MCID: LPM005
MIFTS: 50

Lipomatosis

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

Aliases & Classifications for Lipomatosis

MalaCards integrated aliases for Lipomatosis:

Name: Lipomatosis 12 55 44 15 73
Benign Symmetrical Lipomatosis 73

Classifications:



External Ids:

Disease Ontology 12 DOID:3153
ICD10 33 E88.2
MeSH 44 D008068
SNOMED-CT 68 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 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 bone, bone marrow and thyroid, and related phenotypes are cardiovascular system and cellular

Wikipedia : 76 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 225)
# Related Disease Score Top Affiliating Genes
1 encephalocraniocutaneous lipomatosis 34.7 FGFR1 HMGA2
2 lipomatosis, multiple 34.1 HMGA2 MEN1 PTEN
3 diffuse lipomatosis 33.6 HMGA2 SDHB
4 lipomatosis, multiple symmetric 32.9 LIPE MFN2 UCP1
5 proteus syndrome 30.4 PIK3CA PTEN
6 adenocarcinoma 29.7 FGFR1 PIK3CA PTEN
7 pilocytic astrocytoma 29.5 FGFR1 PIK3CA PTEN
8 cowden disease 29.5 PIK3CA PTEN SDHB
9 gastrointestinal stromal tumor 29.1 MEN1 PTEN SDHB
10 multiple endocrine neoplasia 28.7 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 1 11.4
22 stiff skin syndrome 10.9
23 pleomorphic lipoma 10.8
24 lipedematous scalp 10.8
25 skin lipoma 10.6 HMGA2 PTEN
26 thyroid hurthle cell adenoma 10.5 PIK3CA PTEN
27 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.5 HMGA2 PTEN
28 rosette-forming glioneuronal tumor 10.5 FGFR1 PIK3CA
29 brain stem glioma 10.4 FGFR1 PIK3CA
30 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 10.3 PIK3CA PTEN
31 chondroma 10.3 HMGA2 SDHB
32 mediastinitis 10.3
33 ovarian clear cell carcinoma 10.2 PIK3CA PTEN
34 giant cell glioblastoma 10.2 FGFR1 PTEN
35 hormone producing pituitary cancer 10.2 MEN1 PRKAR1A
36 multiple endocrine neoplasia, type iv 10.1 MEN1 PRKAR1A
37 pancreatitis 10.1
38 thyroid cancer, nonmedullary, 2 10.1 MEN1 PIK3CA PTEN
39 adamantinoma of long bones 10.1 FGFR1 PIK3CA PTEN
40 thyroiditis 10.1
41 lung squamous cell carcinoma 10.0 FGFR1 PIK3CA PTEN
42 cystitis 10.0
43 multiple endocrine neoplasia, type iia 10.0 MEN1 SDHB
44 pyelonephritis 10.0
45 xanthogranulomatous pyelonephritis 10.0
46 glandular cystitis 10.0
47 bladder squamous cell carcinoma 10.0 PIK3CA PTEN
48 intussusception 9.9
49 cauda equina syndrome 9.9
50 lymphoma 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:


exanthema, pruritus

MGI Mouse Phenotypes related to Lipomatosis:

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

Drugs & Therapeutics for Lipomatosis

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

(show all 43)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Busulfan Approved, Investigational Phase 2, Phase 3,Phase 3,Not Applicable,Early Phase 1 55-98-1 2478
2
Fludarabine Approved Phase 2, Phase 3,Phase 3,Not Applicable,Early Phase 1 21679-14-1, 75607-67-9 30751
3
Vidarabine Approved, Investigational Phase 2, Phase 3,Phase 3 24356-66-9 32326 21704
4
alemtuzumab Approved, Investigational Phase 2, Phase 3,Not Applicable,Early Phase 1 216503-57-0
5
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Not Applicable 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,Phase 3
8 Anti-Infective Agents Phase 2, Phase 3,Phase 3
9 Antilymphocyte Serum Phase 2, Phase 3,Phase 3,Not Applicable
10 Antimetabolites Phase 2, Phase 3,Phase 3
11 Antimetabolites, Antineoplastic Phase 2, Phase 3,Phase 3
12 Antineoplastic Agents, Alkylating Phase 2, Phase 3,Phase 3
13 Antiviral Agents Phase 2, Phase 3,Phase 3
14 Immunosuppressive Agents Phase 2, Phase 3,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,Early Phase 1 148-82-3 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, Investigational 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 58-05-9 143 6006
25 Vidarabine Phosphate Phase 2
26 Anti-Bacterial Agents Phase 2
27 Antibiotics, Antitubercular Phase 2
28 Antitubercular Agents Phase 2
29 Calcineurin Inhibitors Phase 2
30 Dermatologic Agents Phase 2,Not Applicable
31 Folic Acid Antagonists Phase 2
32 Nucleic Acid Synthesis Inhibitors Phase 2
33 Vitamin B Complex Phase 2
34 Folate Nutraceutical Phase 2
35 phenylalanine Nutraceutical Phase 2
36 Vitamin B9 Nutraceutical Phase 2
37
Abatacept Approved Phase 1 332348-12-6 10237
38 Cyclosporins Phase 1
39
Pancrelipase Approved, Investigational 53608-75-6
40
Iron Approved Not Applicable 7439-89-6 23925
41 pancreatin
42 Analgesics
43 Vaccines Early Phase 1

Interventional clinical trials:

(show all 15)
# 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 Evaluation of Safety and Efficacy of RZL-012 for the Treatment of Lipedema or of Nodular Dercum's Disease Recruiting NCT03492840 Phase 2 RZL-012
4 Fludarabine Phosphate, Cyclophosphamide, Total Body Irradiation, and Donor Stem Cell Transplant in Treating Patients With Blood Cancer Recruiting NCT03333486 Phase 2 Cyclophosphamide;Fludarabine Phosphate
5 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
6 BMT Abatacept for Non-Malignant Diseases Recruiting NCT01917708 Phase 1 Abatacept
7 Assessing Immune Function in Young Patients With Cytopenia That Did Not Respond to Treatment Completed NCT00499070
8 Identification of Mutations Responsible for Rare Familial Skin Diseases by Next Generation Sequencing Recruiting NCT02509650
9 Insight Into Subcutaneous Adipose Tissue Disorders Recruiting NCT02838277
10 Predictors of Decompressive Laminectomy Outcomes Recruiting NCT02215551
11 Hematopoietic Stem Cell Transplant for High Risk Hemoglobinopathies Recruiting NCT02179359 Not Applicable Reduced Toxicity Ablative Regimen;Reduced Intensity Preparative Regimen;Myeloablative Preparative Regimen
12 CD34+ (Non-Malignant) Stem Cell Selection for Patients Receiving Allogeneic Stem Cell Transplantation Recruiting NCT01966367 Early Phase 1
13 Cancer in Inherited Bone Marrow Failure Syndromes Recruiting NCT00027274
14 Imaging Lymphatic Function in Normal Subjects and in Persons With Lymphatic Disorders Enrolling by invitation NCT00833599 NIRFLI with ICG
15 Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation Terminated NCT01319851 Not Applicable 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:

41
Bone, Bone Marrow, Thyroid, Spinal Cord, Kidney, Tongue, Skin

Publications for Lipomatosis

Articles related to Lipomatosis:

(show top 50) (show all 864)
# Title Authors Year
1
Tuberous Sclerosis Complex and Diffuse Lipomatosis: Case Report of a Rare Association. ( 29441296 )
2018
2
Superior vena cava stenosis due to lipomatosis of the right atrium. ( 29526030 )
2018
3
Multiple Symmetric Lipomatosis: New Classification System Based on the Largest German Patient Cohort. ( 29876171 )
2018
4
Madelung's disease: A benign symmetric lipomatosis. ( 29405131 )
2018
5
Incidence of spinal epidural lipomatosis in patients with spinal stenosis. ( 29203971 )
2018
6
Lumbar epidural lipomatosis is associated with visceral fat and metabolic disorders. ( 29721861 )
2018
7
Comparison of relative and absolute values of magnetic resonance imaging in the diagnosis of spinal epidural lipomatosis. ( 29595411 )
2018
8
Extensive renal sinus lipomatosis in xanthogranulomatous pyelonephritis simulating liposarcoma. ( 29522292 )
2018
9
Adipose tissue-derived stem cells from affected and unaffected areas in patients with multiple symmetric lipomatosis show differential regulation of mTOR pathway genes. ( 29758934 )
2018
10
Madelung's disease (multiple symmetric lipomatosis) in an alcoholic patient. ( 29680582 )
2018
11
Lipomatosis of the caregiver: a new form of cutaneous lipomatosis. ( 29963805 )
2018
12
Lipomatosis of Nerve: More than a Focal Distal Disease. ( 29952896 )
2018
13
Encephalocraniocutaneous Lipomatosis. ( 29683947 )
2018
14
Benefits of bariatric surgery on spinal epidural lipomatosis: case report and literature review. ( 29693236 )
2018
15
Unrecognized lipomatosis of the femoral nerve and nerve-territory overgrowth. ( 29693277 )
2018
16
Bilateral hydronephrosis and acute kidney injury secondary to pelvis lipomatosis. ( 29524979 )
2018
17
Nevus Lipomatosis Cutaneous Superficialis: A Single-Center Case Series of 5 Patients. ( 29928203 )
2018
18
Spinal epidural lipomatosis: a rare condition with unclear etiology. ( 29745217 )
2018
19
Clinical and imaging characteristics in patients undergoing surgery for lumbar epidural lipomatosis. ( 29490659 )
2018
20
Pancreatic lipomatosis in Diamond-Blackfan anemia: The importance of genetic testing in bone marrow failure disorders. ( 29885000 )
2018
21
Communicating Fistula Between Colocutan and Nephrocutan With Renal Stones and Renal Replacement Lipomatosis. A Case Report. ( 28083471 )
2017
22
Obesity and spinal epidural lipomatosis in cauda equina syndrome. ( 28756300 )
2017
23
Management of idiopathic spinal epidural lipomatosis: a case report and review of the literature. ( 29273822 )
2017
24
Radiological images through an anaesthesiologists' looking glass: Airway management in cervical lipomatosis in an infant. ( 29242660 )
2017
25
Cutaneous lipomatosis: diagnosing a rare condition. ( 29050453 )
2017
26
Urodynamic characteristics of pelvic lipomatosis with glandular cystitis patients correlate with morphologic alterations of the urinary system and disease severity. ( 28763116 )
2017
27
Multiple Symmetric Lipomatosis. ( 28643398 )
2017
28
Idiopathic epidural lipomatosis of the lumbar spine. ( 29541302 )
2017
29
Multimodality imaging of a rare case of cardiac lipomatosis. ( 27679604 )
2017
30
Profiling of differentially expressed genes in adipose tissues of multiple symmetric lipomatosis. ( 28901441 )
2017
31
Occurrence of sudden paraplegia during follow-up period of thoracic vertebral compression fracture in a case with spinal epidural lipomatosis. ( 29423281 )
2017
32
Encephalocraniocutaneous lipomatosis with Wilms' tumor. ( 28612492 )
2017
33
Spinal epidural lipomatosis - an easily ignored secondary intraspinal disorder in spinal kyphotic deformities. ( 28302104 )
2017
34
Rare diagnosis of intestinal lipomatosis complicated by intussusception in an adult: A case report. ( 28898799 )
2017
35
Idiopathic renal replacement lipomatosis. ( 29154378 )
2017
36
Spinal cord compression secondary to idiopathic thoracic epidural lipomatosis in an adolescent: A case report and review of literature. ( 28710985 )
2017
37
Somatic PIK3CA mutations are present in multiple tissues of facial infiltrating lipomatosis. ( 28665924 )
2017
38
Hereditary Multiple Cerebral Cavernous Malformations Associated with Wilson Disease and Multiple Lipomatosis. ( 28602929 )
2017
39
Benign symmetric lipomatosis with lingual involvement: Case report and literature review. ( 29129710 )
2017
40
Congenital Infiltrating Lipomatosis of the Face: Case Report With Presentation of a New Multistep Surgical Approach. ( 29128477 )
2017
41
Idiopathic Spinal Epidural Lipomatosis Causing Cauda Equina Syndrome. ( 29849325 )
2017
42
Unusual cause of lumbar canal stenosis in 8<sup>th</sup>decade of life - Spinal epidural lipomatosis. ( 29403255 )
2017
43
Pancreatic lipomatosis in cystic fibrosis: Rare manifestation of an uncommon disease. ( 28580220 )
2017
44
Homozygous LIPE mutation in siblings with multiple symmetric lipomatosis, partial lipodystrophy, and myopathy. ( 27862896 )
2017
45
Partial Encephalocraniocutaneous Lipomatosis Syndrome. ( 28553398 )
2017
46
Congenital Infiltrating Lipomatosis of the Face: Case Report and Literature Review. ( 28846548 )
2017
47
A case report on total pancreatic lipomatosis: An unusual entity. ( 29085272 )
2017
48
Encephalocraniocutaneous lipomatosis: A case report with review of literature. ( 28707961 )
2017
49
Massive Renal Replacement Lipomatosis With Foci of Xanthogranulomatous Pyelonephritis in a Horseshoe Kidney. ( 28443241 )
2017
50
Lipomatosis encefalocraneocutA!nea: reporte de caso. ( 29414957 )
2017

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.44 LIPE PIK3CA PRKAR1A PTEN
2
Show member pathways
12.36 FGFR1 PIK3CA PRKAR1A PTEN
3 11.76 FGFR1 PIK3CA PTEN
4 11.75 LIPE MFN2 PTEN UCP1
5
Show member pathways
11.51 PIK3CA PRKAR1A PTEN
6 11.07 PIK3CA PTEN
7 10.92 FGFR1 PIK3CA
8 10.73 PIK3CA PTEN
9 10.61 FGFR1 PIK3CA PTEN

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 9.5 FGFR1 PIK3CA PTEN
2 cell migration GO:0016477 9.43 FGFR1 PIK3CA PTEN
3 chondrocyte differentiation GO:0002062 9.37 FGFR1 HMGA2
4 endothelial cell migration GO:0043542 9.16 PIK3CA PTEN
5 presynaptic membrane assembly GO:0097105 8.96 CEL PTEN
6 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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