MCID: MDL002
MIFTS: 46

Medulloepithelioma

Categories: Neuronal diseases, Rare diseases, Cancer diseases

Aliases & Classifications for Medulloepithelioma

MalaCards integrated aliases for Medulloepithelioma:

Name: Medulloepithelioma 12 14 69
Medulloepithelioma of the Central Nervous System 55
Medulloepithelioma, Central Nervous System 12
Medulloepithelioma Nos 12
Diktyoma, Malignant 12

Characteristics:

Orphanet epidemiological data:

55
medulloepithelioma of the central nervous system
Inheritance: Not applicable; Age of onset: Childhood,Infancy;

Classifications:

Orphanet: 55  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:4790
MeSH 41 D018242
NCIt 46 C4327 C66808
SNOMED-CT 64 189932005 39005004
Orphanet 55 ORPHA251883
UMLS via Orphanet 70 C0334596
UMLS 69 C0334596

Summaries for Medulloepithelioma

MalaCards based summary : Medulloepithelioma, also known as medulloepithelioma of the central nervous system, is related to pineoblastoma and ependymoblastoma, and has symptoms including vomiting, nausea and headache. An important gene associated with Medulloepithelioma is SYP (Synaptophysin), and among its related pathways/superpathways are Cytoskeletal Signaling and Neural Stem Cell Differentiation Pathways and Lineage-specific Markers. The drugs Dexamethasone and Cisplatin have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and spinal cord.

Wikipedia : 72 Medulloepithelioma is a rare, primitive, fast-growing brain tumour thought to stem from cells of the... more...

Related Diseases for Medulloepithelioma

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

(show top 50) (show all 252)
# Related Disease Score Top Affiliating Genes
1 pineoblastoma 30.1 GFAP SYP
2 ependymoblastoma 29.6 GFAP NES VIM
3 ependymoma 29.2 GFAP NES SYP VIM
4 intraocular medulloepithelioma 12.2
5 desmoplastic infantile ganglioglioma 10.4 GFAP SYP
6 extraventricular neurocytoma 10.4 GFAP SYP
7 lung combined type small cell carcinoma 10.4 GFAP SYP
8 cellular ependymoma 10.4 GFAP SYP
9 gangliocytoma 10.4 GFAP SYP
10 pilomyxoid astrocytoma 10.4 GFAP SYP
11 subependymal glioma 10.4 GFAP SYP
12 chiari malformation 10.4 GFAP SYP
13 cerebral neuroblastoma 10.4 GFAP SYP
14 benign ependymoma 10.4 GFAP SYP
15 central nervous system teratoma 10.4 GFAP NES
16 anaplastic ganglioglioma 10.4 GFAP NES
17 cerebral ventricle cancer 10.4 GFAP SYP
18 cerebrum cancer 10.4 GFAP SYP
19 pineal gland cancer 10.4 GFAP SYP
20 obstructive hydrocephalus 10.4 GFAP SYP
21 supratentorial cancer 10.4 GFAP SYP
22 central nervous system germ cell tumor 10.4 GFAP NES
23 pineocytoma 10.4 GFAP SYP
24 pleomorphic xanthoastrocytoma 10.3 GFAP SYP
25 childhood oligodendroglioma 10.3 GFAP SYP
26 optic nerve neoplasm 10.3 NES SYP
27 papilloma of choroid plexus 10.3 GFAP SYP
28 primary hepatic neuroendocrine carcinoma 10.3 SYP VIM
29 papillary tumor of the pineal region 10.3 SYP VIM
30 binswanger's disease 10.3 GFAP SYP
31 large cell medulloblastoma 10.3 SYP VIM
32 atypical teratoid rhabdoid tumor 10.3 GFAP SYP
33 cerebellopontine angle tumor 10.3 GFAP SYP
34 cerebellar liponeurocytoma 10.3 GFAP SYP
35 brain ischemia 10.3 GFAP NES
36 perivascular epithelioid cell tumor 10.3 SYP VIM
37 pancreatic gastrinoma 10.3 GFAP SYP
38 sertoli cell tumor 10.3 SYP VIM
39 extraskeletal ewing sarcoma 10.3 SYP VIM
40 glomus tumor 10.3 SYP VIM
41 primitive neuroectodermal tumor of the cervix uteri 10.3 GFAP VIM
42 cutaneous leiomyosarcoma 10.3 GFAP VIM
43 odontoma 10.3 NES VIM
44 adult medulloblastoma 10.3 GFAP SYP
45 clear cell meningioma 10.3 GFAP VIM
46 adenoma of the pancreas 10.3 KRT20 SYP
47 syringocystadenoma papilliferum 10.3 GFAP VIM
48 cerebral primitive neuroectodermal tumor 10.3 SYP VIM
49 myxopapillary ependymoma 10.3 GFAP VIM
50 syringoma 10.3 GFAP VIM

Graphical network of the top 20 diseases related to Medulloepithelioma:



Diseases related to Medulloepithelioma

Symptoms & Phenotypes for Medulloepithelioma

UMLS symptoms related to Medulloepithelioma:


vomiting, nausea, headache

Drugs & Therapeutics for Medulloepithelioma

Drugs for Medulloepithelioma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 74)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexamethasone Approved, Investigational, Vet_approved Phase 3,Phase 1 50-02-2 5743
2
Cisplatin Approved Phase 3 15663-27-1 2767 441203 84093
3
Ondansetron Approved Phase 3 99614-02-5 4595
4
Granisetron Approved, Investigational Phase 3 109889-09-0 3510
5 Dexamethasone acetate Phase 3,Phase 1 1177-87-3
6 Gastrointestinal Agents Phase 3,Phase 1
7 Peripheral Nervous System Agents Phase 3,Phase 1
8 Emetics Phase 3
9 Antiemetics Phase 3,Phase 1
10 BB 1101 Phase 3,Phase 1
11 Autonomic Agents Phase 3,Phase 1
12
Mannitol Approved, Investigational Phase 1, Phase 2 69-65-8 6251 453
13
Melphalan Approved Phase 1, Phase 2 148-82-3 460612 4053
14
Carboplatin Approved Phase 1, Phase 2 41575-94-4 10339178 38904 498142
15
Ifosfamide Approved Phase 1, Phase 2 3778-73-2 3690
16
Mechlorethamine Approved, Investigational Phase 1, Phase 2 51-75-2 4033
17
Etoposide Approved Phase 1, Phase 2 33419-42-0 36462
18
Dasatinib Approved, Investigational Phase 1, Phase 2 302962-49-8 3062316
19
Crizotinib Approved Phase 1, Phase 2 877399-52-5 11626560 10366136 10366137 10366138 10366139 10366140 10366141
20 Alkylating Agents Phase 1, Phase 2
21 Anti-Bacterial Agents Phase 1, Phase 2
22 Anti-Infective Agents Phase 1, Phase 2
23 Immunosuppressive Agents Phase 1, Phase 2
24 sodium thiosulfate Phase 1, Phase 2
25 Isophosphamide mustard Phase 1, Phase 2 0
26 diuretics Phase 1, Phase 2
27 Chelating Agents Phase 1, Phase 2
28 Natriuretic Agents Phase 1, Phase 2
29 Nitrogen Mustard Compounds Phase 1, Phase 2
30 Antidotes Phase 1, Phase 2
31 Protective Agents Phase 1, Phase 2
32 Protein Kinase Inhibitors Phase 1, Phase 2
33 Antioxidants Phase 1, Phase 2
34 Antitubercular Agents Phase 1, Phase 2
35 Topoisomerase Inhibitors Phase 1, Phase 2
36 Etoposide phosphate Phase 1, Phase 2
37 Liver Extracts Phase 1, Phase 2
38 Antineoplastic Agents, Phytogenic Phase 1, Phase 2
39 alanine Nutraceutical Phase 1, Phase 2
40 phenylalanine Nutraceutical Phase 1, Phase 2
41
Bortezomib Approved, Investigational Phase 1 179324-69-7 387447 93860
42
Dacarbazine Approved, Investigational Phase 1 4342-03-4 5351166
43
Temozolomide Approved, Investigational Phase 1 85622-93-1 5394
44
Lenograstim Approved, Investigational Phase 1 135968-09-1
45
Lenalidomide Approved Phase 1 191732-72-6 216326
46
Vorinostat Approved, Investigational Phase 1 149647-78-9 5311
47
Piperazine Approved, Vet_approved Phase 1 110-85-0 4837
48
Mebendazole Approved, Vet_approved Phase 1 31431-39-7 4030
49
Palbociclib Approved, Investigational Phase 1 571190-30-2 5330286 11431660 5005498
50
Veliparib Investigational Phase 1 912444-00-9 11960529

Interventional clinical trials:

(show all 21)

# Name Status NCT ID Phase Drugs
1 Acupressure in Controlling Nausea in Young Patients Receiving Highly Emetogenic Chemotherapy Completed NCT01346267 Phase 3
2 Antineoplaston Therapy in Treating Children With Brain Tumors Completed NCT00003458 Phase 2 Antineoplaston therapy (Atengenal + Astugenal)
3 Melphalan, Carboplatin, Mannitol, and Sodium Thiosulfate in Treating Patients With Recurrent or Progressive CNS Embryonal or Germ Cell Tumors Recruiting NCT00983398 Phase 1, Phase 2 Carboplatin;Mannitol;Melphalan;Sodium Thiosulfate
4 Crizotinib in Treating Young Patients With Relapsed or Refractory Solid Tumors or Anaplastic Large Cell Lymphoma Active, not recruiting NCT00939770 Phase 1, Phase 2 crizotinib
5 Dasatinib, Ifosfamide, Carboplatin, and Etoposide in Treating Young Patients With Metastatic or Recurrent Malignant Solid Tumors Active, not recruiting NCT00788125 Phase 1, Phase 2 carboplatin;dasatinib;etoposide phosphate;ifosfamide
6 Vorinostat and Temozolomide in Treating Young Patients With Relapsed or Refractory Primary Brain Tumors or Spinal Cord Tumors Completed NCT01076530 Phase 1 vorinostat;temozolomide
7 Vorinostat and Bortezomib in Treating Young Patients With Refractory or Recurrent Solid Tumors, Including Central Nervous System Tumors and Lymphoma Completed NCT00994500 Phase 1 vorinostat;bortezomib
8 ABT-888 and Temozolomide in Treating Young Patients With Recurrent or Refractory CNS Tumors Completed NCT00946335 Phase 1 veliparib;temozolomide
9 Lenalidomide in Treating Young Patients With Recurrent, Progressive, or Refractory CNS Tumors Completed NCT00100880 Phase 1 lenalidomide
10 Cilengitide in Treating Children With Refractory Primary Brain Tumors Completed NCT00063973 Phase 1 cilengitide
11 Temozolomide and O6-Benzylguanine in Treating Children With Recurrent Brain Tumors Completed NCT00052780 Phase 1 O6-benzylguanine;temozolomide
12 PTC299 in Treating Young Patients With Refractory or Recurrent Primary Central Nervous System Tumors Completed NCT01158300 Phase 1 VEGF inhibitor PTC299
13 Molecularly-Driven Doublet Therapy for Recurrent CNS Malignant Neoplasms Recruiting NCT03434262 Phase 1 Gemcitabine;ribociclib;sonidegib;trametinib
14 Palbociclib Isethionate in Treating Younger Patients With Recurrent, Progressive, or Refractory Central Nervous System Tumors Recruiting NCT02255461 Phase 1 palbociclib isethionate
15 Gamma-Secretase Inhibitor RO4929097 in Treating Young Patients With Relapsed or Refractory Solid Tumors, CNS Tumors, Lymphoma, or T-Cell Leukemia Terminated NCT01088763 Phase 1 gamma-secretase/Notch signalling pathway inhibitor RO4929097;dexamethasone
16 Decision Making About Participating in Pharmacokinetic Studies in Patients Enrolled in a Phase I Treatment Clinical Trial Completed NCT00890435
17 DICER1-related Pleuropulmonary Blastoma Cancer Predisposition Syndrome: A Natural History Study Recruiting NCT01247597
18 Elucidating the Genetic Basis of the Pleuropulmonary Blastoma (PPB) Familial Cancer Syndrome Recruiting NCT00565903
19 International PPB Registry for PPB, DICER1 and Associated Conditions Recruiting NCT03382158
20 Efficacy of 68Ga-DOTATOC Positron Emission Tomography (PET) CT in Children and Young Adults With Brain Tumors Withdrawn NCT02194452
21 Biomarkers in Blood Samples From Young Patients With Newly Diagnosed Brain Tumors Undergoing Standard Radiation Therapy and Chemotherapy Withdrawn NCT01233479 systemic chemotherapy

Search NIH Clinical Center for Medulloepithelioma

Genetic Tests for Medulloepithelioma

Anatomical Context for Medulloepithelioma

MalaCards organs/tissues related to Medulloepithelioma:

38
Brain, Eye, Spinal Cord, Liver, T Cells, Retina, Pons

Publications for Medulloepithelioma

Articles related to Medulloepithelioma:

(show top 50) (show all 172)
# Title Authors Year
1
Intraocular Medulloepithelioma: AIRP Best Cases in Radiologic-Pathologic Correlation. ( 29320332 )
2018
2
Malignant Ciliary Body Medulloepithelioma With Brain and Parotid Metastasis. ( 28453163 )
2017
3
Intra-ocular medulloepithelioma as a masquerade for PHPV and Panophthalmitis: a Diagnostic Dilemma. ( 28559724 )
2017
4
Pigmented ciliary body medulloepithelioma in a newborn infant. ( 29118511 )
2017
5
Posterior cerebral fossa medulloepithelioma: report of a case. ( 29200961 )
2017
6
Adult ocular medulloepithelioma diagnosed by transscleral fine needle aspiration: A case report. ( 28217870 )
2017
7
Combined morphological, immunohistochemical and genetic analyses of medulloepithelioma in the posterior cranial fossa. ( 28971535 )
2017
8
Clinical behavior of intraocular teratoid medulloepithelioma in two-related Quarter Horses. ( 27440405 )
2016
9
Intraocular Teratoid Medulloepithelioma Presenting With a Completely Rhabdomyosarcomatous Distant Metastasis. ( 27254319 )
2016
10
Recurrent lacrimal gland choristoma of the ciliary body in an infant mimicking a medulloepithelioma. ( 27173894 )
2016
11
Nonteratoid Medulloepithelioma Presenting in a 78-Year-Old Male. ( 27843898 )
2016
12
Orbital medulloepithelioma in an adult patient: Radiation-induced second neoplasia? ( 27715363 )
2016
13
On the Classification and Grading of Medulloepithelioma of the Eye. ( 27239464 )
2016
14
The Targetable Epigenetic Tumor Protein EZH2 is Enriched in Intraocular Medulloepithelioma. ( 27842164 )
2016
15
Somatic mutations of DICER1 and KMT2D are frequent in intraocular medulloepitheliomas. ( 26841698 )
2016
16
Intraocular Medulloepitheliomas and Embryonal Tumors With Multilayered Rosettes of the Brain: Comparative Roles of LIN28A and C19MC. ( 25748578 )
2015
17
Medulloepithelioma with peculiar clinical presentation, stem cell phenotype and aberrant DNA-methylation profile. ( 26118758 )
2015
18
Ruthenium-106 Plaque Brachytherapy in the Primary Management of Ocular Medulloepithelioma. ( 25863421 )
2015
19
Somatic DICER1 gene mutation in sporadic intraocular medulloepithelioma without pleuropulmonary blastoma syndrome. ( 25791583 )
2015
20
An Infant With Medulloepithelioma Successfully Treated by High-dose Chemotherapy Followed by Autologous Peripheral Blood Stem Cell Transplantation Without Radiotherapy. ( 26181425 )
2015
21
Peripheral medulloepithelioma: a rare tumor with a potential target therapy. ( 24559248 )
2014
22
Ciliary body medulloepithelioma association with pleuropulmonary blastoma in a familial tumor predisposition syndrome. ( 25032694 )
2014
23
Unusual occurrence of supratentorial medulloepithelioma in a young female. ( 25002766 )
2014
24
Neovascular glaucoma in a child: an unusual presentation of medulloepithelioma. ( 27625938 )
2014
25
Pigmented malignant teratoid medulloepithelioma of ciliary body - An extremely rare intraocular tumor in adult. ( 25278807 )
2014
26
New Insights Into the Development of Infantile Intraocular Medulloepithelioma. ( 25174896 )
2014
27
Medulloepithelioma: A triad of clinical features. ( 25136238 )
2014
28
Ciliary body medulloepithelioma associated with pleuropulmonary blastoma. ( 23613510 )
2013
29
Malignant teratoid medulloepithelioma with retinoblastic and rhabdomyoblastic differentiation. ( 23791415 )
2013
30
Embryonal tumor with abundant neuropil and true rosettes (ETANTR), ependymoblastoma, and medulloepithelioma share molecular similarity and comprise a single clinicopathological entity. ( 24337497 )
2013
31
Ciliary body medulloepithelioma: analysis of 41 cases. ( 23796765 )
2013
32
Primitive neuroectodermal tumour in a striped dolphin (Stenella coeruleoalba) with features of ependymoma and neural tube differentiation (Medulloepithelioma). ( 24011906 )
2013
33
Ciliary body medulloepithelioma in an adult. ( 23218809 )
2013
34
Imaging features of medulloepithelioma: report of four cases and review of the literature. ( 23989751 )
2013
35
Medulloepithelioma in DICER1 syndrome treated with resection. ( 23640610 )
2013
36
Malignant teratoid ciliary body medulloepithelioma in a neonate. ( 24261320 )
2013
37
Benign intraocular teratoid medulloepithelioma causing glaucoma in an 11-year-old Arabian mare. ( 23025750 )
2013
38
Intraocular medulloepithelioma. ( 22288972 )
2012
39
The masquerades of a childhood ciliary body medulloepithelioma: a case of chronic uveitis, cataract, and secondary glaucoma. ( 22606494 )
2012
40
Infratentorial medulloepithelioma with divergent differentiation: Possibly a predictor of poor outcome. ( 23248698 )
2012
41
Ciliary body medulloepithelioma in a 10-year-old boy. ( 22776925 )
2012
42
Dilemma in management of ocular medulloepithelioma in a child. ( 22340579 )
2012
43
Atypical clinical presentation and long-term survival in a patient with optic nerve medulloepithelioma: a case report. ( 22571440 )
2012
44
Medulloepithelioma of the optic disc. ( 21676432 )
2011
45
Chemosensitivity of medulloepithelioma. ( 21724057 )
2011
46
Fine needle aspiration cytology of metastatic ocular medulloepithelioma. ( 21062379 )
2011
47
Curative treatment for central nervous system medulloepithelioma despite residual disease after resection. Report of two cases treated according to the GPHO Protocol HIT 2000 and review of the literature. ( 22037651 )
2011
48
Ciliary body medulloepithelioma with neoplastic cyclitic membrane imaging with fluorescein angiography and ultrasound biomicroscopy. ( 21505878 )
2011
49
Ciliary body medulloepithelioma: four cases associated with pleuropulmonary blastoma--a report from the International Pleuropulmonary Blastoma Registry. ( 21156700 )
2011
50
Medulloepithelioma of the ciliary body: the delay in diagnosis and frequent initial mismanagement. ( 21995988 )
2011

Variations for Medulloepithelioma

Expression for Medulloepithelioma

Search GEO for disease gene expression data for Medulloepithelioma.

Pathways for Medulloepithelioma

Pathways related to Medulloepithelioma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.82 KRT20 KRT7 VIM
2 11.15 GFAP NES SYP VIM
3
Show member pathways
11.05 GFAP INA KRT7 NES VIM

GO Terms for Medulloepithelioma

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

# Name GO ID Score Top Affiliating Genes
1 neurofilament GO:0005883 9.16 GFAP INA
2 intermediate filament cytoskeleton GO:0045111 9.13 GFAP INA NES
3 intermediate filament GO:0005882 9.1 GFAP INA KRT20 KRT7 NES VIM

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of neuron projection development GO:0010977 9.32 GFAP VIM
2 astrocyte development GO:0014002 9.26 GFAP VIM
3 Bergmann glial cell differentiation GO:0060020 9.16 GFAP VIM
4 intermediate filament-based process GO:0045103 8.96 GFAP VIM
5 intermediate filament organization GO:0045109 8.8 GFAP KRT20 VIM

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

# Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 9.26 GFAP KRT7 NES VIM
2 structural constituent of cytoskeleton GO:0005200 8.92 GFAP INA KRT20 VIM

Sources for Medulloepithelioma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
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29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
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41 MeSH
42 MESH via Orphanet
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58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
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70 UMLS via Orphanet
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