MCID: LPM005
MIFTS: 48

Lipomatosis

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

Aliases & Classifications for Lipomatosis

MalaCards integrated aliases for Lipomatosis:

Name: Lipomatosis 12 52 42 14 69
Benign Symmetrical Lipomatosis 69

Classifications:



External Ids:

Disease Ontology 12 DOID:3153
ICD10 33 E88.2
MeSH 42 D008068
SNOMED-CT 64 37095002 402693001
UMLS 69 C0023801

Summaries for Lipomatosis

MalaCards based summary : Lipomatosis, also known as benign symmetrical lipomatosis, is related to mediastinal lipomatosis and encephalocraniocutaneous lipomatosis, and has symptoms including exanthema and pruritus. An important gene associated with Lipomatosis is FGFR1 (Fibroblast Growth Factor Receptor 1), and among its related pathways/superpathways are Regulation of lipid metabolism Insulin signaling-generic cascades and NFAT and Cardiac Hypertrophy. The drugs Busulfan and Fludarabine have been mentioned in the context of this disorder. Affiliated tissues include thyroid, spinal cord and tongue, and related phenotypes are cardiovascular system and cellular

Wikipedia : 72 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 203)
id Related Disease Score Top Affiliating Genes
1 mediastinal lipomatosis 33.5 HMGA2 SDHB
2 encephalocraniocutaneous lipomatosis 12.4
3 pelvic lipomatosis 12.3
4 lipomatosis, multiple 12.2
5 lipomatosis, multiple symmetric 12.2
6 roch-leri mesosomatous lipomatosis 12.1
7 hemihyperplasia-multiple lipomatosis syndrome 12.1
8 multiple symmetrical lipomatosis 11.9
9 diffuse lipomatosis 11.9
10 pancreatic lipomatosis duodenal stenosis 11.7
11 steroid lipomatosis 11.7
12 segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome 11.7
13 adiposis dolorosa 11.4
14 pierpont syndrome 11.3
15 shwachman-diamond syndrome 11.3
16 stiff skin syndrome 10.8
17 lipedematous scalp 10.7
18 mucopolysaccharidosis type iiic 10.6 FGFR1 HMGA2
19 liver lipoma 10.6 HMGA2 PTEN
20 fibroepithelial polyp of the anus 10.5 PIK3CA PTEN
21 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.5 HMGA2 PTEN
22 brenner tumor of the vagina 10.4 PIK3CA PTEN
23 brenner tumor of ovary 10.4 PIK3CA PTEN
24 split-hand/foot malformation 4 10.4 PIK3CA PTEN
25 cowden syndrome 6 10.3 PIK3CA PTEN
26 serous surface papilloma 10.3 HMGA2 SDHB
27 mononeuritis of upper limb and mononeuritis multiplex 10.3 MEN1 PRKAR1A
28 sifrim-hitz-weiss syndrome 10.3 MEN1 PRKAR1A
29 sarcosinemia 10.3 HMGA2 MEN1 PTEN
30 rectum kaposi's sarcoma 10.2 PIK3CA PTEN
31 extra-adrenal pheochromocytoma 10.2 PIK3CA PTEN
32 stiff-person syndrome 10.2 MFN2 UCP1
33 mediastinitis 10.2
34 osseous heteroplasia, progressive 10.2 MEN1 PRKAR1A
35 glomus tympanicum tumor 10.1 FGFR1 PIK3CA PTEN
36 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 10.1 MEN1 PIK3CA PTEN
37 myxedema 10.1 PIK3CA PTEN
38 scleredema adultorum 10.1 MFN2 UCP1
39 clear cell ependymoma 10.1 MEN1 PTEN
40 lymphoplasmacytic lymphoma 10.0 MEN1 PRKAR1A PTEN
41 obesity 10.0
42 pancreatitis 10.0
43 ataxia-oculomotor apraxia 3 10.0 MEN1 PRKAR1A
44 viral encephalitis 10.0 PIK3CA PTEN SDHB
45 thyroiditis 10.0
46 cystitis 9.9
47 sporadic hemiplegic migraine 9.9 MEN1 PRKAR1A SDHB
48 pyelonephritis 9.8
49 xanthogranulomatous pyelonephritis 9.8
50 adenocarcinoma 9.8

Graphical network of the top 20 diseases related to Lipomatosis:



Diseases related to Lipomatosis

Symptoms & Phenotypes for Lipomatosis

UMLS symptoms related to Lipomatosis:


exanthema, pruritus

MGI Mouse Phenotypes related to Lipomatosis:

44 (show all 11)
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.08 FGFR1 MEN1 MFN2 PIK3CA PPARGC1A PRKAR1A
2 cellular MP:0005384 10.06 FGFR1 MEN1 MFN2 PIK3CA PPARGC1A PRKAR1A
3 adipose tissue MP:0005375 9.97 CEL PIK3CA PPARGC1A PRKAR1A PTEN UCP1
4 growth/size/body region MP:0005378 9.97 CEL FGFR1 MEN1 MFN2 PIK3CA PPARGC1A
5 digestive/alimentary MP:0005381 9.91 CEL FGFR1 MEN1 PPARGC1A PRKAR1A PTEN
6 endocrine/exocrine gland MP:0005379 9.91 FGFR1 MEN1 PIK3CA PPARGC1A PRKAR1A PTEN
7 homeostasis/metabolism MP:0005376 9.91 CEL FGFR1 MEN1 MFN2 PIK3CA PPARGC1A
8 embryo MP:0005380 9.88 PRKAR1A PTEN FGFR1 MEN1 MFN2 PIK3CA
9 liver/biliary system MP:0005370 9.55 CEL MEN1 PPARGC1A PRKAR1A PTEN
10 muscle MP:0005369 9.5 FGFR1 MEN1 MFN2 PIK3CA PPARGC1A PRKAR1A
11 neoplasm MP:0002006 9.1 MEN1 PIK3CA PPARGC1A PRKAR1A PTEN SDHB

Drugs & Therapeutics for Lipomatosis

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

(show all 41)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Busulfan Approved, Investigational Phase 2, Phase 3, Early Phase 1 55-98-1 2478
2
Fludarabine Approved Phase 2, Phase 3, Early Phase 1 21679-14-1, 75607-67-9 30751
3
Vidarabine Approved Phase 2, Phase 3 24356-66-9 32326 21704
4
alemtuzumab Approved, Investigational Phase 2, Phase 3,Early Phase 1 216503-57-0
5
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
6
Lenograstim Approved Phase 2, Phase 3 135968-09-1
7 Alkylating Agents Phase 2, Phase 3
8 Anti-Infective Agents Phase 2, Phase 3
9 Antilymphocyte Serum Phase 2, Phase 3
10 Antimetabolites Phase 2, Phase 3
11 Antimetabolites, Antineoplastic Phase 2, Phase 3
12 Antiviral Agents Phase 2, Phase 3
13 Immunosuppressive Agents Phase 2, Phase 3, Phase 1
14 Antirheumatic Agents Phase 2, Phase 3,Phase 1
15 Adjuvants, Immunologic Phase 2, Phase 3
16
Melphalan Approved Phase 2,Early Phase 1 148-82-3 4053 460612
17
Mycophenolate mofetil Approved, Investigational Phase 2,Phase 1 128794-94-5 5281078
18
Mycophenolic acid Approved Phase 2,Phase 1 24280-93-1 446541
19
Mechlorethamine Approved Phase 2 51-75-2 4033
20
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
21
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492
22
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
23
leucovorin Approved, Nutraceutical Phase 2 58-05-9 143 6006
24 Anti-Bacterial Agents Phase 2
25 Antibiotics, Antitubercular Phase 2
26 Calcineurin Inhibitors Phase 2
27 Dermatologic Agents Phase 2
28 Folic Acid Antagonists Phase 2
29 Nucleic Acid Synthesis Inhibitors Phase 2
30 Vidarabine Phosphate Phase 2
31 Vitamin B Complex Phase 2
32 Folate Nutraceutical Phase 2
33 phenylalanine Nutraceutical Phase 2
34 Vitamin B9 Nutraceutical Phase 2
35
Abatacept Approved Phase 1 332348-12-6 10237
36 Cyclosporins Phase 1
37
Pancrelipase Approved 53608-75-6
38
Iron Approved 7439-89-6 23925
39 pancreatin
40 Analgesics
41 Vaccines Early Phase 1

Interventional clinical trials:

(show all 11)

id Name Status NCT ID Phase Drugs
1 Stem Cell Transplant for Bone Marrow Failure Syndromes Completed NCT00176878 Phase 2, Phase 3 Fludarabine monophosphate;Busulfan
2 Stem Cell Transplant for Hemoglobinopathy Active, not recruiting NCT00176852 Phase 2, Phase 3 Busulfan, Fludarabine, ATG, TLI;Busulfan, Cyclophosphamide, ATG, GCSF;Campath, Fludarabine, Cyclophosphamide
3 Fludarabine Phosphate, Melphalan, and Low-Dose Total-Body Irradiation Followed by Donor Peripheral Blood Stem Cell Transplant in Treating Patients With Hematologic Malignancies Active, not recruiting NCT01529827 Phase 2 fludarabine phosphate;melphalan;tacrolimus;mycophenolate mofetil;methotrexate
4 BMT Abatacept for Non-Malignant Diseases Recruiting NCT01917708 Phase 1 Abatacept
5 Assessing Immune Function in Young Patients With Cytopenia That Did Not Respond to Treatment Completed NCT00499070
6 Identification of Mutations Responsible for Rare Familial Skin Diseases by Next Generation Sequencing Recruiting NCT02509650
7 Insight Into Subcutaneous Adipose Tissue Disorders Recruiting NCT02838277
8 Predictors of Decompressive Laminectomy Outcomes Recruiting NCT02215551
9 Hematopoietic Stem Cell Transplant for High Risk Hemoglobinopathies Recruiting NCT02179359 Reduced Toxicity Ablative Regimen;Reduced Intensity Preparative Regimen;Myeloablative Preparative Regimen
10 CD34+ (Non-Malignant) Stem Cell Selection for Patients Receiving Allogeneic Stem Cell Transplantation Recruiting NCT01966367 Early Phase 1
11 Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation Terminated NCT01319851 Alefacept

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:

39
Thyroid, Spinal Cord, Tongue, Kidney, Skin, Bone, Colon

Publications for Lipomatosis

Articles related to Lipomatosis:

(show top 50) (show all 824)
id Title Authors Year
1
Pleural and Mediastinal Lipomatosis with Subpleural Fat as a Mimicker of Pleural Effusion- A Rare Case Report. ( 28893005 )
2017
2
Multiple symmetric lipomatosis and gynecomastia: A case report and relative literature review. ( 28438575 )
2017
3
Urodynamic characteristics of pelvic lipomatosis with glandular cystitis patients correlate with morphologic alterations of the urinary system and disease severity. ( 28763116 )
2017
4
Results of Arthroscopic Synovectomy for Treatment of Synovial Lipomatosis (Lipoma Arborescens) of the Knee. ( 28738431 )
2017
5
Encephalocraniocutaneous lipomatosis with Wilms' tumor. ( 28612492 )
2017
6
Encephalocraniocutaneous lipomatosis: A case report with review of literature. ( 28707961 )
2017
7
Rare diagnosis of intestinal lipomatosis complicated by intussusception in an adult: A case report. ( 28898799 )
2017
8
Partial Encephalocraniocutaneous Lipomatosis Syndrome. ( 28553398 )
2017
9
Multiple symmetric lipomatosis. ( 28680030 )
2017
10
Pancreatic lipomatosis in cystic fibrosis: Rare manifestation of an uncommon disease. ( 28580220 )
2017
11
Somatic PIK3CA mutations are present in multiple tissues of facial infiltrating lipomatosis. ( 28665924 )
2017
12
Congenital Infiltrating Lipomatosis of the Face: Case Report and Literature Review. ( 28846548 )
2017
13
'The dark pancreas': classic CT appearance of total pancreatic lipomatosis. ( 28536225 )
2017
14
Communicating Fistula Between Colocutan and Nephrocutan With Renal Stones and Renal Replacement Lipomatosis. A Case Report. ( 28083471 )
2017
15
Obesity and spinal epidural lipomatosis in cauda equina syndrome. ( 28756300 )
2017
16
Profiling of differentially expressed genes in adipose tissues of multiple symmetric lipomatosis. ( 28901441 )
2017
17
Spinal cord compression secondary to idiopathic thoracic epidural lipomatosis in an adolescent: A case report and review of literature. ( 28710985 )
2017
18
Unexpected transesophageal echocardiography tee finding: mediastinal lipomatosis fakes an aortic intramural haematoma. ( 28275569 )
2017
19
Multimodality imaging of a rare case of cardiac lipomatosis. ( 27679604 )
2017
20
Multiple Symmetric Lipomatosis. ( 28643398 )
2017
21
Spinal epidural lipomatosis - an easily ignored secondary intraspinal disorder in spinal kyphotic deformities. ( 28302104 )
2017
22
Homozygous LIPE mutation in siblings with multiple symmetric lipomatosis, partial lipodystrophy, and myopathy. ( 27862896 )
2017
23
Hereditary Multiple Cerebral Cavernous Malformations Associated with Wilson Disease and Multiple Lipomatosis. ( 28602929 )
2017
24
Massive Renal Replacement Lipomatosis With Foci of Xanthogranulomatous Pyelonephritis in a Horseshoe Kidney. ( 28443241 )
2017
25
Scoliosis associated with idiopathic lumbosacral epidural lipomatosis. ( 27683700 )
2016
26
Synovial Lipomatosis of the Glenohumeral Joint. ( 27563476 )
2016
27
Unusual Spinal Epidural Lipomatosis and Lumbosacral Instability. ( 27069704 )
2016
28
An unusual case of spinal cord compression from concomitant spinal epidural lipomatosis and Hodgkin's lymphoma. ( 26962199 )
2016
29
Septectomy and biatrial resection for extensive septal lipomatosis. ( 27679421 )
2016
30
Potential Involvement of Obesity-associated Chronic Inflammation in the Pathogenesis of Idiopathic Spinal Epidural Lipomatosis. ( 27105459 )
2016
31
Mediastinal Lipomatosis with Dyslipidemia: Cause of Dyspnea. ( 27805346 )
2016
32
Patient-reported outcome of surgical treatment for lumbar spinal epidural lipomatosis. ( 27363757 )
2016
33
Thyroid lipomatosis in a 36-year-old patient with rheumatoid arthritis and a kidney transplant. ( 27252862 )
2016
34
Pelvic lipomatosis. ( 27418096 )
2016
35
Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis. ( 26970110 )
2016
36
Nevus Lipomatosis Cutaneous Superficialis - A clinicopathologic study of the solitary type. ( 26900226 )
2016
37
Symmetric Lipomatosis Arising in the Tongue Presenting as Macroglossia and Articulatory Disorder. ( 27413566 )
2016
38
A case of gastroduodenal lipomatosis. ( 27551904 )
2016
39
Infiltrating lipomatosis of the face: case series and literature review. ( 28057454 )
2016
40
Subcutaneous Nodules in a Kidney Transplant Recipient: Familial Multiple Lipomatosis. ( 27206607 )
2016
41
Value of Multimode Sonography for Assessment of Pelvic Lipomatosis Compared With Computed Tomography. ( 27091913 )
2016
42
A rare case of dysembryoplastic neuroepithelial tumor combined with encephalocraniocutaneous lipomatosis and intractable seizures. ( 28018467 )
2016
43
A new pattern of lipomatosis of nerve: case report. ( 27153174 )
2016
44
Intraperitoneal lipomatosis: a rare clinicoradiological entity in a child. ( 27562906 )
2016
45
Encephalocraniocutaneous lipomatosis (Haberland syndrome): A rare case report. ( 27990391 )
2016
46
Poster 475 Acute Paraplegia Secondary to Spinal Epidural Lipomatosis in a Child with Obesity: A Case Report. ( 27673217 )
2016
47
Encephalocraniocutaneous lipomatosis (Haberland syndrome): A mild case with bilateral cutaneous and ocular involvement. ( 27222873 )
2016
48
Giant Lipomatosis of the Sciatic Nerve: Unique Magnetic Resonance Imaging Findings. ( 27679695 )
2016
49
Duodenal Lipomatosis as a Curious Cause of Upper Gastrointestinal Bleed: A Report with Review of Literature. ( 27437304 )
2016
50
Idiopathic Lumbar Epidural Lipomatosis Mimicking Disc Herniation: A Case Report. ( 27309484 )
2016

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:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.55 PIK3CA PPARGC1A PRKAR1A PTEN
2
Show member pathways
12.47 FGFR1 PIK3CA PRKAR1A PTEN
3 11.92 MFN2 PPARGC1A PTEN UCP1
4
Show member pathways
11.68 PIK3CA PRKAR1A PTEN
5
Show member pathways
11.47 PIK3CA PPARGC1A PTEN
6 10.98 FGFR1 PIK3CA
7 10.9 PPARGC1A PTEN
8 10.85 PIK3CA PTEN
9 10.61 FGFR1 PIK3CA PTEN
10 9.86 PPARGC1A UCP1

GO Terms for Lipomatosis

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

(show all 16)
id Name GO ID Score Top Affiliating Genes
1 angiogenesis GO:0001525 9.72 FGFR1 PIK3CA PTEN
2 phosphatidylinositol-mediated signaling GO:0048015 9.58 FGFR1 PIK3CA PTEN
3 chondrocyte differentiation GO:0002062 9.56 FGFR1 HMGA2
4 protein kinase B signaling GO:0043491 9.54 PIK3CA PTEN
5 positive regulation of sequence-specific DNA binding transcription factor activity GO:0051091 9.54 HMGA2 PPARGC1A PTEN
6 endothelial cell migration GO:0043542 9.52 PIK3CA PTEN
7 negative regulation of smooth muscle cell proliferation GO:0048662 9.51 MFN2 PPARGC1A
8 brown fat cell differentiation GO:0050873 9.49 PPARGC1A UCP1
9 adipose tissue development GO:0060612 9.48 PIK3CA PPARGC1A
10 cellular response to fatty acid GO:0071398 9.46 PPARGC1A UCP1
11 respiratory electron transport chain GO:0022904 9.43 PPARGC1A SDHB
12 negative regulation of protein phosphorylation GO:0001933 9.33 MEN1 PPARGC1A PTEN
13 mesenchymal cell differentiation GO:0048762 9.32 FGFR1 HMGA2
14 negative regulation of receptor activity GO:2000272 9.26 PPARGC1A PTEN
15 adaptive thermogenesis GO:1990845 8.96 PPARGC1A UCP1
16 cellular response to glucose stimulus GO:0071333 8.8 MEN1 PIK3CA PPARGC1A

Sources for Lipomatosis

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
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