MCID: LPM005
MIFTS: 47

Lipomatosis malady

Categories: Metabolic diseases, Skin diseases

Aliases & Classifications for Lipomatosis

Aliases & Descriptions 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 pelvic lipomatosis and pleomorphic lipoma, 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, tongue and kidney, and related phenotypes are cardiovascular system and cellular

Wikipedia : 71 Lipomatosis is believed to be an autosomal dominant condition in which multiple lipomas are present on... more...

Related Diseases for Lipomatosis

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

(show top 50) (show all 187)
id Related Disease Score Top Affiliating Genes
1 pelvic lipomatosis 33.5 HMGA2 SDHB
2 pleomorphic lipoma 31.4 HMGA2 PTEN
3 encephalocraniocutaneous lipomatosis 12.3
4 lipomatosis, multiple symmetric 12.2
5 hemihyperplasia-multiple lipomatosis syndrome 12.1
6 lipoma 12.0
7 multiple symmetrical lipomatosis 12.0
8 mediastinal lipomatosis 11.9
9 diffuse lipomatosis 11.9
10 roch-leri mesosomatous lipomatosis 11.9
11 pancreatic lipomatosis duodenal stenosis 11.8
12 steroid lipomatosis 11.7
13 segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome 11.7
14 adiposis dolorosa 11.4
15 shwachman-diamond syndrome 11.3
16 pierpont syndrome 11.2
17 stiff skin syndrome 10.8
18 lipedematous scalp 10.7
19 larsen-like syndrome, lethal type 10.3 FGFR1 HMGA2
20 mycobacterium tuberculosis, susceptibility to mycobacterium tuberculosis, protection against, included 10.2 MFN2 UCP1
21 mediastinitis 10.2
22 uterine corpus choriocarcinoma 10.2 PIK3CA PTEN
23 multiple mitochondrial dysfunctions syndrome 1 10.2 HMGA2 PTEN
24 adult syndrome 10.1 PIK3CA PTEN
25 uterine disease 10.1 HMGA2 PIK3CA
26 mucinoses 10.1 MFN2 UCP1
27 uterine ligament cancer 10.0 MEN1 PRKAR1A
28 melanoma, cutaneous malignant, 6 10.0 PIK3CA PTEN
29 bowen-conradi syndrome 10.0 MEN1 PRKAR1A
30 obesity 10.0
31 muscular dystrophy-dystroglycanopathy , type a, 10 10.0 MEN1 PIK3CA PTEN
32 serous surface papilloma 10.0 HMGA2 SDHB
33 thyroiditis 10.0
34 pancreatitis 10.0
35 t-cell large granular lymphocyte leukemia 9.9 MEN1 PRKAR1A PTEN
36 cystitis 9.9
37 glioma susceptibility 2 9.9 PIK3CA PTEN SDHB
38 childhood teratocarcinoma of the testis 9.9 PIK3CA PTEN SDHB
39 cowden syndrome 3 9.9 MEN1 SDHB
40 adenocarcinoma 9.8
41 osseous heteroplasia, progressive 9.8 MEN1 PRKAR1A
42 lymphoma 9.8
43 neuropathy 9.8
44 pyelonephritis 9.8
45 xanthogranulomatous pyelonephritis 9.8
46 ureteral obstruction 9.8
47 cauda equina syndrome 9.8
48 paraplegia 9.8
49 hemimegalencephaly 9.8
50 intussusception 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 12)
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.1 PTEN SDHB FGFR1 MEN1 MFN2 PIK3CA
2 cellular MP:0005384 10.08 FGFR1 MEN1 MFN2 PIK3CA PPARGC1A PRKAR1A
3 growth/size/body region MP:0005378 10.02 CEL FGFR1 MEN1 MFN2 PIK3CA PPARGC1A
4 adipose tissue MP:0005375 9.99 CEL PIK3CA PPARGC1A PRKAR1A PTEN UCP1
5 homeostasis/metabolism MP:0005376 9.97 PTEN UCP1 PIK3CA PPARGC1A PRKAR1A CEL
6 endocrine/exocrine gland MP:0005379 9.95 FGFR1 MEN1 PIK3CA PPARGC1A PRKAR1A PTEN
7 digestive/alimentary MP:0005381 9.93 CEL FGFR1 MEN1 PPARGC1A PRKAR1A PTEN
8 embryo MP:0005380 9.91 FGFR1 MEN1 MFN2 PIK3CA PRKAR1A PTEN
9 muscle MP:0005369 9.7 FGFR1 MEN1 MFN2 PIK3CA PPARGC1A PRKAR1A
10 liver/biliary system MP:0005370 9.65 CEL MEN1 PPARGC1A PRKAR1A PTEN
11 neoplasm MP:0002006 9.43 MEN1 PIK3CA PPARGC1A PRKAR1A PTEN SDHB
12 reproductive system MP:0005389 9.1 PRKAR1A PTEN FGFR1 MEN1 PIK3CA PPARGC1A

Drugs & Therapeutics for Lipomatosis

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

(show all 42)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
2
Fludarabine Approved Phase 2, Phase 3 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 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 Antineoplastic Agents, Alkylating Phase 2, Phase 3
13 Antiviral Agents Phase 2, Phase 3
14 Immunosuppressive Agents Phase 2, Phase 3, Phase 1
15 Antirheumatic Agents Phase 2, Phase 3,Phase 1
16 Adjuvants, Immunologic Phase 2, Phase 3
17
Melphalan Approved Phase 2 148-82-3 4053 460612
18
Mycophenolate mofetil Approved, Investigational Phase 2,Phase 1 128794-94-5 5281078
19
Mycophenolic acid Approved Phase 2,Phase 1 24280-93-1 446541
20
Mechlorethamine Approved Phase 2 51-75-2 4033
21
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
22
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492
23
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
24
leucovorin Approved, Nutraceutical Phase 2 58-05-9 54575, 6560146 143
25 Anti-Bacterial Agents Phase 2
26 Antibiotics, Antitubercular Phase 2
27 Calcineurin Inhibitors Phase 2
28 Dermatologic Agents Phase 2
29 Folic Acid Antagonists Phase 2
30 Nucleic Acid Synthesis Inhibitors Phase 2
31 Vidarabine Phosphate Phase 2
32 Vitamin B Complex Phase 2
33 Folate Nutraceutical Phase 2
34 phenylalanine Nutraceutical Phase 2
35 Vitamin B9 Nutraceutical Phase 2
36
Abatacept Approved Phase 1 332348-12-6 10237
37
Cyclosporine Approved, Investigational, Vet_approved Phase 1 79217-60-0, 59865-13-3 5284373 6435893
38
Pancrelipase Approved 53608-75-6
39
Iron Approved 7439-89-6 23925
40 pancreatin
41 Analgesics
42 Vaccines

Interventional clinical trials:

(show all 11)
id Name Status NCT ID Phase
1 Stem Cell Transplant for Bone Marrow Failure Syndromes Completed NCT00176878 Phase 2, Phase 3
2 Stem Cell Transplant for Hemoglobinopathy Active, not recruiting NCT00176852 Phase 2, Phase 3
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
4 BMT Abatacept for Non-Malignant Diseases Recruiting NCT01917708 Phase 1
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
10 CD34+ Stem Cell Selection for Patients Receiving Allogeneic Stem Cell Transplantation for Non-Malignant Disease Recruiting NCT01966367
11 Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation Terminated NCT01319851

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, Tongue, Kidney, Spinal Cord, Colon, Skin, Adipocyte

Publications for Lipomatosis

Articles related to Lipomatosis:

(show top 50) (show all 801)
id Title Authors Year
1
Homozygous LIPE mutation in siblings with multiple symmetric lipomatosis, partial lipodystrophy, and myopathy. ( 27862896 )
2017
2
Communicating Fistula Between Colocutan and Nephrocutan With Renal Stones and Renal Replacement Lipomatosis. A Case Report. ( 28083471 )
2017
3
Multimodality imaging of a rare case of cardiac lipomatosis. ( 27679604 )
2017
4
Synovial lipomatosis of the metatarsophalangeal joint: A case report. ( 26998135 )
2016
5
Patient-reported outcome of surgical treatment for lumbar spinal epidural lipomatosis. ( 27363757 )
2016
6
Tip of an Iceberg: Skull Fracture as an Adult Presentation of Encephalocraniocutaneous Lipomatosis. ( 27882255 )
2016
7
Multiple symmetric lipomatosis with spindle cell proliferation. ( 26922721 )
2016
8
Rare Case of Retroperitoneal Lipomatosis in an Indian Woman. ( 27200169 )
2016
9
CT and MR imaging features of diffuse lipomatosis of the abdomen. ( 27138071 )
2016
10
Unusual Spinal Epidural Lipomatosis and Lumbosacral Instability. ( 27069704 )
2016
11
Diffuse lipomatosis and amyloid deposition of the thyroid gland associated with poorly differentiated/insular carcinoma of the thyroid: Report of a rare entity. ( 27773124 )
2016
12
Potential Involvement of Obesity-associated Chronic Inflammation in the Pathogenesis of Idiopathic Spinal Epidural Lipomatosis. ( 27105459 )
2016
13
Infiltrating lipomatosis of the face: case series and literature review. ( 28057454 )
2016
14
Central nervous system involvement in multiple symmetric lipomatosis. ( 27772774 )
2016
15
Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis. ( 26970110 )
2016
16
Mediastinal Lipomatosis with Dyslipidemia: Cause of Dyspnea. ( 27805346 )
2016
17
A new pattern of lipomatosis of nerve: case report. ( 27153174 )
2016
18
Encephalocraniocutaneous Lipomatosis Without OcularA Malformations. ( 27131628 )
2016
19
A rare case of familial multiple subcutaneous lipomatosis with novel PALB2 mutation and increased predilection to cancers. ( 26845227 )
2016
20
Poster 475 Acute Paraplegia Secondary to Spinal Epidural Lipomatosis in a Child with Obesity: A Case Report. ( 27673217 )
2016
21
Obscure gastrointestinal bleeding caused by intestinal lipomatosis: double-balloon endoscopic and laparoscopic views. ( 26890544 )
2016
22
An unusual case of spinal cord compression from concomitant spinal epidural lipomatosis and Hodgkin's lymphoma. ( 26962199 )
2016
23
Duodenal Lipomatosis as a Curious Cause of Upper Gastrointestinal Bleed: A Report with Review of Literature. ( 27437304 )
2016
24
Symmetric Lipomatosis Arising in the Tongue Presenting as Macroglossia and Articulatory Disorder. ( 27413566 )
2016
25
Encephalocraniocutaneous lipomatosis (Fishman syndrome): A rare neurocutaneous syndrome. ( 27579462 )
2016
26
Pelvic lipomatosis. ( 27418096 )
2016
27
Lumbosacral Epidural Lipomatosis: a Retrospective Matched Case-Control Database Study. ( 27609448 )
2016
28
Thyroid lipomatosis in a 36-year-old patient with rheumatoid arthritis and a kidney transplant. ( 27252862 )
2016
29
Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis. ( 26942290 )
2016
30
Encephalocraniocutaneous lipomatosis (Haberland syndrome): A mild case with bilateral cutaneous and ocular involvement. ( 27222873 )
2016
31
Idiopathic Lumbar Epidural Lipomatosis Mimicking Disc Herniation: A Case Report. ( 27309484 )
2016
32
Giant Lipomatosis of the Sciatic Nerve: Unique Magnetic Resonance Imaging Findings. ( 27679695 )
2016
33
Nevus Lipomatosis Cutaneous Superficialis - A clinicopathologic study of the solitary type. ( 26900226 )
2016
34
A case of gastroduodenal lipomatosis. ( 27551904 )
2016
35
Demographic Characteristics, Anatomical Distribution, and Clinical Presentations of Lipomatosis Tumors Arising from Hand and Wrist. ( 27999457 )
2016
36
Scoliosis associated with idiopathic lumbosacral epidural lipomatosis. ( 27683700 )
2016
37
Synovial Lipomatosis of the Glenohumeral Joint. ( 27563476 )
2016
38
Intestinal Lipomatosis and Chemotherapy: A Growing Concern. ( 27718083 )
2016
39
Subcutaneous Nodules in a Kidney Transplant Recipient: Familial Multiple Lipomatosis. ( 27206607 )
2016
40
Intraperitoneal lipomatosis: a rare clinicoradiological entity in a child. ( 27562906 )
2016
41
Value of Multimode Sonography for Assessment of Pelvic Lipomatosis Compared With Computed Tomography. ( 27091913 )
2016
42
A case of symmetrical lipomatosis of the tongue presenting as macroglossia. ( 27427539 )
2016
43
Gastroduodenal Lipomatosis in the Familial Multiple Lipomatosis. ( 27884011 )
2016
44
A rare case of dysembryoplastic neuroepithelial tumor combined with encephalocraniocutaneous lipomatosis and intractable seizures. ( 28018467 )
2016
45
Idiopathic Spinal Epidural Lipomatosis in the Lumbar Spine. ( 27018608 )
2016
46
Septectomy and biatrial resection for extensive septal lipomatosis. ( 27679421 )
2016
47
Transcription Profile in Sporadic Multiple Symmetric Lipomatosis Reveals Differential Expression at the Level of Adipose Tissue-Derived Stem Cells. ( 27018673 )
2016
48
Chronic pancreatitis and lipomatosis are associated with defective function of ciliary genes in pancreatic ductal cells. ( 27798096 )
2016
49
Increased homozygosity in the first Hispanic patient with plantar lipomatosis, unusual facies, and developmental delay (Pierpont syndrome): a case report. ( 27520388 )
2016
50
Encephalocraniocutaneous lipomatosis (Haberland syndrome): A rare case report. ( 27990391 )
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 15)
id Name GO ID Score Top Affiliating Genes
1 angiogenesis GO:0001525 9.72 FGFR1 PIK3CA PTEN
2 phosphatidylinositol-mediated signaling GO:0048015 9.61 FGFR1 PIK3CA PTEN
3 positive regulation of sequence-specific DNA binding transcription factor activity GO:0051091 9.58 HMGA2 PPARGC1A PTEN
4 protein kinase B signaling GO:0043491 9.54 PIK3CA PTEN
5 brown fat cell differentiation GO:0050873 9.52 PPARGC1A UCP1
6 endothelial cell migration GO:0043542 9.51 PIK3CA PTEN
7 negative regulation of smooth muscle cell proliferation GO:0048662 9.49 MFN2 PPARGC1A
8 cellular response to fatty acid GO:0071398 9.48 PPARGC1A UCP1
9 respiratory electron transport chain GO:0022904 9.46 PPARGC1A SDHB
10 negative regulation of protein phosphorylation GO:0001933 9.43 MEN1 PPARGC1A PTEN
11 mesenchymal cell differentiation GO:0048762 9.37 FGFR1 HMGA2
12 negative regulation of receptor activity GO:2000272 9.32 PPARGC1A PTEN
13 adaptive thermogenesis GO:1990845 9.16 PPARGC1A UCP1
14 cellular response to glucose stimulus GO:0071333 9.13 MEN1 PIK3CA PPARGC1A
15 adipose tissue development GO:0060612 8.8 HMGA2 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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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