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FML
MCID: LPM012
MIFTS: 60

Lipomatosis, Multiple (FML)

Categories: Cancer diseases, Genetic diseases, Metabolic diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Lipomatosis, Multiple

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MalaCards integrated aliases for Lipomatosis, Multiple:

Name: Lipomatosis, Multiple 57 71
Lipoma 57 11 53 14 16 71 33
Familial Multiple Lipomatosis 19 58 75 28
Lipomatosis, Familial Multiple 57 11
Benign Lipomatous Tumor 11 71
Multiple Lipomatosis 11 19
Lipomatous Neoplasm 11 71
Benign Tumor of Adipose Tissue 11
Neoplasms, Adipose Tissue 43
Tumor of Adipose Tissue 11
Lipomatous Tumor 11
Lipomas 14
Lipo 57
Fml 57

Characteristics:


Inheritance:

Autosomal dominant 57

Classifications:

MalaCards categories:
Global: Rare diseases Cancer diseases Genetic diseases Metabolic diseases
Anatomical: Skin diseases
See all MalaCards categories (disease lists)
ICD10: 31 32
ICD11: 33
Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 11 DOID:3315
OMIM® 57 151900
ICD9CM 34 214
ICD10 31 D17 D17.9
ICD10 via Orphanet 32 E88.2
UMLS via Orphanet 72 C3489413
Orphanet 58 ORPHA199276
MedGen 40 C3489413
ICD11 33 1090000716
UMLS 71 C0023798 C0206631 C0346118 more
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Summaries for Lipomatosis, Multiple

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GARD: 19 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.

MalaCards based summary: Lipomatosis, Multiple, also known as lipoma, is related to lipoma of spermatic cord and conventional lipoma. An important gene associated with Lipomatosis, Multiple is HMGA2 (High Mobility Group AT-Hook 2), and among its related pathways/superpathways are Endometrial cancer and Malignant pleural mesothelioma. The drugs Acetylsalicylic acid and Clopidogrel have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and spinal cord, and related phenotypes are lipodystrophy and insulin resistance

Orphanet: 58 Familial multiple lipomatosis is a rare, benign, genetic skin disease characterized by numerous, painless, encapsulated lipomas located in the subcutaneous adipose tissue of the trunk and extremities, with relative sparing of the neck and shoulders. Association with gastroduodenal lipomatosis, brain anomalies or lipomatosis, and refractory epilepsy has been reported.

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 08-Dec-2022)

Disease Ontology: 11 A cell type benign neoplasm that is composed of lipocytes.

Wikipedia: 75 Familial multiple lipomatosis is a hereditary adipose tissue disorder that is characterized by the... more...
Sources

Related Diseases for Lipomatosis, Multiple

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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 1340)
# Related Disease Score Top Affiliating Genes
1 lipoma of spermatic cord 32.7 MDM2 CDK4
2 conventional lipoma 32.7 PLAG1 MDM2 HMGA2
3 spindle cell lipoma 32.5 PLAG1 MDM2 HMGA2 DDIT3 CDK4 CD34
4 chondroid lipoma 32.5 PLAG1 MDM2 HMGA2 FUS CD34
5 skin lipoma 32.3 PTEN NF1 MEN1 HMGA2
6 axillary lipoma 32.3 UCP1 KIT
7 paratesticular lipoma 32.3 MDM2 CDK4
8 angiolipoma 32.3 MDM2 DES CD34
9 chest wall lipoma 32.2 NF1 MDM2 HMGA2 CDK4
10 lipoma of colon 32.2 PTEN MDM2 KIT HMGA2 CDK4
11 thymus lipoma 32.2 MDM2 HMGA2
12 infiltrating lipoma 32.1 MDM2 LPP LHFPL6 HMGA2 CDK4 CD34
13 large intestine lipoma 32.0 PTEN MDM2 KIT HMGA2 CDK4
14 pleomorphic lipoma 31.7 MDM2 LHFPL6 HMGA2 FUS DDIT3 CDK4
15 well-differentiated liposarcoma 31.4 SERPINA3 PLAG1 NF1 MDM2 KIT HMGA2
16 liposarcoma 31.0 PTEN NF1 MDM2 HMGA2 FUS DES
17 adenoma 30.9 PLAG1 MEN1 HMGA2 HMGA1
18 mesenchymal cell neoplasm 30.8 SERPINA3 NF1 MDM2 KIT HMGA2 CD34
19 inguinal hernia 30.8 NF1 KIT CD34
20 hemangioma 30.6 PTEN MEN1 KIT CD34
21 leiomyoma 30.6 S100A1 KIT HMGA2 DES CD34
22 chondrosarcoma 30.6 SERPINA3 S100A1 MDM2 DES CDK4
23 connective tissue benign neoplasm 30.6 SERPINA3 NF1 MDM2 KIT CDK4 CD34
24 angiomyolipoma 30.5 S100A1 KIT DES
25 fibroma 30.5 SERPINA3 S100A1 NF1 DES CD34
26 arteriovenous malformation 30.5 SERPINA3 NF1 CD34
27 spinal cord disease 30.5 SERPINA3 PTEN NF1
28 myxoid liposarcoma 30.5 PLAG1 MDM2 KIT HMGA2 FUS DDIT3
29 fibrous histiocytoma 30.4 SERPINA3 FUS DES CD34
30 pleomorphic adenoma 30.4 S100A1 PLAG1 MDM2 HMGA2 DES
31 cutaneous fibrous histiocytoma 30.4 SERPINA3 S100A1 DES CD34
32 neurofibroma 30.4 S100A1 PTEN NF1 KIT CD34
33 heart cancer 30.4 SERPINA3 MDM2 KIT CD34
34 congenital heart defects, hamartomas of tongue, and polysyndactyly 30.4 PTEN HMGA2
35 myoma 30.3 KIT HMGA2 CD34
36 chondroma 30.3 S100A1 NF1 KIT HMGA2
37 parosteal osteosarcoma 30.3 MDM2 CDK4
38 spindle cell liposarcoma 30.3 MDM2 CDK4 CD34
39 small intestine cancer 30.3 PTEN NF1 MEN1
40 cystadenoma 30.3 SERPINA3 PTEN KIT
41 pelvic lipomatosis 30.3 HMGA2 HMGA1
42 cellular myxoid liposarcoma 30.2 SERPINA3 MDM2 FUS DDIT3 CDK4
43 neurilemmoma 30.2 SERPINA3 S100A1 NF1 KIT DES CD34
44 chondrosarcoma, extraskeletal myxoid 30.2 PLAG1 KIT FUS DDIT3 CD34
45 lipomatosis 30.1 UCP1 PTEN MEN1 HMGA2
46 breast malignant phyllodes tumor 30.1 SERPINA3 KIT CD34
47 granular cell tumor 30.1 SERPINA3 S100A1 DES
48 neuroma 30.1 SERPINA3 NF1 KIT CD34
49 angiosarcoma 30.1 SERPINA3 MDM2 KIT CD34
50 sclerosing liposarcoma 30.1 MDM2 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 30 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 lipodystrophy 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0009125
2 insulin resistance 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000855
3 increased adipose tissue 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0009126
4 hyperlipidemia 58 30 Frequent (33%) Frequent (79-30%)
 HP:0003077
5 peripheral neuropathy 58 30 Frequent (33%) Frequent (79-30%)
 HP:0009830
6 functional intestinal obstruction 58 30 Frequent (33%) Frequent (79-30%)
 HP:0005249
7 macrocephaly 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000256
8 seizure 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001250
9 cerebral calcification 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002514
10 bowing of the long bones 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0006487
11 delayed speech and language development 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000750
12 ventriculomegaly 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002119
13 abnormal tricuspid valve morphology 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001702
14 accelerated skeletal maturation 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0005616
15 hypoplasia of the corpus callosum 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002079
16 coloboma 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000589
17 premature eruption of permanent teeth 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0006337
18 arachnoid cyst 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0100702
19 medulloblastoma 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002885
20 overgrowth 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001548
21 chorioretinitis 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0012424
22 odontogenic keratocysts of the jaw 30 Occasional (7.5%) HP:0010603
23 multiple lipomas 30 HP:0001012
24 keratocystic odontogenic tumor 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skin:
lipomatosis

Lab:
frequent rearrangements at 12q13 or 12q14

Clinical features from OMIM®:

151900 (Updated 08-Dec-2022)

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.2 CD34 CDK4 DDIT3 DES FUS HMGA1
2 no effect GR00402-S-2 10.2 CD34 CDK4 DDIT3 DES FUS HMGA1
3 Reduced mammosphere formation GR00396-S 9.5 CD34 CDK4 DDIT3 DES MDM2 MEN1

MGI Mouse Phenotypes related to Lipomatosis, Multiple:

45 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.43 CD34 CDK4 DDIT3 DES FUS HMGA1
2 growth/size/body region MP:0005378 10.27 CDK4 DDIT3 FUS HMGA1 HMGA2 KIT
3 cellular MP:0005384 10.27 CD34 CDK4 DDIT3 DES FUS HMGA2
4 neoplasm MP:0002006 10.22 CD34 CDK4 DDIT3 HMGA1 HMGA2 KIT
5 endocrine/exocrine gland MP:0005379 10.17 CDK4 DDIT3 FUS HMGA1 HMGA2 KIT
6 normal MP:0002873 10.16 CDK4 FUS KIT MDM2 MEN1 NF1
7 muscle MP:0005369 10.1 CDK4 DES KIT MDM2 MEN1 NF1
8 behavior/neurological MP:0005386 10.1 CDK4 DDIT3 DES FUS HMGA1 HMGA2
9 cardiovascular system MP:0005385 10.06 CDK4 DDIT3 DES HMGA1 KIT MDM2
10 craniofacial MP:0005382 10.01 CDK4 HMGA2 KIT MDM2 MEN1 NF1
11 immune system MP:0005387 9.97 CD34 CDK4 DDIT3 FUS HMGA1 KIT
12 reproductive system MP:0005389 9.7 CDK4 FUS HMGA1 HMGA2 KIT LPP
13 hematopoietic system MP:0005397 9.44 CD34 CDK4 DDIT3 FUS HMGA1 KIT
Sources

Drugs & Therapeutics for Lipomatosis, Multiple

About this section

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

(show top 50) (show all 89)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylsalicylic acid Approved, Vet_approved Phase 4 50-78-2 2244
2
Clopidogrel Approved Phase 4 120202-66-6, 113665-84-2 60606
3 Purinergic P2Y Receptor Antagonists Phase 4
4 Hormones Phase 4
5 Hormone Antagonists Phase 4
6
Sitagliptin Phosphate Phase 4 654671-77-9
7 HIV Protease Inhibitors Phase 4
8 Hypoglycemic Agents Phase 4
9 Dipeptidyl-Peptidase IV Inhibitors Phase 4
10 Incretins Phase 4
11
protease inhibitors Phase 4
12 Vasodilator Agents Phase 4
13 Platelet Aggregation Inhibitors Phase 4
14
Alprostadil Approved, Investigational Phase 2, Phase 3 745-65-3 5280723
15
Hydrocortisone succinate Approved Phase 3 2203-97-6 3643
16
Hydrocortisone acetate Approved, Vet_approved Phase 3 50-03-3
17
Hydrocortisone Approved, Vet_approved Phase 3 50-23-7 3640 5754
18
Creatine Approved, Investigational, Nutraceutical Phase 3 57-00-1 586
19 Bronchodilator Agents Phase 3
20 Adrenergic beta-Agonists Phase 3
21 Anti-Asthmatic Agents Phase 3
22 Adrenergic Agonists Phase 3
23 Adrenergic Agents Phase 3
24 Neurotransmitter Agents Phase 3
25 Respiratory System Agents Phase 3
26
Salmeterol Xinafoate Phase 3 94749-08-3
27 Liver Extracts Phase 2, Phase 3
28
bilirubin Phase 2, Phase 3 635-65-4 5280352
29 Anti-Inflammatory Agents Phase 3
30 Hydrocortisone 17-butyrate 21-propionate Phase 3
31
Fluorouracil Approved Phase 2 51-21-8 3385
32
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
33
Deoxycholic acid Approved Phase 2 83-44-3 222528
34
Isoprenaline Approved, Investigational Phase 1, Phase 2 7683-59-2 3779
35
Prednisolone phosphate Approved, Vet_approved Phase 1, Phase 2 302-25-0
36
Prednisolone acetate Approved, Vet_approved Phase 1, Phase 2 52-21-1
37
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 4894 5755
38
Methylprednisolone hemisuccinate Approved Phase 1, Phase 2 2921-57-5 1875
39
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 4159 6741
40
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
41
Lapatinib Approved, Investigational Phase 1, Phase 2 231277-92-2, 388082-78-8 208908
42
D-Tyrosine Approved, Experimental, Investigational, Nutraceutical Phase 1, Phase 2 133585-56-5, 60-18-4, 556-02-5 1153 6057
43
Prednisolone hemisuccinate Experimental Phase 1, Phase 2 2920-86-7 4897
44
Cortisone Experimental Phase 1, Phase 2 53-06-5 222786
45 Gastrointestinal Agents Phase 2
46 Cardiotonic Agents Phase 1, Phase 2
47 Antineoplastic Agents, Hormonal Phase 1, Phase 2
48 Neuroprotective Agents Phase 1, Phase 2
49 Antiemetics Phase 1, Phase 2
50 Pharmaceutical Solutions Phase 1, Phase 2

Interventional clinical trials:

(show all 49)
# 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 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
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 Pharmacokinetic Study of Lipo-PGE1 for Prevention of VOD After HSCT Active, not recruiting NCT02338440 Phase 2, Phase 3 lipoprostaglandin E1
8 Hydrocortisone Treatment for Symmetric Lipomatosis Associated With Neuropathy (SLN): an N-of-1 Study Not yet recruiting NCT04821583 Phase 3 Hydrocortisone;Placebo
9 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
10 An Open-Label Study to Evaluate Retreatment With LIPO-202 Unknown status NCT02397525 Phase 2 LIPO-202
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 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
13 A Dose Escalation Study Using Collagenase Clostridium Histolyticum in the Treatment of Lipoma Completed NCT01613313 Phase 2 Collagenase Clostridium Histolyticum
14 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
15 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
16 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
17 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
18 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
19 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
20 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
21 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
22 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
23 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
24 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
25 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
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 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
28 An Open-Label, Randomized Phase 2a Study to Evaluate the Efficacy and Safety of CBL-514 in Participants With Dercum's Disease Lipomas Recruiting NCT05387733 Phase 2 10 mg CBL-514 per injection;15 mg CBL-514 per injection
29 A Phase II Study of Liposomal Doxorubicin (Lipo-Dox) in Patients With Brain Metastasis From Breast Cancer Terminated NCT00465673 Phase 2 Liposomal Doxorubicin
30 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
31 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
32 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
33 An Evaluation of the Pharmacokinetics and Safety of LIPO-102 in Healthy Volunteers Completed NCT00918606 Phase 1 LIPO-102
34 Evaluation of Safety and Efficiency of Metreleptin Treatment for Patients With Multiple Symmetric Lipomatosis (MSL) Not yet recruiting NCT05351164 Phase 1 Metreleptin
35 Developing a Biomarker for Monitoring Clinical Outcomes in Children With Spinal Lipoma Unknown status NCT02722681
36 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
37 Identification of Mutations Responsible for Rare Familial Skin Diseases by Next Generation Sequencing Unknown status NCT02509650
38 Ultrasound-Guided Regional Blockade for Lipoma Excision: a New Approach to an Old Technique Completed NCT02753361
39 Inzisionelle Negative Drucktherapie Nach Resektion Von Weichteiltumoren - Eine Prospektive, Randomisierte, Kontrollierte Klinische Studie Completed NCT03900078
40 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) Completed NCT04213989
41 Ultrasound Characterization of Lipo-hypertrophy in Type 1 Diabetes Mellitus Completed NCT02278926
42 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
43 Retrospective Effectiveness Study of Dalbavancin and Other Standard of Care of the Same Class (i.v. Lipo and Glyco-peptides) in Patients With ABSSSI Completed NCT04298463 Xydalba;vancomycin, teicoplanin or daptomycin
44 Effect of 60-days Saccharomyces Boulardii and Superoxide Dismutase Supplementation on Body Composition, Hunger Sensation, Pro/Antioxidant Ratio, Inflammation and Hormonal Lipo-metabolic Biomarkers in Obese Adults: a Double-blind, Placebo-controlled Trial Completed NCT04919850
45 A Post Marketing Surveillance Study of Lipo-AB® (Amphotericin B) in Neutropenic Patients With Persistent Fever Completed NCT03511820 Lipo-AB® (amphotericin B) liposome
46 Identification of a New Blood Biomarker for the Diagnosis and Prognosis of Liposarcomas Recruiting NCT04224064
47 Evaluation of the Efficacy of "Aquoral Lipo" Artificial Tears in Contact Lens Wearers With Discomfort Symptoms Recruiting NCT05290727
48 Delayed Breast Reconstruction by Prepectoral Implant After Lipo-preparation : Feasibility, Complications, Evaluation of Aesthetic Result and Quality of Life. Active, not recruiting NCT04343820
49 Oral and Buccal Evaluation of Mobile Beach Workers Suspended NCT04236700

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 Familial Multiple Lipomatosis 28
Sources

Anatomical Context for Lipomatosis, Multiple

About this section

Organs/tissues related to Lipomatosis, Multiple:

MalaCards : Skin, Brain, Spinal Cord, Breast, Colon, Eye, Small Intestine
Sources

Publications for Lipomatosis, Multiple

About this section

Articles related to Lipomatosis, Multiple:

(show top 50) (show all 14464)
# 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. 53 62 57
10747931 2000
2
Encephalocraniocutaneous lipomatosis (ECCL) in a patient with history of familial multiple lipomatosis (FML). 62 57
19215040 2009
3
Constitutional rearrangement of the architectural factor HMGA2: a novel human phenotype including overgrowth and lipomas. 62 57
15593017 2005
4
Familial multiple lipomatosis. 62 57
12516905 2002
5
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. 62 57
8453640 1993
6
Cytogenetic profile of 109 lipomas. 62 57
1988102 1991
7
Different karyotypic features characterize different clinico-pathologic subgroups of benign lipogenic tumors. 62 57
3192332 1988
8
Breakpoints in benign lipoma may be at 12q13 or 12q14. 62 57
3203294 1988
9
Consistent involvement of band 12q14 in two different translocations in three lipomas from the same patient. 62 57
3349440 1988
10
Cytogenetic studies of adipose tissue tumors. I. A benign lipoma with reciprocal translocation t(3;12)(q28;q14). 62 57
3779624 1986
11
Reciprocal translocation t(3;12)(q27;q13) in lipoma. 62 57
3779626 1986
12
Analysis of a large pedigree with elliptocytosis, multiple lipomatosis, and biological false-positive serological test for syphilis. 62 57
7395901 1980
13
Familial multiple lipomatosis. 62 57
71835 1977
14
Familial multiple lipomatosis. 62 57
13472574 1957
15
Familial multiple lipomatosis. 62 57
14903312 1951
16
Recurrent rearrangements in the high mobility group protein gene, HMGI-C, in benign mesenchymal tumours. 57
7670494 1995
17
Recurrent chromosome translocations in liposarcoma. 57
3955533 1986
18
Intestinal lipomatosis. 57
14417241 1959
19
[Lipoma and atypical lipomatous tumor within the same neoplasia: Evidence for a continuous transition]. 53 62
20063101 2010
20
Specificity of fusion genes in adipocytic tumors. 53 62
20332486 2010
21
Fusion of HMGA1 to the LPP/TPRG1 intergenic region in a lipoma identified by mapping paraffin-embedded tissues. 53 62
19963137 2010
22
Oncocytic lipoadenoma of the parotid gland: Immunohistochemical and cytogenetic analysis. 53 62
19346081 2010
23
Carboxypeptidase M: a biomarker for the discrimination of well-differentiated liposarcoma from lipoma. 53 62
19820690 2009
24
HMGA2-NFIB fusion in a pediatric intramuscular lipoma: a novel case of NFIB alteration in a large deep-seated adipocytic tumor. 53 62
19837271 2009
25
The multiple endocrine neoplasia type 1 (MEN1) tumor suppressor regulates peroxisome proliferator-activated receptor gamma-dependent adipocyte differentiation. 53 62
19596783 2009
26
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. 53 62
19431195 2009
27
Cell Adhesion and Transcriptional Activity - Defining the Role of the Novel Protooncogene LPP. 53 62
19701494 2009
28
Expression of HMGA2-LPP and LPP-HMGA2 fusion genes in lipoma: identification of a novel type of LPP-HMGA2 transcript in four cases. 53 62
19528502 2009
29
Thymolipoma: clues to pathogenesis revealed by cytogenetics. 53 62
19433298 2009
30
p16 immunohistochemistry as an alternative marker to distinguish atypical lipomatous tumor from deep-seated lipoma. 53 62
18779733 2009
31
NFIB rearrangement in superficial, retroperitoneal, and colonic lipomas with aberrations involving chromosome band 9p22. 53 62
18663748 2008
32
Cytogenetic and molecular cytogenetic findings in lipoblastoma. 53 62
18474299 2008
33
Identification of novel methylation markers in cervical cancer using restriction landmark genomic scanning. 53 62
18381458 2008
34
Clinicopathological features of lipomas with gene fusions involving HMGA2. 53 62
18383898 2008
35
Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers. 53 62
17526800 2007
36
Gains and complex rearrangements of the 12q13-15 chromosomal region in ordinary lipomas: the "missing link" between lipomas and liposarcomas? 53 62
17372913 2007
37
Assessment of the clinical and molecular impact of different cytogenetic subgroups in a series of 272 lipomas with abnormal karyotype. 53 62
17370328 2007
38
Identification of the benign mesenchymal tumor gene HMGA2 in lymphangiomyomatosis. 53 62
17332316 2007
39
Spindle cell lipoma. 53 62
17585537 2007
40
Identification and characterization of novel human transcripts embedded within HMGA2 in t(12;14)(q15;q24.1) uterine leiomyoma. 53 62
17045619 2006
41
Cutaneous lipoma in children: 5 cases with Bannayan-Riley-Ruvalcaba syndrome. 53 62
16952599 2006
42
Overexpression of HMGA2-LPP fusion transcripts promotes expression of the alpha 2 type XI collagen gene. 53 62
16375854 2006
43
Truncation and fusion of HMGA2 in lipomas with rearrangements of 5q32-->q33 and 12q14-->q15. 53 62
16276091 2006
44
Fusion of the HMGA2 and NFIB genes in lipoma. 53 62
16133369 2005
45
Testicular lipomatosis in Cowden's syndrome. 53 62
15920539 2005
46
Extensive expression studies revealed a complex alternative splicing pattern of the HMGA2 gene. 53 62
15882911 2005
47
Transactivation functions of the tumor-specific HMGA2/LPP fusion protein are augmented by wild-type HMGA2. 53 62
15755872 2005
48
Phosphorylation of mouse LASP-1 on threonine 156 by cAMP- and cGMP-dependent protein kinase. 53 62
15465019 2004
49
Desmin expression in spindle cell lipomas: a potential diagnostic pitfall. 53 62
15322874 2004
50
Identification of differentially expressed genes in clinically distinct groups of serous ovarian carcinomas using cDNA microarray. 53 62
15202015 2004
Sources

Variations for Lipomatosis, Multiple

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Copy number variations for Lipomatosis, Multiple from CNVD:

6
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 173076 3 189413414 190080135 Translate LPP Lipoma
Sources

Expression for Lipomatosis, Multiple

About this section
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
Endometrial cancer 74
Show member pathways
 12.34 PTEN NF1 MDM2 KIT CDK4
2
Malignant pleural mesothelioma 74
12.27 PTEN MDM2 KIT DDIT3 CDK4
3
Breast cancer pathway 74
Show member pathways
 12.19 PTEN MDM2 KIT CDK4
4
Chromatin Regulation / Acetylation 3
12.14 MEN1 HMGA2 HMGA1 FUS
5
Senescence and autophagy in cancer 74
11.67 PTEN MDM2 HMGA1
6
Integrated breast cancer pathway 74
11.64 PTEN NF1 MDM2 CDK4
7
MECP2 and associated Rett syndrome 74
11.44 PTEN NF1 FUS
8
ATF-2 transcription factor network 61
11.3 NF1 DDIT3 CDK4
9
Mesenchymal Stem Cells and Lineage-specific Markers 65
10.9 UCP1 KIT DES CD34
10
Integrated cancer pathway 74
10.71 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 senescence-associated heterochromatin focus GO:0035985 8.92 HMGA2 HMGA1

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

# Name GO ID Score Top Affiliating Genes
1 DNA-templated transcription GO:0006351 9.72 PLAG1 HMGA2 HMGA1 FUS
2 prostate gland growth GO:0060736 9.67 PTEN PLAG1
3 vascular associated smooth muscle cell proliferation GO:1990874 9.56 NF1 DDIT3
4 oncogene-induced cell senescence GO:0090402 9.46 HMGA2 HMGA1
5 mast cell proliferation GO:0070662 9.26 NF1 KIT
6 vascular associated smooth muscle cell migration GO:1904738 8.92 NF1 DDIT3

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

# Name GO ID Score Top Affiliating Genes
1 5'-deoxyribose-5-phosphate lyase activity GO:0051575 8.8 HMGA2 HMGA1
Sources

Sources for Lipomatosis, Multiple

About this section
2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 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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