MCID: MLG077
MIFTS: 55

Malignant Peripheral Nerve Sheath Tumor

Categories: Rare diseases, Neuronal diseases, Cancer diseases

Aliases & Classifications for Malignant Peripheral Nerve Sheath Tumor

MalaCards integrated aliases for Malignant Peripheral Nerve Sheath Tumor:

Name: Malignant Peripheral Nerve Sheath Tumor 12 50 56 14 69
Malignant Neurilemmoma 50 56 52
Neurofibrosarcoma 50 56 69
Mpnst 50 56 52
Malignant Neurofibroma 50 56
Malignant Schwannoma 50 56
Neurogenic Sarcoma 50 56
Malignant Neoplasm of the Peripheral Nerve Sheath 12
Malignant Peripheral Nerve Sheath Tumor [dup] 12
Malignant Peripheral Nerve Sheath Tumors 52

Characteristics:

Orphanet epidemiological data:

56
malignant peripheral nerve sheath tumor
Inheritance: Not applicable; Prevalence: 1-9/100000 (Worldwide); Age of onset: Adolescent,Adult,Childhood,Elderly,Infancy; Age of death: adolescent,adult,early childhood,elderly,infantile,late childhood,young Adult;

Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:5940
MeSH 42 D009442
NCIt 47 C3798
Orphanet 56 ORPHA3148
UMLS via Orphanet 70 C0751690 C0206729
ICD10 via Orphanet 34 C47.9
UMLS 69 C0751690

Summaries for Malignant Peripheral Nerve Sheath Tumor

NIH Rare Diseases : 50 a malignant peripheral nerve sheath tumor (mpnst) is a tumor that develops in the protective lining that covers nerves. the first symptom of mpnst is often a lump or mass that increases in size, sometimes causing pain or a tingling sensation. mpnst is considered an aggressive tumor because there is up to a 65% chance of the tumor regrowing after surgery (a recurrence), and approximately 40% chance of spreading to distant parts of the body (a metastasis), most commonly to the lung. treatment of mpnst begins with surgery to remove as much of the tumor as possible. radiation therapy may be used to decrease the chance of a recurrence. chemotherapy might be used if the whole tumor cannot be removed during surgery, or to treat a metastasis. mpnsts are quite rare, occurring in 0.001% of the general population.  approximately 25-50% of mpnsts are associated with a genetic condition known as neurofibromatosis type 1. last updated: 8/18/2016

MalaCards based summary : Malignant Peripheral Nerve Sheath Tumor, also known as malignant neurilemmoma, is related to gastrointestinal stromal tumor and epithelioid malignant peripheral nerve sheath tumor. An important gene associated with Malignant Peripheral Nerve Sheath Tumor is MXI1 (MAX Interactor 1, Dimerization Protein), and among its related pathways/superpathways are ERK Signaling and Cytokine Signaling in Immune system. The drugs Doxorubicin and Ifosfamide have been mentioned in the context of this disorder. Affiliated tissues include lung, bone and breast, and related phenotypes are Decreased viability and homeostasis/metabolism

Wikipedia : 72 A malignant peripheral nerve sheath tumor (MPNST) (also known as \"malignant schwannoma\",... more...

Related Diseases for Malignant Peripheral Nerve Sheath Tumor

Diseases related to Malignant Peripheral Nerve Sheath Tumor via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 283)
id Related Disease Score Top Affiliating Genes
1 gastrointestinal stromal tumor 28.9 ACTC1 CDKN2A EGFR KIT NF1 PDGFRA
2 epithelioid malignant peripheral nerve sheath tumor 12.4
3 malignant triton tumor 11.9
4 childhood malignant schwannoma 11.9
5 adult malignant schwannoma 11.9
6 melanocytic psammomatous mpnst 11.8
7 neurofibrosarcoma 11.4
8 malignant melanocytic neoplasm of the peripheral nerve sheath 11.2
9 chromosome 17q11.2 deletion syndrome, 1.4-mb 11.1
10 brain stem astrocytic neoplasm 11.0 NF1 TP53
11 neurofibromatosis-noonan syndrome 11.0 NF1 NF2
12 cervical adenoid cystic carcinoma 11.0 CDKN2A TP53
13 pediatric infratentorial ependymoma 10.9 EGFR TP53
14 logopenic progressive aphasia 10.9 MUC1 S100B
15 heiner syndrome 10.9 MUC1 S100B
16 multiple carboxylase deficiency 10.9 CDKN2A EGFR TP53
17 middle ear squamous cell carcinoma 10.9 CDKN2A EGFR TP53
18 rnase t2-deficient leukoencephalopathy 10.9 CDK4 TP53
19 hypogonadotropic hypogonadism-retinitis pigmentosa syndrome 10.9 EGFR PDGFRA TP53
20 secondary hyperparathyroidism of renal origin 10.9 CDKN2A EGFR TP53
21 breast fibrosarcoma 10.9 EGFR S100B TP53
22 pancreatoblastoma 10.9 CDKN2A NF1 TP53
23 molluscum contagiosum 10.8 CDKN2A EGFR TP53
24 ductal carcinoma in situ 10.8 CDKN2A EGFR TP53
25 demyelinating disease 10.8 KIT NF1 NF2
26 rete testis neoplasm 10.8 CDKN2A EGFR PDGFRA
27 fallopian tube serous papilloma 10.8 KIT NF1 SOX10
28 myxedema 10.8 CDKN2A EGFR TP53
29 pancreatic agenesis 10.8 CDKN2A KIT TP53
30 extragonadal nonseminomatous germ cell tumor 10.8 EGFR KIT TP53
31 anaerobic pneumonia 10.8 CDKN2A EGFR TP53
32 renal pelvis urothelial papilloma 10.8 NF2 TP53
33 leiomyoma cutis 10.8 ACTC1 CDKN2A TP53
34 immune-mediated encephalomyelitis 10.8 S100B VIM
35 integumentary system cancer 10.8 CDKN2A EGFR TP53
36 mitochondrial metabolism disease 10.8 S100A1 S100B
37 breast adenoid cystic carcinoma 10.8 EGFR KIT PDGFRA
38 rectum kaposi's sarcoma 10.8 EGFR KIT TP53
39 gastrointestinal neuroendocrine tumor 10.8 CDKN2A KIT TP53
40 advanced sleep phase syndrome 10.8 CDKN2A MUC1 TP53
41 meningitis and encephalitis 10.8 MUC1 S100B
42 lymphocytic hypophysitis 10.8 ACTC1 VIM
43 fallopian tube mucinous tumor 10.8 CDKN2A EGFR TP53
44 retinal detachment 10.8 ACTC1 CDKN2A TP53
45 hemangioma of liver 10.8 ACTC1 S100B TP53
46 phobic disorder 10.8 CDKN2A MUC1 S100B
47 familial idiopathic steroid-resistant nephrotic syndrome with minimal changes 10.8 CDKN2A MUC1 S100B
48 choriocarcinoma 10.8 CDKN2A MUC1 TP53
49 marfanoid habitus-inguinal hernia-advanced bone age syndrome 10.8 ACTC1 KIT
50 gorham's disease 10.8 EGFR NRG1 PDGFRA

Graphical network of the top 20 diseases related to Malignant Peripheral Nerve Sheath Tumor:



Diseases related to Malignant Peripheral Nerve Sheath Tumor

Symptoms & Phenotypes for Malignant Peripheral Nerve Sheath Tumor

GenomeRNAi Phenotypes related to Malignant Peripheral Nerve Sheath Tumor according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.13 EGFR
2 Decreased viability GR00173-A 10.13 PDGFRA
3 Decreased viability GR00221-A-1 10.13 NF1 PDGFRA SMARCB1 CDKN2A EGFR KIT
4 Decreased viability GR00221-A-2 10.13 NF1 SMARCB1
5 Decreased viability GR00221-A-3 10.13 PDGFRA SMARCB1 CDKN2A
6 Decreased viability GR00221-A-4 10.13 NF1 PDGFRA CDKN2A EGFR
7 Decreased viability GR00301-A 10.13 KIT
8 Decreased viability GR00381-A-1 10.13 SMARCB1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-100 10.02 S100B SMARCB1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-102 10.02 KIT
11 Increased shRNA abundance (Z-score > 2) GR00366-A-103 10.02 SOX10
12 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.02 VIM
13 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.02 SMARCB1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10.02 CDK4 SOX10
15 Increased shRNA abundance (Z-score > 2) GR00366-A-118 10.02 EGFR
16 Increased shRNA abundance (Z-score > 2) GR00366-A-121 10.02 EGFR
17 Increased shRNA abundance (Z-score > 2) GR00366-A-122 10.02 SMARCB1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-146 10.02 VIM
19 Increased shRNA abundance (Z-score > 2) GR00366-A-152 10.02 KIT
20 Increased shRNA abundance (Z-score > 2) GR00366-A-157 10.02 KIT
21 Increased shRNA abundance (Z-score > 2) GR00366-A-170 10.02 KIT
22 Increased shRNA abundance (Z-score > 2) GR00366-A-176 10.02 VIM SMARCB1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.02 VIM SOX10
24 Increased shRNA abundance (Z-score > 2) GR00366-A-189 10.02 VIM
25 Increased shRNA abundance (Z-score > 2) GR00366-A-190 10.02 VIM EGFR
26 Increased shRNA abundance (Z-score > 2) GR00366-A-194 10.02 SMARCB1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-21 10.02 CDK4 EGFR
28 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.02 EGFR
29 Increased shRNA abundance (Z-score > 2) GR00366-A-29 10.02 VIM
30 Increased shRNA abundance (Z-score > 2) GR00366-A-30 10.02 KIT VIM
31 Increased shRNA abundance (Z-score > 2) GR00366-A-32 10.02 SOX10
32 Increased shRNA abundance (Z-score > 2) GR00366-A-42 10.02 KIT CDK4
33 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.02 EGFR
34 Increased shRNA abundance (Z-score > 2) GR00366-A-46 10.02 CDK4
35 Increased shRNA abundance (Z-score > 2) GR00366-A-49 10.02 SOX10
36 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.02 VIM S100B
37 Increased shRNA abundance (Z-score > 2) GR00366-A-7 10.02 SOX10
38 Increased shRNA abundance (Z-score > 2) GR00366-A-70 10.02 SOX10
39 Increased shRNA abundance (Z-score > 2) GR00366-A-81 10.02 SOX10
40 Increased shRNA abundance (Z-score > 2) GR00366-A-83 10.02 SMARCB1
41 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.02 KIT VIM S100B SMARCB1 CDK4 SOX10
42 Increased shRNA abundance (Z-score > 2) GR00366-A-9 10.02 KIT
43 Increased shRNA abundance (Z-score > 2) GR00366-A-99 10.02 KIT
44 Decreased cell migration GR00055-A-1 9.73 CDK4 EGFR MUC1 NF1 NF2 VIM
45 Increased proliferation GR00094-A 9.13 NF2 SMARCB1 TP53

MGI Mouse Phenotypes related to Malignant Peripheral Nerve Sheath Tumor:

44 (show all 25)
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.45 ACTC1 CDK4 CDKN2A EGFR KIT VIM
2 behavior/neurological MP:0005386 10.44 CDK4 CDKN2A KIT NF1 NF2 PDGFRA
3 cellular MP:0005384 10.42 EGFR KIT MXI1 NF1 PDGFRA S100A1
4 cardiovascular system MP:0005385 10.4 ACTC1 CDK4 CDKN2A EGFR HTRA1 KIT
5 growth/size/body region MP:0005378 10.39 ACTC1 CDK4 CDKN2A EGFR HTRA1 KIT
6 mortality/aging MP:0010768 10.34 VIM ACTC1 CDK4 CDKN2A EGFR KIT
7 embryo MP:0005380 10.33 CDK4 CDKN2A EGFR KIT NF1 NF2
8 digestive/alimentary MP:0005381 10.3 PDGFRA SH3PXD2A SMARCB1 SOX10 TP53 CDK4
9 hematopoietic system MP:0005397 10.3 NF1 PDGFRA SH3PXD2A SMARCB1 TP53 VIM
10 endocrine/exocrine gland MP:0005379 10.28 CDKN2A EGFR KIT MXI1 NF1 NF2
11 immune system MP:0005387 10.28 CDK4 CDKN2A EGFR KIT MXI1 NF1
12 integument MP:0010771 10.22 S100B SOX10 TP53 CDK4 CDKN2A EGFR
13 muscle MP:0005369 10.22 KIT NF1 PDGFRA S100A1 SMARCB1 TP53
14 neoplasm MP:0002006 10.2 CDK4 CDKN2A EGFR KIT MXI1 NF1
15 nervous system MP:0003631 10.17 CDK4 CDKN2A EGFR KIT NF1 NF2
16 craniofacial MP:0005382 10.15 EGFR KIT NF1 NF2 PDGFRA SH3PXD2A
17 liver/biliary system MP:0005370 10.11 CDK4 CDKN2A EGFR KIT NF1 NF2
18 normal MP:0002873 10.1 SOX10 TP53 ACTC1 CDK4 EGFR KIT
19 hearing/vestibular/ear MP:0005377 9.97 EGFR KIT NF1 NF2 TP53
20 pigmentation MP:0001186 9.97 CDK4 CDKN2A EGFR KIT NF1 PDGFRA
21 reproductive system MP:0005389 9.96 CDK4 CDKN2A EGFR KIT MXI1 NF2
22 renal/urinary system MP:0005367 9.92 CDK4 EGFR KIT MXI1 NF1 NF2
23 respiratory system MP:0005388 9.85 CDKN2A EGFR KIT NF1 NF2 PDGFRA
24 skeleton MP:0005390 9.61 CDKN2A EGFR HTRA1 KIT NF1 NF2
25 vision/eye MP:0005391 9.32 CDK4 CDKN2A EGFR HTRA1 KIT NF1

Drugs & Therapeutics for Malignant Peripheral Nerve Sheath Tumor

Drugs for Malignant Peripheral Nerve Sheath Tumor (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 101)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Doxorubicin Approved, Investigational Phase 3,Phase 2,Phase 1 23214-92-8 31703
2
Ifosfamide Approved Phase 3,Phase 2,Phase 1 3778-73-2 3690
3
Mechlorethamine Approved Phase 3,Phase 2,Phase 1 51-75-2 4033
4
Dacarbazine Approved, Investigational Phase 3,Phase 2 4342-03-4 5351166
5
Etoposide Approved Phase 3,Phase 2 33419-42-0 36462
6
Lenograstim Approved Phase 3,Phase 2 135968-09-1
7
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
8
Cyclophosphamide Approved, Investigational Phase 3,Phase 2 50-18-0, 6055-19-2 2907
9
Dactinomycin Approved Phase 3 50-76-0 2019 457193
10
Epirubicin Approved Phase 3 56420-45-2 41867
11
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
12
Trabectedin Approved, Investigational Phase 3,Phase 2 114899-77-3 108150
13
Gemcitabine Approved Phase 3,Phase 2,Phase 1 95058-81-4 60750
14
Cyproheptadine Approved Phase 3 129-03-3 2913
15
Histamine Approved, Investigational Phase 3 75614-87-8, 51-45-6 774
16
Doxil Approved June 1999 Phase 3,Phase 2,Phase 1 31703
17
Docetaxel Approved May 1996, Investigational Phase 3,Phase 1,Phase 2 114977-28-5 148124 9877265
18 Alkylating Agents Phase 3,Phase 2,Phase 1
19 Anti-Bacterial Agents Phase 3,Phase 2,Phase 1
20 Antibiotics, Antitubercular Phase 3,Phase 2,Phase 1
21 Isophosphamide mustard Phase 3,Phase 2,Phase 1
22 Topoisomerase Inhibitors Phase 3,Phase 2,Phase 1
23 Antineoplastic Agents, Phytogenic Phase 3,Phase 2
24 Etoposide phosphate Phase 3,Phase 2
25 Anti-Infective Agents Phase 3,Phase 1,Phase 2
26 Antimitotic Agents Phase 3,Phase 2,Phase 1
27 Antirheumatic Agents Phase 3,Phase 1
28 Immunosuppressive Agents Phase 3,Phase 1,Phase 2
29 Nucleic Acid Synthesis Inhibitors Phase 3
30 Imatinib Mesylate Phase 2, Phase 3,Phase 1 123596
31 Protein Kinase Inhibitors Phase 2, Phase 3,Phase 1
32 Antimetabolites Phase 3,Phase 2,Phase 1
33 Antimetabolites, Antineoplastic Phase 3,Phase 2,Phase 1
34 Antiviral Agents Phase 3,Phase 2,Phase 1
35 Anti-Allergic Agents Phase 3
36 Antipruritics Phase 3
37 Dermatologic Agents Phase 3
38 Gastrointestinal Agents Phase 3
39 Histamine Antagonists Phase 3
40 Histamine H1 Antagonists Phase 3
41
Histamine Phosphate Phase 3 51-74-1 65513
42 Neurotransmitter Agents Phase 3
43
Serotonin Phase 3 50-67-9 5202
44 Serotonin Agents Phase 3
45 Serotonin Antagonists Phase 3
46
Temozolomide Approved, Investigational Phase 2 85622-93-1 5394
47
Sorafenib Approved, Investigational Phase 2 284461-73-0 216239 406563
48
Romidepsin Approved, Investigational Phase 2 128517-07-7 5352062
49
Everolimus Approved Phase 1, Phase 2 159351-69-6 6442177
50
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189

Interventional clinical trials:

(show top 50) (show all 72)

id Name Status NCT ID Phase Drugs
1 Ifosfamide and Doxorubicin, Radiation Therapy, and/or Surgery in Treating Young Patients With Localized Soft Tissue Sarcoma Unknown status NCT00334854 Phase 3 doxorubicin hydrochloride;ifosfamide
2 Observation, Radiation Therapy, Combination Chemotherapy, and/or Surgery in Treating Young Patients With Soft Tissue Sarcoma Completed NCT00346164 Phase 3 doxorubicin hydrochloride;ifosfamide
3 Ifosfamide or Doxorubicin in Treating Patients With Advanced or Metastatic Soft Tissue Sarcoma Completed NCT00003212 Phase 3 doxorubicin hydrochloride;ifosfamide
4 Combination Chemotherapy With or Without Hyperthermia Therapy in Treating Patients With Soft Tissue Sarcoma Completed NCT00003052 Phase 3 doxorubicin hydrochloride;etoposide;ifosfamide
5 Surgery With or Without Combination Chemotherapy in Treating Patients With Lung Metastases From Soft Tissue Sarcoma Completed NCT00002764 Phase 3 doxorubicin hydrochloride;ifosfamide
6 Surgery With or Without Chemotherapy in Treating Patients With Soft Tissue Sarcoma Completed NCT00002641 Phase 3 doxorubicin hydrochloride;ifosfamide;isolated perfusion
7 Surgery With or Without Radiation Therapy in Treating Patients With Primary Soft Tissue Sarcoma of the Retroperitoneum or Pelvis Completed NCT00091351 Phase 3
8 Doxorubicin With or Without Ifosfamide and Pegfilgrastim in Treating Patients With Locally Advanced or Metastatic Soft Tissue Sarcoma Completed NCT00061984 Phase 3 doxorubicin hydrochloride;ifosfamide
9 Surgery Followed by Chemotherapy in Treating Young Patients With Soft Tissue Sarcoma Completed NCT00002898 Phase 3 carboplatin;cyclophosphamide;epirubicin hydrochloride;etoposide;ifosfamide;vincristine sulfate
10 Localized High-Risk Soft Tissue Sarcomas Of The Extremities And Trunk Wall In Adults: An Integrating Approach Comprising Standard Vs Histotype-Tailored Neoadjuvant Chemotherapy Recruiting NCT01710176 Phase 3 epirubicin 60 mg/m2/day (days 1, 2) and ifosfamide 3 g/m2/day (days 1, 2, 3);gemcitabine 900 mg/m2 (days 1 and 8) and docetaxel 75 mg/m2 (day 8);trabectedin 1.3 mg/m2;high-dose ifosfamide 14 g/m2, given in in 14 days;etoposide 150 mg/m2/day (days 1, 2, 3) and ifosfamide 3g/m2/day (days 1, 2, 3);gemcitabine 1800 mg/m2 (day 1) and dacarbazine 500 mg/m2 (day 1)
11 Radiation Therapy With or Without Combination Chemotherapy or Pazopanib Hydrochloride Before Surgery in Treating Patients With Newly Diagnosed Non-rhabdomyosarcoma Soft Tissue Sarcomas That Can Be Removed by Surgery Recruiting NCT02180867 Phase 2, Phase 3 Doxorubicin Hydrochloride;Ifosfamide;Pazopanib Hydrochloride
12 Randomised Trial of Volume of Post-operative Radiotherapy Given to Adult Patients With eXtremity Soft Tissue Sarcoma Active, not recruiting NCT00423618 Phase 3
13 Imatinib Mesylate Treatment of Patients With Malignant Peripheral Nerve Sheath Tumors Terminated NCT00427583 Phase 2, Phase 3 imatinib mesylate
14 Doxorubicin Hydrochloride or Trabectedin in Treating Patients With Previously Untreated Advanced or Metastatic Soft Tissue Sarcoma Terminated NCT01189253 Phase 2, Phase 3 doxorubicin hydrochloride;trabectedin
15 Cyproheptadine in Preventing Weight Loss in Children Receiving Chemotherapy for Cancer Terminated NCT01132547 Phase 3 cyproheptadine hydrochloride
16 Temozolomide in Treating Patients With Advanced Soft Tissue Sarcoma Unknown status NCT00003718 Phase 2 temozolomide
17 Brostallicin or Doxorubicin as First-Line Therapy in Treating Patients With Relapsed, Refractory, or Metastatic Soft Tissue Sarcoma Unknown status NCT00410462 Phase 2 brostallicin;doxorubicin hydrochloride
18 S0330 Erlotinib in Treating Patients With Unresectable or Metastatic Malignant Peripheral Nerve Sheath Tumor Completed NCT00068367 Phase 2 erlotinib hydrochloride
19 Combination Chemotherapy in Treating Patients With Stage III or Stage IV Malignant Peripheral Nerve Sheath Tumors Completed NCT00304083 Phase 2 doxorubicin hydrochloride;etoposide;ifosfamide
20 Sorafenib and Dacarbazine in Soft Tissue Sarcoma Completed NCT00837148 Phase 2 Sorafenib and Dacarbazine
21 Vismodegib and Gamma-Secretase/Notch Signalling Pathway Inhibitor RO4929097 in Treating Patients With Advanced or Metastatic Sarcoma Completed NCT01154452 Phase 1, Phase 2 Gamma-Secretase Inhibitor RO4929097;Vismodegib
22 Sorafenib in Treating Patients With Metastatic, Locally Advanced, or Recurrent Sarcoma Completed NCT00245102 Phase 2 sorafenib tosylate
23 Depsipeptide (Romidepsin) in Treating Patients With Metastatic or Unresectable Soft Tissue Sarcoma Completed NCT00112463 Phase 2 romidepsin
24 Safety and Efficacy Study of Torisel and Liposomal Doxorubicin for Patients With Recurrent Sarcoma Completed NCT00949325 Phase 1, Phase 2 temsirolimus (Torisel) plus liposomal doxorubicin (Doxil)
25 Phase II Study of Imatinib Mesylate in Patients With Life Threatening Malignant Rare Diseases Completed NCT00154388 Phase 2 Imatinib mesylate
26 Brostallicin in Treating Patients With Locally Advanced or Metastatic Soft Tissue Sarcoma Completed NCT00041249 Phase 2 brostallicin
27 Exatecan Mesylate in Treating Patients With Advanced Soft Tissue Sarcoma Completed NCT00041236 Phase 2 exatecan mesylate
28 STI571 in Treating Patients With Recurrent or Refractory Soft Tissue Sarcoma Completed NCT00006357 Phase 1, Phase 2 imatinib mesylate
29 Ecteinascidin 743 in Treating Patients With Advanced Soft Tissue Sarcoma Completed NCT00003939 Phase 2 trabectedin
30 BI 2536 in Treating Patients With Recurrent or Metastatic Solid Tumors Completed NCT00526149 Phase 2 BI 2536
31 Sunitinib in Treating Patients With Metastatic, Locally Advanced, or Locally Recurrent Sarcomas Completed NCT00474994 Phase 2 sunitinib malate
32 Perifosine in Treating Patients With Metastatic or Locally Advanced Soft Tissue Sarcoma Completed NCT00053794 Phase 2 perifosine
33 Imatinib Mesylate in Treating Patients With Advanced Soft Tissue Sarcoma or Bone Sarcoma Completed NCT00031915 Phase 2 imatinib mesylate
34 A Study of Pembrolizumab in Patients With Malignant Peripheral Nerve Sheath Tumor (MPNST), Not Eligible for Curative Surgery Recruiting NCT02691026 Phase 2 Pembrolizumab
35 PLX3397 Plus Sirolimus in Unresectable Sarcoma and Malignant Peripheral Nerve Sheath Tumors Recruiting NCT02584647 Phase 1, Phase 2 PLX3397;Sirolimus
36 A Phase II, Multicenter Study of the EZH2 Inhibitor Tazemetostat in Adult Subjects With INI1-Negative Tumors or Relapsed/Refractory Synovial Sarcoma Recruiting NCT02601950 Phase 2 Tazemetostat
37 Nivolumab and Ipilimumab in Treating Patients With Rare Tumors Recruiting NCT02834013 Phase 2
38 Phase 1/2 Study of LOXO-195 in Patients With Previously Treated NTRK Fusions or Non-fusion NTRK Cancers Recruiting NCT03215511 Phase 1, Phase 2 LOXO-195
39 Gemcitabine Hydrochloride With or Without Pazopanib Hydrochloride in Treating Patients With Refractory Soft Tissue Sarcoma Recruiting NCT01532687 Phase 2 Gemcitabine Hydrochloride;Pazopanib Hydrochloride
40 Doxorubicin With Upfront Dexrazoxane Plus Olaratumab for the Treatment of Advanced or Metastatic Soft Tissue Sarcoma Recruiting NCT02584309 Phase 2 Dexrazoxane;Doxorubicin;Olaratumab
41 Autologous Dendritic Cell Vaccine Loaded With Allogeneic Tumor Lysate Expression of Cancer Testis Antigens in Patients With Soft Tissue Sarcoma Recruiting NCT01883518 Phase 1, Phase 2
42 SARC016: Study of Everolimus With Bevacizumab to Treat Refractory Malignant Peripheral Nerve Sheath Tumors Active, not recruiting NCT01661283 Phase 2 everolimus;bevacizumab
43 SARC023: Ganetespib and Sirolimos in Patients With MPNST (Malignant Peripheral Nerve Sheath Tumors) Active, not recruiting NCT02008877 Phase 1, Phase 2 ganetespib;Sirolimus
44 Lorvotuzumab Mertansine in Treating Younger Patients With Relapsed or Refractory Wilms Tumor, Rhabdomyosarcoma, Neuroblastoma, Pleuropulmonary Blastoma, Malignant Peripheral Nerve Sheath Tumor, or Synovial Sarcoma Active, not recruiting NCT02452554 Phase 2
45 Trial of Dasatinib in Advanced Sarcomas Active, not recruiting NCT00464620 Phase 2 Dasatinib
46 Alisertib in Treating Patients With Advanced or Metastatic Sarcoma Active, not recruiting NCT01653028 Phase 2 Alisertib
47 Cixutumumab and Temsirolimus in Treating Younger Patients With Recurrent or Refractory Sarcoma Active, not recruiting NCT01614795 Phase 2 temsirolimus
48 Study of CPI-0610 in Patients With Malignant Peripheral Nerve Sheath Tumors Not yet recruiting NCT02986919 Phase 2 CPI-0610
49 Sapanisertib or Pazopanib Hydrochloride in Treating Patients With Locally Advanced or Metastatic Sarcoma Suspended NCT02601209 Phase 1, Phase 2 Pazopanib Hydrochloride;Sapanisertib
50 Gemcitabine and Docetaxel in Combination With Pazopanib (Gem/Doce/Pzb) for the Neoadjuvant Treatment of Soft Tissue Sarcoma (STS) Terminated NCT01418001 Phase 1, Phase 2 Gemcitabine and Docetaxel in Combination with Pazopanib

Search NIH Clinical Center for Malignant Peripheral Nerve Sheath Tumor

Genetic Tests for Malignant Peripheral Nerve Sheath Tumor

Anatomical Context for Malignant Peripheral Nerve Sheath Tumor

MalaCards organs/tissues related to Malignant Peripheral Nerve Sheath Tumor:

39
Lung, Bone, Breast, Kidney, Testis, Cervix, Spinal Cord

Publications for Malignant Peripheral Nerve Sheath Tumor

Articles related to Malignant Peripheral Nerve Sheath Tumor:

(show top 50) (show all 573)
id Title Authors Year
1
Successful treatment with doxorubicin and ifosfamide for mediastinal malignant peripheral nerve sheath tumor with loss of H3K27me3 expression. ( 28876532 )
2017
2
Doxycycline potentiates antitumor effect of 5-aminolevulinic acid-mediated photodynamic therapy in malignant peripheral nerve sheath tumor cells. ( 28558025 )
2017
3
Targeting group I p21-activated kinases to control malignant peripheral nerve sheath tumor growth and metastasis. ( 28534510 )
2017
4
Malignant peripheral nerve sheath tumor with and without neurofibromatosis type 1. ( 28658406 )
2017
5
Rexin-G(Ar), a tumor-targeted retrovector for malignant peripheral nerve sheath tumor: A case report. ( 28588778 )
2017
6
The Cellular Retinoic Acid Binding Protein 2 Promotes Survival of Malignant Peripheral Nerve Sheath Tumor Cells. ( 28502478 )
2017
7
Histopathologic evaluation of atypical neurofibromatous tumors and their transformation into malignant peripheral nerve sheath tumor in patients with neurofibromatosis 1-a consensus overview. ( 28551330 )
2017
8
Malignant Triton Tumor (Malignant Peripheral Nerve Sheath Tumor With Rhabdomyoblastic Differentiation) Occurring in a Vascularized Free Flap Reconstruction Graft. ( 28387148 )
2017
9
Antitumor effects of 4-methylumbelliferone, a hyaluronan synthesis inhibitor, on malignant peripheral nerve sheath tumor. ( 27706810 )
2017
10
Clinical genomic profiling identifies TYK2 mutation and overexpression in patients with neurofibromatosis type 1-associated malignant peripheral nerve sheath tumors. ( 27875628 )
2017
11
Acute hydrocephalus due to a primary malignant peripheral nerve sheath tumor of the cervicothoracic junction: A case report and review of the literature. ( 28502561 )
2017
12
Unusual primary breast cancer - malignant peripheral nerve sheath tumor: a case report and review of the literature. ( 28622765 )
2017
13
Spindle cell type malignant peripheral nerve sheath tumor arising in benign schwannoma with multiple intraosseous spinal metastasis: A case report. ( 28505957 )
2017
14
Loss of H3K27 trimethylation is not suitable for distinguishing malignant peripheral nerve sheath tumor from melanoma: a study of 387 cases including mimicking lesions. ( 28752843 )
2017
15
Role of Histone H3K27 Trimethylation Loss as a Marker for Malignant Peripheral Nerve Sheath Tumor in Fine-Needle Aspiration and Small Biopsy Specimens. ( 28898989 )
2017
16
NF1(+/-) Hematopoietic Cells Accelerate Malignant Peripheral Nerve Sheath Tumor Development without Altering Chemotherapy Response. ( 28646022 )
2017
17
Malignant Peripheral Nerve Sheath Tumor of the Femur: A Rare Diagnosis Supported by Complete Immunohistochemical Loss of H3K27me3. ( 28508686 )
2017
18
Metastatic angiosarcoma arising in malignant peripheral nerve sheath tumor in a young patient with neurofibromatosis type 1. ( 28548697 )
2017
19
Primary Intraosseous Malignant Peripheral Nerve Sheath Tumor of Metacarpal Bones of the Hand in a Patient Without Neurofibromatosis 1: Report of a Rare Case. ( 28900340 )
2017
20
Confirmation of mutation landscape of NF1-associated malignant peripheral nerve sheath tumors. ( 28124441 )
2017
21
Hypoxia-inducible factor 1 alpha is a poor prognostic factor and potential therapeutic target in malignant peripheral nerve sheath tumor. ( 28558056 )
2017
22
CHD4 as a Potential Biomarker in Differentiating Between Cellular Schwannoma and Malignant Peripheral Nerve Sheath Tumor. ( 28549031 )
2017
23
Radiation-Induced Glandular Malignant Peripheral Nerve Sheath Tumor. ( 28530162 )
2017
24
Malignant Peripheral Nerve Sheath Tumor -A Rare Malignancy in Mandible. ( 27504425 )
2016
25
Massive exophytic malignant peripheral nerve sheath tumor. ( 27257459 )
2016
26
Malignant peripheral nerve sheath tumor coexisting with congenital melanocytic nevus in an elderly man. ( 26897251 )
2016
27
Prognostic roles for fibroblast growth factor receptor family members in malignant peripheral nerve sheath tumor. ( 26993773 )
2016
28
MAGEA3 methylation status is associated with prognosis of malignant peripheral nerve sheath tumor and with neurofibroma type in neurofibromatosis type 1. ( 27422441 )
2016
29
Malignant Peripheral Nerve Sheath Tumor of the Infraorbital Nerve. ( 27162577 )
2016
30
Breast metastases from a malignant peripheral nerve sheath tumor of the kidney: An unusual presentation. ( 27453670 )
2016
31
Malignant Peripheral Nerve Sheath Tumor of Prostate: A Rare Case Report and Literature Review. ( 27872789 )
2016
32
Radiological findings of malignant peripheral nerve sheath tumor: reports of six cases and review of literature. ( 27159980 )
2016
33
BH3 mimetics suppress CXCL12 expression in human malignant peripheral nerve sheath tumor cells. ( 28055968 )
2016
34
Synchronous Malignant Peripheral Nerve Sheath Tumor and Adenocarcinoma of the Prostate: Case Report and Literature Review. ( 27872787 )
2016
35
Comprehensive adipocytic and neurogenic tissue microarray analysis of NY-ESO-1 expression - a promising immunotherapy target in malignant peripheral nerve sheath tumor and liposarcoma. ( 27655679 )
2016
36
Aberrant demethylation and expression of MAGEB2 in a subset of malignant peripheral nerve sheath tumors from neurofibromatosis type 1. ( 26642794 )
2016
37
Malignant peripheral nerve sheath tumor in the paraspinal region mimicking a benign peripheral nerve sheath tumor: a case report. ( 27679432 )
2016
38
Malignant Peripheral Nerve Sheath Tumor of the Jugular Foramen. ( 27223674 )
2016
39
Low-grade malignant peripheral nerve sheath tumor: a report of the first case in the breast and literature review. ( 26899712 )
2016
40
Primary hepatic malignant peripheral nerve sheath tumor successfully treated with combination therapy: a case report and literature review. ( 27904856 )
2016
41
Malignant Peripheral Nerve Sheath Tumor. ( 27591499 )
2016
42
Poly (ADP) ribose polymerase inhibition: A potential treatment of malignant peripheral nerve sheath tumor. ( 26650448 )
2016
43
Malignant peripheral nerve sheath tumor in three patients of advanced age. ( 26713647 )
2016
44
Intraneural ganglion cyst of the ulnar nerve at the elbow masquerading as a malignant peripheral nerve sheath tumor. ( 27593718 )
2016
45
Malignant Peripheral Nerve Sheath Tumor With Osseous Heterologous Differentiation in Uncommon Locations (Heart and Retropharynx). ( 26888958 )
2016
46
Palliative Epineurotomy for Focal Radial Malignant Peripheral Nerve Sheath Tumor in a Dog. ( 27487351 )
2016
47
Malignant peripheral nerve sheath tumor in the cervical spine with multiple nevus cell nevi. ( 26740424 )
2016
48
A Case of Occipital Malignant Peripheral Nerve Sheath Tumor with Neurofibromatosis Type 1. ( 27628604 )
2016
49
A Rare Malignant Peripheral Nerve Sheath Tumor of the Maxilla Mimicking a Periapical Lesion. ( 27994888 )
2016
50
Composite pheochromocytoma with a malignant peripheral nerve sheath tumor: Case report and review of the literature. ( 27338175 )
2016

Variations for Malignant Peripheral Nerve Sheath Tumor

ClinVar genetic disease variations for Malignant Peripheral Nerve Sheath Tumor:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MXI1 NM_130439.3(MXI1): c.362C> T (p.Ala121Val) single nucleotide variant Pathogenic rs137852604 GRCh37 Chromosome 10, 111988034: 111988034

Copy number variations for Malignant Peripheral Nerve Sheath Tumor from CNVD:

7 (show all 45)
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 17387 1 142600000 147000000 Gain Malignant peripheral nerve sheath tumor
2 22132 1 165500000 170900000 Gain Malignant peripheral nerve sheath tumor
3 23047 1 170900000 176000000 Gain Malignant peripheral nerve sheath tumor
4 49109 11 102900000 112500000 Loss Malignant peripheral nerve sheath tumor
5 49995 11 112500000 121200000 Loss Malignant peripheral nerve sheath tumor
6 53584 11 31000000 36400000 Loss Malignant peripheral nerve sheath tumor
7 61507 12 1 3100000 Gain FOXM1 Malignant peripheral nerve sheath tumor
8 65742 12 21200000 26300000 Amplification SOX5 Malignant peripheral nerve sheath tumor
9 66816 12 3300000 10100000 Gain Malignant peripheral nerve sheath tumor
10 67235 12 38200000 49100000 Gain Malignant peripheral nerve sheath tumor
11 69080 12 5300000 10000000 Gain NOL1 Malignant peripheral nerve sheath tumor
12 69882 12 56428269 56432431 Gain CDK4 Malignant peripheral nerve sheath tumor
13 69960 12 56600000 71500000 Gain Malignant peripheral nerve sheath tumor
14 71535 12 71500000 86700000 Gain Malignant peripheral nerve sheath tumor
15 73254 12 92600000 109000000 Gain Malignant peripheral nerve sheath tumor
16 73259 12 92600000 96200000 Gain Malignant peripheral nerve sheath tumor
17 75380 13 19500000 25500000 Gain Malignant peripheral nerve sheath tumor
18 76637 13 34000000 55300000 Gain Malignant peripheral nerve sheath tumor
19 79536 13 73300000 77200000 Gain Malignant peripheral nerve sheath tumor
20 85488 14 47200000 67900000 Loss Malignant peripheral nerve sheath tumor
21 87451 14 73800000 107349540 Gain Malignant peripheral nerve sheath tumor
22 97234 16 1 10500000 Gain Malignant peripheral nerve sheath tumor
23 102841 16 57400000 90354753 Gain Malignant peripheral nerve sheath tumor
24 105377 16 7900000 14800000 Gain Malignant peripheral nerve sheath tumor
25 115613 17 58300000 81195210 Gain Malignant peripheral nerve sheath tumor
26 124065 19 1 13900000 Gain Malignant peripheral nerve sheath tumor
27 147242 2 61300000 68600000 Gain Malignant peripheral nerve sheath tumor
28 150135 2 96800000 114400000 Gain Malignant peripheral nerve sheath tumor
29 163892 22 32200000 44200000 Gain Malignant peripheral nerve sheath tumor
30 172609 3 184500000 198022430 Gain Malignant peripheral nerve sheath tumor
31 174546 3 2800000 16400000 Gain Malignant peripheral nerve sheath tumor
32 175421 3 39400000 54400000 Gain Malignant peripheral nerve sheath tumor
33 196162 5 159900000 180915260 Gain Malignant peripheral nerve sheath tumor
34 198008 5 18400000 23300000 Gain Malignant peripheral nerve sheath tumor
35 209673 6 27000000 57000000 Gain Malignant peripheral nerve sheath tumor
36 213890 6 52900000 70000000 Gain Malignant peripheral nerve sheath tumor
37 220382 7 13800000 43300000 Gain Malignant peripheral nerve sheath tumor
38 227906 7 72200000 86400000 Gain Malignant peripheral nerve sheath tumor
39 240607 8 52600000 146364022 Gain Malignant peripheral nerve sheath tumor
40 241476 8 6200000 36500000 Gain Malignant peripheral nerve sheath tumor
41 244863 9 1 14200000 Gain Malignant peripheral nerve sheath tumor
42 247559 9 130300000 135900000 Gain Malignant peripheral nerve sheath tumor
43 249423 9 14200000 28000000 Loss Malignant peripheral nerve sheath tumor
44 255080 9 72339785 73251640 Dramatically overexp ressed,genomicallyamplified TRPM3 Malignant peripheral nerve sheath tumor
45 255774 9 84100000 102600000 Gain Malignant peripheral nerve sheath tumor

Expression for Malignant Peripheral Nerve Sheath Tumor

Search GEO for disease gene expression data for Malignant Peripheral Nerve Sheath Tumor.

Pathways for Malignant Peripheral Nerve Sheath Tumor

Pathways related to Malignant Peripheral Nerve Sheath Tumor according to GeneCards Suite gene sharing:

(show all 23)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.78 CDK4 CDKN2A EGFR KIT MUC1 NF1
2
Show member pathways
13.26 EGFR KIT MUC1 NF1 NRG1 PDGFRA
3
Show member pathways
12.63 EGFR KIT NRG1 PDGFRA TP53
4 12.51 CDK4 CDKN2A EGFR KIT PDGFRA TP53
5
Show member pathways
12.41 EGFR MUC1 NRG1 TP53
6 12.4 CDKN2A EGFR PDGFRA TP53 VIM
7 12.37 CDK4 CDKN2A TOP2A TP53 VIM
8
Show member pathways
12.28 CDK4 CDKN2A EGFR KIT NF1 NRG1
9 12.06 CDK4 EGFR NF1 TP53
10 12.01 EGFR KIT NRG1 PDGFRA
11
Show member pathways
11.96 CDK4 EGFR NF1 NRG1
12 11.86 CDK4 EGFR TP53 VIM
13 11.64 CDKN2A TOP2A TP53
14
Show member pathways
11.63 EGFR KIT PDGFRA
15 11.61 PDGFRA S100B SOX10 VIM
16 11.53 CDK4 CDKN2A EGFR TP53
17 11.5 CDK4 NF1 PDGFRA
18 11.37 EGFR KIT PDGFRA TP53
19 11.21 CDK4 CDKN2A EGFR NF1 NF2 PDGFRA
20 11.19 EGFR TOP2A TP53
21 11.18 ACTC1 KIT NRG1 PDGFRA
22 11.14 CDK4 CDKN2A TP53
23 10.96 CDKN2A EGFR PDGFRA TP53

GO Terms for Malignant Peripheral Nerve Sheath Tumor

Cellular components related to Malignant Peripheral Nerve Sheath Tumor according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 protein complex GO:0043234 9.63 CDK4 PDGFRA S100A1 SMARCB1 TOP2A TP53
2 cytoplasm GO:0005737 9.58 ACTC1 CDK4 CDKN2A EGFR HTRA1 KIT
3 nucleolus GO:0005730 9.56 CDK4 CDKN2A MXI1 NF1 NF2 SMARCB1
4 cell body GO:0044297 9.5 ACTC1 NF2 NRG1
5 nucleus GO:0005634 10.13 CDK4 CDKN2A EGFR MUC1 MXI1 NF1

Biological processes related to Malignant Peripheral Nerve Sheath Tumor according to GeneCards Suite gene sharing:

(show all 25)
id Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.95 CDKN2A MXI1 NF1 NF2 SMARCB1 TP53
2 MAPK cascade GO:0000165 9.91 EGFR KIT NF1 NRG1 PDGFRA
3 peptidyl-tyrosine phosphorylation GO:0018108 9.85 EGFR KIT NRG1 PDGFRA
4 regulation of cell proliferation GO:0042127 9.85 CDK4 EGFR KIT NF1 NF2
5 phosphatidylinositol phosphorylation GO:0046854 9.8 EGFR KIT NRG1 PDGFRA
6 Ras protein signal transduction GO:0007265 9.77 CDKN2A NF1 TP53
7 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.75 KIT NRG1 PDGFRA
8 positive regulation of fibroblast proliferation GO:0048146 9.73 CDK4 EGFR PDGFRA
9 wound healing GO:0042060 9.73 EGFR NF1 NRG1 PDGFRA
10 positive regulation of apoptotic process GO:0043065 9.73 CDK4 CDKN2A NF1 S100B TOP2A TP53
11 regulation of phosphatidylinositol 3-kinase signaling GO:0014066 9.67 EGFR KIT NRG1 PDGFRA
12 replicative senescence GO:0090399 9.62 CDKN2A TP53
13 cardiac myofibril assembly GO:0055003 9.61 ACTC1 PDGFRA
14 somatic stem cell division GO:0048103 9.61 CDKN2A KIT
15 cellular response to drug GO:0035690 9.59 EGFR TP53
16 positive regulation of phospholipase C activity GO:0010863 9.58 KIT PDGFRA
17 peripheral nervous system development GO:0007422 9.58 NF1 NRG1 SOX10
18 positive regulation of histone H4 acetylation GO:0090240 9.54 MUC1 SMARCB1
19 negative regulation of cell-matrix adhesion GO:0001953 9.5 CDKN2A NF1 NF2
20 phosphatidylinositol-mediated signaling GO:0048015 9.35 EGFR KIT NRG1 PDGFRA TP53
21 tongue development GO:0043586 9.32 EGFR
22 positive regulation of gene expression GO:0010628 9.02 ACTC1 KIT NRG1 TP53 VIM
23 positive regulation of myelination GO:0031643 8.85 NRG1
24 positive regulation of transcription from RNA polymerase II promoter GO:0045944 10.11 CDKN2A EGFR NRG1 SMARCB1 SOX10 TOP2A
25 positive regulation of cell proliferation GO:0008284 10 CDK4 EGFR KIT NRG1 PDGFRA S100B

Molecular functions related to Malignant Peripheral Nerve Sheath Tumor according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.91 EGFR S100A1 S100B SOX10 TP53 VIM
2 p53 binding GO:0002039 9.54 MUC1 SMARCB1 TP53
3 protein tyrosine kinase activity GO:0004713 9.46 EGFR KIT NRG1 PDGFRA
4 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.43 EGFR KIT PDGFRA
5 signal transducer, downstream of receptor, with protein tyrosine kinase activity GO:0004716 9.32 EGFR KIT
6 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.26 EGFR KIT NRG1 PDGFRA
7 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 8.92 EGFR KIT NRG1 PDGFRA
8 protein binding GO:0005515 10.33 CDK4 CDKN2A EGFR KIT MUC1 MXI1

Sources for Malignant Peripheral Nerve Sheath Tumor

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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