MCID: PLC004
MIFTS: 36

Pilocytic Astrocytoma of Cerebellum

Categories: Cancer diseases, Neuronal diseases

Aliases & Classifications for Pilocytic Astrocytoma of Cerebellum

MalaCards integrated aliases for Pilocytic Astrocytoma of Cerebellum:

Name: Pilocytic Astrocytoma of Cerebellum 12 15 72
Cerebellar Pilocytic Astrocytoma 12

Classifications:



External Ids:

Disease Ontology 12 DOID:4853
NCIt 50 C6809
UMLS 72 C0349620

Summaries for Pilocytic Astrocytoma of Cerebellum

MalaCards based summary : Pilocytic Astrocytoma of Cerebellum, also known as cerebellar pilocytic astrocytoma, is related to cerebellar astrocytoma and pilocytic astrocytoma, and has symptoms including nausea and vomiting and headache. An important gene associated with Pilocytic Astrocytoma of Cerebellum is PNKP (Polynucleotide Kinase 3'-Phosphatase), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. Affiliated tissues include cerebellum, brain and tongue, and related phenotypes are Decreased cell migration and Decreased viability in esophageal squamous lineage

Related Diseases for Pilocytic Astrocytoma of Cerebellum

Diseases related to Pilocytic Astrocytoma of Cerebellum via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 61)
# Related Disease Score Top Affiliating Genes
1 cerebellar astrocytoma 30.8 PNKP MARK3 KIAA1549 IDH1
2 pilocytic astrocytoma 30.6 NF1 KIAA1549 IDH1 BRAF
3 glioblastoma 29.2 NF1 MAPK3 IDH2 IDH1 BRAF
4 enchondroma 10.5 IDH2 IDH1
5 interval angle-closure glaucoma 10.5 IDH2 IDH1
6 intracranial chondrosarcoma 10.5 IDH2 IDH1
7 cytogenetically normal acute myeloid leukemia 10.4 IDH2 IDH1
8 chondroblastic osteosarcoma 10.4 IDH2 IDH1
9 neurofibromatosis, type iv, of riccardi 10.4
10 fibrillary astrocytoma 10.3 KIAA1549 IDH2 IDH1
11 adult oligodendroglioma 10.3 NF1 IDH2 IDH1
12 papillary tumor of the pineal region 10.3 VIM BRAF
13 astrocytoma 10.3
14 hydrocephalus 10.3
15 ganglioglioma 10.3
16 intracranial hypertension 10.3
17 congenital hydrocephalus 10.3
18 head injury 10.3
19 low-grade astrocytoma 10.3
20 rhabdoid meningioma 10.3 VIM BRAF
21 pilomyxoid astrocytoma 10.3 NF1 KIAA1549 BRAF
22 cerebellum cancer 10.2 SHH PNKP
23 brain stem glioma 10.2 IDH2 IDH1 BRAF
24 refractory hairy cell leukemia 10.2 MAP2K7 BRAF
25 multiple enchondromatosis, maffucci type 10.2 IDH2 IDH1 GNAS
26 acral lentiginous melanoma 10.2 VIM BRAF
27 glioblastoma multiforme 10.1
28 48,xyyy 10.1
29 intraductal papilloma 10.1 IDH2 IDH1
30 urachal adenocarcinoma 10.1 NF1 GNAS BRAF
31 pseudohypoparathyroidism, type ia 10.1
32 neurofibromatosis, type i 10.1
33 thyroid cancer, nonmedullary, 1 10.1
34 autism 10.1
35 ataxia and polyneuropathy, adult-onset 10.1
36 autism spectrum disorder 10.1
37 retinal microaneurysm 10.1
38 hemosiderosis 10.1
39 thrombocytopenia 10.1
40 thyroid gland papillary carcinoma 10.1
41 pseudohypoparathyroidism 10.1
42 mutism 10.1
43 pleomorphic xanthoastrocytoma 10.1
44 juvenile pilocytic astrocytoma 10.1
45 meningitis 10.1
46 pseudohypoparathyroidism with albright hereditary osteodystrophy 10.1
47 pituitary tumors 10.1
48 tremor 10.1
49 glial tumor 10.1
50 rare tumor 10.1

Graphical network of the top 20 diseases related to Pilocytic Astrocytoma of Cerebellum:



Diseases related to Pilocytic Astrocytoma of Cerebellum

Symptoms & Phenotypes for Pilocytic Astrocytoma of Cerebellum

UMLS symptoms related to Pilocytic Astrocytoma of Cerebellum:


nausea and vomiting, headache

GenomeRNAi Phenotypes related to Pilocytic Astrocytoma of Cerebellum according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased cell migration GR00055-A-1 9.63 BRAF CRK MAPK3 MARK3 NF1 VIM
2 Decreased viability in esophageal squamous lineage GR00235-A 9.61 BRAF CRK GNAS IDH1 IDH2 IQGAP1
3 Increased cell migration GR00055-A-3 8.92 BRAF MAPK3 MARK3 NF1

MGI Mouse Phenotypes related to Pilocytic Astrocytoma of Cerebellum:

46 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.37 BRAF CRK GNAS ICAM1 IDH1 IQGAP1
2 cardiovascular system MP:0005385 10.31 BRAF CRK GNAS ICAM1 IDH2 MAPK3
3 growth/size/body region MP:0005378 10.29 BRAF CRK GNAS ICAM1 IDH1 MAPK3
4 mortality/aging MP:0010768 10.28 BRAF CRK GNAS ICAM1 IDH1 IQGAP1
5 cellular MP:0005384 10.26 BRAF GNAS ICAM1 MAP2K7 MAPK3 NF1
6 immune system MP:0005387 10.18 BRAF GNAS ICAM1 IDH1 KIAA1549 MAPK3
7 craniofacial MP:0005382 10.15 BRAF CRK GNAS MAPK3 NF1 NFIC
8 digestive/alimentary MP:0005381 10.14 BRAF CRK ICAM1 IQGAP1 MAPK3 NF1
9 endocrine/exocrine gland MP:0005379 10.13 BRAF GNAS ICAM1 MAP2K7 MAPK3 NF1
10 integument MP:0010771 10.11 BRAF GNAS ICAM1 KRT75 MAP2K7 MAPK3
11 liver/biliary system MP:0005370 10.03 BRAF GNAS IQGAP1 MAPK3 MARK3 NF1
12 nervous system MP:0003631 10.03 BRAF CRK GNAS ICAM1 MAP2K7 MAPK3
13 muscle MP:0005369 10.02 BRAF CRK GNAS ICAM1 MAPK3 NF1
14 neoplasm MP:0002006 10.02 BRAF GNAS ICAM1 IDH2 IQGAP1 MAP2K7
15 respiratory system MP:0005388 9.81 BRAF CRK GNAS IDH1 MAPK3 NF1
16 skeleton MP:0005390 9.56 BRAF GNAS IDH1 MAPK3 NF1 NFIC
17 vision/eye MP:0005391 9.23 BRAF ICAM1 MAP2K7 MAPK3 NF1 NOTCH2

Drugs & Therapeutics for Pilocytic Astrocytoma of Cerebellum

Search Clinical Trials , NIH Clinical Center for Pilocytic Astrocytoma of Cerebellum

Genetic Tests for Pilocytic Astrocytoma of Cerebellum

Anatomical Context for Pilocytic Astrocytoma of Cerebellum

MalaCards organs/tissues related to Pilocytic Astrocytoma of Cerebellum:

41
Cerebellum, Brain, Tongue, B Cells

Publications for Pilocytic Astrocytoma of Cerebellum

Articles related to Pilocytic Astrocytoma of Cerebellum:

(show top 50) (show all 62)
# Title Authors PMID Year
1
Childhood cerebellar tumours mirror conserved fetal transcriptional programs. 38
31043743 2019
2
Co-existent pilocytic astrocytoma with acute B-cell leukemia within the cerebellum. 38
31408921 2019
3
The benefit of surveillance imaging for paediatric cerebellar pilocytic astrocytoma. 38
30770993 2019
4
Molecular genetics and therapeutic targets of pediatric low-grade gliomas. 38
30929113 2019
5
Prone versus sitting position in pediatric low-grade posterior fossa tumors. 38
30610475 2019
6
Solid non-enhancing cerebellar pilocytic astrocytoma case report. 38
30366781 2019
7
Mathematical skills in children with pilocytic astrocytoma. 38
30523458 2019
8
An elderly case of malignant small cell glioma with hemorrhage coexistent with a calcified pilocytic astrocytoma component in the cerebellar hemisphere. 38
29851180 2018
9
Cerebellar pilocytic astrocytoma in childhood: Investigating the long-term impact of surgery on cognitive performance and functional outcome. 38
28968151 2018
10
Rare compound heterozygous variants in PNKP identified by whole exome sequencing in a German patient with ataxia-oculomotor apraxia 4 and pilocytic astrocytoma. 38
29498415 2018
11
Pediatric cerebellar pilocytic astrocytoma presenting with spontaneous intratumoral hemorrhage. 38
29569086 2018
12
Supratentorial extension of large cerebellar pilocytic astrocytoma in adult. 38
29446978 2018
13
Posterior Fossa Tumors. 38
27889018 2017
14
Longitudinal mutational analysis of a cerebellar pilocytic astrocytoma recurring as a ganglioglioma. 38
27718322 2017
15
Postoperative surveillance of pediatric cerebellar pilocytic astrocytoma. 38
27502785 2016
16
Massive Calcified Cerebellar Pilocytic Astrocytoma with Rapid Recurrence : A Rare Case. 38
27651876 2016
17
A rare case of infantile cerebellar pilocytic astrocytoma and thrombocytopenia presenting with intratumoral hemorrhage. 38
27857799 2016
18
BRAF V600E-mutated diffuse glioma in an adult patient: a case report and review. 38
26445861 2016
19
Nocardia farcinica Meningitis Masquerading as Central Nervous System Metastasis in a Child With Cerebellar Pilocytic Astrocytoma. 38
26181420 2015
20
Clinical evidence of the role of the cerebellum in the suppression of overt articulatory movements during reading. A study of reading in children and adolescents treated for cerebellar pilocytic astrocytoma. 38
25326652 2015
21
Morphological brain lesions of pediatric cerebellar tumor survivors correlate with inferior neurocognitive function but do not affect health-related quality of life. 38
25686892 2015
22
IDH1 R132H mutation in a pilocytic astrocytoma: a case report. 38
26617931 2015
23
Spontaneous Malignant Transformation of a Pilocytic Astrocytoma of Cerebellum: Case Report. 38
28503586 2015
24
Incidence of kiaa1549-braf fusion gene in Egyptian pediatric low grade glioma. 38
25883769 2015
25
Long-term functional outcome of patients with cerebellar pilocytic astrocytoma surgically treated in childhood. 38
25383654 2015
26
Transformation of adult cerebellar pilocytic astrocytoma to glioblastoma. 38
23884731 2014
27
Long-term quality of life in children treated for posterior fossa brain tumors. 38
23829377 2013
28
Cerebellar pilocytic astrocytoma in adults: a management paradigm for a rare tumour. 38
23793962 2013
29
Metachronous, multicentric glioma of pilocytic astrocytoma with oligodendroglioma-like component and oligodendroglioma through distinct genetic aberrations. 38
23082883 2013
30
Short lasting activity-related headaches with sudden onset in children: a case-based reasoning on classification and diagnosis. 38
23565626 2013
31
Hemorrhagic onset of cerebellar pilocytic astrocytoma in an adult: a case report and review of the literature implying a possible relation of degenerative vascular changes to the massive intratumoral hemorrhage. 38
22009025 2012
32
Infantile cerebellar pilocytic astrocytoma with autism spectrum disorder. 38
22791126 2012
33
Multicompartmental cerebrospinal fluid dissemination of cerebellar pilocytic astrocytoma at presentation. 38
21764319 2011
34
Analysis of BRAF V600E mutation in 1,320 nervous system tumors reveals high mutation frequencies in pleomorphic xanthoastrocytoma, ganglioglioma and extra-cerebellar pilocytic astrocytoma. 38
21274720 2011
35
Primary cerebellar pilocytic astrocytoma with anaplastic features in a patient with neurofibromatosis type 1 - case report - . 38
21515958 2011
36
Pediatric cerebellar pilocytic astrocytoma presenting with hemorrhage. 38
21150081 2010
37
Chronic uncal herniation secondary to posterior fossa shunting: case report and literature review. 38
19915852 2010
38
Loss of fine motor function correlates with ataxia and decline of cognition in cerebellar tumor survivors. 38
19484752 2009
39
Posterior fossa neoplasm and PHACES syndrome: a case report. 38
19262249 2009
40
Cerebellar pilocytic astrocytoma presenting with intratumor bleeding, subarachnoid hemorrhage, and subdural hematoma. 38
18629510 2009
41
Combining anatomic and molecularly targeted imaging in the diagnosis and surveillance of embryonal tumors of the nervous and endocrine systems in children. 38
18581060 2008
42
Isolated tongue tremor after removal of cerebellar pilocytic astrocytoma: Functional analysis with SPECT study. 38
17657811 2007
43
Epilepsy and neuropsychologic deficit in a child with cerebellar astrocytoma. 38
16970895 2006
44
MR signal of the solid portion of pilocytic astrocytoma on T2-weighted images: is it useful for differentiation from medulloblastoma? 38
16550430 2006
45
Cerebellar pilocytic astrocytoma with auditory presentation: case study. 38
16417863 2005
46
[Cognitive and affective disturbances in children after surgical treatment of cerebellar tumors]. 38
15981157 2005
47
Hemosiderin pigmentation of tumour cells in cerebellar pilocytic astrocytoma associated with post-traumatic hemorrhage in adults. 38
16245213 2005
48
Long-term sequelae in children after cerebellar astrocytoma surgery. 38
15111667 2004
49
Spontaneous anaplasia in pilocytic astrocytoma of cerebellum. 38
14565523 2003
50
Quality-of-life assessment in patients who had been surgically treated for cerebellar pilocytic astrocytoma in childhood. 38
11838795 2002

Variations for Pilocytic Astrocytoma of Cerebellum

Expression for Pilocytic Astrocytoma of Cerebellum

Search GEO for disease gene expression data for Pilocytic Astrocytoma of Cerebellum.

Pathways for Pilocytic Astrocytoma of Cerebellum

Pathways related to Pilocytic Astrocytoma of Cerebellum according to GeneCards Suite gene sharing:

(show all 41)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.98 VIM NF1 MARK3 MAPK3 MAP2K7 IQGAP1
2
Show member pathways
13.79 VIM NOTCH2 NF1 MAPK3 MAP2K7 IQGAP1
3
Show member pathways
13.43 SHH NOTCH2 NF1 MARK3 MAPK3 MAP2K7
4
Show member pathways
13.12 VIM NF1 MARK3 MAPK3 IQGAP1 ICAM1
5
Show member pathways
12.76 MAPK3 MAP2K7 GNAS CRK BRAF
6
Show member pathways
12.68 MAPK3 MAP2K7 GNAS CRK BRAF
7 12.66 SHH NOTCH2 MAPK3 GNAS CRK BRAF
8 12.61 NF1 MAPK3 MAP2K7 CRK BRAF
9
Show member pathways
12.54 NF1 MAPK3 GNAS CRK BRAF
10
Show member pathways
12.5 MAPK3 MAP2K7 CRK BRAF
11
Show member pathways
12.44 VIM MAPK3 MAP2K7 CRK
12
Show member pathways
12.39 NOTCH2 NF1 MAPK3 MAP2K7 GNAS BRAF
13 12.33 VIM MAPK3 MAP2K7 GNAS
14
Show member pathways
12.31 MAPK3 MAP2K7 ICAM1 BRAF
15
Show member pathways
12.26 MAPK3 MAP2K7 IQGAP1 CRK BRAF
16
Show member pathways
12.13 MAPK3 MAP2K7 ICAM1 GNAS BRAF
17 12.13 SHH MAPK3 IQGAP1 BRAF
18 11.94 VIM MAPK3 ICAM1
19
Show member pathways
11.91 VIM MAPK3 MAP2K7 GNAS
20 11.91 MAPK3 GNAS BRAF
21 11.89 NF1 MAPK3 BRAF
22 11.89 MAPK3 MAP2K7 ICAM1
23
Show member pathways
11.87 MAPK3 MAP2K7 GNAS BRAF
24 11.86 MAPK3 GNAS BRAF
25
Show member pathways
11.86 NF1 MARK3 MAPK3 IQGAP1 BRAF
26 11.84 MAPK3 IQGAP1 BRAF
27
Show member pathways
11.82 NF1 MAPK3 IQGAP1 ICAM1 CRK BRAF
28 11.79 NF1 MAPK3 MAP2K7 BRAF
29 11.78 MAPK3 GNAS BRAF
30 11.67 VIM SHH NOTCH2
31 11.58 MAPK3 GNAS BRAF
32
Show member pathways
11.56 NF1 MAPK3 BRAF
33
Show member pathways
11.53 MARK3 MAPK3 BRAF
34 11.46 MAPK3 GNAS BRAF
35 11.39 NF1 MAPK3 BRAF
36 11.29 MAPK3 MAP2K7 GNAS BRAF
37
Show member pathways
11.23 NF1 MARK3 MAPK3 KIAA1549 IQGAP1 BRAF
38 10.93 VIM MAPK3
39 10.92 VIM MAPK3 MAP2K7 IQGAP1 GNAS
40
Show member pathways
10.76 IDH2 IDH1
41 10.71 MAPK3 GNAS BRAF

GO Terms for Pilocytic Astrocytoma of Cerebellum

Cellular components related to Pilocytic Astrocytoma of Cerebellum according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.61 VIM MARK3 KRT75 IQGAP1 IDH2 IDH1
2 membrane raft GO:0045121 9.46 SHH IQGAP1 ICAM1 CRK
3 cytosol GO:0005829 9.44 VIM SHH NF1 MARK3 MAPK3 MAP2K7
4 peroxisome GO:0005777 9.43 VIM IDH2 IDH1

Biological processes related to Pilocytic Astrocytoma of Cerebellum according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of GTPase activity GO:0043547 9.87 NF1 IQGAP1 ICAM1 GNAS
2 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.81 NOTCH2 MAPK3 ICAM1 BRAF
3 MAPK cascade GO:0000165 9.78 NF1 MARK3 MAPK3 BRAF
4 animal organ morphogenesis GO:0009887 9.73 NOTCH2 MAPK3 BRAF
5 regulation of GTPase activity GO:0043087 9.7 NF1 IQGAP1 CRK
6 thymus development GO:0048538 9.61 SHH MAPK3 BRAF
7 intermediate filament organization GO:0045109 9.55 VIM SHH
8 face development GO:0060324 9.54 MAPK3 BRAF
9 positive regulation of telomere maintenance via telomerase GO:0032212 9.54 PNKP MAPK3 MAP2K7
10 positive regulation of telomerase activity GO:0051973 9.5 PNKP MAPK3 MAP2K7
11 NADP metabolic process GO:0006739 9.49 IDH2 IDH1
12 isocitrate metabolic process GO:0006102 9.46 IDH2 IDH1
13 CD4-positive or CD8-positive, alpha-beta T cell lineage commitment GO:0043369 9.4 SHH BRAF
14 thyroid gland development GO:0030878 9.33 SHH MAPK3 BRAF
15 glyoxylate cycle GO:0006097 9.26 IDH2 IDH1
16 positive regulation of telomere capping GO:1904355 9.13 PNKP MAPK3 MAP2K7
17 Bergmann glial cell differentiation GO:0060020 8.8 VIM SHH MAPK3

Molecular functions related to Pilocytic Astrocytoma of Cerebellum according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 kinase activity GO:0016301 9.77 PNKP MARK3 MAPK3 MAP2K7 BRAF
2 scaffold protein binding GO:0097110 9.33 VIM MAPK3 CRK
3 MAP kinase kinase activity GO:0004708 9.32 MAPK3 MAP2K7
4 insulin-like growth factor receptor binding GO:0005159 9.26 GNAS CRK
5 isocitrate dehydrogenase activity GO:0004448 8.96 IDH2 IDH1
6 isocitrate dehydrogenase (NADP+) activity GO:0004450 8.62 IDH2 IDH1

Sources for Pilocytic Astrocytoma of Cerebellum

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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