MCID: LPM012
MIFTS: 58

Lipomatosis, Multiple

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

Aliases & Classifications for Lipomatosis, Multiple

MalaCards integrated aliases for Lipomatosis, Multiple:

Name: Lipomatosis, Multiple 57 29 73
Lipoma 57 12 29 55 15 73
Lipomatosis, Familial Multiple 57 12
Familial Multiple Lipomatosis 53 59
Benign Lipomatous Tumor 12 73
Multiple Lipomatosis 12 53
Lipomatous Neoplasm 12 73
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
Lipo 57
Fml 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
lipomatosis, multiple:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


Summaries for Lipomatosis, Multiple

NIH Rare Diseases : 53 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 atypical lipomatous tumor and skin lipoma. An important gene associated with Lipomatosis, Multiple is HMGA2 (High Mobility Group AT-Hook 2), and among its related pathways/superpathways are p53 Signaling and Chromatin Regulation / Acetylation. The drugs Cortisone acetate and Isoproterenol have been mentioned in the context of this disorder. Affiliated tissues include bone, endothelial and skin, and related phenotypes are macrocephaly and coloboma

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)

Related Diseases for Lipomatosis, Multiple

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 114)
# Related Disease Score Top Affiliating Genes
1 atypical lipomatous tumor 33.5 CDK4 FUS HMGA2 MDM2
2 skin lipoma 32.5 HMGA2 PTEN
3 pleomorphic lipoma 32.2 CDK4 HMGA2 MDM2
4 lipomatosis 30.8 HMGA2 MEN1 PTEN
5 spindle cell liposarcoma 30.6 CDK4 MDM2
6 well-differentiated liposarcoma 30.4 CDK4 HMGA2 MDM2
7 spindle cell lipoma 30.3 CDK4 DES MDM2
8 liposarcoma 29.2 CDK4 DES FUS HMGA2 MDM2
9 hemihyperplasia-multiple lipomatosis syndrome 12.3
10 lipomatosis, multiple symmetric 12.3
11 neuronal ceroid lipofuscinosis 11.0
12 ring chromosome 7 10.8 CDK4 MDM2
13 ring chromosome 1 10.8 HMGA1 HMGA2
14 undifferentiated embryonal sarcoma of the liver 10.7 CDK4 MDM2
15 infiltrating angiolipoma 10.7 CDK4 MDM2
16 extraosseous osteosarcoma 10.7 CDK4 MDM2
17 inflammatory mfh 10.7 CDK4 MDM2
18 pelvic lipomatosis 10.7 HMGA1 HMGA2
19 bone osteosarcoma 10.7 CDK4 MDM2
20 lipoblastoma 10.7 CDK4 MDM2
21 periosteal chondrosarcoma 10.7 CDK4 MDM2
22 periosteal osteogenic sarcoma 10.6 CDK4 MDM2
23 sclerosing liposarcoma 10.6 FUS MDM2
24 juxtacortical chondroma 10.6 FUS HMGA2
25 small cell sarcoma 10.5 CDK4 MDM2
26 lipoma of colon 10.5 HMGA2 NFIB
27 large intestine lipoma 10.5 HMGA2 NFIB
28 juxtacortical osteosarcoma 10.5 CDK4 MDM2
29 anaplastic ependymoma 10.5 MDM2 PTEN
30 pleomorphic liposarcoma 10.5 DES MDM2
31 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.5 HMGA2 PTEN
32 gliomatosis cerebri 10.4 MDM2 PTEN
33 myxofibrosarcoma 10.4 DES FUS
34 mixed liposarcoma 10.4 CDK4 FUS MDM2
35 connective tissue cancer 10.3 CDK4 FUS MDM2
36 spindle cell sarcoma 10.3 DES MDM2
37 histiocytoma 10.3 CDK4 FUS MDM2
38 mesenchymoma 10.3 DES HMGA2 MDM2
39 acute t cell leukemia 10.3 LPP PTEN
40 grade iii astrocytoma 10.3 CDK4 MDM2 PTEN
41 extraskeletal ewing sarcoma 10.3 DES FUS
42 sarcoma, synovial 10.3 DES HMGA2 MDM2
43 smooth muscle tumor 10.3 DES HMGA2
44 malignant fibrous histiocytoma of bone 10.3 CDK4 DES MDM2
45 ischemic fasciitis 10.3 CDK4 DES MDM2
46 embryonal sarcoma 10.3 CDK4 DES MDM2
47 malignant fibroxanthoma 10.3 CDK4 DES MDM2
48 malignant mesenchymoma 10.3 CDK4 DES MDM2
49 malignant ectomesenchymoma 10.2 DES HMGA1 HMGA2
50 skin melanoma 10.2 CDK4 MDM2 PTEN

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



Diseases related to Lipomatosis, Multiple

Symptoms & Phenotypes for Lipomatosis, Multiple

Symptoms via clinical synopsis from OMIM:

57
Skin:
lipomatosis

Lab:
frequent rearrangements at 12q13 or 12q14


Clinical features from OMIM:

151900

Human phenotypes related to Lipomatosis, Multiple:

59 32 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000256
2 coloboma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000589
3 delayed speech and language development 59 32 occasional (7.5%) Occasional (29-5%) HP:0000750
4 insulin resistance 59 32 hallmark (90%) Very frequent (99-80%) HP:0000855
5 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
6 overgrowth 59 32 occasional (7.5%) Occasional (29-5%) HP:0001548
7 hypoplasia of the corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0002079
8 ventriculomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002119
9 cerebral calcification 59 32 occasional (7.5%) Occasional (29-5%) HP:0002514
10 medulloblastoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002885
11 bowing of the long bones 59 32 occasional (7.5%) Occasional (29-5%) HP:0006487
12 hyperlipidemia 59 32 frequent (33%) Frequent (79-30%) HP:0003077
13 peripheral neuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0009830
14 functional intestinal obstruction 59 32 frequent (33%) Frequent (79-30%) HP:0005249
15 accelerated skeletal maturation 59 32 occasional (7.5%) Occasional (29-5%) HP:0005616
16 premature eruption of permanent teeth 59 32 occasional (7.5%) Occasional (29-5%) HP:0006337
17 lipodystrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0009125
18 increased adipose tissue 59 32 hallmark (90%) Very frequent (99-80%) HP:0009126
19 chorioretinitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0012424
20 arachnoid cyst 59 32 occasional (7.5%) Occasional (29-5%) HP:0100702
21 abnormality of the tricuspid valve 59 Occasional (29-5%)
22 keratocystic odontogenic tumor 59 Occasional (29-5%)
23 multiple lipomas 32 HP:0001012
24 abnormal tricuspid valve morphology 32 occasional (7.5%) HP:0001702
25 odontogenic keratocysts of the jaw 32 occasional (7.5%) HP:0010603

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

26 (show all 24)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.77 NFIB
2 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.77 FUS MEN1 NFIB CDK4
3 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.77 CDK4
4 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.77 MEN1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.77 MEN1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.77 FUS
7 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.77 MEN1 NFIB
8 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.77 FUS
9 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.77 CDK4
10 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.77 FUS
11 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.77 NFIB
12 Increased shRNA abundance (Z-score > 2) GR00366-A-3 9.77 FUS
13 Increased shRNA abundance (Z-score > 2) GR00366-A-35 9.77 NFIB
14 Increased shRNA abundance (Z-score > 2) GR00366-A-39 9.77 FUS
15 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.77 CDK4
16 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.77 MEN1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.77 CDK4
18 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.77 MEN1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.77 MEN1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.77 FUS
21 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.77 FUS
22 Increased shRNA abundance (Z-score > 2) GR00366-A-78 9.77 FUS
23 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.77 MEN1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.77 CDK4

MGI Mouse Phenotypes related to Lipomatosis, Multiple:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.97 ALX3 CDK4 DES LPP MDM2 MEN1
2 digestive/alimentary MP:0005381 9.87 ALX3 CDK4 MDM2 MEN1 MNX1 NFIB
3 homeostasis/metabolism MP:0005376 9.81 ALX3 CDK4 DES LPP MDM2 MEN1
4 endocrine/exocrine gland MP:0005379 9.8 ALX3 CDK4 MDM2 MEN1 MNX1 NFIB
5 mortality/aging MP:0010768 9.61 NFIB PTEN ALX3 CDK4 DES LPP
6 muscle MP:0005369 9.1 DES MDM2 MEN1 MNX1 PTEN CDK4

Drugs & Therapeutics for Lipomatosis, Multiple

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

(show all 34)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cortisone acetate Approved, Investigational Phase 1, Phase 2 1950-04-4, 50-04-4 5745
2
Isoproterenol Approved, Investigational Phase 1, Phase 2 7683-59-2 3779
3
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
4
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755
5
deoxycholic acid Approved Phase 2,Phase 1 83-44-3 222528
6 Adrenergic Agents Phase 1, Phase 2
7 Adrenergic Agonists Phase 1, Phase 2
8 Adrenergic beta-Agonists Phase 1, Phase 2
9 Anti-Asthmatic Agents Phase 1, Phase 2
10 Antiemetics Phase 1, Phase 2
11 Anti-Inflammatory Agents Phase 1, Phase 2
12 Antineoplastic Agents, Hormonal Phase 1, Phase 2
13 Autonomic Agents Phase 1, Phase 2
14 Bronchodilator Agents Phase 1, Phase 2
15
Cortisone Phase 1, Phase 2 53-06-5 222786
16 Gastrointestinal Agents Phase 1, Phase 2,Phase 2
17 glucocorticoids Phase 1, Phase 2
18 Hormone Antagonists Phase 1, Phase 2
19 Hormones Phase 1, Phase 2
20 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
21 Methylprednisolone acetate Phase 1, Phase 2
22 Methylprednisolone Hemisuccinate Phase 1, Phase 2
23 Neuroprotective Agents Phase 1, Phase 2
24 Neurotransmitter Agents Phase 1, Phase 2
25 Peripheral Nervous System Agents Phase 1, Phase 2
26 Pharmaceutical Solutions Phase 1, Phase 2,Not Applicable
27 Prednisolone acetate Phase 1, Phase 2
28 Prednisolone hemisuccinate Phase 1, Phase 2
29 Prednisolone phosphate Phase 1, Phase 2
30 Protective Agents Phase 1, Phase 2
31 Respiratory System Agents Phase 1, Phase 2
32 Cholagogues and Choleretics Phase 2,Phase 1
33 Endothelial Growth Factors
34 Mitogens

Interventional clinical trials:

(show all 15)
# Name Status NCT ID Phase Drugs
1 A Dose Escalation Study Using Collagenase Clostridium Histolyticum in the Treatment of Lipoma Completed NCT01613313 Phase 2 Collagenase Clostridium Histolyticum
2 Double Blind Study to Evaluate the Efficacy of Collagenase Histolyticum in the Treatment of Lipoma Completed NCT02249052 Phase 2 AA4500;placebo
3 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
4 Phase 2 Study for the Treatment of Superficial Lipomas Completed NCT00608842 Phase 2 Deoxycholic Acid Injection;Placebo
5 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
6 Deoxycholic Acid Injection for the Treatment of Superficial Lipomas Completed NCT00422188 Phase 1 Deoxycholic Acid Injection;Placebo
7 Survey of Optical Values of the Breast Using Radiation-Free Pressure-Free Optical Scanning Unknown status NCT00671385
8 Ultra-sounded Guided Regional Blockade for Lipoma Excision Completed NCT02753361 Not Applicable
9 Pilot Study of Infrared Imaging of Cutaneous Melanoma Completed NCT00937690
10 Feasibility and Yield of a New 20 G ProCore Needle With Coiled Sheath in the Gastrointestinal Subepithelial Tumors Completed NCT02884154 Not Applicable
11 Developing a Biomarker for Monitoring Clinical Outcomes in Children With Spinal Lipoma. Recruiting NCT02722681
12 Periampullary Lesions Via ERCP in Assuit University Hospital Recruiting NCT03185390 Not Applicable
13 Insight Into Subcutaneous Adipose Tissue Disorders Recruiting NCT02838277
14 Evaluation of Virtual Touch Tissue Imaging Quantification (VTIQ - 2D-SWE) in the Assessment of BI-RADS® 3 and 4 Lesions Recruiting NCT02638935 Not Applicable
15 Identification of Biomarkers for Patients With Vascular Anomalies Recruiting NCT03001180

Search NIH Clinical Center for Lipomatosis, Multiple

Cochrane evidence based reviews: neoplasms, adipose tissue

Genetic Tests for Lipomatosis, Multiple

Genetic tests related to Lipomatosis, Multiple:

# Genetic test Affiliating Genes
1 Lipoma 29
2 Lipomatosis, Multiple 29

Anatomical Context for Lipomatosis, Multiple

MalaCards organs/tissues related to Lipomatosis, Multiple:

41
Bone, Endothelial, Skin, Kidney, Brain

Publications for Lipomatosis, Multiple

Articles related to Lipomatosis, Multiple:

(show all 16)
# Title Authors Year
1
Subcutaneous Nodules in a Kidney Transplant Recipient: Familial Multiple Lipomatosis. ( 27206607 )
2016
2
Gastroduodenal Lipomatosis in the Familial Multiple Lipomatosis. ( 27884011 )
2016
3
A rare combination between familial multiple lipomatosis and extragastrointestinal stromal tumor. ( 26263450 )
2015
4
Images in clinical medicine. Familial multiple lipomatosis. ( 25251618 )
2014
5
Brain lipoma, corpus callosum hypoplasia and polymicrogyria in familial multiple lipomatosis. ( 23116686 )
2013
6
Insulin sensitivity in Familial Multiple Lipomatosis. ( 23893194 )
2013
7
Cytophagic histiocytic panniculitis with haemophagocytosis in a patient with familial multiple lipomatosis and review of the literature. ( 21732050 )
2012
8
Familial multiple lipomatosis with clear autosomal dominant inheritance and onset in early adolescence. ( 22707495 )
2011
9
Familial multiple lipomatosis: a case report. ( 20306922 )
2010
10
Encephalocraniocutaneous lipomatosis (ECCL) in a patient with history of familial multiple lipomatosis (FML). ( 19215040 )
2009
11
Familial multiple lipomatosis: report of a new family. ( 17674589 )
2007
12
Lipolysis of lipomas in patients with familial multiple lipomatosis: an ultrasonography-controlled trial. ( 17234112 )
2006
13
Familial multiple lipomatosis. ( 14594582 )
2003
14
Familial multiple lipomatosis. ( 12516905 )
2002
15
Minimally invasive approach to familial multiple lipomatosis. ( 11007403 )
2000
16
Familial multiple lipomatosis. Report of a case and a review of the literature. ( 3745530 )
1986

Variations for Lipomatosis, Multiple

Copy number variations for Lipomatosis, Multiple from CNVD:

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

Expression for Lipomatosis, Multiple

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

Pathways for Lipomatosis, Multiple

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.88 CDK4 MDM2 PTEN
2 11.86 FUS HMGA1 HMGA2 MEN1
3 11.78 CDK4 MDM2 PTEN
4 11.73 CDK4 MDM2 PTEN
5 11.54 CDK4 MDM2 PTEN
6 11.53 FUS HMGA2 MDM2 MEN1
7 11.46 HMGA1 MDM2 PTEN
8 10.96 CDK4 MDM2
9 10.46 CDK4 MDM2 PTEN

GO Terms for Lipomatosis, Multiple

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

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.4 ALX3 CDK4 DES FUS HMGA1 HMGA2
2 chromatin GO:0000785 9.33 CDK4 HMGA2 MEN1
3 senescence-associated heterochromatin focus GO:0035985 8.96 HMGA1 HMGA2

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

# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.98 ALX3 FUS HMGA1 HMGA2 MEN1 MNX1
2 negative regulation of transcription, DNA-templated GO:0045892 9.76 HMGA1 HMGA2 MDM2 MEN1
3 negative regulation of cell proliferation GO:0008285 9.67 HMGA1 MEN1 NFIB PTEN
4 negative regulation of cell cycle arrest GO:0071157 9.4 CDK4 MDM2
5 cellular response to peptide hormone stimulus GO:0071375 9.32 MDM2 MEN1
6 positive regulation of cellular senescence GO:2000774 9.26 HMGA1 HMGA2
7 negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle GO:0031658 9.16 CDK4 PTEN
8 senescence-associated heterochromatin focus assembly GO:0035986 8.96 HMGA1 HMGA2
9 oncogene-induced cell senescence GO:0090402 8.62 HMGA1 HMGA2

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.91 ALX3 FUS HMGA1 HMGA2 MEN1 MNX1
2 enzyme binding GO:0019899 9.56 HMGA1 HMGA2 MDM2 PTEN
3 ionotropic glutamate receptor binding GO:0035255 9.4 FUS PTEN
4 retinoid X receptor binding GO:0046965 9.32 FUS HMGA1
5 DNA-(apurinic or apyrimidinic site) endonuclease activity GO:0003906 9.16 HMGA1 HMGA2
6 peroxisome proliferator activated receptor binding GO:0042975 8.96 HMGA1 MDM2
7 AT DNA binding GO:0003680 8.62 HMGA1 HMGA2

Sources for Lipomatosis, Multiple

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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