MCID: LPM005
MIFTS: 46

Lipomatosis

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

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 NFAT and Cardiac Hypertrophy. The drugs Busulfan and Vidarabine have been mentioned in the context of this disorder. Affiliated tissues include kidney, spinal cord and thyroid, and related phenotypes are cellular and growth/size/body region

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 223)
# Related Disease Score Top Affiliating Genes
1 encephalocraniocutaneous lipomatosis 34.2 FGFR1 HMGA2
2 lipomatosis, multiple 33.8 HMGA2 MEN1 PTEN UCP1
3 lipomatosis, multiple symmetric 33.8 LIPE MFN2 UCP1
4 proteus syndrome 30.3 PIK3CA PTEN
5 pelvic lipomatosis 12.6
6 roch-leri mesosomatous lipomatosis 12.4
7 mediastinal lipomatosis 12.2
8 diffuse lipomatosis 12.2
9 facial infiltrating lipomatosis 12.2
10 hemihyperplasia-multiple lipomatosis syndrome 12.1
11 segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome 12.1
12 pancreatic lipomatosis duodenal stenosis 12.0
13 steroid lipomatosis 12.0
14 pelvic lipomatosis with crossed renal ectopia 11.9
15 adiposis dolorosa 11.7
16 pierpont syndrome 11.6
17 shwachman-diamond syndrome 1 11.6
18 pleomorphic lipoma 11.3
19 pik3ca-related overgrowth spectrum 11.2
20 stiff skin syndrome 11.1
21 lipedematous scalp 11.0
22 cystitis 10.2
23 skin lipoma 10.2 HMGA2 PTEN
24 thyroid hurthle cell adenoma 10.2 PIK3CA PTEN
25 rosette-forming glioneuronal tumor 10.2 FGFR1 PIK3CA
26 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.1 HMGA2 PTEN
27 intussusception 10.1
28 pyelonephritis 10.1
29 xanthogranulomatous pyelonephritis 10.1
30 cauda equina syndrome 10.1
31 glandular cystitis 10.1
32 clivus chordoma 10.1 FGFR1 PTEN
33 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 10.1 PIK3CA PTEN
34 paraplegia 10.1
35 adenocarcinoma 10.1
36 neuropathy 10.1
37 breast adenocarcinoma 10.0 HMGA2 PIK3CA PTEN
38 conn's syndrome 10.0
39 liposarcoma 10.0
40 hemimegalencephaly 10.0
41 thyroid cancer, nonmedullary, 2 10.0 MEN1 PIK3CA PTEN
42 ovarian clear cell carcinoma 10.0 PIK3CA PTEN
43 lung squamous cell carcinoma 10.0 FGFR1 PIK3CA PTEN
44 macroglossia 10.0
45 spinal stenosis 10.0
46 lymphoma 10.0
47 epilepsy 10.0
48 myopathy 10.0
49 gigantism 10.0
50 giant cell glioblastoma 10.0 FGFR1 PTEN

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:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.15 FGFR1 IL13 LIPE MEN1 MFN2 PIK3CA
2 growth/size/body region MP:0005378 10.1 CEL FGFR1 IL13 LIPE MEN1 MFN2
3 homeostasis/metabolism MP:0005376 10.07 CEL FGFR1 IL13 LIPE MEN1 MFN2
4 cardiovascular system MP:0005385 10.05 FGFR1 LIPE MEN1 MFN2 PIK3CA PRKAR1A
5 digestive/alimentary MP:0005381 10.02 CEL FGFR1 IL13 LIPE MEN1 PRKAR1A
6 adipose tissue MP:0005375 10 CEL LIPE PIK3CA PRKAR1A PTEN UCP1
7 endocrine/exocrine gland MP:0005379 9.98 FGFR1 IL13 LIPE MEN1 PIK3CA PRKAR1A
8 embryo MP:0005380 9.93 FGFR1 MEN1 MFN2 PIK3CA PRKAR1A PTEN
9 integument MP:0010771 9.8 FGFR1 IL13 LIPE PIK3CA PRKAR1A PTEN
10 muscle MP:0005369 9.76 FGFR1 IL13 LIPE MEN1 MFN2 PIK3CA
11 liver/biliary system MP:0005370 9.65 CEL LIPE MEN1 PRKAR1A PTEN
12 reproductive system MP:0005389 9.5 FGFR1 IL13 LIPE MEN1 PIK3CA PRKAR1A
13 skeleton MP:0005390 9.1 FGFR1 IL13 MFN2 PIK3CA PRKAR1A PTEN

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
Vidarabine Approved, Investigational Phase 2, Phase 3,Phase 3 24356-66-9 32326 21704
3
Fludarabine Approved Phase 2, Phase 3,Phase 3,Not Applicable,Early Phase 1 75607-67-9, 21679-14-1 30751
4
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Not Applicable 6055-19-2, 50-18-0 2907
5
alemtuzumab Approved, Investigational Phase 2, Phase 3,Not Applicable,Early Phase 1 216503-57-0
6
Lenograstim Approved, Investigational Phase 2, Phase 3 135968-09-1
7 Immunologic Factors Phase 2, Phase 3,Phase 3,Phase 1
8 Antimetabolites, Antineoplastic Phase 2, Phase 3,Phase 3
9 Alkylating Agents Phase 2, Phase 3,Phase 3
10 Immunosuppressive Agents Phase 2, Phase 3,Phase 3,Phase 1
11 Antineoplastic Agents, Alkylating Phase 2, Phase 3,Phase 3
12 Antiviral Agents Phase 2, Phase 3,Phase 3
13 Antimetabolites Phase 2, Phase 3,Phase 3
14 Antilymphocyte Serum Phase 2, Phase 3,Phase 3,Not Applicable
15 Anti-Infective Agents Phase 2, Phase 3,Phase 3
16 Antirheumatic Agents Phase 2, Phase 3,Phase 1
17 Adjuvants, Immunologic Phase 2, Phase 3
18
Melphalan Approved Phase 2,Early Phase 1 148-82-3 4053 460612
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 59-05-2, 1959-05-2 126941
22
leucovorin Approved Phase 2 58-05-9 6006 143
23
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492
24
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
25 Vidarabine Phosphate Phase 2
26 Antitubercular Agents Phase 2
27 Nucleic Acid Synthesis Inhibitors Phase 2
28 Folate Phase 2
29 Calcineurin Inhibitors Phase 2
30 Folic Acid Antagonists Phase 2
31 Vitamin B Complex Phase 2
32 Dermatologic Agents Phase 2,Not Applicable
33 phenylalanine Phase 2
34 Antibiotics, Antitubercular Phase 2
35 Vitamin B9 Phase 2
36 Anti-Bacterial Agents 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 Vaccines Early Phase 1
43 Analgesics

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 Active, not recruiting NCT01917708 Phase 1 Abatacept
7 Identification of Mutations Responsible for Rare Familial Skin Diseases by Next Generation Sequencing Unknown status NCT02509650
8 Assessing Immune Function in Young Patients With Cytopenia That Did Not Respond to Treatment Completed NCT00499070
9 Insight Into Subcutaneous Adipose Tissue Disorders Recruiting NCT02838277
10 Hematopoietic Stem Cell Transplant for High Risk Hemoglobinopathies Recruiting NCT02179359 Not Applicable 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 Cancer in Inherited Bone Marrow Failure Syndromes Recruiting NCT00027274
13 Predictors of Decompressive Laminectomy Outcomes Active, not recruiting NCT02215551
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
Kidney, Spinal Cord, Thyroid, Tongue, Bone, Colon, Pituitary

Publications for Lipomatosis

Articles related to Lipomatosis:

(show top 50) (show all 1096)
# 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
A postzygotic KRAS mutation in a patient with Schimmelpenning syndrome presenting with lipomatosis, renovascular hypertension, and diabetes mellitus. ( 30443000 )
2018
20
Pancreatic lipomatosis in Diamond-Blackfan anemia: The importance of genetic testing in bone marrow failure disorders. ( 29885000 )
2018
21
An Enlarged Goiter Presenting with a Rare Diffuse Lipomatosis of the Thyroid Gland. ( 29987269 )
2018
22
Methylome analysis and whole-exome sequencing reveal that brain tumors associated with encephalocraniocutaneous lipomatosis are midline pilocytic astrocytomas. ( 30143858 )
2018
23
Eye and appearance characteristics of encephalocraniocutaneous lipomatosis. ( 30250235 )
2018
24
Mosaic KRAS mutation in a patient with encephalocraniocutaneous lipomatosis and renovascular hypertension. ( 30289595 )
2018
25
MERRF syndrome (Myoclonic Epilepsy with Ragged Red Fibres) presenting with cervicothoracic lipomatosis. ( 30409749 )
2018
26
Madelung lipomatosis presenting as a manifestation of myoclonic epilepsy with ragged red fibers (MERRF) syndrome. ( 30238046 )
2018
27
Lipomatosis of the ileocaecal valve: an unusual cause of small bowel obstruction. ( 28239938 )
2018
28
Clinical and imaging characteristics in patients undergoing surgery for lumbar epidural lipomatosis. ( 29490659 )
2018
29
A Case of Epidural Lipomatosis in Pregnancy: Management during Labour and Caesarean Section. ( 30007801 )
2018
30
Diffuse Infiltrative Colonic Lipomatosis in a Vietnamese Pot-bellied Pig. ( 30060842 )
2018
31
Spinal epidural lipomatosis is a previously unrecognized manifestation of metabolic syndrome. ( 30077045 )
2018
32
Neonatal Epidural Lipomatosis: A Rare Case. ( 30090154 )
2018
33
Madelung disease (multiple symmetric lipomatosis). ( 30101135 )
2018
34
Symptomatic spinal epidural lipomatosis after combined hormonal and steroidal palliative therapy of prostate cancer. ( 30109139 )
2018
35
MFN2-associated lipomatosis: Clinical spectrum and impact on adipose tissue. ( 30158064 )
2018
36
Lipomatosis of the brachial plexus with associated overgrowth and macrodactyly. ( 30230612 )
2018
37
Preoperative Evaluation of Pancreatic Fibrosis and Lipomatosis: Correlation of Magnetic Resonance Findings With Histology Using Magnetization Transfer Imaging and Multigradient Echo Magnetic Resonance Imaging. ( 30247172 )
2018
38
Congenital infiltrating lipomatosis of the face with hyperplastic mandibular, maxillary and pterygoid bones: case report and a review of literature. ( 30271223 )
2018
39
Treatment results for lumbar epidural lipomatosis: Does fat matter? ( 30276467 )
2018
40
Multiple Symmetric Lipomatosis (Madelung Disease) in a Large Canadian Family With the Mitochondrial MTTK c.8344A>G Variant. ( 30283804 )
2018
41
Spinal epidural lipomatosis presenting to a U.S. Veterans Affairs pain and rehabilitation department: a report of two cases. ( 30302238 )
2018
42
Idiopathic renal replacement lipomatosis: A diagnostic and therapeutic challenge. ( 30302433 )
2018
43
Lipomatosis of interdigital nerves: Unusual localization. ( 30326348 )
2018
44
Renal Replacement Lipomatosis: From Conception to Birth. ( 30389485 )
2018
45
An intraspinal extradural lipoma with spinal epidural lipomatosis: A case report and a review of literature. ( 30488010 )
2018
46
Teaching NeuroImages: Severe myelopathy due to epidural lipomatosis. ( 30530566 )
2018
47
The Clinical Characteristics of Spinal Epidural Lipomatosis in the Lumbar Spine. ( 30538942 )
2018
48
Communicating Fistula Between Colocutan and Nephrocutan With Renal Stones and Renal Replacement Lipomatosis. A Case Report. ( 28083471 )
2017
49
Obesity and spinal epidural lipomatosis in cauda equina syndrome. ( 28756300 )
2017
50
Management of idiopathic spinal epidural lipomatosis: a case report and review of the literature. ( 29273822 )
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
12.51 LIPE PIK3CA PRKAR1A PTEN
2
Show member pathways
12.41 FGFR1 PIK3CA PRKAR1A PTEN
3 12.28 FGFR1 IL13 PIK3CA PTEN
4 11.75 LIPE MFN2 PTEN UCP1
5 11.65 FGFR1 PIK3CA PTEN
6
Show member pathways
11.51 PIK3CA PRKAR1A PTEN
7 11.09 PIK3CA PTEN
8 10.98 FGFR1 PIK3CA
9 10.88 PIK3CA PTEN
10 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 9.58 FGFR1 PIK3CA PTEN
2 chondrocyte differentiation GO:0002062 9.43 FGFR1 HMGA2
3 cell migration GO:0016477 9.43 FGFR1 PIK3CA PTEN
4 protein kinase B signaling GO:0043491 9.37 PIK3CA PTEN
5 endothelial cell migration GO:0043542 9.32 PIK3CA PTEN
6 presynaptic membrane assembly GO:0097105 9.16 CEL PTEN
7 positive regulation of cold-induced thermogenesis GO:0120162 9.13 IL13 MFN2 UCP1
8 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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