MCID: PSD016
MIFTS: 45

Pseudosarcomatous Fibromatosis

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Pseudosarcomatous Fibromatosis

MalaCards integrated aliases for Pseudosarcomatous Fibromatosis:

Name: Pseudosarcomatous Fibromatosis 12 60 15
Nodular Fasciitis 12 60 30 74
Pseudosarcomatous Fasciitis 12 60
Fasciitis - Nodular 12
Fasciitis Nodular 56

Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:7327
NCIt 51 C3827
SNOMED-CT 69 35548007 47284001
ICD10 34 M72.4
Orphanet 60 ORPHA477742
UMLS 74 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 ERK Signaling and Integrin Pathway. Affiliated tissues include thyroid, bone and skin, 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 muscle

Wikipedia : 77 Nodular fasciitis, is a benignsoft tissue lesion most commonly found in the superficial fascia. The... 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 139)
# Related Disease Score Top Affiliating Genes
1 fibromatosis 31.0 ACTC1 CTNNB1 DES VIM
2 fasciitis 30.9 ACTC1 DES MYH9 USP6
3 cutaneous fibrous histiocytoma 30.1 ACTC1 DES VIM
4 spindle cell sarcoma 30.1 ACTC1 DES VIM
5 hemangiopericytoma, malignant 30.1 ACTC1 DES VIM
6 intravascular fasciitis 29.7 CALD1 CD34
7 dermatofibrosarcoma protuberans 29.7 ACTC1 CD34 DES VIM
8 desmoid tumor 11.3
9 cranial pseudosarcomatous fasciitis 11.3
10 adenofibroma 10.4 ACTC1 VIM
11 lymphangiectasis 10.4 ACTC1 VIM
12 ovarian fibrothecoma 10.4 ACTC1 DES
13 epulis 10.4 DES VIM
14 fibroblastic rheumatism 10.4 ACTC1 DES
15 cutaneous leiomyosarcoma 10.4 ACTC1 DES
16 thyroid cancer 10.4
17 infantile digital fibromatosis 10.4 DES VIM
18 botryoid rhabdomyosarcoma 10.4 ACTC1 DES
19 intravascular papillary endothelial hyperplasia 10.4 ACTC1 VIM
20 glomangioma 10.4 ACTC1 DES
21 osteoblastoma 10.4 CTNNB1 USP6
22 lymphangiomatosis 10.3 DES VIM
23 thyroid cancer, nonmedullary, 1 10.3
24 sarcoma 10.3
25 chronic intestinal pseudoobstruction 10.3 ACTG2 DES
26 non-langerhans-cell histiocytosis 10.3 ACTC1 DES
27 primitive neuroectodermal tumor of the cervix uteri 10.3 DES VIM
28 pulmonary vein stenosis 10.3 ACTC1 DES
29 biphasic synovial sarcoma 10.3 DES VIM
30 chondroma 10.3 ACTC1 CTNNB1
31 microcolon 10.3 ACTG2 DES
32 angiocentric glioma 10.3 ACTC1 VIM
33 syringoma 10.3 DES VIM
34 cystic nephroma 10.3 DES VIM
35 juvenile xanthogranuloma 10.3 DES VIM
36 pleomorphic liposarcoma 10.3 DES VIM
37 kidney hemangiopericytoma 10.3 ACTC1 CD34
38 desmoplastic small round cell tumor 10.2 DES VIM
39 angiolipoma 10.2 ACTC1 DES VIM
40 mesenchymal chondrosarcoma 10.2 DES VIM
41 spindle cell lipoma 10.2 ACTC1 DES VIM
42 parachordoma 10.2 ACTC1 DES VIM
43 syringocystadenoma papilliferum 10.2 ACTC1 DES VIM
44 ossifying fibromyxoid tumor 10.2 ACTC1 DES VIM
45 epithelioid leiomyosarcoma 10.2 ACTC1 DES VIM
46 papillary carcinoma 10.2
47 benign metastasizing leiomyoma 10.2 ACTC1 DES VIM
48 polymorphous low-grade adenocarcinoma 10.2 ACTC1 CTNNB1 VIM
49 dedifferentiated liposarcoma 10.2 ACTC1 DES
50 perivascular epithelioid cell tumor 10.2 ACTC1 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:

27
# 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 ACTG1 CTNNB1 MYH9 VIM

MGI Mouse Phenotypes related to Pseudosarcomatous Fibromatosis:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.23 ACTA1 ACTA2 ACTC1 ACTG1 CTNNB1 DES

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 30

Anatomical Context for Pseudosarcomatous Fibromatosis

MalaCards organs/tissues related to Pseudosarcomatous Fibromatosis:

42
Thyroid, Bone, Skin, Prostate, Breast, Tongue, Eye

Publications for Pseudosarcomatous Fibromatosis

Articles related to Pseudosarcomatous Fibromatosis:

(show top 50) (show all 397)
# Title Authors Year
1
Nodular Fasciitis Mimicking Pleomorphic Adenoma. ( 31064246 )
2019
2
Pediatric nodular fasciitis at the roof of the optic canal causing decreased vision: case report and review of the literature. ( 30706133 )
2019
3
Benign spindle cell lesions of the breast: a diagnostic approach to solitary fibrous tumour, nodular pseudoangiomatous stromal hyperplasia and nodular fasciitis. ( 30739079 )
2019
4
A RARE CASE OF GIANT INTRAPERITONEAL LIPOMA IN PATIENT WITH NODULAR FASCIITIS: IMAGE 18F-FDG PET / CT. ( 31019037 )
2019
5
Imaging findings of radiologically misdiagnosed nodular fasciitis. ( 30060672 )
2019
6
Nodular fasciitis, a forgotten entity. ( 30191556 )
2019
7
Intra-articular nodular fasciitis: a rare lesion case report and an updated review of the literature. ( 30611237 )
2019
8
Two case reports of intra-articular nodular fasciitis of the knee confirmed by MYH9-USP6 gene fusion expression. ( 30611632 )
2019
9
Nodular fasciitis: A rapidly enlarging destructive periorbital mass in an infant. ( 30619977 )
2019
10
Intra-articular nodular fasciitis of the proximal interphalangeal joint of a finger: A case report. ( 30661512 )
2019
11
Nodular fasciitis of the tongue: A case report in an infant. ( 30174019 )
2018
12
Nodular fasciitis of the parotid gland: A challenging diagnosis on FNA. ( 30311731 )
2018
13
Nodular fasciitis of the temporomandibular joint: a case report. ( 29198485 )
2018
14
Nodular fasciitis mimicking a soft tissue sarcoma - A case report. ( 29471212 )
2018
15
Pseudosarcomatous myofibroblastic proliferations of the genitourinary tract are genetically different from nodular fasciitis and lack USP6, ROS1 and ETV6 gene rearrangements. ( 29617048 )
2018
16
Misses and near misses in diagnosing nodular fasciitis and morphologically related reactive myofibroblastic proliferations: experience of a referral center with emphasis on frequency of USP6 gene rearrangements. ( 29623468 )
2018
17
Nodular fasciitis involving the palm. ( 29658336 )
2018
18
Myositis ossificans - Another condition with USP6 rearrangement, providing evidence of a relationship with nodular fasciitis and aneurysmal bone cyst. ( 29661729 )
2018
19
Intraspinal intradural nodular fasciitis mimicking glioblastoma metastasis: a case report. ( 29663743 )
2018
20
The Rare Benign Lesion That Mimics a Malignant Tumor in Breast Parenchyma: Nodular Fasciitis of the Breast. ( 29854526 )
2018
21
Nodular fasciitis mimicking malignant soft tissue tumor in an infant, with 18F-FDG PET/CT findings: A case report. ( 29871013 )
2018
22
Nodular fasciitis of the breast in an elderly woman. ( 29484039 )
2017
23
Nodular Fasciitis of the Posterior Chest Wall With Bone Invasion Mimicking a Malignant Neoplasm. ( 28431711 )
2017
24
Nodular fasciitis causing progressive limitation of knee flexion in a marathon runner: Imaging with ultrasound and magnetic resonance. ( 28433074 )
2017
25
Nodular Fasciitis in the Tongue-a Mimicker of Malignancy: Case Report and Review of Literature. ( 28546724 )
2017
26
Diagnostic clue of nodular fasciitis mimicking metastasis in papillary thyroid cancer, mismatching findings on 18F-FDG PET/CT and 123I whole body scan: A case report. ( 28693291 )
2017
27
USP6 activation in nodular fasciitis by promoter-swapping gene fusions. ( 28752842 )
2017
28
Papillary thyroid carcinoma with nodular fasciitis-like stroma: A rare variant with distinctive morphology. ( 28937378 )
2017
29
Nodular fasciitis of soft tissue over the mandible. ( 28993350 )
2017
30
Papillary thyroid carcinoma with nodular fasciitis-like stroma and β-catenin mutations should be renamed papillary thyroid carcinoma with desmoid-type fibromatosis. ( 27713418 )
2017
31
Nodular Fasciitis of the Neck Causing Emergency: A Case Report. ( 28042407 )
2017
32
Nodular Fasciitis: Sonographic-Pathologic Correlation. ( 28065541 )
2017
33
Nodular fasciitis of the breast clinically resembling breast cancer in an elderly woman: a case report. ( 28253912 )
2017
34
Ultrasonography findings of intradermal nodular fasciitis: a rare case report and review of the literature. ( 28300319 )
2017
35
Nodular Fasciitis of the Orbit: A Case Report Confirmed by Molecular Cytogenetic Analysis. ( 26882059 )
2017
36
Nodular fasciitis: A frequent diagnostic pitfall on fine-needle aspiration. ( 27525591 )
2017
37
Nodular Fasciitis Complicating a Staged Surgical Excision of Dermatofibrosarcoma Protuberans. ( 28018683 )
2016
38
Cutaneous nodular fasciitis with genetic analysis: a case series. ( 27686647 )
2016
39
Breast Nodular Fasciitis: A Comprehensive Review. ( 27721715 )
2016
40
Endometrial Endometrioid Carcinoma With Large Cystic Growth Configuration and Deceptive Pattern of Invasion Associated With Abundant Nodular Fasciitis-like Stroma: A Unique Hitherto Unreported Histology in Endometrioid Carcinoma. ( 27740962 )
2016
41
Fine-needle aspiration diagnosis of nodular fasciitis: A case report. ( 27756994 )
2016
42
In-Transit Melanoma Metastasis Mimicking Nodular Fasciitis. ( 27885660 )
2016
43
Intramuscular nodular fasciitis of the erector spinae muscle mimicking soft tissue sarcoma. ( 26820071 )
2016
44
Two Case Reports of Nodular Fasciitis: A Newly Recognized Placental Lesion. ( 26882130 )
2016
45
Nodular Fasciitis of the Chest in a Young Woman. ( 26889452 )
2016
46
Nodular Fasciitis: Definitive Diagnosis by Fine Needle Aspiration. ( 26981858 )
2016
47
Nodular fasciitis of the vulva: a challenging histopathologic diagnosis supported by the detection of USP6 gene rearrangement. ( 26991143 )
2016
48
Nodular fasciitis on the face. ( 27028624 )
2016
49
Description of a Rare Case of Nodular Fasciitis of the Apical Aspect of the Upper Buccal Sulcus. ( 27066277 )
2016
50
Nodular fasciitis: a rare orbital masquerade. ( 27093458 )
2016

Variations for Pseudosarcomatous Fibromatosis

Expression for Pseudosarcomatous Fibromatosis

Search GEO for disease gene expression data for Pseudosarcomatous Fibromatosis.

Pathways for Pseudosarcomatous Fibromatosis

Pathways related to Pseudosarcomatous Fibromatosis according to GeneCards Suite gene sharing:

(show all 43)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.75 ACTA1 ACTA2 ACTG1 ACTG2 CTNNB1 DES
2
Show member pathways
13.31 ACTA1 ACTA2 ACTG1 ACTG2 CALD1 CTNNB1
3
Show member pathways
13.21 ACTA1 ACTA2 ACTG1 ACTG2 CTNNB1 MYH9
4
Show member pathways
13.19 ACTA1 ACTA2 ACTG1 ACTG2 CTNNB1 VIM
5
Show member pathways
12.96 ACTA1 ACTA2 ACTG1 ACTG2 MYH9
6
Show member pathways
12.94 ACTA1 ACTA2 ACTG1 ACTG2 CTNNB1
7
Show member pathways
12.93 ACTA1 ACTA2 ACTC1 ACTG1 ACTG2 MYH9
8
Show member pathways
12.92 ACTA1 ACTA2 ACTG1 ACTG2 CTNNB1
9
Show member pathways
12.89 ACTA1 ACTA2 ACTG1 ACTG2 CTNNB1 MYOG
10
Show member pathways
12.86 ACTA1 ACTA2 ACTG1 ACTG2 CTNNB1 MYH9
11
Show member pathways
12.77 ACTA2 ACTG2 CALD1 DES VIM
12
Show member pathways
12.64 ACTA2 ACTG1 ACTG2 CALD1
13
Show member pathways
12.58 ACTA1 ACTA2 ACTG1 ACTG2
14
Show member pathways
12.49 ACTA1 ACTA2 ACTC1 ACTG1 CALD1
15
Show member pathways
12.47 ACTA1 ACTA2 ACTC1 ACTG1 ACTG2 CTNNB1
16
Show member pathways
12.46 ACTA1 ACTA2 ACTC1 ACTG1 ACTG2 CTNNB1
17
Show member pathways
12.37 ACTA1 ACTA2 ACTG1 ACTG2 MYH9
18
Show member pathways
12.34 ACTA1 ACTA2 ACTG1 ACTG2
19
Show member pathways
12.33 ACTA1 ACTA2 ACTG1 ACTG2
20
Show member pathways
12.33 ACTA1 ACTA2 ACTG1 ACTG2 CTNNB1
21
Show member pathways
12.31 ACTA1 ACTA2 ACTG1 ACTG2 CTNNB1 DES
22
Show member pathways
12.12 ACTA1 ACTA2 ACTG1 ACTG2 CALD1 CTNNB1
23
Show member pathways
12.11 ACTC1 ACTG1 DES
24 12.06 ACTA1 ACTA2 ACTG1 ACTG2 CTNNB1
25 12 ACTA1 ACTA2 ACTG1 ACTG2 CTNNB1
26 11.95 ACTA1 ACTA2 ACTG1 ACTG2 CTNNB1
27
Show member pathways
11.92 ACTA1 ACTA2 ACTG1 ACTG2 MYH9
28
Show member pathways
11.88 ACTG1 DES VIM
29 11.81 ACTA1 ACTA2 ACTC1 ACTG1 ACTG2 CALD1
30 11.71 ACTA1 ACTA2 ACTG1 ACTG2 CTNNB1
31 11.7 CTNNB1 MYH9 VIM
32 11.64 ACTA1 ACTA2 ACTG1 ACTG2 CTNNB1
33 11.62 ACTA1 ACTA2 ACTG1 ACTG2
34 11.52 ACTA1 ACTA2 ACTG1 ACTG2
35 11.49 ACTA1 ACTA2 ACTC1 ACTG1 DES VIM
36 11.35 ACTA2 ACTG2 CALD1
37 11.34 ACTA1 ACTA2 ACTG1 ACTG2
38 11.34 ACTA1 ACTA2 ACTC1 ACTG1 ACTG2 MYH9
39 11.3 ACTA1 ACTA2 ACTG1 ACTG2 CTNNB1
40 11.29 ACTG1 CTNNB1 VIM
41 11.14 ACTA1 ACTA2 ACTG1 ACTG2
42 11.03 ACTA1 ACTA2 ACTC1 ACTG1 ACTG2 CTNNB1
43 10.84 ACTA1 ACTA2 ACTG1 ACTG2

GO Terms for Pseudosarcomatous Fibromatosis

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 focal adhesion GO:0005925 9.85 ACTC1 ACTG1 CTNNB1 MYH9 VIM
2 blood microparticle GO:0072562 9.73 ACTA1 ACTC1 ACTG1 ACTG2
3 actin filament GO:0005884 9.69 ACTA1 ACTC1 ACTG1
4 cell periphery GO:0071944 9.67 ACTG2 CD34 CTNNB1
5 actin cytoskeleton GO:0015629 9.65 ACTA1 ACTA2 ACTG1 CALD1 MYH9
6 cell body GO:0044297 9.62 ACTA1 ACTA2 ACTC1 ACTG2
7 fascia adherens GO:0005916 9.52 CTNNB1 DES
8 filopodium GO:0030175 9.46 ACTA1 ACTA2 ACTC1 ACTG2
9 lamellipodium GO:0030027 9.35 ACTA1 ACTA2 ACTC1 ACTG2 CTNNB1
10 cytoskeleton GO:0005856 9.32 ACTA1 ACTA2 ACTC1 ACTG1 ACTG2 CALD1
11 cytosol GO:0005829 10.22 ACTA1 ACTA2 ACTC1 ACTG1 ACTG2 CALD1
12 cytoplasm GO:0005737 10.18 ACTA1 ACTA2 ACTC1 ACTG1 ACTG2 CALD1
13 extracellular exosome GO:0070062 10.06 ACTA1 ACTA2 ACTC1 ACTG1 ACTG2 CTNNB1

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cell-cell adhesion GO:0098609 9.63 CD34 CTNNB1 MYH9
2 muscle filament sliding GO:0030049 9.56 ACTA1 ACTC1 DES VIM
3 muscle contraction GO:0006936 9.55 ACTA1 ACTA2 ACTG2 CALD1 DES
4 positive regulation of muscle cell differentiation GO:0051149 9.51 CTNNB1 MYOG
5 positive regulation of gene expression GO:0010628 9.5 ACTA1 ACTA2 ACTC1 ACTG2 CD34 CTNNB1
6 actomyosin structure organization GO:0031032 9.49 ACTC1 MYH9
7 skeletal muscle fiber development GO:0048741 9.48 ACTA1 MYOG
8 actin filament-based movement GO:0030048 9.43 ACTC1 MYH9
9 intermediate filament organization GO:0045109 9.4 DES VIM
10 skeletal muscle thin filament assembly GO:0030240 9.37 ACTA1 ACTC1
11 cell morphogenesis involved in differentiation GO:0000904 9.32 CTNNB1 MYH9
12 mesenchyme migration GO:0090131 8.92 ACTA1 ACTA2 ACTC1 ACTG2

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

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.63 ACTA1 ACTA2 ACTC1 ACTG1 ACTG2 MYH9
2 myosin binding GO:0017022 9.13 ACTA1 ACTC1 CALD1
3 structural constituent of cytoskeleton GO:0005200 8.92 ACTA1 ACTG1 DES VIM

Sources for Pseudosarcomatous Fibromatosis

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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