 Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and NFAT and Cardiac Hypertrophy. Affiliated tissues include thyroid, kidney and colon, and related phenotypes are cardiovascular system and growth/size/body region

Wikipedia : 74 Lipomatosis is believed to be an autosomal dominant condition in which multiple lipomas are present on... more...

Related Diseases for Lipomatosis

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 583)
# Related Disease Score Top Affiliating Genes
1 encephalocraniocutaneous lipomatosis 34.8 KRAS HMGA2 FGFR1
2 lipomatosis, multiple 33.6 UCP1 PTEN MT-TK MEN1 HMGA2 FGFR1
3 adiposis dolorosa 32.8 MT-TK CCL4
4 lipomatosis, multiple symmetric 32.6 UCP1 MT-TK MIR483 MIR140 MFN2
5 proteus syndrome 31.1 PTEN PIK3CA FGFR1
6 liposarcoma 30.7 PTEN PIK3CA HMGA2
7 congenital heart defects, hamartomas of tongue, and polysyndactyly 30.3 PTEN HMGA2
8 skin lipoma 30.2 PTEN MEN1 HMGA2 FGFR1
9 neurofibromatosis, type iv, of riccardi 30.1 SDHB PTEN MEN1 KRAS
10 multiple endocrine neoplasia 30.1 SDHB PRKAR1A MEN1
11 cowden syndrome 1 29.9 SDHB PTEN PIK3CA
12 nevus, epidermal 29.8 PTEN PIK3CA KRAS FGFR1
13 adenoma 29.8 PRKAR1A PIK3CA MEN1 KRAS
14 early myoclonic encephalopathy 29.6 SDHB MT-TK COX5A
15 cowden syndrome 29.5 SDHB PTEN PRKAR1A PIK3CA MEN1
16 gastrointestinal stromal tumor 29.5 SDHB PTEN MEN1 KRAS
17 glioma 29.4 PTEN PIK3CA MIR140 FGFR1
18 myoclonic epilepsy associated with ragged-red fibers 29.4 SDHB MT-TK MFN2 COX5A
19 chronic progressive external ophthalmoplegia 29.1 SDHB MT-TK COX5A
20 mitochondrial myopathy 29.0 SDHB MT-TK MFN2 COX5A
21 adrenal carcinoma 28.9 SDHB PRKAR1A MIR483 MEN1
22 multiple endocrine neoplasia, type i 28.9 SDHB PRKAR1A MIR483 MEN1
23 mitochondrial metabolism disease 28.9 SDHB MT-TK MFN2 COX5A
24 kearns-sayre syndrome 28.8 SDHB MT-TK MFN2 COX5A
25 lymphoma, non-hodgkin, familial 28.7 PTEN PIK3CA MIR483 MIR140 FGFR1
26 body mass index quantitative trait locus 11 28.3 UCP1 PPARGC1A MIR483 MIR140 MFN2 LIPE
27 diabetes mellitus, noninsulin-dependent 27.2 UCP1 SDHB PPARGC1A PIK3CA MIR483 MIR140
28 pelvic lipomatosis 12.7
29 roch-leri mesosomatous lipomatosis 12.5
30 hemihyperplasia-multiple lipomatosis syndrome 12.5
31 mediastinal lipomatosis 12.4
32 diffuse lipomatosis 12.4
33 facial infiltrating lipomatosis 12.3
34 pelvic lipomatosis with crossed renal ectopia 12.2
35 segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome 12.2
36 steroid lipomatosis 12.2
37 pancreatic lipomatosis duodenal stenosis 12.2
38 pierpont syndrome 11.8
39 shwachman-diamond syndrome 1 11.8
40 pik3ca-related overgrowth spectrum 11.7
41 pleomorphic lipoma 11.6
42 stiff skin syndrome 11.2
43 maturity-onset diabetes of the young, type 8, with exocrine dysfunction 11.2
44 lipedematous scalp 11.1
45 overgrowth syndrome 10.6
46 alcohol dependence 10.5
47 thyroid hurthle cell adenoma 10.5 PTEN PIK3CA
48 rosette-forming glioneuronal tumor 10.4 PIK3CA FGFR1
49 back pain 10.4
50 rare adenocarcinoma of the breast 10.4 PIK3CA KRAS

Graphical network of the top 20 diseases related to Lipomatosis:



Diseases related to Lipomatosis

Symptoms & Phenotypes for Lipomatosis

UMLS symptoms related to Lipomatosis:


pruritus, exanthema

MGI Mouse Phenotypes related to Lipomatosis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.11 FGFR1 KRAS LIPE MEN1 MFN2 PIK3CA
2 growth/size/body region MP:0005378 10.11 CEL FGFR1 KRAS LIPE MEN1 MFN2
3 homeostasis/metabolism MP:0005376 10.1 CEL FGFR1 KRAS LIPE MEN1 MFN2
4 endocrine/exocrine gland MP:0005379 10.06 FGFR1 KRAS LIPE MEN1 PIK3CA PPARGC1A
5 digestive/alimentary MP:0005381 10.03 CEL FGFR1 KRAS LIPE MEN1 PPARGC1A
6 adipose tissue MP:0005375 10.02 CEL LIPE PIK3CA PPARGC1A PRKAR1A PTEN
7 muscle MP:0005369 9.81 FGFR1 KRAS LIPE MEN1 MFN2 PIK3CA
8 liver/biliary system MP:0005370 9.8 CEL KRAS LIPE MEN1 PPARGC1A PRKAR1A
9 neoplasm MP:0002006 9.5 KRAS MEN1 PIK3CA PPARGC1A PRKAR1A PTEN
10 pigmentation MP:0001186 9.02 KRAS MFN2 PPARGC1A PRKAR1A PTEN

Drugs & Therapeutics for Lipomatosis

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Open Label Phase II Study of Everolimus (RAD001) in Patients With Segmental Overgrowth Syndrome Withdrawn NCT02569125 Phase 2 Everolimus
2 Identification of Mutations Responsible for Rare Familial Skin Diseases by Next Generation Sequencing Unknown status NCT02509650
3 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
4 FDG/PET Imaging for the Assessment of Brown Adipose Tissue in HIV Lipodystrophy Completed NCT01098045

Search NIH Clinical Center for Lipomatosis

Cochrane evidence based reviews: lipomatosis

Genetic Tests for Lipomatosis

Anatomical Context for Lipomatosis

MalaCards organs/tissues related to Lipomatosis:

40
Thyroid, Kidney, Colon, Liver, Pancreas, Spinal Cord, Pituitary

Publications for Lipomatosis

Articles related to Lipomatosis:

(show top 50) (show all 2219)
# Title Authors PMID Year
1
Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity. 54 61
17392703 2007
2
PTEN regulates phospholipase D and phospholipase C. 54 61
17405772 2007
3
Protean PTEN: form and function. 54 61
11875759 2002
4
A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association. 54 61
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. 54 61
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. 54 61
10519386 1999
10
The role of PTEN, a phosphatase gene, in inherited and sporadic nonmedullary thyroid tumors. 54 61
10548886 1999
11
Severe Myocardial Steatosis: Incidental Finding or a Significant Anatomic Substrate for Sudden Cardiac Arrest? 61
32000221 2020
12
Nevus psiloliparus: Newly described histopathologic features from transverse sections. 61
32034785 2020
13
The potential of machine learning to predict postoperative pancreatic fistula based on preoperative, non-contrast-enhanced CT: A proof-of-principle study. 61
31727325 2020
14
Characteristic Radiological Features of Retrospectively Diagnosed Pancreatic Cancers. 61
31856082 2020
15
Progressive myelopathy associated with spinal epidural lipomatosis in three non-obese patients with type 1 diabetes mellitus. 61
31972349 2020
16
Mitochondrial DNA pathogenic mutations in multiple symmetric lipomatosis. 61
31912494 2020
17
Clinical and Molecular Investigation of Familial Multiple Lipomatosis: Variants in the HMGA2 Gene. 61
32021365 2020
18
Non surgical management for massive gastric lipomatosis. 61
31846867 2020
19
Spinal Epidural Lipomatosis: A Rare Complication From Hormonal Therapy for Infantile Spasms. 61
31444013 2019
20
Negative impact of spinal epidural lipomatosis on the surgical outcome of posterior lumbar spinous-splitting decompression surgery: a multicenter retrospective study. 61
31254650 2019
21
Osteopathic Considerations for Peripheral Neuropathy Due to Concomitant Diffuse Idiopathic Skeletal Hyperostosis Syndrome and Lumbar Epidural Lipomatosis: Case Report. 61
31746769 2019
22
Differential diagnosis of fat-containing lesions in the inguinal canal using ultrasound. 61
31807328 2019
23
Jejuno-jejunal intussusception secondary to diffuse intestinal lipomatosis. 61
31824643 2019
24
Synovial lipomatosis in the interphalangeal joint of the great toe. 61
31254298 2019
25
Relationship between appendicitis and diameter of ileocecal lipomatosis and also ileocecal angle. 61
31781922 2019
26
Extensive Fatty Replacement of the Pancreas (Pancreatic Lipomatosis) in a Dog. 61
31812169 2019
27
Congenital infiltrating lipomatosis of the face: A subtype of hemifacial hyperplasia. 61
31280031 2019
28
Exome sequencing confirms diagnosis of kabuki syndrome in an-adult with hodgkin lymphoma and unusually severe multisystem phenotype. 61
30282051 2019
29
Thoracic myelopathy caused by an extremely rare aberrant epidural ligament: A case report. 61
31593083 2019
30
Giant Ocular Lipodermoid Cyst in Encephalocraniocutaneous Lipomatosis: Surgical Treatment and Genetic Analysis. 61
31649234 2019
31
Oculoectodermal Syndrome - Encephalocraniocutaneous Lipomatosis Associated with NRAS Mutation. 61
31633190 2019
32
Spinal epidural lipomatosis is associated with liver fat deposition and dysfunction. 61
31430628 2019
33
MRI Diagnosis of Obesity-Related Spinal Epidural Lipomatosis. 61
31549605 2019
34
Epidural Lipomatosis and Syringomyelia in Adulthood: Case Report and Literature Review. 61
31228704 2019
35
Genetic syndromes with localized subcutaneous fat tissue accumulation. 61
31577262 2019
36
A Novel Percutaneous Biportal Endoscopic Technique for Symptomatic Spinal Epidural Lipomatosis: Technical Note and Case Presentations. 61
31154106 2019
37
PIK3CA mutations in lipomatosis of nerve with or without nerve territory overgrowth. 61
31481664 2019
38
Spinal Epidural Lipomatosis: A Review of Pathogenesis, Characteristics, Clinical Presentation, and Management. 61
31448201 2019
39
A Case of Epidural Management in a Pregnant Patient with Spinal Epidural Lipomatosis. 61
31523590 2019
40
Can Lipomatosis of the Nerve Occur or Extend Intradurally? 61
31154102 2019
41
Madelung's Disease Leading to Presenile Dementia in a Non-alcoholic Patient. 61
31762567 2019
42
Sensitive detection of FGFR1 N546K mosaic mutation in patient with encephalocraniocutaneous lipomatosis and pilocytic astrocytoma. 61
31173478 2019
43
Lipomatosis of spinal epidural space, peritoneum, and renal sinus: a rare complication of long-term steroid therapy in a child with nephrotic syndrome. 61
30941508 2019
44
Surgical Treatment of Lipomatosis of Nerve: A Systematic Review. 61
31009789 2019
45
Epidural Spinal Injections in Spinal Stenosis due to Lipomatosis: With or without Steroids? 61
31345944 2019
46
Anaesthetic management of a case of Haberland's syndrome (encephalocraniocutaneous lipomatosis). 61
31391623 2019
47
Dyspnoea and restrictive lung disease due to mediastinal and pleural lipomatosis in morbid obesity. 61
31007928 2019
48
A Clear Mystery: Recognizing Lipomatosis of the Nerve. 61
31576279 2019
49
Ultrasound Imaging for Painful Lipomatosis: Cutaneous Nerves Really Matter! 61
31361622 2019
50
Comparison of relative and absolute values of magnetic resonance imaging in the diagnosis of spinal epidural lipomatosis. 61
29595411 2019

Variations for Lipomatosis

Expression for Lipomatosis

Search GEO for disease gene expression data for Lipomatosis.

Pathways for Lipomatosis

Pathways related to Lipomatosis according to GeneCards Suite gene sharing:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.29 UCP1 SDHB PPARGC1A PIK3CA LIPE KRAS
2
Show member pathways
12.65 PTEN PRKAR1A PIK3CA KRAS FGFR1
3
Show member pathways
12.57 PTEN PRKAR1A PPARGC1A PIK3CA LIPE KRAS
4
Show member pathways
12.29 PTEN PIK3CA KRAS FGFR1
5 12.15 PTEN PIK3CA MIR483 KRAS HMGA2
6 12.04 UCP1 PTEN PPARGC1A MFN2 LIPE
7
Show member pathways
12.02 PTEN PIK3CA KRAS FGFR1
8
Show member pathways
11.88 PTEN PRKAR1A PIK3CA KRAS
9 11.81 UCP1 PPARGC1A LIPE KRAS
10 11.79 PTEN PIK3CA KRAS
11
Show member pathways
11.77 PTEN PPARGC1A PIK3CA
12
Show member pathways
11.63 PIK3CA KRAS FGFR1
13
Show member pathways
11.57 PIK3CA KRAS FGFR1
14 10.76 PTEN PIK3CA KRAS FGFR1
15 10.61 PTEN PIK3CA KRAS
16 10.36 UCP1 PPARGC1A

GO Terms for Lipomatosis

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of cold-induced thermogenesis GO:0120162 9.63 UCP1 PPARGC1A MFN2
2 regulation of synaptic transmission, GABAergic GO:0032228 9.48 PTEN KRAS
3 positive regulation of vascular associated smooth muscle cell apoptotic process GO:1905461 9.43 MIR140 MFN2
4 negative regulation of protein phosphorylation GO:0001933 9.43 PTEN PPARGC1A MEN1
5 negative regulation by host of viral transcription GO:0043922 9.4 HMGA2 CCL4
6 presynaptic membrane assembly GO:0097105 9.37 PTEN CEL
7 mesenchymal cell differentiation GO:0048762 9.32 HMGA2 FGFR1
8 adaptive thermogenesis GO:1990845 9.16 UCP1 PPARGC1A
9 cellular response to glucose stimulus GO:0071333 9.13 PPARGC1A PIK3CA MEN1
10 positive regulation of gene expression GO:0010628 9.02 PTEN PPARGC1A MIR140 KRAS HMGA2

Sources for Lipomatosis

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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