MCID: LPM005
MIFTS: 46

Lipomatosis

Categories: Cancer diseases, Genetic diseases, Metabolic diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Lipomatosis

MalaCards integrated aliases for Lipomatosis:

Name: Lipomatosis 11 53 43 14 16 71 75
Benign Symmetrical Lipomatosis 71

Classifications:



External Ids:

Disease Ontology 11 DOID:3153
MeSH 43 D008068
SNOMED-CT 68 37095002
ICD10 31 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 PI3K-Akt signaling pathway and Malignant pleural mesothelioma. The drugs Hydrocortisone succinate and Hydrocortisone acetate have been mentioned in the context of this disorder. Affiliated tissues include skin, spinal cord and small intestine, and related phenotypes are homeostasis/metabolism and growth/size/body region

Wikipedia: 75 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 725)
# Related Disease Score Top Affiliating Genes
1 encephalocraniocutaneous lipomatosis 33.0 KRAS HMGA2 FGFR1
2 lipomatosis, multiple 32.7 UCP1 PTEN PIK3CA MEN1 HMGA2
3 diffuse lipomatosis 32.4 PIK3CA MFN2
4 lipomatosis, multiple symmetric 32.2 UCP1 MIR483 MIR125A MFN2 LIPE CAPSL
5 adiposis dolorosa 31.9 IL13 HMGA2 CCL4
6 liposarcoma 30.7 PTEN PIK3CA HMGA2 FGFR1
7 spinal cord disease 30.6 PTEN MIR125A FGFR1
8 schimmelpenning-feuerstein-mims syndrome 30.4 PIK3CA KRAS FGFR1
9 hemimegalencephaly 30.4 PTEN PIK3CA
10 cowden syndrome 30.4 PTEN PIK3CA MEN1 KRAS
11 skin lipoma 30.2 PTEN MEN1 HMGA2
12 oculoectodermal syndrome 30.1 KRAS FGFR1
13 leptin deficiency or dysfunction 30.0 UCP1 PPARGC1A LIPE INS
14 pilocytic astrocytoma 30.0 PTEN KRAS FGFR1
15 nevus, epidermal 30.0 PTEN PIK3CA KRAS FGFR1
16 neurofibromatosis, type i 30.0 PTEN MEN1 KRAS
17 gastrointestinal stromal tumor 29.8 PTEN PIK3CA MEN1 KRAS FGFR1
18 thyroid gland follicular carcinoma 29.6 PTEN PIK3CA MIR125A
19 adenoma 29.5 PIK3CA MEN1 KRAS HMGA2
20 costello syndrome 29.5 PIK3CA KRAS INS
21 rasopathy 29.5 PTEN PIK3CA KRAS INS FGFR1
22 wilms tumor 1 29.4 PTEN MIR483 MIR125A KRAS
23 lipid metabolism disorder 29.4 UCP1 SIRT1 PPARGC1A MIR483 LIPE INS
24 colonic benign neoplasm 29.4 PTEN PIK3CA KRAS INS
25 multiple endocrine neoplasia, type i 29.3 MIR483 MEN1 INS
26 peripheral nervous system disease 29.1 SIRT1 PTEN PPARGC1A MIR483 MIR125A MFN2
27 adrenal carcinoma 29.1 MIR483 MEN1 INS
28 lipid storage disease 29.1 SIRT1 PPARGC1A MIR483 INS
29 fatty liver disease 29.1 SIRT1 PPARGC1A LIPE INS
30 leukemia, acute myeloid 28.9 SIRT1 PTEN PIK3CA MIR483 MIR125A KRAS
31 skin disease 28.5 PTEN PIK3CA MIR483 MIR125A KRAS INS
32 body mass index quantitative trait locus 11 28.5 UCP1 SIRT1 PPARGC1A MIR483 MIR125A MFN2
33 osteoporosis 28.4 SIRT1 PTEN PPARGC1A MIR483 INS GSR
34 diabetes mellitus 28.2 UCP1 SIRT1 PTEN PPARGC1A MFN2 MEN1
35 pancreatic cancer 28.0 PTEN PIK3CA MIR483 MIR125A MEN1 KRAS
36 hypertension, essential 27.9 UCP1 SIRT1 PPARGC1A MIR483 MIR125A MEN1
37 pelvic lipomatosis 11.6
38 facial infiltrating lipomatosis 11.6
39 roch-leri mesosomatous lipomatosis 11.4
40 hemihyperplasia-multiple lipomatosis syndrome 11.4
41 segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome 11.3
42 mediastinal lipomatosis 11.3
43 pierpont syndrome 11.3
44 shwachman-diamond syndrome 1 11.2
45 steroid lipomatosis 11.1
46 pancreatic lipomatosis duodenal stenosis 11.1
47 cowden syndrome 1 11.0
48 pelvic lipomatosis with crossed renal ectopia 10.9
49 stiff skin syndrome 10.9
50 maturity-onset diabetes of the young, type 8, with exocrine dysfunction 10.9

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 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.35 CEL FGFR1 HMGA2 IL13 INS KRAS
2 growth/size/body region MP:0005378 10.33 CEL FGFR1 GSR HMGA2 IL13 INS
3 nervous system MP:0003631 10.29 FGFR1 HMGA2 IL13 INS KRAS MEN1
4 muscle MP:0005369 10.26 FGFR1 IL13 INS KRAS LIPE MEN1
5 normal MP:0002873 10.22 FGFR1 GSR INS KRAS MEN1 MFN2
6 endocrine/exocrine gland MP:0005379 10.21 FGFR1 HMGA2 IL13 INS KRAS LIPE
7 renal/urinary system MP:0005367 10.19 FGFR1 GSR HMGA2 INS KRAS LIPE
8 digestive/alimentary MP:0005381 10.18 CEL FGFR1 HMGA2 IL13 INS KRAS
9 cellular MP:0005384 10.18 FGFR1 HMGA2 IL13 INS KRAS LIPE
10 no phenotypic analysis MP:0003012 10.16 CAPSL FGFR1 IL13 INS KRAS PIK3CA
11 adipose tissue MP:0005375 10.15 CEL HMGA2 INS LIPE PIK3CA PPARGC1A
12 neoplasm MP:0002006 10.12 HMGA2 KRAS MEN1 PIK3CA PPARGC1A PTEN
13 liver/biliary system MP:0005370 10.11 CEL INS KRAS LIPE MEN1 PPARGC1A
14 cardiovascular system MP:0005385 10.1 FGFR1 GSR INS KRAS LIPE MEN1
15 immune system MP:0005387 10.03 FGFR1 GSR IL13 INS KRAS MEN1
16 reproductive system MP:0005389 9.93 FGFR1 HMGA2 IL13 INS KRAS LIPE
17 skeleton MP:0005390 9.73 FGFR1 HMGA2 IL13 INS KRAS LIPE
18 integument MP:0010771 9.32 FGFR1 GSR HMGA2 IL13 INS KRAS

Drugs & Therapeutics for Lipomatosis

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 succinate Approved Phase 3 2203-97-6 3643
2
Hydrocortisone acetate Approved, Vet_approved Phase 3 50-03-3
3
Hydrocortisone Approved, Vet_approved Phase 3 50-23-7 3640 5754
4 Anti-Inflammatory Agents Phase 3
5 Hydrocortisone 17-butyrate 21-propionate Phase 3
6
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
7
Tannic acid Approved 1401-55-4 16129878 16129778

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 Evaluation of Safety and Efficiency of Metreleptin Treatment for Patients With Multiple Symmetric Lipomatosis (MSL) Not yet recruiting NCT05351164 Phase 1 Metreleptin
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 Identification of Mutations Responsible for Rare Familial Skin Diseases by Next Generation Sequencing Unknown status NCT02509650
5 Spinal Epidural Lipomatosis: a Case Report and Review of the Literature Completed NCT04622501
6 Prospective Study on the Consequences of Weight Loss After Bariatric Surgery on Obese Patients' Spine : Effects on Low Back Pain, Sagittal Alignment and Lipomatosis. Recruiting NCT04893954
7 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

Genetic Tests for Lipomatosis

Anatomical Context for Lipomatosis

Organs/tissues related to Lipomatosis:

MalaCards : Skin, Spinal Cord, Small Intestine, Salivary Gland, Pancreas, Tongue, Thyroid

Publications for Lipomatosis

Articles related to Lipomatosis:

(show top 50) (show all 2447)
# Title Authors PMID Year
1
Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity. 53 62
17392703 2007
2
PTEN regulates phospholipase D and phospholipase C. 53 62
17405772 2007
3
Protean PTEN: form and function. 53 62
11875759 2002
4
A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association. 53 62
11748304 2001
5
Role of the high mobility group A proteins in human lipomas. 53 62
11576996 2001
6
Multiple lipomas linked to an RB1 gene mutation in a large pedigree with low penetrance retinoblastoma. 53 62
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. 53 62
11427729 2001
8
Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis. 53 62
10749983 2000
9
The expression of a truncated HMGI-C gene induces gigantism associated with lipomatosis. 53 62
10519386 1999
10
The role of PTEN, a phosphatase gene, in inherited and sporadic nonmedullary thyroid tumors. 53 62
10548886 1999
11
Lipomatous hypertrophy of the interatrial septum: A potential pitfall resolved on comparing previous PET/CT. 62
36340220 2023
12
Alpelisib for the treatment of PIK3CA-related head and neck lymphatic malformations and overgrowth. 62
36066547 2022
13
Etiologies and Outcomes of Spinal Epidural Lipomatosis: Systematic Review of the Literature and Meta-Analysis of Reported Cases. 62
35552292 2022
14
Stromal transdifferentiation drives lipomatosis and induces extensive vascular remodeling in the aging human lymph node. 62
36367235 2022
15
Congenital difference of the hand and foot: Pediatric macrodactyly. 62
36175329 2022
16
PRDM10 directs FLCN expression in a novel disorder overlapping with Birt-Hogg-Dubé syndrome and familial lipomatosis. 62
36440963 2022
17
A primary DICER1-sarcoma with KRAS and TP53 mutations in a child with suspected ECCL. 62
35668302 2022
18
Commentary: Extensive Symptomatic Thoracolumbar Epidural Lipomatosis Treated With Minimally Invasive Hemilaminectomies: Technical Case Report. 62
36103328 2022
19
Robotic Local Fat Extirpation and Ureteric Reimplantation for Pelvic Lipomatosis with Ureteric Obstruction: Technical Considerations. 62
36197145 2022
20
Extensive Symptomatic Thoracolumbar Epidural Lipomatosis Treated With Minimally Invasive Hemilaminectomies: Technical Case Report. 62
35972109 2022
21
Clinical and radiological characteristics of spinal epidural lipomatosis: A retrospective review of 90 consecutive patients. 62
36035782 2022
22
Lipofibromatous hamartoma of sciatic nerve: A case report. 62
36147102 2022
23
Spinal epidural lipomatosis and focal posterior longitudinal ligament hypertrophy causing severe cauda equina crowding. 62
36180104 2022
24
Is There any Link between Madelung Disease and Ischemic Stroke? A Case Report. 62
36352631 2022
25
Spinal Melorheostosis Associated with Intradural Fibrous Band and Extensive Lipomatosis Causing Thoracic Cord Tethering and Myelomalacia: A Unique Case Highlighting Importance of MRI in Management. 62
36177288 2022
26
A rare case of huge intrathoracic lipomatosis filling the right pleural cavity removed by open thoracic surgery: A case report. 62
36067533 2022
27
Trigeminal Neuralgia Due to Root Entry Zone Lipomatosis: 2-Dimensional Operative Video. 62
35838464 2022
28
Pelvic lipomatosis and ureteral reimplantation: A case report and literature review. 62
36055886 2022
29
Brachial plexus lipomatosis with perineurial pseudoonion bulb formation: Result of a mosaic PIK3CA mutation in the para-axial mesoderm state. 62
35224812 2022
30
Spinal Epidural Lipomatosis Causing Lumbar Canal Stenosis: A Pictorial Essay on Radiological Grading and the Role of Bariatric Surgery Versus Laminectomy. 62
35919217 2022
31
Spinal epidural and synovial lipomatosis in a 3-year-old Eurasian dog receiving sustained steroid therapy. 62
35732060 2022
32
Undergrowth Of First Toe In PiK3CA-Related Overgrowth Spectrum (PROS). 62
35878698 2022
33
Steroid-induced spinal epidural lipomatosis in a patient with myasthenia gravis. 62
35482159 2022
34
Toe Macrodactyly, Macrodystrophia Lipomatosa, Fibrolipomatous Hamartoma and Lipomatosis of Nerve. Are they similar?: A Case Report. 62
35992986 2022
35
Upper Eyelid and Orbital Involvement in Congenital Infiltrating Lipomatosis. 62
35856428 2022
36
Novel Technique for Obtaining Aesthetic Results in Multiple Lipomatosis Surgery. 62
35813105 2022
37
Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients. 62
35445792 2022
38
Ileo-colic lipomatosis complicated by cecum perforation and mimicking acute appendicitis: a case report. 62
35765930 2022
39
Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome: sarcomatous transformation. 62
34282871 2022
40
Nevus Lipomatosis Deemed Suspicious by Airport Security. 62
35960979 2022
41
[A case of acute pulmonary infarction after second operation for benign symmetric lipomatosis]. 62
35725318 2022
42
Ultrasound and MR imaging of peripheral nerve tumors: the state of the art. 62
35713690 2022
43
Cortical Dysplasia with Associated Lipomatosis-A Rare Cause of Seizures. 62
35864707 2022
44
Renal Replacement Lipomatosis: A Rare and Often Ignored Entity. 62
35677945 2022
45
Underreporting of spinal epidural lipomatosis: A retrospective analysis of lumbosacral MRI examinations from different radiological settings. 62
35042669 2022
46
Acute Spinal Cord Injury Due to Epidural Lipomatosis Without Osseous Injury. 62
35747013 2022
47
Identification of Codon 146 KRAS Variants in Isolated Epidermal Nevus and Multiple Lesions in Oculoectodermal Syndrome: Confirmation of the Phenotypic Continuum of Mosaic RASopathies. 62
35409398 2022
48
Bilateral symmetric lipomatosis of the orbit in Madelung's disease. 62
33243058 2022
49
Invited Response on: Adipose Tissue in Multiple Symmetric Lipomatosis Shows Features of Brown/Beige Fat. 62
34782912 2022
50
Adipose Tissue in Multiple Symmetric Lipomatosis Shows Features of Brown: Beige Fat. 62
34297172 2022

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 20)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.61 PTEN PPARGC1A PIK3CA LIPE KRAS INS
2 12.46 PTEN PPARGC1A PIK3CA INS FGFR1 CCL4
3
Show member pathways
12.27 PTEN PIK3CA KRAS FGFR1
4
Show member pathways
12.24 PIK3CA KRAS IL13 FGFR1
5
Show member pathways
12.04 PTEN PIK3CA KRAS FGFR1
6 11.88 UCP1 PPARGC1A LIPE INS
7
Show member pathways
11.82 PTEN PIK3CA KRAS
8 11.76 PTEN PIK3CA KRAS
9 11.72 UCP1 PPARGC1A INS
10
Show member pathways
11.71 SIRT1 PPARGC1A PIK3CA LIPE INS
11
Show member pathways
11.68 PIK3CA KRAS FGFR1
12 11.65 UCP1 SIRT1 PTEN PPARGC1A MFN2 LIPE
13 11.62 UCP1 PPARGC1A PIK3CA FGFR1
14
Show member pathways
11.58 PIK3CA KRAS FGFR1
15 11.49 PTEN PIK3CA KRAS FGFR1
16
Show member pathways
11.41 UCP1 PPARGC1A LIPE KRAS FGFR1
17 11.09 KRAS PIK3CA PTEN
18 10.79 SIRT1 PPARGC1A
19 10.45 SIRT1 PPARGC1A
20 10.38 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 gene expression GO:0010628 10.06 PPARGC1A MIR125A KRAS INS IL13 HMGA2
2 positive regulation of cold-induced thermogenesis GO:0120162 9.76 UCP1 PPARGC1A MFN2 IL13
3 energy homeostasis GO:0097009 9.73 SIRT1 PPARGC1A PIK3CA
4 negative regulation of NAD(P)H oxidase activity GO:0033861 9.26 INS IL13
5 negative regulation of cellular senescence GO:2000773 9.1 SIRT1 PTEN 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 9.26 LIPE CEL
2 retinyl-palmitate esterase activity GO:0050253 8.92 LIPE CEL

Sources for Lipomatosis

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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