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FML
MCID: LPM012
MIFTS: 60

Lipomatosis, Multiple (FML)

Categories: Cancer diseases, Genetic diseases, Metabolic diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Lipomatosis, Multiple

About this section

MalaCards integrated aliases for Lipomatosis, Multiple:

Name: Lipomatosis, Multiple 57 29 70
Lipoma 57 12 54 15 17 70
Familial Multiple Lipomatosis 73 20 58
Lipomatosis, Familial Multiple 57 12
Benign Lipomatous Tumor 12 70
Multiple Lipomatosis 12 20
Lipomatous Neoplasm 12 70
Lipomatosis, Familial Multiple; Fml 57
Benign Tumor of Adipose Tissue 12
Neoplasms, Adipose Tissue 44
Tumor of Adipose Tissue 12
Lipomatous Tumor 12
Lipoma; Lipo 57
Lipomas 15
Lipo 57
Fml 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
lipomatosis, multiple:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Rare diseases Cancer diseases Genetic diseases Metabolic diseases
Anatomical: Skin diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:3315
OMIM® 57 151900
ICD9CM 34 214
ICD10 32 D17 D17.9
ICD10 via Orphanet 33 E88.2
UMLS via Orphanet 71 C3489413
Orphanet 58 ORPHA199276
MedGen 41 C3489413
UMLS 70 C0023798 C0206631 C0346118 more
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Summaries for Lipomatosis, Multiple

About this section
GARD : 20 Familial multiple lipomatosis (FML) is a rare condition that is characterized by multiple lipomas on the trunk and extremities. As the name suggests, FML is diagnosed when multiple lipomatosis occurs in more than one family member, often over several generations. The lipomas associated with FML are usually painless, but may impact quality of life as they can be numerous and large. Although the condition appears to be passed down through families in an autosomal dominant manner, the underlying genetic cause is currently unknown. Treatment is based on the signs and symptoms present in each person. Surgical excision may be necessary if the tumors interfere with movement and/or daily life.

MalaCards based summary : Lipomatosis, Multiple, also known as lipoma, is related to lipoma of spermatic cord and chondroid lipoma. An important gene associated with Lipomatosis, Multiple is HMGA2 (High Mobility Group AT-Hook 2), and among its related pathways/superpathways are Chromatin Regulation / Acetylation and Integrated Breast Cancer Pathway. The drugs Aspirin and Clopidogrel have been mentioned in the context of this disorder. Affiliated tissues include colon, spinal cord and breast, and related phenotypes are lipodystrophy and insulin resistance

Disease Ontology : 12 A cell type benign neoplasm that is composed of lipocytes.

OMIM® : 57 Familial multiple lipomatosis is a rare autosomal dominant disorder characterized by numerous encapsulated lipomas on the trunk and extremities (Keskin et al., 2002). (151900) (Updated 05-Apr-2021)

Wikipedia : 73 Familial multiple lipomatosis is a hereditary adipose tissue disorder that is characterized by the... more...

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Related Diseases for Lipomatosis, Multiple

About this section

Diseases in the Lipomatosis family:

Lipomatosis, Multiple

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

(show top 50) (show all 1125)
# Related Disease Score Top Affiliating Genes
1 lipoma of spermatic cord 32.7 MDM2 CDK4
2 chondroid lipoma 32.6 PLAG1 HMGA2 FUS
3 spindle cell lipoma 32.6 MDM2 DES CDK4 CD34
4 skin lipoma 32.4 PTEN NF1 MEN1
5 paratesticular lipoma 32.3 MDM2 CDK4
6 axillary lipoma 32.3 UCP1 KIT
7 angiolipoma 32.3 MDM2 DES CD34
8 large intestine lipoma 32.1 PTEN HMGA2
9 infiltrating lipoma 32.1 MDM2 LPP LHFPL6 HMGA2 CDK4 CD34
10 lipoma of colon 31.9 PTEN HMGA2
11 pleomorphic lipoma 31.8 SERPINA3 MDM2 LHFPL6 HMGA2 CDK4 CD34
12 well-differentiated liposarcoma 31.5 SERPINA3 PLAG1 MDM2 KIT HMGA2 FUS
13 rare tumor 31.1 KIT DES
14 mesenchymal cell neoplasm 30.9 SERPINA3 KIT HMGA2 CD34
15 myxoid liposarcoma 30.9 MDM2 HMGA2 FUS DDIT3 CDK4
16 liposarcoma 30.8 PTEN NF1 MDM2 HMGA2 FUS DES
17 lipoblastoma 30.8 PLAG1 MDM2 CDK4
18 fibroma 30.7 SERPINA3 NF1 DES CD34
19 leiomyoma 30.6 KIT HMGA2 DES CD34
20 hemangioma 30.6 PTEN MEN1 KIT CD34
21 pleomorphic adenoma 30.6 PLAG1 MDM2 HMGA2 DES
22 neurofibroma 30.5 PTEN NF1 KIT CD34
23 connective tissue benign neoplasm 30.5 SERPINA3 MDM2 KIT CDK4 CD34
24 chondroma 30.5 NF1 KIT HMGA2
25 diffuse lipomatosis 30.4 MDM2 CDK4
26 juxtacortical osteosarcoma 30.4 MDM2 CDK4
27 chondrosarcoma, extraskeletal myxoid 30.3 PLAG1 FUS DDIT3 CD34
28 sarcoma 30.3 MDM2 KIT FUS DDIT3 CDK4
29 neuroma 30.3 SERPINA3 NF1 CD34
30 ring chromosome 30.3 MDM2 HMGA2 HMGA1 CDK4
31 angiosarcoma 30.3 MDM2 KIT CD34
32 myoma 30.2 KIT HMGA2 CD34
33 neurilemmoma 30.2 SERPINA3 NF1 KIT DES CD34
34 cellular myxoid liposarcoma 30.2 SERPINA3 MDM2 FUS DDIT3 CDK4
35 fibrous histiocytoma 30.2 SERPINA3 KIT FUS DES CD34
36 spindle cell sarcoma 30.2 SERPINA3 MDM2 KIT DES CD34
37 lipomatosis 30.2 UCP1 PTEN MEN1 HMGA2
38 malignant fibrous histiocytoma 30.1 SERPINA3 MDM2 DES DDIT3 CDK4
39 infiltrating angiolipoma 30.1 MDM2 HMGA2 CDK4 CD34
40 pelvic lipomatosis 30.1 HMGA2 HMGA1
41 benign breast phyllodes tumor 30.1 KIT CD34
42 inflammatory liposarcoma 30.1 MDM2 CD34
43 cutaneous fibrous histiocytoma 30.0 SERPINA3 DES CD34
44 li-fraumeni syndrome 30.0 PTEN NF1 MEN1 MDM2 CDK4
45 pleomorphic adenoma carcinoma 30.0 PLAG1 HMGA2
46 meningioma, familial 30.0 SPRED1 SERPINA3 PTEN NF1 MEN1 CD34
47 sclerosing liposarcoma 30.0 MDM2 FUS CD34
48 extraosseous osteosarcoma 30.0 MDM2 CDK4 CD34
49 pseudosarcomatous fibromatosis 30.0 SERPINA3 KIT DES CD34
50 mucocele of appendix 30.0 KIT CD34

Graphical network of the top 20 diseases related to Lipomatosis, Multiple:



Diseases related to Lipomatosis, Multiple
Sources

Symptoms & Phenotypes for Lipomatosis, Multiple

About this section

Human phenotypes related to Lipomatosis, Multiple:

58 31 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 lipodystrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0009125
2 insulin resistance 58 31 hallmark (90%) Very frequent (99-80%) HP:0000855
3 increased adipose tissue 58 31 hallmark (90%) Very frequent (99-80%) HP:0009126
4 hyperlipidemia 58 31 frequent (33%) Frequent (79-30%) HP:0003077
5 peripheral neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0009830
6 functional intestinal obstruction 58 31 frequent (33%) Frequent (79-30%) HP:0005249
7 macrocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000256
8 cerebral calcification 58 31 occasional (7.5%) Occasional (29-5%) HP:0002514
9 bowing of the long bones 58 31 occasional (7.5%) Occasional (29-5%) HP:0006487
10 delayed speech and language development 58 31 occasional (7.5%) Occasional (29-5%) HP:0000750
11 ventriculomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002119
12 abnormal tricuspid valve morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001702
13 accelerated skeletal maturation 58 31 occasional (7.5%) Occasional (29-5%) HP:0005616
14 hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002079
15 coloboma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000589
16 premature eruption of permanent teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0006337
17 arachnoid cyst 58 31 occasional (7.5%) Occasional (29-5%) HP:0100702
18 medulloblastoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002885
19 overgrowth 58 31 occasional (7.5%) Occasional (29-5%) HP:0001548
20 chorioretinitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0012424
21 seizure 31 occasional (7.5%) HP:0001250
22 odontogenic keratocysts of the jaw 31 occasional (7.5%) HP:0010603
23 seizures 58 Occasional (29-5%)
24 multiple lipomas 31 HP:0001012
25 keratocystic odontogenic tumor 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skin:
lipomatosis

Lab:
frequent rearrangements at 12q13 or 12q14

Clinical features from OMIM®:

151900 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Lipomatosis, Multiple according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.17 CD34 CDK4 DDIT3 DES MDM2 MEN1
2 Decreased sensitivity to paclitaxel GR00112-A-0 8.96 NF1 PTEN

MGI Mouse Phenotypes related to Lipomatosis, Multiple:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.15 CD34 CDK4 DDIT3 DES KIT LPP
2 homeostasis/metabolism MP:0005376 10 CD34 CDK4 DDIT3 DES HMGA1 KIT
3 craniofacial MP:0005382 9.92 CDK4 KIT MDM2 MEN1 NF1 PLAG1
4 endocrine/exocrine gland MP:0005379 9.91 CDK4 DDIT3 HMGA1 KIT MDM2 MEN1
5 immune system MP:0005387 9.73 CD34 CDK4 DDIT3 HMGA1 KIT MDM2
6 neoplasm MP:0002006 9.28 CD34 CDK4 DDIT3 HMGA1 KIT MDM2
Sources

Drugs & Therapeutics for Lipomatosis, Multiple

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

(show top 50) (show all 104)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
2
Clopidogrel Approved Phase 4 113665-84-2, 120202-66-6 60606
3 Analgesics, Non-Narcotic Phase 4
4 Fibrinolytic Agents Phase 4
5 Analgesics Phase 4
6 Antirheumatic Agents Phase 4
7 Purinergic P2Y Receptor Antagonists Phase 4
8 Cyclooxygenase Inhibitors Phase 4
9 Anti-Inflammatory Agents, Non-Steroidal Phase 4
10 Antipyretics Phase 4
11 Hormone Antagonists Phase 4
12 Hormones Phase 4
13 Sitagliptin Phosphate Phase 4
14 Incretins Phase 4
15 Dipeptidyl-Peptidase IV Inhibitors Phase 4
16
protease inhibitors Phase 4
17 Hypoglycemic Agents Phase 4
18 HIV Protease Inhibitors Phase 4
19 Vasodilator Agents Phase 4
20 Platelet Aggregation Inhibitors Phase 4
21
Permethrin Approved, Investigational Phase 3 52645-53-1 40326
22
Alprostadil Approved, Investigational Phase 2, Phase 3 745-65-3 149351 5280723
23
Hydrocortisone Approved, Vet_approved Phase 3 50-23-7 5754
24
Hydrocortisone acetate Approved, Vet_approved Phase 3 50-03-3
25
Creatine Approved, Investigational, Nutraceutical Phase 3 57-00-1 586
26 Protective Agents Phase 3
27 Insect Repellents Phase 3
28 Neurotransmitter Agents Phase 3
29 Adrenergic beta-Agonists Phase 3
30 Adrenergic Agents Phase 3
31 Respiratory System Agents Phase 3
32 Anti-Asthmatic Agents Phase 3
33 Adrenergic Agonists Phase 3
34 Bronchodilator Agents Phase 3
35
Salmeterol xinafoate Phase 3 94749-08-3 56801
36 Liver Extracts Phase 2, Phase 3
37
Bilirubin Phase 2, Phase 3 635-65-4 5280352
38 Hydrocortisone 17-butyrate 21-propionate Phase 3
39 Hydrocortisone hemisuccinate Phase 3
40
Fluorouracil Approved Phase 2 51-21-8 3385
41
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
42
Prednisolone acetate Approved, Vet_approved Phase 1, Phase 2 52-21-1
43
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
44
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755
45
Prednisolone phosphate Approved, Vet_approved Phase 1, Phase 2 302-25-0
46
Methylprednisolone hemisuccinate Approved Phase 1, Phase 2 2921-57-5
47
Isoproterenol Approved, Investigational Phase 1, Phase 2 7683-59-2 3779
48
deoxycholic acid Approved Phase 2 83-44-3 222528
49
Fluticasone Approved, Experimental Phase 2 90566-53-3 62924
50
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703

Interventional clinical trials:

(show top 50) (show all 51)
# Name Status NCT ID Phase Drugs
1 A Randomized, Open-label Single-center Trial of Lipo-prostaglandin E1 Improves Coronary Microcirculation Dysfunction in Patients With Ischemic Heart Disease Combine With Diabetes Mellitus Unknown status NCT03159559 Phase 4 Lipo-PGE1
2 The Effect of Sitagliptin on Brown Adipose Tissue and Whole-body Metabolism in Overweight Pre-diabetic Men Completed NCT02294084 Phase 4 Sitagliptin;placebo
3 Lipo-prostaglandin E1 Improves Renal Hypoxia Evaluated by BOLD-MRI in Patients Completed NCT02628106 Phase 4 Lipo-PGE1
4 Protective Effect of Lipo-PGE1 on Myocardial Injury Following Percutaneous Coronary Intervention Unknown status NCT01245855 Phase 3 lipo-PGE1
5 Field Efficacy Of Insecticide Treated Uniforms And Skin Repellents To Reduce Malaria Incidence In Military Personnel On Active Duty In Regions Of Hyperendemicity Unknown status NCT02938975 Phase 3
6 A Multi-Center, Randomized, Double-Blinded, Placebo-Controlled Study Evaluating the Safety and Efficacy of LIPO-202 for the Reduction of Central Abdominal Bulging Due to Subcutaneous Fat in Non-Obese Subjects Completed NCT02398188 Phase 3 LIPO-202;Placebo
7 A Multi-Center, Randomized, Double-Blinded, Placebo-Controlled Study Evaluating the Safety and Efficacy of LIPO-202 for the Reduction of Central Abdominal Bulging Due to Subcutaneous Fat in Non-Obese Subjects Completed NCT02397499 Phase 3 LIPO-202;Placebo
8 Pharmacokinetic Study of Lipo-PGE1 for Prevention of VOD After HSCT Active, not recruiting NCT02338440 Phase 2, Phase 3 lipoprostaglandin E1
9 Hydrocortisone Treatment for Symmetric Lipomatosis Associated With Neuropathy (SLN): an N-of-1 Study Not yet recruiting NCT04821583 Phase 3 Hydrocortisone;Placebo
10 A Double-Blind Extension Study to Evaluate the Post-Treatment Safety and Duration of Clinical Effect of LIPO-202 in Subjects Who Completed Either the LIPO-202-CL-18 or LIPO-202-CL-19 Study Terminated NCT02483533 Phase 3 LIPO-202;Placebo
11 A Phase II Study of Pegylated Liposomal Doxorubicin (Lipo-Dox) Combined With Cyclophosphamide /5-Fluorouracil as Second Line Chemotherapy in the Treatment of Metastatic Breast Cancer Unknown status NCT01451580 Phase 2 Lipo-Dox
12 An Open-Label Study to Evaluate Retreatment With LIPO-202 Unknown status NCT02397525 Phase 2 LIPO-202
13 A Pilot Study: Association of Beta-2 Adrenergic Agonist and Corticosteroid Injection in the Treatment of Lipomas Completed NCT00624416 Phase 1, Phase 2 Prednisolone synthetic cortisone and Isoproterenol together
14 A Double Blind, Randomized, Multi-Center, Placebo-Controlled Phase 2B Clinical Trial for the Evaluation of Efficacy and Safety of RZL-012 in Subjects Having Dercum's Disease Lipomas Completed NCT04229030 Phase 2 RZL-012;Vehicle
15 A Double Blind Study to Evaluate the Safety and Efficacy of Collagenase Clostridium Histolyticum (AA4500) in the Treatment of Lipoma Completed NCT02249052 Phase 2 AA4500;placebo
16 Multicenter, Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Study of the Safety and Efficacy of ATX-101 (Sodium Deoxycholate for Injection) Intralipomal Injections for the Treatment of Superficial Lipomas Completed NCT00608842 Phase 2 Deoxycholic Acid Injection;Placebo
17 A Dose Escalation Study Using Collagenase Clostridium Histolyticum in the Treatment of Lipoma Completed NCT01613313 Phase 2 Collagenase Clostridium Histolyticum
18 Phase I/II Open-label Randomized Multicenter Trial to Assess Immunogenicity and Safety of 4 Prime-boost Combinations of HIV Vaccine Candidates (MVA HIV-B/ LIPO-5; LIPO-5/MVA HIV-B; GTU®-MultiHIV B / LIPO-5; GTU®-MultiHIV B/MVA HIV-B) in Healthy Volunteers at Low Risk of HIV Infection Completed NCT02038842 Phase 1, Phase 2
19 A Multi-center, Randomized, Double-masked, Placebo-controlled, Dose-ranging, Study of the Safety and Efficacy of Subcutaneous Injections of LIPO-102 Compared With Placebo for the Reduction of Abdominal Subcutaneous Adiposity Completed NCT01180465 Phase 2 LIPO-102;LIPO-102 Low;LIPO-102, Placebo
20 A Phase I/II Clinical Trial to Evaluate the Safety and Immunogenicity of LIPO-5 Alone, ALVAC-HIV (vCP1452) Alone, and ALVAC Prime/LIPO-5 Boost in Healthy, HIV-1 Uninfected Adult Participants Completed NCT00076063 Phase 1, Phase 2
21 A Multi-Center, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Safety and Efficacy of LIPO-202 (Salmeterol Xinafoate for Injection) for the Reduction of Submental Subcutaneous Fat Completed NCT03005717 Phase 2 LIPO-202;Placebo for LIPO-202
22 Dose-ranging Study of the Safety and Efficacy of Fluticasone Propionate and Salmeterol Xinafoate in Healthy Patients With Abdominal Contour Defects Completed NCT01712451 Phase 2 salmeterol xinafoate, fluticasone propionate;Placebo;salmeterol xinafoate
23 Retrospective Study to Analyze Safety and Efficacy of Adipose Tissue Derived Stromal Vascular Fraction (SVF) Application in Treatment of Long Bones Nonunion Completed NCT04340284 Phase 1, Phase 2
24 Evaluation of a Therapeutic Immunization Strategy Associating a DNA Vaccine (GTU-MultiHIV B) Followed by a Lipopeptide Vaccine (LIPO-5) in the Control of Viral Replication Following Antiretroviral Treatment Interruption in HIV-1 Infected Patients With a CD4 Cell Count ≥ 600/mm3 Completed NCT01492985 Phase 2
25 Randomised Double Blinded Phase II AIDS Vaccine Study Comparing Immunogenicity and Safety of 3 Doses of Lipopeptide (LIPO-5) Versus Placebo in Non Infected HIV Volunteers (ANRS VAC 18) Completed NCT00121758 Phase 2
26 A Dose Ranging Study of the Safety and Efficacy of LIPO-202 Healthy Patients With Subcutaneous Fat in the Periumbilical Area Completed NCT01802723 Phase 2 Drug: salmeterol xinafoate;Drug: Placebo
27 A Double-Masked, Evaluation of the Safety and Efficacy of LIPO-102 for the Reduction of Subcutaneous Abdominal Adiposity Completed NCT01096979 Phase 2 LIPO-102;Placebo
28 A Dose-Ranging and Dose Frequency Study Evaluating the Safety and Efficacy of LIPO-102 for the Reduction of Abdominal Subcutaneous Adipose Tissue Completed NCT00918814 Phase 2 LIPO-102;Placebo
29 A Phase 2 Randomized, Placebo-Controlled, Double-Blind Study to Evaluate the Safety and Efficacy of LIPO-202 for the Reduction of Central Abdominal Bulging in a Defined Special Population - Obese Subjects (BMI > or Equal to 30 kg/m2) Completed NCT02568319 Phase 2 LIPO-202;Placebo
30 A Single-masked, Placebo Controlled, Multi-center Pilot Study to Determine the Safety and Efficacy of Orbital Injections of a Fixed Dose of LIPO-102 in Patients With Symptomatic Exophthalmos Associated With Thyroid-related Eye Disease Completed NCT00954057 Phase 2 LIPO-102;Placebo
31 Randomized Study on HIV Immune and Virological Responses Following the Administration of IL-2 Either Alone or Combined to ALVAC-HIV 1433 and HIV Lipopeptides (LIPO-6T) in Patients Treated Early With HAART During Primary Infection. ANRS 095 PRIMOVAC Terminated NCT00196651 Phase 2 IL-2
32 A Phase II Study of Liposomal Doxorubicin (Lipo-Dox) in Patients With Brain Metastasis From Breast Cancer Terminated NCT00465673 Phase 2 Liposomal Doxorubicin
33 A Phase I/II Study of Lapatinib (Tykerb) Plus Liposomal Doxorubicin Hydrochloride ( Lipo-Dox) for Patients With ErbB2 Positive Metastatic Breast Cancer Terminated NCT01658358 Phase 1, Phase 2 Lapatinib;Lipo-Dox
34 Phase 1, Multicenter, Randomized, Double-Blind, Placebo-Controlled, Sequential Dose-Escalation Study of the Pharmacokinetics, Safety, and Efficacy of ATX-101 (Sodium Deoxycholate for Injection) Intralipomal Injections for the Treatment of Superficial Lipomas Completed NCT00422188 Phase 1 Deoxycholic Acid Injection;Placebo
35 An Evaluation of the Pharmacokinetics and Safety of LIPO-102 in Healthy Volunteers Completed NCT00918606 Phase 1 LIPO-102
36 Early Screening of Breast Cancer Using Radiation-Free Pressure-Free Optical Scanning Unknown status NCT00671385
37 Insight Into Subcutaneous Adipose Tissue Disorders As Part of The TREAT Program (Treatment, Research, Education, Adipose Tissue) at the University of Arizona Unknown status NCT02838277
38 Developing a Biomarker for Monitoring Clinical Outcomes in Children With Spinal Lipoma Unknown status NCT02722681
39 Identification of Mutations Responsible for Rare Familial Skin Diseases by Next Generation Sequencing Unknown status NCT02509650
40 Ultrasound-Guided Regional Blockade for Lipoma Excision: a New Approach to an Old Technique Completed NCT02753361
41 Intraoperative Folate Targeted Fluorescence in Renal Cell Carcinoma Completed NCT02645409 OTL38
42 Evaluation of the Efficacy and Tolerability of Autologous Adipose Tissue Derived Stem Cells on Facial Rejuvenation Completed NCT03928444
43 Effect of Adipose Derived Stem Cells on Survival of Fat as Filler Completed NCT03965936
44 A Post Marketing Surveillance Study of Lipo-AB® (Amphotericin B) in Neutropenic Patients With Persistent Fever Completed NCT03511820 Lipo-AB® (amphotericin B) liposome
45 Ultrasound Characterization of Lipo-hypertrophy in Type 1 Diabetes Mellitus Completed NCT02278926
46 Randomized Multicenter Crossover Study to Compare the Plasmat® Futura Heparin Induced Extracorporeal Lower Density Lipo-Protein (LDL) Precipitation (H.E.L.P.) Apheresis System to the Approved Secura System in the Reduction of LDL-c in Patients With Hypercholesterolemia Completed NCT00526058
47 Identification of a New Blood Biomarker for the Diagnosis and Prognosis of Liposarcomas Recruiting NCT04224064
48 Delayed Breast Reconstruction by Prepectoral Implant After Lipo-preparation : Feasibility, Complications, Evaluation of Aesthetic Result and Quality of Life. Recruiting NCT04343820
49 Retrospective Effectiveness Study of Dalbavancin and Other Standard of Care of the Same Class (i.v. Lipo and Glyco-peptides) in Patients With ABSSSI Recruiting NCT04298463 Xydalba;vancomycin, teicoplanin or daptomycin
50 An Investigator-initiated Study Assessing the Effect of Intermittent Pneumatic Compression (IPC) on Symptoms and Quality of Life in Women With Lipo-lymphedema (Lipedema With Swelling) Recruiting NCT04213989

Search NIH Clinical Center for Lipomatosis, Multiple

Cochrane evidence based reviews: neoplasms, adipose tissue

Sources

Genetic Tests for Lipomatosis, Multiple

About this section

Genetic tests related to Lipomatosis, Multiple:

# Genetic test Affiliating Genes
1 Lipomatosis, Multiple 29
Sources

Anatomical Context for Lipomatosis, Multiple

About this section

MalaCards organs/tissues related to Lipomatosis, Multiple:

40
Colon, Spinal Cord, Breast, Tongue, Bone, Heart, Liver
Sources

Publications for Lipomatosis, Multiple

About this section

Articles related to Lipomatosis, Multiple:

(show top 50) (show all 9052)
# Title Authors PMID Year
1
Transgenic mice expressing a truncated form of the high mobility group I-C protein develop adiposity and an abnormally high prevalence of lipomas. 54 57
10747931 2000
2
Chromosome 12 breakpoints are cytogenetically different in benign and malignant lipogenic tumors: localization of breakpoints in lipoma to 12q15 and in myxoid liposarcoma to 12q13.3. 61 57
8453640 1993
3
Different karyotypic features characterize different clinico-pathologic subgroups of benign lipogenic tumors. 57 61
3192332 1988
4
Breakpoints in benign lipoma may be at 12q13 or 12q14. 61 57
3203294 1988
5
Cytogenetic studies of adipose tissue tumors. I. A benign lipoma with reciprocal translocation t(3;12)(q28;q14). 61 57
3779624 1986
6
Reciprocal translocation t(3;12)(q27;q13) in lipoma. 57 61
3779626 1986
7
Encephalocraniocutaneous lipomatosis (ECCL) in a patient with history of familial multiple lipomatosis (FML). 57
19215040 2009
8
Constitutional rearrangement of the architectural factor HMGA2: a novel human phenotype including overgrowth and lipomas. 57
15593017 2005
9
Familial multiple lipomatosis. 57
12516905 2002
10
Recurrent rearrangements in the high mobility group protein gene, HMGI-C, in benign mesenchymal tumours. 57
7670494 1995
11
Cytogenetic profile of 109 lipomas. 57
1988102 1991
12
Consistent involvement of band 12q14 in two different translocations in three lipomas from the same patient. 57
3349440 1988
13
Recurrent chromosome translocations in liposarcoma. 57
3955533 1986
14
Analysis of a large pedigree with elliptocytosis, multiple lipomatosis, and biological false-positive serological test for syphilis. 57
7395901 1980
15
Familial multiple lipomatosis. 57
71835 1977
16
Familial multiple lipomatosis. 57
13472574 1957
17
Familial multiple lipomatosis. 57
14903312 1951
18
[Lipoma and atypical lipomatous tumor within the same neoplasia: Evidence for a continuous transition]. 61 54
20063101 2010
19
Specificity of fusion genes in adipocytic tumors. 61 54
20332486 2010
20
Fusion of HMGA1 to the LPP/TPRG1 intergenic region in a lipoma identified by mapping paraffin-embedded tissues. 61 54
19963137 2010
21
Carboxypeptidase M: a biomarker for the discrimination of well-differentiated liposarcoma from lipoma. 61 54
19820690 2009
22
HMGA2-NFIB fusion in a pediatric intramuscular lipoma: a novel case of NFIB alteration in a large deep-seated adipocytic tumor. 54 61
19837271 2009
23
The multiple endocrine neoplasia type 1 (MEN1) tumor suppressor regulates peroxisome proliferator-activated receptor gamma-dependent adipocyte differentiation. 61 54
19596783 2009
24
Identification of novel HMGA2 fusion sequences in lipoma: evidence that deletion of let-7 miRNA consensus binding site 1 in the HMGA2 3' UTR is not critical for HMGA2 transcriptional upregulation. 61 54
19431195 2009
25
Cell Adhesion and Transcriptional Activity - Defining the Role of the Novel Protooncogene LPP. 61 54
19701494 2009
26
Expression of HMGA2-LPP and LPP-HMGA2 fusion genes in lipoma: identification of a novel type of LPP-HMGA2 transcript in four cases. 54 61
19528502 2009
27
p16 immunohistochemistry as an alternative marker to distinguish atypical lipomatous tumor from deep-seated lipoma. 61 54
18779733 2009
28
NFIB rearrangement in superficial, retroperitoneal, and colonic lipomas with aberrations involving chromosome band 9p22. 61 54
18663748 2008
29
Cytogenetic and molecular cytogenetic findings in lipoblastoma. 61 54
18474299 2008
30
Identification of novel methylation markers in cervical cancer using restriction landmark genomic scanning. 61 54
18381458 2008
31
Clinicopathological features of lipomas with gene fusions involving HMGA2. 54 61
18383898 2008
32
Spindle cell lipoma. 61 54
17585537 2007
33
Identification and characterization of novel human transcripts embedded within HMGA2 in t(12;14)(q15;q24.1) uterine leiomyoma. 54 61
17045619 2006
34
Cutaneous lipoma in children: 5 cases with Bannayan-Riley-Ruvalcaba syndrome. 54 61
16952599 2006
35
Fusion of the HMGA2 and NFIB genes in lipoma. 54 61
16133369 2005
36
Extensive expression studies revealed a complex alternative splicing pattern of the HMGA2 gene. 61 54
15882911 2005
37
Transactivation functions of the tumor-specific HMGA2/LPP fusion protein are augmented by wild-type HMGA2. 61 54
15755872 2005
38
Phosphorylation of mouse LASP-1 on threonine 156 by cAMP- and cGMP-dependent protein kinase. 61 54
15465019 2004
39
Identification of differentially expressed genes in clinically distinct groups of serous ovarian carcinomas using cDNA microarray. 61 54
15202015 2004
40
Well-differentiated liposarcoma associated with benign lipoma. 61 54
15154619 2004
41
HMGA2 is expressed in an allele-specific manner in human lipomas. 61 54
12781451 2003
42
[From cytogenetics to cytogenomics of adipose tissue tumors: 1. Benign adipose tissue tumors]. 54 61
12206982 2002
43
Large deletion of part of the HMGIC locus accompanying a t(3;12)(q27 approximately q28;q14 approximately q15) in a lipoma. 61 54
11566348 2001
44
Multiple lipomas linked to an RB1 gene mutation in a large pedigree with low penetrance retinoblastoma. 61 54
11571558 2001
45
Human LPP gene is fused to MLL in a secondary acute leukemia with a t(3;11) (q28;q23). 61 54
11433529 2001
46
Distinction between lipoma and liposarcoma by MDM2 alterations: a case report of simultaneously occurring tumors and review of the literature. 61 54
11518050 2001
47
Thymic carcinoid in a patient with multiple endocrine neoplasia type 1: report of a case. 54 61
11381507 2001
48
A novel LPP fusion gene indicates the crucial role of truncated LPP proteins in lipomas and pulmonary chondroid hamartomas. 61 54
12063392 2001
49
Uncoupling protein-1 mRNA expression in lipomas from patients bearing pathogenic mitochondrial DNA mutations. 61 54
11095987 2000
50
A t(2;19)(p13;p13.2) in a giant invasive cardiac lipoma from a patient with multiple lipomatosis. 54 61
10824997 2000
Sources

Variations for Lipomatosis, Multiple

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Copy number variations for Lipomatosis, Multiple from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 173076 3 189413414 190080135 Translate LPP Lipoma
Sources

Expression for Lipomatosis, Multiple

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Search GEO for disease gene expression data for Lipomatosis, Multiple.
Sources

Pathways for Lipomatosis, Multiple

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Pathways related to Lipomatosis, Multiple according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Chromatin Regulation / Acetylation 4
12.11 MEN1 HMGA2 HMGA1 FUS
2
Integrated Breast Cancer Pathway 1
11.75 PTEN NF1 MDM2 CDK4
3
Glioblastoma Multiforme 63
11.5 PTEN NF1 MDM2 CDK4
4
Transcriptional misregulation in cancer 36
11.3 MEN1 MDM2 HMGA2 FUS DDIT3
5
ATF-2 transcription factor network 1
11.28 NF1 DDIT3 CDK4
6
Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers 64
11.23 UCP1 KIT DES CD34
7
Integrated Cancer Pathway 1
11.16 PTEN MDM2 CDK4
Sources

GO Terms for Lipomatosis, Multiple

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Cellular components related to Lipomatosis, Multiple according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.17 ZYX TRIP6 SPRED1 PTEN NF1 MEN1
2 cytosol GO:0005829 9.97 ZYX TRIP6 SPRED1 PTEN PLAG1 NF1
3 nucleus GO:0005634 9.53 ZYX TRIP6 SPRED1 SERPINA3 PTEN PLAG1
4 stress fiber GO:0001725 9.43 ZYX TRIP6 LPP
5 senescence-associated heterochromatin focus GO:0035985 8.96 HMGA2 HMGA1

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

# Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.71 SPRED1 NF1 MEN1 KIT
2 negative regulation of cell cycle G1/S phase transition GO:1902807 9.37 PTEN MEN1
3 forebrain morphogenesis GO:0048853 9.32 PTEN NF1
4 prostate gland growth GO:0060736 9.26 PTEN PLAG1
5 oncogene-induced cell senescence GO:0090402 9.16 HMGA2 HMGA1
6 positive regulation of gene expression GO:0010628 9.1 PTEN PLAG1 MDM2 KIT HMGA2 CD34
7 senescence-associated heterochromatin focus assembly GO:0035986 8.96 HMGA2 HMGA1

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

# Name GO ID Score Top Affiliating Genes
1 peroxisome proliferator activated receptor binding GO:0042975 9.26 MDM2 HMGA1
2 DNA-(apurinic or apyrimidinic site) endonuclease activity GO:0003906 9.16 HMGA2 HMGA1
3 AT DNA binding GO:0003680 8.96 HMGA2 HMGA1
4 5'-deoxyribose-5-phosphate lyase activity GO:0051575 8.62 HMGA2 HMGA1
Sources

Sources for Lipomatosis, Multiple

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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