MCID: PRN022
MIFTS: 36

Perineurioma

Categories: Cancer diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Perineurioma

MalaCards integrated aliases for Perineurioma:

Name: Perineurioma 12 20 58 54 15 70
Soft Tissue Perineurioma 12 70

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:4697
MeSH 44 D018317
NCIt 50 C4973 C6912
SNOMED-CT 67 128795001
ICD10 via Orphanet 33 C47.9
UMLS via Orphanet 71 C0751691
Orphanet 58 ORPHA85102
UMLS 70 C0751691 C1370657

Summaries for Perineurioma

MalaCards based summary : Perineurioma, also known as soft tissue perineurioma, is related to sclerosing perineurioma and intraneural perineurioma. An important gene associated with Perineurioma is SLC2A1 (Solute Carrier Family 2 Member 1), and among its related pathways/superpathways are Neuroscience and Adhesion. Affiliated tissues include colon, tongue and skin, and related phenotypes are Decreased cell migration and Decreased cell migration

Related Diseases for Perineurioma

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

(show top 50) (show all 329)
# Related Disease Score Top Affiliating Genes
1 sclerosing perineurioma 32.2 S100B MUC1
2 intraneural perineurioma 32.0 SLC2A1 S100B S100A1 MUC1 DCAF8
3 reticular perineurioma 31.9 S100B MUC1 KIT
4 localized hypertrophic neuropathy 30.9 S100B MUC1
5 rare tumor 30.9 KIT ACTC1
6 secretory meningioma 30.8 VIM MUC1
7 fibroma 30.2 VIM S100A1 NF1 ACTC1
8 myxoid chondrosarcoma 30.2 S100B MUC1
9 chondrosarcoma 30.0 VIM S100B S100A1 MUC1
10 neurofibroma 30.0 VIM S100B S100A1 NF1 MUC1 KIT
11 spindle cell sarcoma 30.0 VIM S100B MUC1 KIT ACTC1
12 malignant fibrous histiocytoma 30.0 VIM S100B MUC1 ACTC1
13 epithelioid neurofibroma 29.9 NF1 DSP
14 cellular schwannoma 29.9 S100A1 NF1
15 dermatofibrosarcoma protuberans 29.9 VIM S100B S100A1 KIT ACTC1
16 leiomyoma 29.9 VIM S100A1 KIT ACTC1
17 sarcoma, synovial 29.8 VIM S100B NF1 MUC1 KIT
18 granular cell tumor 29.8 VIM S100B S100A1 GFAP
19 plexiform neurofibroma 29.8 S100B NF1 KIT
20 plexiform schwannoma 29.7 NF1 KIT DSP
21 nephroma 29.7 VIM MUC1 KIT ACTC1
22 cutaneous fibrous histiocytoma 29.7 VIM S100B S100A1 ACTC1
23 fibrous histiocytoma 29.6 VIM S100B KIT ALK ACTC1
24 malignant peripheral nerve sheath tumor 29.5 VIM S100B S100A1 NF1 MUC1 KIT
25 sarcoma 29.5 VIM S100B MUC1 KIT ALK ACTC1
26 fibrosarcoma 29.4 VIM KIT ALK ACTC1
27 neuroma 29.4 S100B NF1 MUC1 GFAP
28 neurilemmoma 29.4 VIM S100B S100A1 NF1 MUC1 KIT
29 neurofibromatosis, type i 29.4 S100B NF1 NCAM1 KIT
30 obstructive hydrocephalus 29.3 NF1 GFAP
31 ganglioneuroma 29.3 S100B NCAM1 GFAP
32 benign ependymoma 29.3 NF1 GFAP
33 constipation 29.2 VIM S100B KIT
34 wilms tumor 1 29.2 VIM SLC2A1 NCAM1 MUC1 ACTC1
35 gastrointestinal stromal tumor 29.2 VIM S100B S100A1 NF1 NCAM1 KIT
36 cellular ependymoma 28.9 VIM S100B NCAM1 MUC1 GFAP
37 leiomyosarcoma 28.9 VIM S100B S100A1 NF1 MUC1 KIT
38 meningioma, familial 27.9 VIM SLC2A1 S100B S100A1 NF1 NCAM1
39 extraneural perineurioma 11.3
40 malignant peripheral nerve sheath tumor with perineurial differentiation 11.1
41 neurofibromatosis 10.4
42 benign peripheral nerve sheath tumor 10.4
43 aggressive digital papillary adenocarcinoma 10.4 S100B MUC1
44 axillary lipoma 10.4 MUC1 KIT
45 meningeal melanocytoma 10.4 S100B MUC1
46 cerebral primitive neuroectodermal tumor 10.4 S100B MUC1
47 non-functioning pituitary adenoma 10.4 S100B MUC1
48 hydromyelia 10.4 VIM S100B
49 nodular hidradenoma 10.4 VIM MUC1
50 bednar tumor 10.4 VIM S100B

Graphical network of the top 20 diseases related to Perineurioma:



Diseases related to Perineurioma

Symptoms & Phenotypes for Perineurioma

GenomeRNAi Phenotypes related to Perineurioma according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased cell migration GR00055-A-1 8.92 ALK VIM
2 Decreased cell migration GR00055-A-2 8.92 NCAM1
3 Decreased cell migration GR00055-A-3 8.92 NCAM1

MGI Mouse Phenotypes related to Perineurioma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.07 ACTC1 ALK DCAF8 GFAP KIT NF1
2 cellular MP:0005384 10.06 ACTC1 DSP GFAP KIT NCAM1 NF1
3 cardiovascular system MP:0005385 10.03 ACTC1 DCAF8 DSP GFAP KIT NF1
4 nervous system MP:0003631 9.91 ACTC1 ALK DSP GFAP KIT NCAM1
5 muscle MP:0005369 9.87 ACTC1 DSP GFAP KIT NF1 S100A1
6 normal MP:0002873 9.76 ACTC1 ALK GFAP KIT NF1 S100A1
7 respiratory system MP:0005388 9.43 ALK DCAF8 KIT NF1 S100A1 VIM
8 vision/eye MP:0005391 9.17 ALK DSP GFAP KIT NCAM1 NF1

Drugs & Therapeutics for Perineurioma

Search Clinical Trials , NIH Clinical Center for Perineurioma

Genetic Tests for Perineurioma

Anatomical Context for Perineurioma

MalaCards organs/tissues related to Perineurioma:

40
Colon, Tongue, Skin, Bone, Pancreas, Adrenal Gland

Publications for Perineurioma

Articles related to Perineurioma:

(show top 50) (show all 388)
# Title Authors PMID Year
1
Claudin-1 is expressed in perineurioma-like low-grade fibromyxoid sarcoma. 61 54
19540561 2009
2
Multiple cutaneous sclerosing perineuriomas: an extensive presentation with involvement of the bilateral upper extremities. 61 54
19187114 2009
3
Fibroblastic polyp of the colon and colonic perineurioma: 2 names for a single entity? 61 54
18520438 2008
4
The normal and neoplastic perineurium: a review. 61 54
18434767 2008
5
Granular perineurioma: the first report of a rare distinctive subtype of perineurioma. 61 54
18360122 2008
6
Perineurioma originating from the recurrent laryngeal nerve, and the phonochirurgical treatment of the developed vocal fold palsy. 54 61
17687560 2008
7
Reticular and plexiform perineurioma: clinicopathological and immunohistochemical analysis of two cases and review of perineurial neoplasms of skin and soft tissues. 54 61
16133356 2005
8
Intestinal perineuriomas: clinicopathologic definition of a new anatomic subset in a series of 10 cases. 61 54
15958849 2005
9
Intraneural perineurioma involving the ulnar nerve. 61 54
15086844 2004
10
Cutaneous sclerosing perineurioma of the digits: an uncommon soft-tissue neoplasm. Report of two cases with immunohistochemical analysis. 54 61
14507408 2003
11
[Cutaneous perineurioma. Clinical and histological findings and differential diagnosis]. 54 61
12739055 2003
12
Immunohistochemical demonstration of EMA/Glut1-positive perineurial cells and CD34-positive fibroblastic cells in peripheral nerve sheath tumors. 61 54
12692193 2003
13
Expression of claudin-1, a recently described tight junction-associated protein, distinguishes soft tissue perineurioma from potential mimics. 54 61
12459629 2002
14
Reticular perineurioma: a distinctive variant of soft tissue perineurioma. 54 61
11257623 2001
15
[Cutaneous neural neoplasms--an update]. 61 54
10320997 1999
16
[Perineurioma]. 61 54
9221216 1997
17
Plexiform soft tissue tumor composed predominantly of perineurial fibroblasts (perineurioma). 54 61
8266590 1993
18
The enigmatic perineurial cell and its participation in tumors and in tumorlike entities. 61 54
1755098 1991
19
Intrinsic peripheral nerve and root tumor and pseudotumoral lesions at a tertiary care pediatric hospital. 61
33404726 2021
20
Hybrid schwannoma-perineurioma frequently harbors VGLL3 rearrangement. 61
33649458 2021
21
[Intra-oral Perineurioma, a case report]. 61
33734219 2021
22
Intraneural perineurioma of the median nerve at the elbow: A clinical case. 61
33640519 2021
23
Sporadic Malignant Perineurioma: A Rare Diagnosis Among Malignant Peripheral Nerve Sheath Tumors. 61
33647483 2021
24
Cap-assisted Endoscopic Mucosal Resection of Rectal Perineurioma Mimicking a Neuroendocrine Tumor. 61
33632999 2021
25
Diagnostic Pathology of Tumors of Peripheral Nerve. 61
33588442 2021
26
Perineurioma versus meningioma. A multi-institutional immunohistochemical and ultrastructural studY. 61
33320025 2021
27
Orbital hybrid schwannoma/perineurioma: A case presentation. 61
33078884 2021
28
Hybrid Schwannoma/Perineurioma: Morphologic Variations and Genetic Profiles. 61
33337633 2020
29
From Dyspepsia to Diagnosis: A Rare Gastric Subepithelial Lesion Definitively Diagnosed via Endoscopic Submucosal Dissection and Immunohistochemistry. 61
33482969 2020
30
Perineurioma -a rare cause of proptosis. 61
31910678 2020
31
Intramucosal true perineurioma of the sigmoid: endoscopic and pathological features of an infrequent lesion. 61
32303079 2020
32
Peripheral Nerve Sheath Tumors of Head and Neck: Imaging-Based Review of World Health Organization Classification. 61
33196600 2020
33
A Rare Perineurioma/Granular Cell Tumor Hybrid Peripheral Nerve Sheath Tumor. 61
31977319 2020
34
Intraneural perineurioma of the mandible: case series of a rare entity. 61
32868253 2020
35
[Intraneural perineurioma of the radial nerve in the spiral canal as the cause of a 6-year progressive paresis of hand and finger extension]. 61
32910223 2020
36
Limb Undergrowth in Intraneural Perineuriomas: An Under-Recognized Association. 61
32522650 2020
37
Primary intra-osseous Hybrid Schwannoma-Perineurioma in the mandible. 61
32994880 2020
38
Recurrent Fusion of the GRB2 Associated Binding Protein 1 (GAB1) Gene With ABL Proto-oncogene 1 (ABL1) in Benign Pediatric Soft Tissue Tumors. 61
32859628 2020
39
Decision Making in Retroperitoneal Nerve Sheath and Nerve-Associated Tumors: A Modular Approach. 61
32109286 2020
40
Facial Nerve Intraneural Perineurioma Masquerading as a Schwannoma. 61
32857124 2020
41
Intraneural perineurioma with thenar atrophy presenting as congenital absence of thenar muscles. 61
32790117 2020
42
Association of intraneural perineurioma with neurofibromatosis type 2. 61
32529330 2020
43
Intraneural perineurioma in neurofibromatosis type 2 with molecular analysis. 61
32271143 2020
44
Supraclavicular Solitary Hybrid Schwannoma/Neurofibroma: A Case Report. 61
32665878 2020
45
Onychomatricoma Presenting as a Dystrophic Right Great Toenail: Case Report and Review. 61
32499986 2020
46
The differential diagnosis between sclerotic fibroma and sclerosing perineurioma: An unresolved challenge. 61
31782178 2020
47
Endoscopic Mucosal Resection of a Gastric Perineurioma. 61
32309518 2020
48
Spindle cell proliferations of the sigmoid colon, rectum and anus: a review with emphasis on perineurioma. 61
31587346 2020
49
Extraneural perineurioma: CT and MRI imaging characteristics. 61
31267178 2020
50
[Informative value of ultrasound in the diagnosis of intraneural perineurioma]. 61
33095535 2020

Variations for Perineurioma

Expression for Perineurioma

Search GEO for disease gene expression data for Perineurioma.

Pathways for Perineurioma

Pathways related to Perineurioma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.99 S100B NF1 NCAM1 GFAP
2 11.59 NCAM1 MUC1 DSP
3
Show member pathways
11.47 VIM GFAP DSP
4 10.92 VIM SLC2A1 S100B NCAM1 GFAP
5 10.86 NCAM1 KIT ACTC1

GO Terms for Perineurioma

Cellular components related to Perineurioma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.36 VIM SLC2A1 S100B S100A1 NF1 MUC1

Biological processes related to Perineurioma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 astrocyte development GO:0014002 9.26 VIM GFAP
2 Bergmann glial cell differentiation GO:0060020 9.16 VIM GFAP
3 intermediate filament-based process GO:0045103 8.96 VIM GFAP
4 intermediate filament organization GO:0045109 8.8 VIM GFAP DSP

Molecular functions related to Perineurioma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.17 VIM SLC2A1 S100B S100A1 NCAM1 GFAP
2 S100 protein binding GO:0044548 9.16 S100B S100A1
3 structural constituent of cytoskeleton GO:0005200 9.13 VIM GFAP DSP

Sources for Perineurioma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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