MCID: DFF009
MIFTS: 29

Diffuse Lipomatosis

Categories: Skin diseases

Aliases & Classifications for Diffuse Lipomatosis

MalaCards integrated aliases for Diffuse Lipomatosis:

Name: Diffuse Lipomatosis 12 15 17 71

Classifications:



External Ids:

Disease Ontology 12 DOID:3923
NCIt 49 C6504
UMLS 71 C1333298

Summaries for Diffuse Lipomatosis

MalaCards based summary : Diffuse Lipomatosis is related to pleomorphic lipoma and lipomatosis, multiple. An important gene associated with Diffuse Lipomatosis is TSC1 (TSC Complex Subunit 1), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Human cytomegalovirus infection. Affiliated tissues include thyroid, bone and skin, and related phenotypes are Decreased cella89culturea89derived Hepatitis C virus (HCVcc; Luca89Jc1) infection and Decreased Hepatitis C Virus pseudoparticles (HCVpp; H77; genotype 1a) infection

Related Diseases for Diffuse Lipomatosis

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

(show top 50) (show all 71)
# Related Disease Score Top Affiliating Genes
1 pleomorphic lipoma 30.1 MDM2 CDK4
2 lipomatosis, multiple 30.0 MDM2 CDK4
3 liposarcoma 29.9 MDM2 CDK4
4 lipomatosis 10.6
5 goiter 10.2
6 overgrowth syndrome 10.1
7 tuberous sclerosis 10.1
8 inflammatory liposarcoma 10.0 MDM2 CHKB
9 heart cancer 10.0 TSC1 MDM2
10 benign ependymoma 10.0 TSC1 MDM2
11 ring chromosome 7 10.0 MDM2 CDK4
12 ring chromosome 10.0 MDM2 CDK4
13 mediastinum liposarcoma 10.0 MDM2 CDK4
14 gastric liposarcoma 10.0 MDM2 CDK4
15 papillary carcinoma 10.0
16 undifferentiated embryonal sarcoma of the liver 10.0 MDM2 CDK4
17 embryonal sarcoma 10.0 MDM2 CDK4
18 spindle cell liposarcoma 10.0 MDM2 CDK4
19 pediatric liposarcoma 10.0 MDM2 CDK4
20 infiltrating lipoma 10.0 MDM2 CDK4
21 lipoblastoma 10.0 MDM2 CDK4
22 mediastinum sarcoma 10.0 MDM2 CDK4
23 liposarcoma of bone 10.0 MDM2 CDK4
24 inflammatory mfh 9.9 MDM2 CDK4
25 pancreas sarcoma 9.9 MDM2 CDK4
26 adult liposarcoma 9.9 MDM2 CDK4
27 juxtacortical osteosarcoma 9.9 MDM2 CDK4
28 paratesticular lipoma 9.9 MDM2 CDK4
29 lipoma of spermatic cord 9.9 MDM2 CDK4
30 peripheral osteosarcoma 9.9 MDM2 CDK4
31 extraosseous osteosarcoma 9.9 MDM2 CDK4
32 mixed liposarcoma 9.9 MDM2 CDK4
33 retroperitoneal sarcoma 9.9 MDM2 CDK4
34 infiltrating angiolipoma 9.9 MDM2 CDK4
35 parameningeal embryonal rhabdomyosarcoma 9.9 MDM2 CDK4
36 embryonal rhabdomyosarcoma 9.9 MDM2 CDK4
37 dedifferentiated liposarcoma 9.9 MDM2 CDK4
38 cellular myxoid liposarcoma 9.9 MDM2 CDK4
39 myxoid liposarcoma 9.9 MDM2 CDK4
40 ischemic fasciitis 9.9 MDM2 CDK4
41 familial retinoblastoma 9.9 MDM2 CDK4
42 pleomorphic liposarcoma 9.9 MDM2 CDK4
43 bone osteosarcoma 9.9 MDM2 CDK4
44 well-differentiated liposarcoma 9.9 MDM2 CDK4
45 malignant fibroxanthoma 9.9 MDM2 CDK4
46 histiocytoma 9.8 MDM2 CDK4
47 muscle cancer 9.8 MDM2 CDK4
48 tuberous sclerosis 1 9.8
49 paralytic poliomyelitis 9.8
50 hyperostosis 9.8

Graphical network of the top 20 diseases related to Diffuse Lipomatosis:



Diseases related to Diffuse Lipomatosis

Symptoms & Phenotypes for Diffuse Lipomatosis

GenomeRNAi Phenotypes related to Diffuse Lipomatosis according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased cella89culturea89derived Hepatitis C virus (HCVcc; Luca89Jc1) infection GR00234-A-2 8.96 CDK4 CHKB
2 Decreased Hepatitis C Virus pseudoparticles (HCVpp; H77; genotype 1a) infection GR00234-A-1 8.62 CDK4 CHKB

MGI Mouse Phenotypes related to Diffuse Lipomatosis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.77 CDK4 CHKB MDM2 MFN2 TSC1
2 muscle MP:0005369 9.65 CDK4 CHKB MDM2 MFN2 TSC1
3 embryo MP:0005380 9.62 CDK4 MDM2 MFN2 TSC1
4 nervous system MP:0003631 9.55 CDK4 CHKB MDM2 MFN2 TSC1
5 pigmentation MP:0001186 9.26 CDK4 MDM2 MFN2 TSC1
6 skeleton MP:0005390 9.02 CDK4 CHKB MDM2 MFN2 TSC1

Drugs & Therapeutics for Diffuse Lipomatosis

Search Clinical Trials , NIH Clinical Center for Diffuse Lipomatosis

Genetic Tests for Diffuse Lipomatosis

Anatomical Context for Diffuse Lipomatosis

MalaCards organs/tissues related to Diffuse Lipomatosis:

40
Thyroid, Bone, Skin, Small Intestine, Colon, Salivary Gland, Uterus

Publications for Diffuse Lipomatosis

Articles related to Diffuse Lipomatosis:

(show top 50) (show all 55)
# Title Authors PMID Year
1
Lipomatosis of spinal epidural space, peritoneum, and renal sinus: a rare complication of long-term steroid therapy in a child with nephrotic syndrome. 61
30941508 2019
2
Laparoscopic resection of large pelvic lipoma causing obstructive uropathy in a 66 year old female - A case report from Greece. 61
30317275 2018
3
An Enlarged Goiter Presenting with a Rare Diffuse Lipomatosis of the Thyroid Gland. 61
29987269 2018
4
Tuberous Sclerosis Complex and Diffuse Lipomatosis: Case Report of a Rare Association. 61
29441296 2018
5
[Nevus lipomatosus cutaneous superficialis. Report of four cases including an unusual presentation associated with massive lipomas and diffuse lipomatosis]. 61
29290322 2018
6
Multiple symmetric lipomatosis and gynecomastia: A case report and relative literature review. 61
28438575 2017
7
CT and MR imaging features of diffuse lipomatosis of the abdomen. 61
27138071 2016
8
Diffuse lipomatosis of the thyroid gland with papillary microcarcinoma: Report of a rare entity. 61
26275261 2015
9
Loss of mitochondrial SDHB expression: what is its role in diffuse thyroid lipomatosis? 61
25679879 2015
10
Diffuse lipomatosis of the chest wall: report of a neonatal case. 61
25555958 2015
11
[Diffuse lipomatosis in amyloidotic goiter]. 61
26707670 2015
12
Diffuse lipomatosis of the thyroid gland. 61
23945482 2013
13
Fat-containing salivary gland tumors: a review. 61
23821211 2013
14
Madelung's disease associated with polyneuropathy and symptomatic hypokalemia. 61
23623508 2013
15
Diffuse lipomatosis of the thyroid with amyloid deposition. 61
23339824 2013
16
First description of inhibition of let-7 microRNA expression and HMGA2 overexpression in a case of deep-seated diffuse lipomatosis. 61
22642449 2012
17
Atypical diffuse lipomatosis with multifocal abdominal involvement: a case report. 61
20541989 2010
18
Diffuse lipomatosis of thyroid with hyperthyroidism. 61
20393249 2010
19
Laryngeal lipoma associated with diffuse lipomatosis: case report and literature review. 61
20155698 2010
20
Thyrolipoma and thyrolipomatosis: 5 case reports and historical review of the literature. 61
19917474 2009
21
Madelung's disease as a rare cause of obstructive sleep apnea. 61
19918637 2009
22
Diffuse lipomatosis of the thyroid gland: a pathologic curiosity. 61
19332917 2009
23
Complicated diffuse lipomatosis mimicking ascites. 61
18358964 2008
24
Diffuse lipomatosis of thyroid gland. 61
18178906 2008
25
Lipomatous lesions of the parotid gland. 61
17052582 2006
26
Giant nevi: a review. 61
17119398 2006
27
Recurrent diffuse lipomatosis of the neck--a case report. 61
15471125 2004
28
Epidural, paraspinal, and subcutaneous lipomatosis. 61
12851798 2003
29
Diffuse lipomatosis of thyroid gland. 61
10214903 1999
30
[Dorsal transthoracic diffuse lipomatosis in a patient with familial tuberous sclerosis]. 61
9842463 1998
31
[Precordial discomfort and ECG changes of repolarization associated with hypomagnesemia in a young women following colectomy for diffuse colonic lipomatosis]. 61
9549292 1997
32
Diffuse lipomatosis: imaging features. 61
9526805 1997
33
Uterine leiomyoma with a focus of fatty and cartilaginous differentiation. 61
8389520 1993
34
[Proteus syndrome]. 61
8279789 1993
35
Diffuse lipomatosis involving the thoracic and abdominal wall: CT features. 61
1825832 1991
36
Thyroid neoplasms containing mature fat: a report of two cases and review of the literature. 61
2682616 1989
37
Multiple familial angiolipomatosis: treatment of liposuction. 61
3358622 1988
38
Diffuse lipomatosis and tuberous sclerosis. 61
3777976 1986
39
Bannayan syndrome--generalized lipomatosis associated with megalencephaly and macrodactyly. 61
3705960 1986
40
Adenolipoma of the thyroid gland. 61
3957249 1986
41
CT and histological findings of diffuse lipomatosis with a hemangioendothelioma: a case report. 61
3832955 1985
42
Lipomatous lesions of the thyroid gland: a review. 61
3842076 1985
43
Adenolipoma (thyrolipoma) of the thyroid gland report of two cases and review of literature. 61
6433552 1984
44
[Case of diffuse lipomatosis of the neck]. 61
7241980 1981
45
[Diffuse polypoid lipomatosis coli with hypertrophy of the appendices epiploicae in congenital lipomatosis (author's transl)]. 61
7439059 1980
46
Lipomatous lesions of the uterus. 61
150107 1978
47
Different clinical types of lipomatosis. Case report. 61
663569 1978
48
[Diffuse entero-mesenteric lipomatosis]. 61
854206 1977
49
Diffuse lipomatosis in the leg after poliomyelitis. 61
1155102 1975
50
[Diffuse lipomatosis of Launois and Bensaude (apropos of 5 personal case)]. 61
5157740 1971

Variations for Diffuse Lipomatosis

Expression for Diffuse Lipomatosis

Search GEO for disease gene expression data for Diffuse Lipomatosis.

Pathways for Diffuse Lipomatosis

GO Terms for Diffuse Lipomatosis

Cellular components related to Diffuse Lipomatosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex GO:0032991 8.8 TSC1 MDM2 CDK4

Biological processes related to Diffuse Lipomatosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to toxic substance GO:0009636 9.32 MDM2 CDK4
2 negative regulation of neuron projection development GO:0010977 9.26 TSC1 MDM2
3 positive regulation of vascular smooth muscle cell proliferation GO:1904707 9.16 MFN2 MDM2
4 positive regulation of cell cycle GO:0045787 8.96 MDM2 CDK4
5 negative regulation of cell cycle arrest GO:0071157 8.62 MDM2 CDK4

Molecular functions related to Diffuse Lipomatosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein N-terminus binding GO:0047485 8.62 TSC1 MDM2

Sources for Diffuse Lipomatosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
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19 FMA
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
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36 KEGG
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44 MESH via Orphanet
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48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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