MCID: PSD016
MIFTS: 41

Pseudosarcomatous Fibromatosis

Categories: Skin diseases, Rare diseases

Aliases & Classifications for Pseudosarcomatous Fibromatosis

MalaCards integrated aliases for Pseudosarcomatous Fibromatosis:

Name: Pseudosarcomatous Fibromatosis 12 59 15
Nodular Fasciitis 12 59 29 73
Pseudosarcomatous Fasciitis 12 59
Fasciitis - Nodular 12
Fasciitis Nodular 55

Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:7327
ICD10 33 M72.4
NCIt 50 C3827
Orphanet 59 ORPHA477742
UMLS 73 C0410005

Summaries for Pseudosarcomatous Fibromatosis

MalaCards based summary : Pseudosarcomatous Fibromatosis, also known as nodular fasciitis, is related to fibromatosis and fasciitis, and has symptoms including pain An important gene associated with Pseudosarcomatous Fibromatosis is USP6 (Ubiquitin Specific Peptidase 6), and among its related pathways/superpathways are Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases and Cytoskeletal Signaling. Affiliated tissues include thyroid, skin and bone, and related phenotypes are Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance and cardiovascular system

Wikipedia : 76 Nodular fasciitis, also known as nodular pseudosarcomatous fasciitis,pseudosarcomatous fasciitis, and... more...

Related Diseases for Pseudosarcomatous Fibromatosis

Diseases related to Pseudosarcomatous Fibromatosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 87)
# Related Disease Score Top Affiliating Genes
1 fibromatosis 30.7 ACTC1 CTNNB1 DES VIM
2 fasciitis 29.4 ACTC1 DES MYH9 PPP6R3 USP6 VIM
3 desmoid tumor 11.1
4 cranial pseudosarcomatous fasciitis 11.1
5 osteoblastoma 10.7 CTNNB1 USP6
6 ovarian fibrothecoma 10.7 ACTC1 DES
7 lymphangiectasis 10.7 ACTC1 VIM
8 fibroblastic rheumatism 10.7 ACTC1 DES
9 cutaneous leiomyosarcoma 10.7 ACTC1 DES
10 infantile digital fibromatosis 10.7 DES VIM
11 botryoid rhabdomyosarcoma 10.7 ACTC1 DES
12 intravascular papillary endothelial hyperplasia 10.7 ACTC1 VIM
13 lymphangiomatosis 10.7 DES VIM
14 primitive neuroectodermal tumor of the cervix uteri 10.6 DES VIM
15 pulmonary vein stenosis 10.6 ACTC1 DES
16 adenofibroma 10.6 ACTC1 VIM
17 epulis 10.6 DES VIM
18 chondroma 10.6 ACTC1 CTNNB1
19 cystic nephroma 10.6 ACTC1 DES
20 biphasic synovial sarcoma 10.6 DES VIM
21 syringoma 10.6 DES VIM
22 angiocentric glioma 10.5 ACTC1 VIM
23 dedifferentiated liposarcoma 10.5 ACTC1 DES
24 juvenile xanthogranuloma 10.5 DES VIM
25 desmoplastic small round cell tumor 10.5 DES VIM
26 ischemic fasciitis 10.5 ACTC1 DES USP6
27 non-langerhans-cell histiocytosis 10.4 ACTC1 DES
28 mesenchymal chondrosarcoma 10.4 DES VIM
29 extraskeletal ewing sarcoma 10.4 DES VIM
30 myxofibrosarcoma 10.4 CREB3L2 DES
31 angiolipoma 10.4 ACTC1 DES VIM
32 spindle cell lipoma 10.4 ACTC1 DES VIM
33 parachordoma 10.4 ACTC1 DES VIM
34 ossifying fibromyxoid tumor 10.4 ACTC1 DES VIM
35 epithelioid leiomyosarcoma 10.4 ACTC1 DES VIM
36 syringocystadenoma papilliferum 10.4 ACTC1 DES VIM
37 benign metastasizing leiomyoma 10.4 ACTC1 DES VIM
38 granular cell tumor 10.4 DES VIM
39 pleomorphic liposarcoma 10.4 ACTC1 DES VIM
40 perivascular epithelioid cell tumor 10.4 ACTC1 DES VIM
41 reticulum cell sarcoma 10.3 ACTC1 DES VIM
42 cutaneous fibrous histiocytoma 10.3 ACTC1 DES VIM
43 glomus tumor 10.3 ACTC1 DES VIM
44 rhabdoid cancer 10.3 ACTC1 DES VIM
45 smooth muscle tumor 10.3 ACTC1 DES VIM
46 hemangiopericytoma, malignant 10.3 ACTC1 DES VIM
47 infantile myofibromatosis 10.3 ACTC1 DES VIM
48 chondromyxoid fibroma 10.3 ACTC1 DES VIM
49 glomangioma 10.3 ACTC1 DES VIM
50 sarcoma, synovial 10.3 CTNNB1 DES VIM

Graphical network of the top 20 diseases related to Pseudosarcomatous Fibromatosis:



Diseases related to Pseudosarcomatous Fibromatosis

Symptoms & Phenotypes for Pseudosarcomatous Fibromatosis

UMLS symptoms related to Pseudosarcomatous Fibromatosis:


pain

GenomeRNAi Phenotypes related to Pseudosarcomatous Fibromatosis according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance GR00210-A 8.92 MYH9 NTRK3 VIM CTNNB1

MGI Mouse Phenotypes related to Pseudosarcomatous Fibromatosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.5 ACTC1 CTNNB1 DES MYH9 NTRK3 SNX27
2 mortality/aging MP:0010768 9.32 ALK CREB3L2 CTNNB1 DES MYH9 MYOG

Drugs & Therapeutics for Pseudosarcomatous Fibromatosis

Search Clinical Trials , NIH Clinical Center for Pseudosarcomatous Fibromatosis

Genetic Tests for Pseudosarcomatous Fibromatosis

Genetic tests related to Pseudosarcomatous Fibromatosis:

# Genetic test Affiliating Genes
1 Nodular Fasciitis 29

Anatomical Context for Pseudosarcomatous Fibromatosis

MalaCards organs/tissues related to Pseudosarcomatous Fibromatosis:

41
Thyroid, Skin, Bone, Tongue, Smooth Muscle, Breast, Lymph Node

Publications for Pseudosarcomatous Fibromatosis

Articles related to Pseudosarcomatous Fibromatosis:

(show top 50) (show all 107)
# Title Authors Year
1
Myositis ossificans - Another condition with USP6 rearrangement, providing evidence of a relationship with nodular fasciitis and aneurysmal bone cyst. ( 29661729 )
2018
2
Nodular fasciitis mimicking malignant soft tissue tumor in an infant, with 18F-FDG PET/CT findings: A case report. ( 29871013 )
2018
3
The Rare Benign Lesion That Mimics a Malignant Tumor in Breast Parenchyma: Nodular Fasciitis of the Breast. ( 29854526 )
2018
4
Papillary thyroid carcinoma with nodular fasciitis-like stroma: A rare variant with distinctive morphology. ( 28937378 )
2017
5
Nodular Fasciitis of the Neck Causing Emergency: A Case Report. ( 28042407 )
2017
6
Nodular Fasciitis: Sonographic-Pathologic Correlation. ( 28065541 )
2017
7
Papillary thyroid carcinoma with nodular fasciitis-like stroma and I^-catenin mutations should be renamed papillary thyroid carcinoma with desmoid-type fibromatosis. ( 27713418 )
2016
8
Nodular fasciitis: A frequent diagnostic pitfall on fine-needle aspiration. ( 27525591 )
2016
9
Intraneural nodular fasciitis of the radial nerve with rapidly progressive motor symptoms. ( 27114852 )
2016
10
Nodular Fasciitis Complicating a Staged Surgical Excision of Dermatofibrosarcoma Protuberans. ( 28018683 )
2016
11
Nodular fasciitis: a rare orbital masquerade. ( 27093458 )
2016
12
Nodular Fasciitis of the Breast. ( 27127573 )
2016
13
USP6 gene rearrangement in nodular fasciitis and histological mimics. ( 27271298 )
2016
14
PPP6R3-USP6 Amplification: Novel Oncogenic Mechanism in Malignant Nodular Fasciitis. ( 27113271 )
2016
15
In-Transit Melanoma Metastasis Mimicking Nodular Fasciitis. ( 27885660 )
2016
16
Nodular fasciitis: a retrospective study of 272 cases from China with clinicopathologic and radiologic correlation. ( 25890487 )
2015
17
Retroperitoneal nodular fasciitis: a benign etiology on the differential diagnosis of malignant gastric outlet obstruction. ( 25830048 )
2015
18
Intramuscular Nodular Fasciitis of the Pectoralis Major. ( 26530041 )
2015
19
Nodular fasciitis of the tongue. ( 25900798 )
2015
20
Nodular fasciitis of the lip mucosa: a rare but clinically important entity. ( 25623839 )
2015
21
Post-aural Nodular Fasciitis. ( 25830004 )
2015
22
Nodular Fasciitis of the Orbit. ( 25393905 )
2014
23
Nodular fasciitis on temple area resulting in surgical trauma. ( 25364967 )
2014
24
Submental nodular fasciitis: Report of an unusual case. ( 25397379 )
2014
25
Nodular fasciitis clinically presenting as a sarcoma. ( 25363486 )
2014
26
Nodular fasciitis in finger simulating soft tissue malignancy. ( 26229780 )
2014
27
Pediatric Nodular Fasciitis in the Head and Neck: Evaluation and Management. ( 25375993 )
2014
28
Nodular fasciitis of the parotid gland, masquerading as pleomorphic adenoma. ( 25366072 )
2014
29
USP6-induced neoplasms: the biologic spectrum of aneurysmal bone cyst and nodular fasciitis. ( 23769422 )
2014
30
Nodular fasciitis over the anterior wall of the maxillary sinus: a case report and review of the literature. ( 23217546 )
2013
31
Intra-articular nodular fasciitis of the knee in a 4-year-old girl: a case report and review of the literature. ( 23744021 )
2013
32
Imaging findings for malignancy-mimicking nodular fasciitis of the breast and a review of previous imaging studies. ( 24349717 )
2013
33
MRI characteristics of nodular fasciitis of the musculoskeletal system. ( 23624727 )
2013
34
Nodular fasciitis in the buccal region with rapid growth after incisional biopsy mimicking sarcoma. ( 24220483 )
2013
35
Nodular fasciitis of the hand: excision preserving 'vital' structures. ( 24080437 )
2013
36
Nodular fasciitis of the oral cavity with partial spontaneous regression (nodular fasciitis). ( 22886509 )
2013
37
Nodular fasciitis after parathyroidectomy. ( 24168768 )
2013
38
Nodular fasciitis: a possible side effect of etanercept? ( 24195093 )
2013
39
Multiple nodular fasciitis in the mandibular border area which is misdiagnosed as metastatic lymph node. ( 22074875 )
2013
40
Variable Ki67 proliferative index in 65 cases of nodular fasciitis, compared with fibrosarcoma and fibromatosis. ( 23531088 )
2013
41
Periorbital nodular fasciitis arising during pregnancy. ( 23571242 )
2013
42
Nodular fasciitis: an uncommon disease with common medical management challenges at a remote Naval Hospital. ( 24005559 )
2013
43
Nodular fasciitis on the zygomatic region: a rare presentation. ( 24346889 )
2013
44
Fine needle aspiration cytology of nodular fasciitis presenting as a mass in the male breast: report of an unusual case. ( 22230031 )
2013
45
Nodular fasciitis in the parotid gland: a case report and review of the literature. ( 23749727 )
2013
46
Detection of USP6 gene rearrangement in nodular fasciitis: an important diagnostic tool. ( 23748914 )
2013
47
Cervical nodular fasciitis in a 17-month-old child. ( 23814003 )
2013
48
Nodular fasciitis: a diagnostic challenge. ( 24152513 )
2013
49
A Case of Nodular Fasciitis Causing Compressive Optic Neuropathy. ( 23924989 )
2013
50
Retraction Note to: A case of nodular fasciitis in the upper eyelid (Jpn J Ophthalmol. 2009;53:546-8). ( 23864269 )
2013

Variations for Pseudosarcomatous Fibromatosis

Expression for Pseudosarcomatous Fibromatosis

Search GEO for disease gene expression data for Pseudosarcomatous Fibromatosis.

Pathways for Pseudosarcomatous Fibromatosis

GO Terms for Pseudosarcomatous Fibromatosis

Cellular components related to Pseudosarcomatous Fibromatosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.9 ACTC1 ALK CALD1 CTNNB1 DES MYH9
2 focal adhesion GO:0005925 9.56 ACTC1 CTNNB1 MYH9 VIM
3 immunological synapse GO:0001772 9.32 MYH9 SNX27
4 cytoskeleton GO:0005856 9.17 ACTC1 CALD1 CTNNB1 DES MYH9 SNX27
5 fascia adherens GO:0005916 8.96 CTNNB1 DES

Biological processes related to Pseudosarcomatous Fibromatosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.56 ACTC1 CTNNB1 NTRK3 VIM
2 positive regulation of MAPK cascade GO:0043410 9.54 ALK CTNNB1 NTRK3
3 actomyosin structure organization GO:0031032 9.43 ACTC1 MYH9
4 positive regulation of muscle cell differentiation GO:0051149 9.4 CTNNB1 MYOG
5 actin filament-based movement GO:0030048 9.32 ACTC1 MYH9
6 intermediate filament organization GO:0045109 9.16 DES VIM
7 cell morphogenesis involved in differentiation GO:0000904 8.96 CTNNB1 MYH9
8 muscle filament sliding GO:0030049 8.8 ACTC1 DES VIM

Molecular functions related to Pseudosarcomatous Fibromatosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 9.13 CALD1 MYH9 USP6
2 myosin binding GO:0017022 8.62 ACTC1 CALD1

Sources for Pseudosarcomatous Fibromatosis

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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