MCID: PSD016
MIFTS: 37

Pseudosarcomatous Fibromatosis

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Pseudosarcomatous Fibromatosis

MalaCards integrated aliases for Pseudosarcomatous Fibromatosis:

Name: Pseudosarcomatous Fibromatosis 12 58 15 32
Nodular Fasciitis 12 58 29 71
Pseudosarcomatous Fasciitis 12 58
Fasciitis - Nodular 12
Fasciitis Nodular 54

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:7327
NCIt 49 C3827
SNOMED-CT 67 400138001 703616008
ICD10 32 M72.4
Orphanet 58 ORPHA477742
UMLS 71 C0410005

Summaries for Pseudosarcomatous Fibromatosis

MalaCards based summary : Pseudosarcomatous Fibromatosis, also known as nodular fasciitis, is related to desmoid tumor and fibromatosis, 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 breast, thyroid and bone, and related phenotypes are Decreased viability and Decreased viability

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 297)
# Related Disease Score Top Affiliating Genes
1 desmoid tumor 33.0 DES CTNNB1 CD34 ACTC1
2 fibromatosis 31.4 VIM DES CTNNB1 ACTC1
3 fasciitis 31.1 VIM USP6 MYH9 CD34 ACTC1
4 pleomorphic adenoma 31.0 VIM DES CTNNB1 ACTC1
5 villonodular synovitis 30.9 VIM CD68
6 pyogenic granuloma 30.7 CD34 ACTC1
7 rare tumor 30.7 DES ACTC1
8 pigmented villonodular synovitis 30.6 VIM SERPINA3 CD68
9 neurofibroma 30.6 VIM CD34 ACTC1
10 spindle cell carcinoma 30.6 VIM DES CD34 ACTC1
11 spindle cell sarcoma 30.5 VIM SERPINA3 MYOG DES CD34 ACTC1
12 pleomorphic lipoma 30.5 SERPINA3 CD68 CD34
13 fibrosarcoma 30.4 VIM DES COL1A1 ALK ACTC1
14 aneurysmal bone cysts 30.3 USP6 CDH11
15 extraskeletal ewing sarcoma 30.3 VIM DES
16 lipomatosis, multiple 30.3 SERPINA3 DES CD34 CALD1
17 malignant spindle cell melanoma 30.2 SERPINA3 CD68 CD34
18 sarcoma 30.2 VIM SERPINA3 MYOG DES CTNNB1 ALK
19 leiomyoma 30.2 VIM DES CD34 ACTC1
20 malignant peripheral nerve sheath tumor 30.2 VIM MYOG CD34 ACTC1
21 neurilemmoma 30.1 VIM SERPINA3 DES CD34 ACTC1
22 ewing sarcoma 30.0 VIM MYOG DES CD34 ALK
23 rhabdomyosarcoma 30.0 VIM MYOG DES CTNNB1 ALK ACTC1
24 leiomyosarcoma 30.0 VIM SERPINA3 MYOG DES ACTC1
25 infantile myofibromatosis 29.9 VIM DES CD34 CALD1 ACTC1
26 malignant fibrous histiocytoma 29.9 VIM SERPINA3 MYOG DES CD68 ACTC1
27 myofibroma 29.9 SERPINA3 MYOG DES CD34 CALD1
28 proliferative fasciitis 29.8 USP6 SERPINA3 NAB2 MYH9 CD68
29 dermatofibrosarcoma protuberans 29.8 VIM SERPINA3 DES COL1A1 CD34 ACTC1
30 intravascular fasciitis 29.7 USP6 MYH9 CTNNB1 CD68 CD34 CALD1
31 fibrous histiocytoma 29.7 VIM SERPINA3 MYOG DES CD68 CD34
32 congenital fibrosarcoma 29.7 VIM SERPINA3 MYOG DES ALK ACTC1
33 connective tissue benign neoplasm 29.6 USP6 SERPINA3 CTNNB1 CD68 CD34 CALD1
34 tenosynovial giant cell tumor 29.6 USP6 SERPINA3 CD68 CD34 AKTIP
35 fibroma 29.4 VIM USP6 SERPINA3 DES CTNNB1 CD68
36 cutaneous fibrous histiocytoma 29.4 VIM SERPINA3 DES COL1A1 CD68 CD34
37 mesenchymal cell neoplasm 29.3 SERPINA3 NAB2 MYOG FGF19 CD68 CD34
38 cranial pseudosarcomatous fasciitis 11.4
39 lymphangiectasis 10.6 VIM ACTC1
40 fibroblastic rheumatism 10.6 DES ACTC1
41 ovarian fibrothecoma 10.6 DES ACTC1
42 infantile digital fibromatosis 10.6 VIM DES
43 angiomyoma 10.6 CD34 CALD1
44 primitive neuroectodermal tumor of the cervix uteri 10.6 VIM DES
45 lymphangiomatosis 10.6 VIM DES
46 malignant giant cell tumor 10.5 CD68 ACTC1
47 pediatric liposarcoma 10.5 VIM CD34
48 adult cystic nephroma 10.5 DES ACTC1
49 myoblastoma 10.5 MYOG CD68
50 angiocentric glioma 10.5 VIM ACTC1

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 viability GR00221-A-1 9.58 ALK
2 Decreased viability GR00221-A-4 9.58 ALK
3 Decreased viability GR00240-S-1 9.58 FGF19
4 Decreased viability GR00249-S 9.58 ALK CALD1 SERPINA3 THRAP3 USP6 VIM
5 Decreased viability GR00381-A-1 9.58 USP6 VCPIP1
6 Decreased viability GR00386-A-1 9.58 CDH11 FGF19 MYOG NAB2 OTUD6B
7 Decreased viability GR00402-S-2 9.58 NAB2 VIM

MGI Mouse Phenotypes related to Pseudosarcomatous Fibromatosis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10 ACTC1 AKTIP CD34 COL1A1 CTNNB1 DES
2 homeostasis/metabolism MP:0005376 9.97 ACTC1 AKTIP ALK CD34 COL1A1 CTNNB1
3 integument MP:0010771 9.61 AKTIP ALK CD34 CDH11 COL1A1 CTNNB1
4 respiratory system MP:0005388 9.17 AKTIP ALK COL1A1 CTNNB1 MYOG NAB2

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:

40
Breast, Thyroid, Bone, Skin, Smooth Muscle, Tongue, Lymph Node

Publications for Pseudosarcomatous Fibromatosis

Articles related to Pseudosarcomatous Fibromatosis:

(show top 50) (show all 736)
# Title Authors PMID Year
1
Fibro-osseous pseudotumor of the digit: a clinicopathological study of 17 cases. 61 54
19678826 2010
2
A subset of cranial fasciitis is associated with dysregulation of the Wnt/beta-catenin pathway. 54 61
18587328 2008
3
Differential expression of smooth muscle myosin, smooth muscle actin, h-caldesmon, and calponin in the diagnosis of myofibroblastic and smooth muscle lesions of skin and soft tissue. 61 54
16625070 2006
4
Nuclear beta-catenin expression distinguishes deep fibromatosis from other benign and malignant fibroblastic and myofibroblastic lesions. 54 61
15832090 2005
5
Nodular fasciitis: diagnosis by fine needle aspiration biopsy. 54 61
15296335 2004
6
Vimentin, smooth muscle actin, desmin, S-100 protein, p53, and estrogen receptor expression in elastofibroma and nodular fasciitis. 61 54
12004356 2002
7
Are myogenin and myoD1 expression specific for rhabdomyosarcoma? A study of 150 cases, with emphasis on spindle cell mimics. 61 54
11688574 2001
8
Nodular fasciitis and solitary fibrous tumor of the oral region: tumors of fibroblast heterogeneity. 61 54
10225630 1999
9
Cytoskeletal characteristics of myofibroblasts in benign neoplastic and reactive fibroblastic lesions. 61 54
2107624 1990
10
Nodular Fasciitis Mimicking Pleomorphic Adenoma. 61
31064246 2020
11
[The 478 th case: multiple myalgia with intramuscular nodules]. 61
32486593 2020
12
Well-Differentiated/Dedifferentiated Liposarcoma Arising in the Upper Aerodigestive Tract: 8 Cases Mimicking Non-adipocytic Lesions. 61
32410132 2020
13
Nodular fasciitis of the breast. 61
32052513 2020
14
Recurrent and novel USP6 fusions in cranial fasciitis identified by targeted RNA sequencing. 61
31827231 2020
15
A Distinctive Genomic and Immunohistochemical Profile for NOTCH3 and PDGFRB in Myofibroma With Diagnostic and Therapeutic Implications. 61
31566039 2020
16
Papillary thyroid carcinoma with prominent myofibroblastic stromal component: clinicopathologic, immunohistochemical and next-generation sequencing study of seven cases. 61
32291398 2020
17
Surgical Treatment of Oral Cavity Nodular Fasciitis. 61
31609954 2020
18
A Novel COL1A1-CAMTA1 Rearrangement in Cranial Fasciitis. 61
32192385 2020
19
Novel CTNNB1-USP6 fusion in intravascular fasciitis of the large vein identified by next-generation sequencing. 61
32170450 2020
20
USP6 Gene Rearrangement by FISH Analysis in Cranial Fasciitis: A Report of Three Cases. 61
30758758 2020
21
Radiation-induced undifferentiated pleomorphic sarcoma of the breast. 61
32047082 2020
22
Intraarticular Nodular Fasciitis of the Knee With MHY9-USP6 Fusion: A Case Report. 61
32089028 2020
23
[Differential diagnosis of nodular fasciitis]. 61
32135557 2020
24
Low 68Ga-PSMA PET/CT Uptake in Chronic Intramuscular Nodular Fasciitis. 61
31246686 2020
25
Superficial Nodular Fasciitis With Atypical Presentations: Report of 3 Cases and Review of Recent Molecular Genetics. 61
31638603 2019
26
Case of mesenchymal tumor with the PPP6R3-USP6 fusion, possible nodular fasciitis with malignant transformation. 61
31538390 2019
27
Practical approach to diagnosis of bland-looking spindle cell lesions of the breast. 61
31965112 2019
28
Novel EIF5A-USP6 Gene Fusion in Nodular Fasciitis Associated With Unusual Pathologic Features: A Report of a Case and Review of the Literature. 61
31880592 2019
29
Is TLE1 Expression Limited to Synovial Sarcoma? Our Experience at Shifa International Hospital, Pakistan. 61
31893185 2019
30
Myofibromatosis. 61
31738635 2019
31
Nodular fasciitis of the parotid gland engulfing the facial nerve: a conservative approach. 61
31630128 2019
32
Cytological Diagnosis and Misdiagnosis of Nodular Fasciitis. 61
31741577 2019
33
The "String of Pearls" technique for increased surface area and lymphedematous fluid drainage in right gastroepiploic-vascularized lymph node transfer: A report of two cases. 61
31225685 2019
34
Pediatric nodular fasciitis at the roof of the optic canal causing decreased vision: case report and review of the literature. 61
30706133 2019
35
Clinical Utility of In Situ Hybridization Assays in Head and Neck Neoplasms. 61
30467669 2019
36
[Intramuscular type of nodular fasciitis: a report of 3 cases and review of literature]. 61
31792488 2019
37
Soft tissue aneurysmal bone cyst: six new cases with imaging details, molecular pathology, and review of the literature. 61
30603771 2019
38
Fibro-osseous pseudotumor of digits and myositis ossificans show consistent COL1A1-USP6 rearrangement: a clinicopathological and genetic study of 27 cases. 61
30946936 2019
39
A Rare Case of Giant Intraperitoneal Lipoma Found Incidentally on 18F-FDG PET/CT in a Patient with Nodular Fasciitis. 61
31019037 2019
40
Benign spindle cell lesions of the breast: a diagnostic approach to solitary fibrous tumour, nodular pseudoangiomatous stromal hyperplasia and nodular fasciitis. 61
30739079 2019
41
Single Port Endoscope-Assisted Excision of Forehead Lesions: An Innovative Way of Improving the Optical Cavity. 61
30807473 2019
42
A surgical approach for extensive orbital exenteration in dogs; a description of technique and its application in 4 cases. 61
30701695 2019
43
Pediatric Cranial Fasciitis: Discussion of Cases and Systematic Review of the Literature. 61
30743035 2019
44
Nuclear TFE3 expression is a diagnostic marker for Desmoid-type fibromatosis. 61
31043173 2019
45
Seek the Spindle Tumor in Submandibular Space. 61
31223599 2019
46
Imaging findings of radiologically misdiagnosed nodular fasciitis. 61
30060672 2019
47
Nodular fasciitis: A rapidly enlarging destructive periorbital mass in an infant. 61
30619977 2019
48
Focal Myositis of the Leg Presenting as Fever of Unknown Origin Detected by FDG PET/CT. 61
30562199 2019
49
Nodular fasciitis, a forgotten entity. 61
30191556 2019
50
Intra-articular nodular fasciitis of the proximal interphalangeal joint of a finger: A case report. 61
30661512 2019

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
Show member pathways
12.18 MYH9 CTNNB1 COL1A1 ACTC1
2 11.59 VIM MYH9 DES CDH11 CALD1 ACTC1
3 11.52 MYOG DES CD34
4 11.3 VIM MYH9 CTNNB1
5 11.19 VIM DES ACTC1
6 10.34 VIM FGF19 DES COL1A1 CDH11 ALK

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 extracellular exosome GO:0070062 9.28 VIM THRAP3 SERPINA3 MYH9 DES CTNNB1
2 fascia adherens GO:0005916 8.96 DES CTNNB1

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

# Name GO ID Score Top Affiliating Genes
1 ossification GO:0001503 9.43 MYOG COL1A1 CDH11
2 cell-cell adhesion GO:0098609 9.26 MYH9 CTNNB1 CDH11 CD34
3 cell morphogenesis involved in differentiation GO:0000904 9.16 MYH9 CTNNB1
4 muscle filament sliding GO:0030049 8.8 VIM DES ACTC1

Sources for Pseudosarcomatous Fibromatosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
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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