MCID: DFF009
MIFTS: 20

Diffuse Lipomatosis

Categories: Skin diseases

Aliases & Classifications for Diffuse Lipomatosis

MalaCards integrated aliases for Diffuse Lipomatosis:

Name: Diffuse Lipomatosis 12 15 17 74

Classifications:



External Ids:

Disease Ontology 12 DOID:3923
NCIt 51 C6504
UMLS 74 C1333298

Summaries for Diffuse Lipomatosis

MalaCards based summary : Diffuse Lipomatosis is related to lipomatosis and tuberous sclerosis. An important gene associated with Diffuse Lipomatosis is SDHB (Succinate Dehydrogenase Complex Iron Sulfur Subunit B), and among its related pathways/superpathways is Chromatin Regulation / Acetylation. Affiliated tissues include thyroid, skin and colon, and related phenotypes are Increased HPV18 LCR reporter activity and Increased HPV18 LCR reporter activity

Related Diseases for Diffuse Lipomatosis

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

(show all 13)
# Related Disease Score Top Affiliating Genes
1 lipomatosis 30.5 HMGA2 SDHB
2 tuberous sclerosis 10.0
3 facial hemiatrophy 9.8 HMGA2 KANTR
4 lipomatosis, multiple 9.8
5 tuberous sclerosis 1 9.8
6 pleomorphic lipoma 9.8
7 goiter 9.8
8 poliomyelitis 9.8
9 hyperthyroidism 9.8
10 hemangioendothelioma 9.8
11 chondroma 9.8 HMGA2 SDHB
12 functional colonic disease 9.6 BRD4 KANTR
13 colonic pseudo-obstruction 9.5 BRD4 KANTR

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:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased HPV18 LCR reporter activity GR00197-A-1 9.26 BRD4 HMGA2
2 Increased HPV18 LCR reporter activity GR00197-A-3 9.26 BRD4
3 Increased HPV18 LCR reporter activity GR00197-A-4 9.26 BRD4
4 Increased Nanog expression GR00371-A-2 8.92 BRD4
5 Increased Nanog expression GR00371-A-4 8.92 BRD4
6 Increased Nanog expression GR00371-A-5 8.92 BRD4 HMGA2

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:

42
Thyroid, Skin, Colon

Publications for Diffuse Lipomatosis

Articles related to Diffuse Lipomatosis:

(show all 23)
# Title Authors Year
1
Tuberous Sclerosis Complex and Diffuse Lipomatosis: Case Report of a Rare Association. ( 29441296 )
2018
2
An Enlarged Goiter Presenting with a Rare Diffuse Lipomatosis of the Thyroid Gland. ( 29987269 )
2018
3
CT and MR imaging features of diffuse lipomatosis of the abdomen. ( 27138071 )
2016
4
Diffuse lipomatosis of the chest wall: report of a neonatal case. ( 25555958 )
2015
5
Diffuse lipomatosis of the thyroid gland with papillary microcarcinoma: Report of a rare entity. ( 26275261 )
2015
6
Diffuse lipomatosis of the thyroid with amyloid deposition. ( 23339824 )
2013
7
Diffuse lipomatosis of the thyroid gland. ( 23945482 )
2013
8
First description of inhibition of let-7 microRNA expression and HMGA2 overexpression in a case of deep-seated diffuse lipomatosis. ( 22642449 )
2012
9
Laryngeal lipoma associated with diffuse lipomatosis: case report and literature review. ( 20155698 )
2010
10
Diffuse lipomatosis of thyroid with hyperthyroidism. ( 20393249 )
2010
11
Atypical diffuse lipomatosis with multifocal abdominal involvement: a case report. ( 20541989 )
2010
12
Diffuse lipomatosis of the thyroid gland: a pathologic curiosity. ( 19332917 )
2009
13
Diffuse lipomatosis of thyroid gland. ( 18178906 )
2008
14
Complicated diffuse lipomatosis mimicking ascites. ( 18358964 )
2008
15
Recurrent diffuse lipomatosis of the neck--a case report. ( 15471125 )
2004
16
Diffuse lipomatosis of thyroid gland. ( 10214903 )
1999
17
Diffuse lipomatosis: imaging features. ( 9526805 )
1997
18
Diffuse lipomatosis involving the thoracic and abdominal wall: CT features. ( 1825832 )
1991
19
Diffuse lipomatosis and tuberous sclerosis. ( 3777976 )
1986
20
CT and histological findings of diffuse lipomatosis with a hemangioendothelioma: a case report. ( 3832955 )
1985
21
Diffuse lipomatosis in the leg after poliomyelitis. ( 1155102 )
1975
22
Diffuse lipomatosis of a lower extremity; report of a case. ( 14351883 )
1954
23
Congenital diffuse lipomatosis. ( 14790525 )
1950

Variations for Diffuse Lipomatosis

Expression for Diffuse Lipomatosis

Search GEO for disease gene expression data for Diffuse Lipomatosis.

Pathways for Diffuse Lipomatosis

Pathways related to Diffuse Lipomatosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.03 BRD4 HMGA2

GO Terms for Diffuse Lipomatosis

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

# Name GO ID Score Top Affiliating Genes
1 chromatin organization GO:0006325 8.62 BRD4 HMGA2

Sources for Diffuse Lipomatosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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