MCID: LPM005
MIFTS: 50

Lipomatosis

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

Aliases & Classifications for Lipomatosis

MalaCards integrated aliases for Lipomatosis:

Name: Lipomatosis 12 51 41 14 69
Benign Symmetrical Lipomatosis 69

Classifications:



External Ids:

Disease Ontology 12 DOID:3153
ICD10 32 E88.2
MeSH 41 D008068
SNOMED-CT 64 37095002 402693001

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 Regulation of lipid metabolism Insulin signaling-generic cascades and Glucose / Energy Metabolism. The drugs Busulfan and Fludarabine have been mentioned in the context of this disorder. Affiliated tissues include thyroid, tongue and spinal cord, 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 238)
# Related Disease Score Top Affiliating Genes
1 encephalocraniocutaneous lipomatosis 34.3 FGFR1 HMGA2
2 lipomatosis, multiple 33.9 HMGA2 MEN1 PTEN
3 diffuse lipomatosis 33.4 HMGA2 SDHB
4 lipomatosis, multiple symmetric 33.1 LIPE MFN2 UCP1
5 multiple symmetrical lipomatosis 32.9 MFN2 UCP1
6 proteus syndrome 30.2 PIK3CA PTEN
7 cowden disease 29.5 PIK3CA PTEN SDHB
8 lentigines 29.4 MEN1 PRKAR1A
9 glioblastoma 29.1 FGFR1 PIK3CA PTEN
10 multiple endocrine neoplasia 28.9 MEN1 PRKAR1A SDHB
11 pelvic lipomatosis 12.4
12 roch-leri mesosomatous lipomatosis 12.2
13 hemihyperplasia-multiple lipomatosis syndrome 12.2
14 mediastinal lipomatosis 12.0
15 segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome 11.9
16 pancreatic lipomatosis duodenal stenosis 11.9
17 steroid lipomatosis 11.8
18 pelvic lipomatosis with crossed renal ectopia 11.8
19 adiposis dolorosa 11.5
20 pierpont syndrome 11.5
21 shwachman-diamond syndrome 11.4
22 stiff skin syndrome 10.9
23 pleomorphic lipoma 10.8
24 lipedematous scalp 10.8
25 skin lipoma 10.4 HMGA2 PTEN
26 thyroid hurthle cell adenoma 10.3 PIK3CA PTEN
27 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.3 HMGA2 PTEN
28 mediastinitis 10.3
29 tumor suppressor gene on chromosome 11 10.3 PIK3CA PTEN
30 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 10.2 PIK3CA PTEN
31 chondroma 10.2 HMGA2 SDHB
32 body mass index quantitative trait locus 11 10.1
33 body mass index quantitative trait locus 9 10.1
34 body mass index quantitative trait locus 8 10.1
35 body mass index quantitative trait locus 7 10.1
36 body mass index quantitative trait locus 12 10.1
37 body mass index quantitative trait locus 14 10.1
38 body mass index quantitative trait locus 18 10.1
39 pancreatitis 10.1
40 hormone producing pituitary cancer 10.1 MEN1 PRKAR1A
41 body mass index quantitative trait locus 4 10.1
42 body mass index quantitative trait locus 10 10.1
43 multiple endocrine neoplasia, type iv 10.1 MEN1 PRKAR1A
44 thyroiditis 10.0
45 ovarian clear cell carcinoma 10.0 PIK3CA PTEN
46 thyroid cancer, nonmedullary, 2 10.0 MEN1 PIK3CA PTEN
47 cystitis 10.0
48 episodic pain syndrome, familial, 1 10.0
49 pyelonephritis 9.9
50 xanthogranulomatous pyelonephritis 9.9

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:

43 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.1 SDHB PTEN PIK3CA LIPE PRKAR1A MEN1
2 cellular MP:0005384 10.08 PTEN UCP1 PRKAR1A PIK3CA LIPE MEN1
3 growth/size/body region MP:0005378 10.02 UCP1 PTEN PIK3CA LIPE PRKAR1A MEN1
4 homeostasis/metabolism MP:0005376 10.02 SDHB UCP1 PTEN PIK3CA LIPE PRKAR1A
5 adipose tissue MP:0005375 9.99 UCP1 PTEN PIK3CA LIPE PRKAR1A CEL
6 endocrine/exocrine gland MP:0005379 9.95 PTEN SDHB PRKAR1A PIK3CA LIPE MEN1
7 digestive/alimentary MP:0005381 9.93 PTEN PRKAR1A LIPE MEN1 CEL FGFR1
8 embryo MP:0005380 9.91 PTEN PRKAR1A FGFR1 PIK3CA MEN1 MFN2
9 muscle MP:0005369 9.7 PTEN PIK3CA LIPE PRKAR1A MEN1 FGFR1
10 liver/biliary system MP:0005370 9.65 PTEN PRKAR1A LIPE CEL MEN1
11 neoplasm MP:0002006 9.35 PTEN SDHB PRKAR1A PIK3CA MEN1
12 reproductive system MP:0005389 9.1 PTEN PRKAR1A FGFR1 PIK3CA LIPE MEN1

Drugs & Therapeutics for Lipomatosis

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

(show all 42)
# 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, Investigational Phase 2, Phase 3 24356-66-9 21704 32326
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, Investigational 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 460612 4053
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, Investigational 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 Vidarabine Phosphate Phase 2
25 Anti-Bacterial Agents Phase 2
26 Antibiotics, Antitubercular Phase 2
27 Antitubercular Agents Phase 2
28 Calcineurin Inhibitors Phase 2
29 Dermatologic Agents Phase 2
30 Folic Acid Antagonists Phase 2
31 Nucleic Acid Synthesis Inhibitors 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 Cyclosporins Phase 1
38
Pancrelipase Approved, Investigational 53608-75-6
39
Iron Approved 7439-89-6 23925
40 pancreatin
41 Analgesics
42 Vaccines Early Phase 1

Interventional clinical trials:

(show all 12)

# 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, Cyclophosphamide, Total Body Irradiation, and Donor Stem Cell Transplant in Treating Patients With Blood Cancer Recruiting NCT03333486 Phase 2 Cyclophosphamide;Fludarabine Phosphate
4 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
5 BMT Abatacept for Non-Malignant Diseases Recruiting NCT01917708 Phase 1 Abatacept
6 Assessing Immune Function in Young Patients With Cytopenia That Did Not Respond to Treatment Completed NCT00499070
7 Identification of Mutations Responsible for Rare Familial Skin Diseases by Next Generation Sequencing Recruiting NCT02509650
8 Insight Into Subcutaneous Adipose Tissue Disorders Recruiting NCT02838277
9 Predictors of Decompressive Laminectomy Outcomes Recruiting NCT02215551
10 Hematopoietic Stem Cell Transplant for High Risk Hemoglobinopathies Recruiting NCT02179359 Reduced Toxicity Ablative Regimen;Reduced Intensity Preparative Regimen;Myeloablative Preparative Regimen
11 CD34+ (Non-Malignant) Stem Cell Selection for Patients Receiving Allogeneic Stem Cell Transplantation Recruiting NCT01966367 Early Phase 1
12 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:

38
Thyroid, Tongue, Spinal Cord, Skin, Kidney, Bone, Colon

Publications for Lipomatosis

Articles related to Lipomatosis:

(show top 50) (show all 839)
# Title Authors Year
1
Madelung's disease: A benign symmetric lipomatosis. ( 29405131 )
2018
2
Incidence of spinal epidural lipomatosis in patients with spinal stenosis. ( 29203971 )
2018
3
Tuberous Sclerosis Complex and Diffuse Lipomatosis: Case Report of a Rare Association. ( 29441296 )
2018
4
Urodynamic characteristics of pelvic lipomatosis with glandular cystitis patients correlate with morphologic alterations of the urinary system and disease severity. ( 28763116 )
2017
5
Gastric lipomatosis treated by total gastrectomy: a case report. ( 29247384 )
2017
6
Encephalocraniocutaneous lipomatosis with Wilms' tumor. ( 28612492 )
2017
7
Encephalocraniocutaneous lipomatosis: A case report with review of literature. ( 28707961 )
2017
8
Idiopathic renal replacement lipomatosis. ( 29154378 )
2017
9
Massive Renal Replacement Lipomatosis With Foci of Xanthogranulomatous Pyelonephritis in a Horseshoe Kidney. ( 28443241 )
2017
10
Radiological images through an anaesthesiologists' looking glass: Airway management in cervical lipomatosis in an infant. ( 29242660 )
2017
11
Pleural and Mediastinal Lipomatosis with Subpleural Fat as a Mimicker of Pleural Effusion- A Rare Case Report. ( 28893005 )
2017
12
Multimodality imaging of a rare case of cardiac lipomatosis. ( 27679604 )
2017
13
Pancreatic lipomatosis in cystic fibrosis: Rare manifestation of an uncommon disease. ( 28580220 )
2017
14
Congenital Infiltrating Lipomatosis of the Face: Case Report With Presentation of a New Multistep Surgical Approach. ( 29128477 )
2017
15
Rare diagnosis of intestinal lipomatosis complicated by intussusception in an adult: A case report. ( 28898799 )
2017
16
Benign symmetric lipomatosis with lingual involvement: Case report and literature review. ( 29129710 )
2017
17
Hereditary Multiple Cerebral Cavernous Malformations Associated with Wilson Disease and Multiple Lipomatosis. ( 28602929 )
2017
18
Somatic PIK3CA mutations are present in multiple tissues of facial infiltrating lipomatosis. ( 28665924 )
2017
19
Multiple Symmetric Lipomatosis. ( 28643398 )
2017
20
Unusual cause of lumbar canal stenosis in 8<sup>th</sup>decade of life - Spinal epidural lipomatosis. ( 29403255 )
2017
21
Communicating Fistula Between Colocutan and Nephrocutan With Renal Stones and Renal Replacement Lipomatosis. A Case Report. ( 28083471 )
2017
22
Homozygous LIPE mutation in siblings with multiple symmetric lipomatosis, partial lipodystrophy, and myopathy. ( 27862896 )
2017
23
Spinal cord compression secondary to idiopathic thoracic epidural lipomatosis in an adolescent: A case report and review of literature. ( 28710985 )
2017
24
Management of idiopathic spinal epidural lipomatosis: a case report and review of the literature. ( 29273822 )
2017
25
Multiple symmetric lipomatosis. ( 28680030 )
2017
26
Occurrence of sudden paraplegia during follow-up period of thoracic vertebral compression fracture in a case with spinal epidural lipomatosis. ( 29423281 )
2017
27
Lipomatosis encefalocraneocutA!nea: reporte de caso. ( 29414957 )
2017
28
'The dark pancreas': classic CT appearance of total pancreatic lipomatosis. ( 28536225 )
2017
29
Cutaneous lipomatosis: diagnosing a rare condition. ( 29050453 )
2017
30
Unexpected transesophageal echocardiography tee finding: mediastinal lipomatosis fakes an aortic intramural haematoma. ( 28275569 )
2017
31
Congenital Infiltrating Lipomatosis of the Face: Case Report and Literature Review. ( 28846548 )
2017
32
Profiling of differentially expressed genes in adipose tissues of multiple symmetric lipomatosis. ( 28901441 )
2017
33
A case report on total pancreatic lipomatosis: An unusual entity. ( 29085272 )
2017
34
Spinal epidural lipomatosis - an easily ignored secondary intraspinal disorder in spinal kyphotic deformities. ( 28302104 )
2017
35
Partial Encephalocraniocutaneous Lipomatosis Syndrome. ( 28553398 )
2017
36
Encephalocraniocutaneous Lipomatosis: Haberland Syndrome. ( 29192135 )
2017
37
Results of Arthroscopic Synovectomy for Treatment of Synovial Lipomatosis (Lipoma Arborescens) of the Knee. ( 28738431 )
2017
38
Multiple symmetric lipomatosis and gynecomastia: A case report and relative literature review. ( 28438575 )
2017
39
Obesity and spinal epidural lipomatosis in cauda equina syndrome. ( 28756300 )
2017
40
Demographic Characteristics, Anatomical Distribution, and Clinical Presentations of Lipomatosis Tumors Arising from Hand and Wrist. ( 27999457 )
2016
41
Value of Multimode Sonography for Assessment of Pelvic Lipomatosis Compared With Computed Tomography. ( 27091913 )
2016
42
Idiopathic Lumbar Epidural Lipomatosis Mimicking Disc Herniation: A Case Report. ( 27309484 )
2016
43
Patient-reported outcome of surgical treatment for lumbar spinal epidural lipomatosis. ( 27363757 )
2016
44
Poster 475 Acute Paraplegia Secondary to Spinal Epidural Lipomatosis in a Child with Obesity: A Case Report. ( 27673217 )
2016
45
A rare case of familial multiple subcutaneous lipomatosis with novel PALB2 mutation and increased predilection to cancers. ( 26845227 )
2016
46
Chronic pancreatitis and lipomatosis are associated with defective function of ciliary genes in pancreatic ductal cells. ( 27798096 )
2016
47
Encephalocraniocutaneous lipomatosis (Haberland syndrome): A mild case with bilateral cutaneous and ocular involvement. ( 27222873 )
2016
48
Significant antitumor response of disseminated glioblastoma to bevacizumab resulting in long-term clinical remission in a patient with encephalocraniocutaneous lipomatosis: A case report. ( 27703677 )
2016
49
A case of symmetrical lipomatosis of the tongue presenting as macroglossia. ( 27427539 )
2016
50
Mediastinal Lipomatosis with Dyslipidemia: Cause of Dyspnea. ( 27805346 )
2016

Variations for Lipomatosis

Expression for Lipomatosis

Search GEO for disease gene expression data for Lipomatosis.

Pathways for Lipomatosis

GO Terms for Lipomatosis

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

# Name GO ID Score Top Affiliating Genes
1 angiogenesis GO:0001525 9.33 FGFR1 PIK3CA PTEN
2 chondrocyte differentiation GO:0002062 9.26 FGFR1 HMGA2
3 endothelial cell migration GO:0043542 8.96 PIK3CA PTEN
4 mesenchymal cell differentiation GO:0048762 8.62 FGFR1 HMGA2

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

# Name GO ID Score Top Affiliating Genes
1 triglyceride lipase activity GO:0004806 8.62 CEL LIPE

Sources for Lipomatosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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