MCID: SBP004
MIFTS: 39

Subependymoma

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Subependymoma

MalaCards integrated aliases for Subependymoma:

Name: Subependymoma 20 58 54 17
Subependymal Glioma 70

Characteristics:

Orphanet epidemiological data:

58
subependymoma
Age of onset: Adult;

Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Subependymoma

GARD : 20 Subependymomas are slow-growing brain tumors that are usually benign. They are most often found in the fourth or lateral ventricles in the brain, but may occur in the spine. Symptoms depend on the tumor location. Some people do not have symptoms, while others may have headaches, changes in vision, and/or difficulty with balance. These symptoms are thought to be due to obstruction of cerebral spinal fluid (CSF) due to the tumor's location. Most subependymomas are benign with a low recurrence rate. However, a few progress to anaplastic ependymoma (a faster growing tumor). The cause of subependymomas is not well understood. Surgery to remove the tumor is often curative.

MalaCards based summary : Subependymoma, also known as subependymal glioma, is related to benign ependymoma and malignant astrocytoma, and has symptoms including headache, motor manifestations and sensory manifestations. An important gene associated with Subependymoma is TSC2 (TSC Complex Subunit 2), and among its related pathways/superpathways are Neuroscience and Spinal Cord Injury. Affiliated tissues include brain, spinal cord and liver, and related phenotypes are ependymoma and migraine

Wikipedia : 73 A subependymoma is a type of brain tumor; specifically, it is a rare form of ependymal tumor. They are... more...

Related Diseases for Subependymoma

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

(show top 50) (show all 317)
# Related Disease Score Top Affiliating Genes
1 benign ependymoma 30.4 TSC2 SYP GFAP
2 malignant astrocytoma 30.4 NES GFAP CHGA
3 cellular ependymoma 30.1 SYP NES NCAM1 GFAP
4 syringomyelia 30.0 GFAP AQP4
5 tanycytic ependymoma 29.8 SYP GFAP
6 hydrocephalus 29.6 SYP NES GFAP ENO2 AQP4 AQP1
7 clear cell ependymoma 29.6 SYP GFAP ENO2
8 obstructive hydrocephalus 29.5 SYP GFAP ENO2 AQP4 AQP1
9 hemangioblastoma 29.5 SYP GFAP ENO2
10 dysembryoplastic neuroepithelial tumor 29.4 SYP NES GFAP
11 pilocytic astrocytoma 29.4 SYP NES GFAP
12 central neurocytoma 29.3 SYP NES GFAP ENO2 CHGA
13 rhabdomyosarcoma 28.5 SYP NES NCAM1 GFAP ENO2 CHGA
14 subependymal giant cell astrocytoma 28.4 TSC2 SYP NES NCAM1 GFAP ENO2
15 subependymal glioma 11.0
16 glioma susceptibility 1 10.4
17 dysferlinopathy 10.3 AQP4 AQP1
18 central pontine myelinolysis 10.3 AQP4 AQP1
19 vaginal glandular tumor 10.3 ENO2 CHGA
20 gastric gastrinoma 10.3 ENO2 CHGA
21 nodular ganglioneuroblastoma 10.3 ENO2 CHGA
22 goblet cell carcinoid 10.3 ENO2 CHGA
23 ewing sarcoma of bone 10.3 ENO2 CHGA
24 appendix lymphoma 10.2 ENO2 CHGA
25 inappropriate adh syndrome 10.2 AQP4 AQP1
26 intracranial hypertension, idiopathic 10.2 AQP4 AQP1
27 intracranial cysts 10.2 GFAP ENO2
28 primitive neuroectodermal tumor of the cervix uteri 10.2 GFAP ENO2
29 liver leiomyosarcoma 10.2 ENO2 CHGA
30 parachordoma 10.2 GFAP CHGA
31 communicating hydrocephalus 10.2 AQP4 AQP1
32 hydrops, lactic acidosis, and sideroblastic anemia 10.2 AQP4 AQP1
33 solid adenocarcinoma with mucin production 10.2 NCAM1 CHGA
34 wernicke encephalopathy 10.2 GFAP AQP4
35 autoimmune disease of peripheral nervous system 10.2 AQP4 AQP1
36 intrahepatic bile duct adenoma 10.2 NCAM1 CHGA
37 lung oat cell carcinoma 10.2 ENO2 CHGA
38 central nervous system immature teratoma 10.2 NES GFAP
39 anaplastic ganglioglioma 10.2 NES GFAP
40 middle cerebral artery infarction 10.1 NCAM1 ENO2
41 somatostatinoma 10.1 ENO2 CHGA
42 primary hepatic neuroendocrine carcinoma 10.1 SYP CHGA
43 acinar cell cystadenocarcinoma 10.1 SYP CHGA
44 vulvar eccrine porocarcinoma 10.1 SYP CHGA
45 gastrointestinal neuroendocrine benign tumor 10.1 SYP CHGA
46 malignant melanocytic neoplasm of the peripheral nerve sheath 10.1 SYP ENO2
47 abducens nerve disease 10.1 SYP AQP4
48 vaginal tubulovillous adenoma 10.1 SYP CHGA
49 mature teratoma 10.1 SYP ENO2
50 mixed ductal-endocrine carcinoma 10.1 SYP CHGA

Graphical network of the top 20 diseases related to Subependymoma:



Diseases related to Subependymoma

Symptoms & Phenotypes for Subependymoma

Human phenotypes related to Subependymoma:

58 31 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ependymoma 58 31 obligate (100%) Obligate (100%) HP:0002888
2 migraine 58 31 frequent (33%) Frequent (79-30%) HP:0002076
3 pain 58 31 frequent (33%) Frequent (79-30%) HP:0012531
4 abnormal cell morphology 58 31 frequent (33%) Frequent (79-30%) HP:0025461
5 gait disturbance 58 31 occasional (7.5%) Occasional (29-5%) HP:0001288
6 vomiting 58 31 occasional (7.5%) Occasional (29-5%) HP:0002013
7 spinal cord tumor 58 31 occasional (7.5%) Occasional (29-5%) HP:0010302
8 distal muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0002460
9 dysesthesia 58 31 occasional (7.5%) Occasional (29-5%) HP:0012534
10 supratentorial neoplasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0030693
11 seizure 31 occasional (7.5%) HP:0001250
12 neoplasm of the lung 58 31 very rare (1%) Very rare (<4-1%) HP:0100526
13 ovarian neoplasm 58 31 very rare (1%) Very rare (<4-1%) HP:0100615
14 neoplasm of the liver 58 31 very rare (1%) Very rare (<4-1%) HP:0002896
15 neoplasm of the breast 58 31 very rare (1%) Very rare (<4-1%) HP:0100013
16 seizures 58 Occasional (29-5%)

UMLS symptoms related to Subependymoma:


headache; motor manifestations; sensory manifestations

MGI Mouse Phenotypes related to Subependymoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.23 AQP1 AQP4 CHGA ENO2 GFAP NCAM1

Drugs & Therapeutics for Subependymoma

Search Clinical Trials , NIH Clinical Center for Subependymoma

Genetic Tests for Subependymoma

Anatomical Context for Subependymoma

MalaCards organs/tissues related to Subependymoma:

40
Brain, Spinal Cord, Liver, Lung, Breast, Bone Marrow, Cortex

Publications for Subependymoma

Articles related to Subependymoma:

(show top 50) (show all 315)
# Title Authors PMID Year
1
Clinical, radiological, and pathological features in 43 cases of intracranial subependymoma. 20 61
25361493 2015
2
TERT promoter mutation and chromosome 6 loss define a high-risk subtype of ependymoma evolving from posterior fossa subependymoma. 61
33755803 2021
3
Iatrogenic Hypothalamus Injury After Resection of Subependymoma Within the Left Brain Ventricle. 61
33552798 2021
4
Intraventricular neuroepithelial tumors: surgical outcome, technical considerations and review of literature. 61
33143683 2020
5
Acute Hydrocephalus from Translocated Subependymoma. 61
33006653 2020
6
Different radioinducid tumors synchrony in an acute lymphoblastic leukemia survivor. 61
33012645 2020
7
Spinal cord subependymoma mimicking syringomyelia in a child: a case report. 61
33108520 2020
8
An atypical presentation of primary central nervous system lymphoma: A case report. 61
32957327 2020
9
cIMPACT-NOW update 7: advancing the molecular classification of ependymal tumors. 61
32502305 2020
10
A Rare Case of Postinfectious Moyamoya Syndrome: Case Report and Review of the Literature. 61
32434020 2020
11
A rare case of intraparenchymal subependymoma in a child. 61
32803310 2020
12
Spinal subependymoma surgery: do no harm. Little may be more! 61
31214945 2020
13
Microsurgical Resection of the IV Ventricle Subependymoma: 2-Dimensional Operative Video. 61
31811301 2020
14
Intramedullary Masses of the Spinal Cord: Radiologic-Pathologic Correlation. 61
32530746 2020
15
Short-term outcome following surgery for rare brain tumor entities in adults: a Swedish nation-wide registry-based study and comparison with SEER database. 61
32424575 2020
16
Subependymoma of the Conus Medullaris with Cystic Formation: Case Report and a Literature Review. 61
32081826 2020
17
Is This Truly A "Leave-Me-Alone" Lesion? An Unusual Case of Multiple Ring-shaped Lateral Ventricular Nodules. 61
31901494 2020
18
FROM ERECTILE DYSFUNCTION TO BRAIN SUBEPENDYMOMA: A CASE REPORT. 61
32724290 2020
19
Collision Glial Neoplasms Arising in an Ovarian Mature Cystic Teratoma: A Rare Event. 61
32082676 2020
20
Navigated Endoport in the Purely Endoscopic Microsurgery of Intraventricular and Other Deep-Seated Brain Lesions: A Case Report. 61
33543633 2020
21
Infiltrative subependymoma of the brainstem: an uncommon presentation. 61
32047339 2019
22
Apoplexy of a collision tumour composed of subependymoma and cavernous-like malformation in the lateral ventricle: a case report. 61
28992740 2019
23
Unusual Exophytic Appearance of Spinal Cord Subependymoma. 61
30954744 2019
24
A symptomatic large subependymoma with neuroradiological features mimicking a high-grade glioma: A case report. 61
30060993 2019
25
Pneumatosis Intestinalis After Molecular-Targeted Therapy. 61
30763745 2019
26
High frequency of H3 K27M mutations in adult midline gliomas. 61
30610375 2019
27
Subependymoma involving multiple spinal cord levels: A clinicopathological case series with chromosomal microarray analysis. 61
30856298 2019
28
Subependymoma and dysembryoplastic neuroepithelial collision tumor in the foramen of Monro: case report. 61
30901754 2019
29
Flexible Fiber CO2 Laser in Microsurgical Treatment of Intraventricular Tumors: Usefulness and Limitations. 61
30342263 2019
30
Detection of H3K27M mutation in cases of brain stem subependymoma. 61
30389438 2019
31
A Case of Rapidly-Progressing Cervical Spine Subependymoma with Atypical Features. 61
31435558 2019
32
Minimizing cortical disturbance to access ventricular subependymoma - A novel approach utilizing spinal minimally invasive tubular retractor system. 61
31528433 2019
33
A First Case Report of Subependymoma in PTPN11 Mutation-Associated Noonan Syndrome. 61
31637070 2019
34
Subpial Cervical Subependymoma: Report of an Unusual Tumor with Review of Literature. 61
30937068 2019
35
[Intramedullary spinal cord tumour as differential diagnosis to bilateral muscle weakness]. 61
30547876 2018
36
MRI of intracranial intraventricular lesions. 61
30138862 2018
37
DNA methylation-based classification of ependymomas in adulthood: implications for diagnosis and treatment. 61
30053291 2018
38
Subependymomas - Characteristics of a "Leave me Alone" Lesion. 61
29913520 2018
39
Cervical Spinal Ependymoma With Hemorrhage in a Renal Transplant Patient. 61
30251937 2018
40
Surgical management and long-term outcome of intracranial subependymoma. 61
29915887 2018
41
Heterogeneity within the PF-EPN-B ependymoma subgroup. 61
30019219 2018
42
Corrigendum to "Intratumoral Hemorrhage as an Unusual Manifestation of Intracranial Subependymoma" [World Neurosurg. (2018) 114:e647-e653]. 61
29887271 2018
43
Surgical outcomes of spinal cord and cauda equina ependymoma: Postoperative motor status and recurrence for each WHO grade in a multicenter study. 61
29610008 2018
44
Intratumoral Hemorrhage as an Unusual Manifestation of Intracranial Subependymoma. 61
29548959 2018
45
A Case of Intracranial Subependymoma: Histopathological Confirmation of Ring-shaped Lateral Ventricular Nodule. 61
28529248 2018
46
Recognizing intraventricular silicone. 61
29397464 2018
47
Spinal Cord Subependymoma Surgery : A Multi-Institutional Experience. 61
29526067 2018
48
Squash cytology findings of subependymomas: A report of three cases and differential diagnosis. 61
29024543 2018
49
Bilateral lateral ventricular subependymoma with extensive multiplicity presenting with hemorrhage. 61
28696174 2018
50
Unedited microneurosurgery of a pineal region ependymoma. 61
30687571 2018

Variations for Subependymoma

Expression for Subependymoma

Search GEO for disease gene expression data for Subependymoma.

Pathways for Subependymoma

Pathways related to Subependymoma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.79 SYP NCAM1 GFAP ENO2
2 11.41 GFAP AQP4 AQP1
3 10.82 SYP NES NCAM1 GFAP

GO Terms for Subependymoma

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

# Name GO ID Score Top Affiliating Genes
1 astrocyte end-foot GO:0097450 8.62 GFAP AQP4

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

# Name GO ID Score Top Affiliating Genes
1 renal water homeostasis GO:0003091 9.26 AQP4 AQP1
2 water transport GO:0006833 9.16 AQP4 AQP1
3 multicellular organismal water homeostasis GO:0050891 8.96 AQP4 AQP1
4 cellular water homeostasis GO:0009992 8.62 AQP4 AQP1

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

# Name GO ID Score Top Affiliating Genes
1 channel activity GO:0015267 8.96 AQP4 AQP1
2 water channel activity GO:0015250 8.62 AQP4 AQP1

Sources for Subependymoma

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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