MCID: PSD016
MIFTS: 40

Pseudosarcomatous Fibromatosis

Categories: Rare diseases, Skin 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
SNOMED-CT 68 35548007 47284001
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 Cytoskeletal Signaling and Primary Focal Segmental Glomerulosclerosis FSGS. Affiliated tissues include thyroid, skin and breast.

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 138)
# Related Disease Score Top Affiliating Genes
1 fibromatosis 30.9 ACTC1 CTNNB1 DES VIM
2 fasciitis 30.3 ACTC1 DES MYH9 PPP6R3 USP6 VIM
3 hemangiopericytoma, malignant 29.9 ACTC1 DES VIM
4 intravascular fasciitis 29.8 CALD1 CD34
5 dermatofibrosarcoma protuberans 29.6 ACTC1 CD34 DES VIM
6 cranial pseudosarcomatous fasciitis 11.3
7 desmoid tumor 11.3
8 thyroid cancer, nonmedullary, 1 10.3
9 sarcoma 10.3
10 ovarian fibrothecoma 10.2 ACTC1 DES
11 adenofibroma 10.2 ACTC1 VIM
12 osteoblastoma 10.2 CTNNB1 USP6
13 fibroblastic rheumatism 10.2 ACTC1 DES
14 lymphangiectasis 10.2 ACTC1 VIM
15 epulis 10.2 DES VIM
16 botryoid rhabdomyosarcoma 10.2 ACTC1 DES
17 lymphangioma 10.2 ACTC1 VIM
18 glomangioma 10.2 ACTC1 DES
19 infantile digital fibromatosis 10.2 DES VIM
20 intravascular papillary endothelial hyperplasia 10.2 ACTC1 VIM
21 lymphangiomatosis 10.2 DES VIM
22 papillary carcinoma 10.2
23 primitive neuroectodermal tumor of the cervix uteri 10.2 DES VIM
24 non-langerhans-cell histiocytosis 10.2 ACTC1 DES
25 chondroma 10.2 ACTC1 CTNNB1
26 syringocystadenoma papilliferum 10.2 DES VIM
27 pulmonary vein stenosis 10.2 ACTC1 DES
28 biphasic synovial sarcoma 10.2 DES VIM
29 spiradenoma 10.2 ACTC1 VIM
30 angiocentric glioma 10.2 ACTC1 VIM
31 syringoma 10.2 DES VIM
32 cystic nephroma 10.2 DES VIM
33 juvenile xanthogranuloma 10.2 DES VIM
34 pleomorphic liposarcoma 10.2 DES VIM
35 desmoplastic small round cell tumor 10.2 DES VIM
36 mesenchymal chondrosarcoma 10.2 DES VIM
37 dedifferentiated liposarcoma 10.2 ACTC1 DES
38 psammomatous meningioma 10.2 CD34 CTNNB1
39 extraskeletal ewing sarcoma 10.2 DES VIM
40 sternum cancer 10.1 CD34 VIM
41 polymorphous low-grade adenocarcinoma 10.1 ACTC1 CTNNB1 VIM
42 angiolipoma 10.1 ACTC1 DES VIM
43 granular cell tumor 10.1 DES VIM
44 cutaneous leiomyosarcoma 10.1 ACTC1 DES VIM
45 spindle cell lipoma 10.1 ACTC1 DES VIM
46 parachordoma 10.1 ACTC1 DES VIM
47 breast cancer 10.1
48 myositis 10.1
49 soft tissue sarcoma 10.1
50 ossifying fibromyxoid tumor 10.1 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

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, Breast, Bone, Prostate, Liver, Smooth Muscle

Publications for Pseudosarcomatous Fibromatosis

Articles related to Pseudosarcomatous Fibromatosis:

(show top 50) (show all 386)
# 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
Nodular fasciitis of the temporomandibular joint: a case report. ( 29198485 )
2018
5
Nodular fasciitis mimicking a soft tissue sarcoma - A case report. ( 29471212 )
2018
6
Pseudosarcomatous myofibroblastic proliferations of the genitourinary tract are genetically different from nodular fasciitis and lack USP6, ROS1 and ETV6 gene rearrangements. ( 29617048 )
2018
7
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
8
Nodular fasciitis involving the palm. ( 29658336 )
2018
9
Intraspinal intradural nodular fasciitis mimicking glioblastoma metastasis: a case report. ( 29663743 )
2018
10
Imaging findings of radiologically misdiagnosed nodular fasciitis. ( 30060672 )
2018
11
Nodular fasciitis of the tongue: A case report in an infant. ( 30174019 )
2018
12
Nodular fasciitis, a forgotten entity. ( 30191556 )
2018
13
Nodular fasciitis of the parotid gland: A challenging diagnosis on FNA. ( 30311731 )
2018
14
Papillary thyroid carcinoma with nodular fasciitis-like stroma: A rare variant with distinctive morphology. ( 28937378 )
2017
15
Nodular Fasciitis of the Neck Causing Emergency: A Case Report. ( 28042407 )
2017
16
Nodular Fasciitis: Sonographic-Pathologic Correlation. ( 28065541 )
2017
17
USP6 activation in nodular fasciitis by promoter-swapping gene fusions. ( 28752842 )
2017
18
Nodular fasciitis of soft tissue over the mandible. ( 28993350 )
2017
19
Nodular fasciitis of the breast in an elderly woman. ( 29484039 )
2017
20
Nodular fasciitis of the breast clinically resembling breast cancer in an elderly woman: a case report. ( 28253912 )
2017
21
Ultrasonography findings of intradermal nodular fasciitis: a rare case report and review of the literature. ( 28300319 )
2017
22
Nodular Fasciitis of the Posterior Chest Wall With Bone Invasion Mimicking a Malignant Neoplasm. ( 28431711 )
2017
23
Nodular fasciitis causing progressive limitation of knee flexion in a marathon runner: Imaging with ultrasound and magnetic resonance. ( 28433074 )
2017
24
Nodular Fasciitis in the Tongue-a Mimicker of Malignancy: Case Report and Review of Literature. ( 28546724 )
2017
25
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
26
Nodular Fasciitis of the Orbit: A Case Report Confirmed by Molecular Cytogenetic Analysis. ( 26882059 )
2017
27
Papillary thyroid carcinoma with nodular fasciitis-like stroma and I^-catenin mutations should be renamed papillary thyroid carcinoma with desmoid-type fibromatosis. ( 27713418 )
2016
28
Nodular fasciitis: A frequent diagnostic pitfall on fine-needle aspiration. ( 27525591 )
2016
29
Intraneural nodular fasciitis of the radial nerve with rapidly progressive motor symptoms. ( 27114852 )
2016
30
Nodular Fasciitis Complicating a Staged Surgical Excision of Dermatofibrosarcoma Protuberans. ( 28018683 )
2016
31
Nodular fasciitis: a rare orbital masquerade. ( 27093458 )
2016
32
Nodular Fasciitis of the Breast. ( 27127573 )
2016
33
USP6 gene rearrangement in nodular fasciitis and histological mimics. ( 27271298 )
2016
34
PPP6R3-USP6 Amplification: Novel Oncogenic Mechanism in Malignant Nodular Fasciitis. ( 27113271 )
2016
35
In-Transit Melanoma Metastasis Mimicking Nodular Fasciitis. ( 27885660 )
2016
36
Nodular fasciitis mimicking recurrent lymphoma on positron emission tomography-computed tomography. ( 27257463 )
2016
37
Nodular Fasciitis of External Auditory Canal. ( 27304679 )
2016
38
Nodular Fasciitis of the Orofacial Region: An Uncommon Differential. ( 27408463 )
2016
39
Epibulbar Nodular Fasciitis. ( 27462253 )
2016
40
Intraneural Nodular Fasciitis in a Child: A Case Report and Review of the Literature. ( 27469937 )
2016
41
68Ga-PSMA PET/MR Showing Intense PSMA Uptake in Nodular Fasciitis Mimicking Prostate Cancer Metastasis. ( 27488427 )
2016
42
Giant Intramuscular Nodular Fasciitis Masquerading as Soft Tissue Sarcoma with Neural Involvement - A Case Report. ( 27504350 )
2016
43
Cutaneous nodular fasciitis with genetic analysis: a case series. ( 27686647 )
2016
44
Breast Nodular Fasciitis: A Comprehensive Review. ( 27721715 )
2016
45
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
46
Fine-needle aspiration diagnosis of nodular fasciitis: A case report. ( 27756994 )
2016
47
Intramuscular nodular fasciitis of the erector spinae muscle mimicking soft tissue sarcoma. ( 26820071 )
2016
48
Two Case Reports of Nodular Fasciitis: A Newly Recognized Placental Lesion. ( 26882130 )
2016
49
Nodular Fasciitis of the Chest in a Young Woman. ( 26889452 )
2016
50
Nodular Fasciitis: Definitive Diagnosis by Fine Needle Aspiration. ( 26981858 )
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:

# Super pathways Score Top Affiliating Genes
1 11.59 ACTC1 CALD1 DES MYH9 SEC31A VIM
2 11.2 CTNNB1 MYH9 VIM
3 10.99 ACTC1 DES VIM
4 10.76 CTNNB1 VIM

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 CALD1 CD34 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
6 cytosol GO:0005829 10.02 ACTC1 CALD1 CTNNB1 DES MYH9 PPP6R3

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

# Name GO ID Score Top Affiliating Genes
1 cell-cell adhesion GO:0098609 9.54 CD34 CTNNB1 MYH9
2 positive regulation of muscle cell differentiation GO:0051149 9.43 CTNNB1 MYOG
3 actomyosin structure organization GO:0031032 9.4 ACTC1 MYH9
4 positive regulation of gene expression GO:0010628 9.35 ACTC1 CD34 CREB3L2 CTNNB1 VIM
5 actin filament-based movement GO:0030048 9.32 ACTC1 MYH9
6 intermediate filament organization GO:0045109 9.26 DES VIM
7 cell morphogenesis involved in differentiation GO:0000904 9.16 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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