MCID: NDL005
MIFTS: 42

Nodular Medulloblastoma

Categories: Cancer diseases, Neuronal diseases

Aliases & Classifications for Nodular Medulloblastoma

MalaCards integrated aliases for Nodular Medulloblastoma:

Name: Nodular Medulloblastoma 12 15
Medulloblastoma, with Extensive Nodularity 74

Classifications:



External Ids:

Disease Ontology 12 DOID:3873
NCIt 51 C5407
UMLS 74 C1334970

Summaries for Nodular Medulloblastoma

MalaCards based summary : Nodular Medulloblastoma, also known as medulloblastoma, with extensive nodularity, is related to medulloblastoma and atypical teratoid rhabdoid tumor, and has symptoms including vomiting, gait ataxia and headache. An important gene associated with Nodular Medulloblastoma is SUFU (SUFU Negative Regulator Of Hedgehog Signaling), and among its related pathways/superpathways are G-Beta Gamma Signaling and Pathways in cancer. The drugs Carboplatin and Methotrexate have been mentioned in the context of this disorder. Affiliated tissues include brain, pancreas and thyroid, and related phenotypes are shRNA abundance <= 50% and behavior/neurological

Related Diseases for Nodular Medulloblastoma

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

(show top 50) (show all 58)
# Related Disease Score Top Affiliating Genes
1 medulloblastoma 29.8 CTNNB1 GFAP GLI1 GLI2 IDH1 MYC
2 atypical teratoid rhabdoid tumor 29.3 CTNNB1 GFAP SMARCB1
3 holoprosencephaly, recurrent infections, and monocytosis 10.3 GLI2 PTCH1
4 calcifying epithelial odontogenic tumor 10.3 GLI2 PTCH1
5 holoprosencephaly 10.2 GLI2 PTCH1 SHH
6 septopreoptic holoprosencephaly 10.2 GLI2 PTCH1 SHH
7 midline interhemispheric variant of holoprosencephaly 10.2 GLI2 PTCH1 SHH
8 alobar holoprosencephaly 10.2 GLI2 PTCH1 SHH
9 lobar holoprosencephaly 10.2 GLI2 PTCH1 SHH
10 semilobar holoprosencephaly 10.2 GLI2 PTCH1 SHH
11 greig cephalopolysyndactyly syndrome 10.2 GLI2 PTCH1 SHH
12 desmoplastic infantile ganglioglioma 10.2 GFAP MYCN
13 bardet-biedl syndrome 17 10.2 GLI2 PTCH1 SHH
14 esophageal atresia 10.2 GLI2 MYCN SHH
15 vulva basal cell carcinoma 10.1 MYC PTCH1
16 albinism, oculocutaneous, type v 10.1 SHH SUFU
17 pallister-hall syndrome 10.1 GLI1 GLI2 SHH
18 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 10.1 GLI1 GLI2 SHH
19 pilomyxoid astrocytoma 10.1 DOCK6 GFAP SUFU
20 melanotic medulloblastoma 10.1 GFAP SMARCB1
21 microform holoprosencephaly 10.1 GLI2 PTCH1 SHH SUFU
22 obstructive hydrocephalus 10.1 GFAP SUFU
23 rhabdoid meningioma 10.1 GFAP SMARCB1
24 focal epithelial hyperplasia 10.1 GLI1 GLI2 SHH
25 askin's tumor 10.1 MYC MYCN
26 extraventricular neurocytoma 10.1 GFAP IDH1
27 cerebral ventricle cancer 10.1 GFAP SMARCB1
28 keratocystic odontogenic tumor 10.1 GLI1 PTCH1 SHH SUFU
29 holoprosencephaly 4 10.1 MYC SHH
30 dysembryoplastic neuroepithelial tumor 10.0 GFAP IDH1
31 mixed glioma 10.0 GFAP IDH1
32 angiocentric glioma 10.0 GFAP IDH1
33 cerebral primitive neuroectodermal tumor 10.0 MYC MYCL MYCN
34 meningioma, familial 10.0 GFAP SMARCB1 SUFU
35 glioma susceptibility 1 9.9 GFAP IDH1
36 childhood medulloblastoma 9.9 MYC MYCN PTCH1 SUFU
37 cerebellar liponeurocytoma 9.9 GFAP PTCH1 SMARCB1 SUFU
38 small cell cancer of the lung 9.9 MYC MYCL MYCN
39 pleomorphic xanthoastrocytoma 9.9 GFAP IDH1 SMARCB1
40 cerebellopontine angle tumor 9.9 GFAP IDH1 SMARCB1
41 down syndrome 9.9
42 ectodermal dysplasia 9.9
43 rhabdoid cancer 9.9
44 basal cell nevus syndrome 9.9 GLI1 GLI2 PTCH1 SHH SUFU
45 chondroma 9.8 CTNNB1 GLI1
46 lung acinar adenocarcinoma 9.8 CTNNB1 MYC
47 fibrillary astrocytoma 9.7 GFAP IDH1
48 medullomyoblastoma 9.7 GFAP MYC MYCN SMARCB1
49 hemimegalencephaly 9.6 CTNNB1 GFAP MYC
50 pancreas adenocarcinoma 9.5 CTNNB1 GLI1 MYC SHH

Graphical network of the top 20 diseases related to Nodular Medulloblastoma:



Diseases related to Nodular Medulloblastoma

Symptoms & Phenotypes for Nodular Medulloblastoma

UMLS symptoms related to Nodular Medulloblastoma:


vomiting, gait ataxia, headache

GenomeRNAi Phenotypes related to Nodular Medulloblastoma according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 shRNA abundance <= 50% GR00343-S 9.28 GLI1 GLI2 MYC MYCL SHH SLC5A7

MGI Mouse Phenotypes related to Nodular Medulloblastoma:

47 (show all 25)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.4 CLDN11 CTNNB1 GFAP GLI1 GLI2 MYC
2 digestive/alimentary MP:0005381 10.34 CTNNB1 GFAP GLI1 GLI2 MYC MYCN
3 growth/size/body region MP:0005378 10.32 CTNNB1 GFAP GLI1 GLI2 IDH1 MYC
4 mortality/aging MP:0010768 10.32 CTNNB1 GFAP GLI1 GLI2 IDH1 MYC
5 cellular MP:0005384 10.31 CLDN11 CTNNB1 GFAP GLI1 GLI2 MYC
6 homeostasis/metabolism MP:0005376 10.29 CTNNB1 GFAP GLI2 IDH1 MYC MYCN
7 cardiovascular system MP:0005385 10.27 CTNNB1 GFAP MYC MYCN PTCH1 SHH
8 embryo MP:0005380 10.24 CTNNB1 GLI1 GLI2 MYC MYCN PTCH1
9 immune system MP:0005387 10.24 CTNNB1 GFAP IDH1 MYC MYCL PTCH1
10 nervous system MP:0003631 10.22 CLDN11 CTNNB1 GFAP GLI1 GLI2 MYC
11 craniofacial MP:0005382 10.21 CTNNB1 GLI1 GLI2 MYC MYCN PTCH1
12 hematopoietic system MP:0005397 10.21 CTNNB1 IDH1 MYC MYCL MYCN PTCH1
13 endocrine/exocrine gland MP:0005379 10.19 CLDN11 CTNNB1 GLI1 GLI2 MYC PTCH1
14 limbs/digits/tail MP:0005371 10.11 CTNNB1 GLI1 GLI2 MYC MYCN PTCH1
15 normal MP:0002873 10.1 CTNNB1 GFAP GLI1 GLI2 MYC MYCL
16 integument MP:0010771 10.07 CTNNB1 GLI2 MYC PTCH1 SHH SLC5A7
17 muscle MP:0005369 10.06 CTNNB1 GFAP GLI2 MYC MYCN PTCH1
18 hearing/vestibular/ear MP:0005377 10.04 CLDN11 CTNNB1 GLI2 MYC PTCH1 SHH
19 liver/biliary system MP:0005370 10.04 CTNNB1 MYC MYCN SHH SLC5A7 SMARCB1
20 no phenotypic analysis MP:0003012 10.02 CTNNB1 GLI1 GLI2 MYC MYCN PTCH1
21 neoplasm MP:0002006 9.98 CTNNB1 GLI1 MYC PTCH1 SHH SMARCB1
22 reproductive system MP:0005389 9.91 CLDN11 CTNNB1 GLI1 GLI2 MYC MYCN
23 respiratory system MP:0005388 9.81 CTNNB1 GLI1 GLI2 IDH1 MYCN PTCH1
24 skeleton MP:0005390 9.56 CTNNB1 GLI2 IDH1 MYC MYCN PTCH1
25 vision/eye MP:0005391 9.32 CLDN11 CTNNB1 GFAP GLI2 MYCN PTCH1

Drugs & Therapeutics for Nodular Medulloblastoma

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

(show all 27)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carboplatin Approved Phase 2 41575-94-4 10339178 38904 498142
2
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
3
Etoposide Approved Phase 2 33419-42-0 36462
4
Vincristine Approved, Investigational Phase 2 2068-78-2, 57-22-7 5978
5
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
6
leucovorin Approved Phase 2 58-05-9 143 6006
7
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
8
Emodepside Investigational, Vet_approved Phase 2 155030-63-0
9 Antineoplastic Agents, Alkylating Phase 2
10 Dermatologic Agents Phase 2
11 Nucleic Acid Synthesis Inhibitors Phase 2
12 Antimetabolites, Antineoplastic Phase 2
13 Podophyllotoxin Phase 2 518-28-5
14 Antirheumatic Agents Phase 2
15 Alkylating Agents Phase 2
16 Topoisomerase Inhibitors Phase 2
17 Vitamin B9 Phase 2
18 Etoposide phosphate Phase 2
19 Immunologic Factors Phase 2
20 Antimitotic Agents Phase 2
21 Folate Phase 2
22 Folic Acid Antagonists Phase 2
23 Vitamin B Complex Phase 2
24 Immunosuppressive Agents Phase 2
25 Antimetabolites Phase 2
26 Keratolytic Agents Phase 2
27 Antineoplastic Agents, Phytogenic Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Combination Chemotherapy in Treating Younger Patients With Newly Diagnosed, Non-metastatic Desmoplastic Medulloblastoma Active, not recruiting NCT02017964 Phase 2 Carboplatin;Cyclophosphamide;Etoposide;Methotrexate;Vincristine Sulfate

Search NIH Clinical Center for Nodular Medulloblastoma

Genetic Tests for Nodular Medulloblastoma

Anatomical Context for Nodular Medulloblastoma

MalaCards organs/tissues related to Nodular Medulloblastoma:

42
Brain, Pancreas, Thyroid

Publications for Nodular Medulloblastoma

Articles related to Nodular Medulloblastoma:

# Title Authors Year
1
Desmoplastic nodular medulloblastoma in young children: a management dilemma. ( 29156007 )
2018
2
-Erratum for the paper "Kalogeraki A, Tamiolakis D, Mavrigiannaki P, Karvelaskalogerakis M, Datseri G, Agelaki S, Papadopoulos S. Recurrent Cerebellar Desmoplastic/Nodular Medulloblastoma in Cerebrospinal Fluid (CSF) in the Elderly. A Cytologic Diagnosis. Rom J Intern Med. 2016; 54(2):137-9". ( 28118148 )
2017
3
SHH desmoplastic/nodular medulloblastoma and Gorlin syndrome in the setting of Down syndrome: case report, molecular profiling, and review of the literature. ( 27444290 )
2016
4
Cavernous angioma after chemotherapy for desmoplastic/nodular medulloblastoma associated with anhidrotic ectodermal dysplasia. ( 26231569 )
2016
5
Recurrent Cerebellar Desmoplastic/Nodular Medulloblastoma in Cerebrospinal Fluid (CSF) in the Elderly. A Cytologic Diagnosis. ( 27352444 )
2016
6
Ovarian primitive-type neuroectodermal tumour composed of desmoplastic/nodular medulloblastoma-like and atypical teratoid/rhabdoid tumour components. ( 26383534 )
2016
7
Clinical, pathological, and molecular data on desmoplastic/nodular medulloblastoma: case studies and a review of the literature. ( 26857864 )
2016
8
High frequency of germline SUFU mutations in children with desmoplastic/nodular medulloblastoma younger than 3 years of age. ( 22508808 )
2012
9
Atypical teratoid rhabdoid tumor mimicking beta-catenin-positive nodular medulloblastoma. ( 21229255 )
2011
10
Nodular medulloblastoma. ( 11014561 )
2000

Variations for Nodular Medulloblastoma

Expression for Nodular Medulloblastoma

Search GEO for disease gene expression data for Nodular Medulloblastoma.

Pathways for Nodular Medulloblastoma

Pathways related to Nodular Medulloblastoma according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.8 CTNNB1 GLI1 GLI2 PTCH1 SUFU
2 12.59 CTNNB1 GLI1 GLI2 MYC PTCH1 SHH
3
Show member pathways
12.39 GLI1 GLI2 PTCH1 SHH SUFU
4 12.1 CTNNB1 MYC PTCH1 SHH
5 11.89 CLDN11 CTNNB1 MYC SHH
6
Show member pathways
11.77 GLI1 GLI2 PTCH1 SHH SUFU
7 11.71 CTNNB1 GFAP MYC
8 11.69 CTNNB1 GLI1 GLI2 PTCH1 SHH SUFU
9
Show member pathways
11.59 CTNNB1 GLI1 GLI2 PTCH1 SHH SUFU
10
Show member pathways
11.1 GLI2 PTCH1 SHH
11 11.05 GLI1 GLI2 PTCH1 SHH
12 11.02 GLI1 GLI2 SHH
13 10.41 PTCH1 SHH
14 10.18 MYC MYCN

GO Terms for Nodular Medulloblastoma

Cellular components related to Nodular Medulloblastoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cilium GO:0005929 9.46 GLI1 GLI2 PTCH1 SUFU
2 ciliary tip GO:0097542 9.13 GLI1 GLI2 SUFU
3 ciliary base GO:0097546 8.8 GLI1 GLI2 SUFU

Biological processes related to Nodular Medulloblastoma according to GeneCards Suite gene sharing:

(show top 50) (show all 62)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression GO:0010629 9.99 CTNNB1 MYC MYCN SHH
2 in utero embryonic development GO:0001701 9.95 CTNNB1 GLI2 MYC PTCH1
3 kidney development GO:0001822 9.89 CTNNB1 GLI2 SHH
4 response to estradiol GO:0032355 9.88 CTNNB1 MYC PTCH1
5 response to wounding GO:0009611 9.86 GFAP GLI1 MYC
6 canonical Wnt signaling pathway GO:0060070 9.85 CTNNB1 GLI1 SHH
7 pattern specification process GO:0007389 9.84 GLI2 PTCH1 SHH
8 lung development GO:0030324 9.83 CTNNB1 GLI1 GLI2 SHH
9 embryonic digit morphogenesis GO:0042733 9.82 CTNNB1 GLI2 SHH
10 odontogenesis of dentin-containing tooth GO:0042475 9.82 CTNNB1 GLI2 SHH
11 skin development GO:0043588 9.81 CTNNB1 SHH SUFU
12 liver regeneration GO:0097421 9.76 GLI1 MYC PTCH1
13 positive regulation of transcription, DNA-templated GO:0045893 9.76 CTNNB1 GLI1 GLI2 MYC MYCN PTCH1
14 positive regulation of mesenchymal cell proliferation GO:0002053 9.74 CTNNB1 MYC SHH
15 anatomical structure formation involved in morphogenesis GO:0048646 9.73 GLI2 SHH
16 positive regulation of neuroblast proliferation GO:0002052 9.73 CTNNB1 SHH
17 cell fate specification GO:0001708 9.73 CTNNB1 SHH
18 proximal/distal pattern formation GO:0009954 9.73 CTNNB1 GLI1 GLI2
19 smoothened signaling pathway GO:0007224 9.73 GLI1 GLI2 PTCH1 SHH
20 male genitalia development GO:0030539 9.72 CTNNB1 SHH
21 osteoblast development GO:0002076 9.72 GLI2 SHH
22 cell fate determination GO:0001709 9.72 CTNNB1 PTCH1
23 intermediate filament organization GO:0045109 9.72 GFAP SHH
24 negative regulation of chondrocyte differentiation GO:0032331 9.72 CTNNB1 GLI2
25 regulation of smoothened signaling pathway GO:0008589 9.72 GLI1 GLI2 PTCH1
26 epithelial tube branching involved in lung morphogenesis GO:0060441 9.71 CTNNB1 SHH
27 positive regulation of glial cell proliferation GO:0060252 9.71 GFAP MYC
28 somite development GO:0061053 9.71 PTCH1 SHH
29 digestive tract morphogenesis GO:0048546 9.7 GLI1 SHH
30 ectoderm development GO:0007398 9.7 CTNNB1 SHH
31 regulation of osteoblast differentiation GO:0045667 9.7 CTNNB1 GLI1
32 positive regulation of T cell differentiation in thymus GO:0033089 9.69 GLI2 SHH
33 hindbrain development GO:0030902 9.69 CTNNB1 GLI2 SHH
34 embryonic foregut morphogenesis GO:0048617 9.68 CTNNB1 SHH
35 positive regulation of skeletal muscle tissue development GO:0048643 9.68 CTNNB1 SHH
36 Bergmann glial cell differentiation GO:0060020 9.67 GFAP SHH
37 lung-associated mesenchyme development GO:0060484 9.67 CTNNB1 SHH
38 negative regulation of cell division GO:0051782 9.67 MYC PTCH1
39 spinal cord motor neuron differentiation GO:0021522 9.67 GLI2 PTCH1 SHH
40 branching involved in ureteric bud morphogenesis GO:0001658 9.67 CTNNB1 MYC PTCH1 SHH
41 smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:0060831 9.66 GLI2 PTCH1
42 mammary gland duct morphogenesis GO:0060603 9.64 GLI2 PTCH1
43 cerebellar cortex morphogenesis GO:0021696 9.63 GLI1 GLI2
44 prostate gland development GO:0030850 9.63 GLI1 PTCH1 SHH
45 hindgut morphogenesis GO:0007442 9.62 GLI2 SHH
46 trachea morphogenesis GO:0060439 9.62 CTNNB1 SHH
47 mesenchymal cell proliferation involved in lung development GO:0060916 9.61 CTNNB1 SHH
48 positive regulation of epithelial cell proliferation involved in prostate gland development GO:0060769 9.61 CTNNB1 SHH
49 smoothened signaling pathway involved in spinal cord motor neuron cell fate specification GO:0021776 9.6 GLI2 SUFU
50 smoothened signaling pathway involved in ventral spinal cord interneuron specification GO:0021775 9.59 GLI2 SUFU

Molecular functions related to Nodular Medulloblastoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 9.73 CTNNB1 GLI2 MYC MYCL MYCN USF1
2 transcription factor binding GO:0008134 9.67 CTNNB1 GLI2 MYC SUFU
3 kinase binding GO:0019900 9.5 CTNNB1 GFAP MYCN
4 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.35 GLI1 GLI2 MYC MYCN SMARCB1
5 patched binding GO:0005113 9.16 PTCH1 SHH
6 protein dimerization activity GO:0046983 8.92 MYC MYCL MYCN USF1

Sources for Nodular Medulloblastoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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