MCID: MDL002
MIFTS: 39

Medulloepithelioma

Categories: Cancer diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Medulloepithelioma

MalaCards integrated aliases for Medulloepithelioma:

Name: Medulloepithelioma 12 15 70
Medulloepithelioma of the Central Nervous System 58
Medulloepithelioma, Central Nervous System 12
Diktyoma, Malignant 12

Characteristics:

Orphanet epidemiological data:

58
medulloepithelioma of the central nervous system
Inheritance: Not applicable; Age of onset: Childhood,Infancy;

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:4790
MeSH 44 D018242
NCIt 50 C4327
SNOMED-CT 67 715903004
UMLS via Orphanet 71 C0334596
Orphanet 58 ORPHA251883
UMLS 70 C0334596

Summaries for Medulloepithelioma

MalaCards based summary : Medulloepithelioma, also known as medulloepithelioma of the central nervous system, is related to retinal detachment and optic nerve glioma, and has symptoms including vomiting, headache and nausea. An important gene associated with Medulloepithelioma is SYP (Synaptophysin), and among its related pathways/superpathways are Cytoskeletal Signaling and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include eye, retina and ovary, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Wikipedia : 73 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 474)
# Related Disease Score Top Affiliating Genes
1 retinal detachment 30.1 IGF1 GFAP FGF2
2 optic nerve glioma 30.0 VIM NES MUC1 GFAP
3 pineoblastoma 29.8 SYP GFAP DICER1
4 cellular ependymoma 29.7 VIM SYP NES MUC1 GFAP
5 supratentorial primitive neuroectodermal tumor 29.4 SYP SMARCB1 GFAP DICER1
6 secretory meningioma 29.4 VIM SMARCB1 MUC1 KRT7
7 teratoma 29.3 SYP SMARCB1 NES KRT7 KRT20 GFAP
8 neuroblastoma 29.1 SYP NES IGF1 FGF2 DICER1
9 ependymoblastoma 29.0 VIM SYP SMARCB1 NES LIN28A GFAP
10 meningioma, familial 28.9 VIM SYP SMARCB1 MUC1 GFAP CALB2
11 medulloblastoma 28.7 VIM SYP SMARCB1 NES GFAP FGF2
12 rhabdomyosarcoma 27.9 VIM SYP SMARCB1 NES KRT7 IGF1
13 intraocular medulloepithelioma 11.3
14 papillary ependymoma 10.4 SYP GFAP
15 retinoblastoma 10.4
16 extraventricular neurocytoma 10.4 SYP GFAP
17 desmoplastic infantile ganglioglioma 10.4 SYP GFAP
18 central nervous system immature teratoma 10.4 NES GFAP
19 ovary neuroendocrine neoplasm 10.4 SYP KRT7
20 anaplastic ganglioglioma 10.4 NES GFAP
21 lung combined type small cell carcinoma 10.4 SYP GFAP
22 mucinous adenofibroma 10.4 SYP KRT7
23 auditory system benign neoplasm 10.4 SYP KRT7
24 cerebellopontine angle primitive neuroectodermal tumor 10.4 SYP GFAP
25 gallbladder small cell carcinoma 10.4 SYP KRT7
26 ureter small cell carcinoma 10.4 SYP KRT7
27 rectum neuroendocrine neoplasm 10.4 SYP KRT7
28 myoblastoma 10.4 SYP CALB2
29 papillary squamous carcinoma 10.4 SYP KRT7
30 sensory organ benign neoplasm 10.4 SYP KRT7
31 pineocytoma 10.4 SYP GFAP
32 chiari malformation 10.4 SYP GFAP
33 primary hepatic neuroendocrine carcinoma 10.4 VIM SYP
34 glomangiomyoma 10.4 VIM SYP
35 tanycytic ependymoma 10.4 SYP GFAP
36 urethral villous adenoma 10.4 KRT7 KRT20
37 ureteral benign neoplasm 10.4 SYP KRT7
38 spinal cord oligodendroglioma 10.4 SYP GFAP
39 bladder benign neoplasm 10.4 KRT7 KRT20
40 endobronchial leiomyoma 10.4 SYP GFAP
41 nephrogenic adenoma of urinary bladder 10.4 KRT7 KRT20
42 atrophic vulva 10.4 KRT7 KRT20
43 middle ear adenocarcinoma 10.4 KRT7 GFAP
44 cauda equina syndrome 10.4 SYP GFAP
45 vulva adenocarcinoma 10.4 KRT7 KRT20
46 female urethral cancer 10.4 KRT7 KRT20
47 cystitis cystica 10.3 KRT7 KRT20
48 cutaneous ganglioneuroma 10.3 SYP KRT20
49 mucinous ovarian cystadenoma 10.3 KRT7 KRT20
50 rectosigmoid junction neoplasm 10.3 KRT7 KRT20

Graphical network of the top 20 diseases related to Medulloepithelioma:



Diseases related to Medulloepithelioma

Symptoms & Phenotypes for Medulloepithelioma

UMLS symptoms related to Medulloepithelioma:


vomiting; headache; nausea

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

26 (show all 26)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-100 10.13 INA SMARCB1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-102 10.13 IGF1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 10.13 IGF1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-11 10.13 SMARCB1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-122 10.13 SMARCB1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-134 10.13 IGF1 VIM
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-137 10.13 INA
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-144 10.13 IGF1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-146 10.13 VIM
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 10.13 IGF1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-176 10.13 INA VIM
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-190 10.13 VIM
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 10.13 IGF1
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-21 10.13 IGF1
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 10.13 INA
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-212 10.13 VIM
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 10.13 IGF1
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-22 10.13 INA
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-29 10.13 VIM
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-30 10.13 VIM
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 10.13 IGF1 SMARCB1
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-83 10.13 SMARCB1
23 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 10.13 IGF1
24 Decreased shRNA abundance (Z-score < -2) GR00366-A-85 10.13 SMARCB1 VIM
25 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 10.13 VIM
26 Reduced mammosphere formation GR00396-S 9.1 DES DICER1 IGF1 KRT7 SMARCB1 VIM

MGI Mouse Phenotypes related to Medulloepithelioma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.76 DES DICER1 FGF2 GFAP IGF1 LIN28A
2 nervous system MP:0003631 9.65 CALB2 DICER1 FGF2 GFAP IGF1 INA
3 normal MP:0002873 9.23 CALB2 DICER1 GFAP IGF1 INA LIN28A

Drugs & Therapeutics for Medulloepithelioma

Search Clinical Trials , NIH Clinical Center for Medulloepithelioma

Genetic Tests for Medulloepithelioma

Anatomical Context for Medulloepithelioma

MalaCards organs/tissues related to Medulloepithelioma:

40
Eye, Retina, Ovary, Brain, Spinal Cord, Kidney, Pons

Publications for Medulloepithelioma

Articles related to Medulloepithelioma:

(show top 50) (show all 341)
# Title Authors PMID Year
1
Presacral medulloepithelioma with peritoneal carcinomatosis in an 11-year-old boy: An extremely rare association. 61
33747332 2021
2
C19MC amplification and expression of Lin28A and Olig2 in the classification of embryonal tumors of the central nervous system: A 14-year retrospective study from a tertiary care center. 61
33236184 2021
3
Epizootic neoplasia in a managed population of Atlantic bumper fish, Chloroscombrus chrysurus (Osteichthyes: Carangidae), at a public aquarium. 61
33348452 2021
4
Embryonal tumors with multilayered rosettes: A tertiary care centre experience. 61
33556852 2021
5
Ocular teratoid medulloepithelioma in a northern red-shouldered macaw: case report and literature review. 61
33568016 2021
6
Eye-sparing Treatment of Localized Orbital Medulloepithelioma With Neoadjuvant Chemoradiation. 61
32427730 2021
7
DICER1-associated metastatic abdominopelvic primitive neuroectodermal tumor with an EWSR1 rearrangement in a 16-yr-old female. 61
33028642 2020
8
Usefulness of PAX8 Immunohistochemistry in Adult Intraocular Tumor Diagnosis. 61
33002562 2020
9
Long-Term Clinical Results and Management following Vitrectomy in Undetected Retinoblastoma Eyes. 61
33005613 2020
10
Glaucoma as the presenting sign of intraocular tumors: beware of the masquerading sign. 61
32198607 2020
11
Plaque radiation for ciliary body medulloepithelioma presenting with neovascular glaucoma and vitreous hemorrhage in 13-year-old Asian girl. 61
32373758 2020
12
Successful treatment of ciliary body medulloepithelioma with intraocular melphalan chemotherapy: a case report. 61
32552699 2020
13
Presacral Medulloepithelioma: Case Report and Literature Review. 61
30994507 2020
14
An update on the central nervous system manifestations of DICER1 syndrome. 61
30953130 2020
15
High-grade neuroepithelial tumor with medulloepithelioma-like areas out of the central nervous system in an infant with hemihypertrophy: a unique association. 61
33108088 2020
16
Peripheral Medulloepithelioma: A Rare Entity to Know. 61
32685223 2020
17
Imaging of DICER1 syndrome. 61
31620849 2019
18
Ocular non-teratoid medulloepithelioma with teratoid metastases in ipsilateral intraparotid lymph nodes. 61
31411051 2019
19
Prenatal Presentation of Medulloepithelioma: Case and Literature Review. 61
31285981 2019
20
Medulloepithelioma with heterologous osteoid component: a case report and review of literature. 61
30617578 2019
21
Intraocular medulloepithelioma - A review of clinical features, DICER 1 mutation, and management. 61
31124483 2019
22
Clinicopathologic Features and Chromosome 12p Status of Pediatric Sacrococcygeal Teratomas: A Multi-institutional Analysis. 61
30176765 2019
23
An Eight-Year-Old Girl Presents With Two Weeks of Vision Loss and Nightly Headaches. 61
31100163 2019
24
Glaucoma secondary to intraocular tumors: mechanisms and management. 61
30562240 2019
25
Curious case of retrolental mass: An unusual tele-screening artifact. 61
30777974 2019
26
DICER1 Syndrome: Characterization of the Ocular Phenotype in a Family-Based Cohort Study. 61
30339877 2019
27
Radiation for ETMR: Literature review and case series of patients treated with proton therapy. 61
30582019 2019
28
Intracranial Medulloepithelioma in a Child: A Case Report. 61
29757453 2019
29
Plaque Radiotherapy for Medulloepithelioma in 6 Cases From a Single Center. 61
30375203 2019
30
Intraocular medulloepithelioma in children: clinicopathologic features itself hardly differentiate it from retinoblastoma. 61
31341819 2019
31
DICER1 Syndrome. 61
31409088 2019
32
Embryonal tumor with multilayered rosettes, C19MC-altered (ETMR): a newly defined pediatric brain tumor. 61
31934159 2019
33
Conventional, diffusion, and permeability MR findings in ocular medulloepithelioma. 61
30232518 2018
34
Successful treatment of metastatic congenital intraocular medulloepithelioma with neoadjuvant chemotherapy, enucleation and superficial parotidectomy. 61
30128367 2018
35
A clinical case of Zellweger syndrome in a patient with a previous history of ocular medulloepithelioma. 61
30224891 2018
36
Mice Expressing Myc in Neural Precursors Develop Choroid Plexus and Ciliary Body Tumors. 61
29545198 2018
37
DICER1 and Associated Conditions: Identification of At-risk Individuals and Recommended Surveillance Strategies. 61
29343557 2018
38
Multiple DICER1-related tumors in a child with a large interstitial 14q32 deletion. 61
29315962 2018
39
Infantile medulloepithelioma in the lateral ventricle and cerebellopontine angle: Two case reports. 61
29768355 2018
40
Combined morphological, immunohistochemical and genetic analyses of medulloepithelioma in the posterior cranial fossa. 61
28971535 2018
41
Early Neuroblastic and Astrocytic Differentiation Demonstrated Immunohistochemically in a Small Intraocular Medulloepithelioma. 61
29765950 2018
42
Intraocular Medulloepithelioma: AIRP Best Cases in Radiologic-Pathologic Correlation. 61
29320332 2018
43
Clinical behavior of intraocular teratoid medulloepithelioma in two-related Quarter Horses. 61
27440405 2017
44
LIN28A, a sensitive immunohistochemical marker for Embryonal Tumor with Multilayered Rosettes (ETMR), is also positive in a subset of Atypical Teratoid/Rhabdoid Tumor (AT/RT). 61
28744687 2017
45
Pigmented ciliary body medulloepithelioma in a newborn infant. 61
29118511 2017
46
Embryonal rhabdomyosarcoma in a patient with a heterozygous frameshift variant in the DICER1 gene and additional manifestations of the DICER1 syndrome. 61
27896549 2017
47
Embryonal tumors in Canadian children less than 36 months of age: results from the Canadian Pediatric Brain Tumor Consortium (CPBTC). 61
28508928 2017
48
Adult ocular medulloepithelioma diagnosed by transscleral fine needle aspiration: A case report. 61
28217870 2017
49
Intra-ocular medulloepithelioma as a masquerade for PHPV and Panophthalmitis: a Diagnostic Dilemma. 61
28559724 2017
50
Malignant Ciliary Body Medulloepithelioma With Brain and Parotid Metastasis. 61
28453163 2017

Variations for Medulloepithelioma

Expression for Medulloepithelioma

Search GEO for disease gene expression data for Medulloepithelioma.

Pathways for Medulloepithelioma

GO Terms for Medulloepithelioma

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

# Name GO ID Score Top Affiliating Genes
1 intermediate filament cytoskeleton GO:0045111 9.26 VIM NES GFAP DES
2 intermediate filament GO:0005882 9.17 VIM NES KRT7 KRT20 INA GFAP

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

# Name GO ID Score Top Affiliating Genes
1 astrocyte development GO:0014002 9.43 VIM GFAP
2 miRNA metabolic process GO:0010586 9.4 LIN28A DICER1
3 pre-miRNA processing GO:0031054 9.37 LIN28A DICER1
4 stem cell proliferation GO:0072089 9.32 NES FGF2
5 Bergmann glial cell differentiation GO:0060020 9.26 VIM GFAP
6 positive regulation of histone H4 acetylation GO:0090240 9.16 SMARCB1 MUC1
7 intermediate filament-based process GO:0045103 8.96 VIM GFAP
8 intermediate filament organization GO:0045109 8.92 VIM KRT20 GFAP DES

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

# Name GO ID Score Top Affiliating Genes
1 structural constituent of cytoskeleton GO:0005200 9.02 VIM KRT20 INA GFAP DES

Sources for Medulloepithelioma

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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