MCID: NDL005
MIFTS: 36

Nodular Medulloblastoma

Categories: Cancer diseases, Neuronal diseases

Aliases & Classifications for Nodular Medulloblastoma

MalaCards integrated aliases for Nodular Medulloblastoma:

Name: Nodular Medulloblastoma 12 14
Medulloblastoma, with Extensive Nodularity 69

Classifications:



External Ids:

Disease Ontology 12 DOID:3873
NCIt 47 C5407
UMLS 69 C1334970

Summaries for Nodular Medulloblastoma

MalaCards based summary : Nodular Medulloblastoma, also known as medulloblastoma, with extensive nodularity, is related to medulloblastoma and sonoda syndrome, and has symptoms including headache, vomiting and gait ataxia. 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 Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include brain, and related phenotypes are digestive/alimentary 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 53)
id Related Disease Score Top Affiliating Genes
1 medulloblastoma 11.3
2 sonoda syndrome 10.2 GLI1 SUFU
3 homocystinuria due to defect in methylation cbl g 10.2 GLI2 PTCH1
4 camptocormism 10.2 GLI2 PTCH1
5 sporadic pheochromocytoma 10.2 GLI2 PTCH1
6 celosomia 10.2 GLI2 PTCH1
7 polydactyly, preaxial, type iv 10.2 GLI1 GLI2
8 laryngotracheoesophageal cleft type 2 10.2 GLI2 PTCH1
9 c5 deficiency 10.2 GLI1 GLI2
10 laryngotracheoesophageal cleft type 4 10.2 GLI2 PTCH1
11 serous surface papilloma 10.2 CTNNB1 GLI1
12 isolated facial myokymia 10.2 GLI2 PTCH1
13 pneumothorax, primary spontaneous 10.1 CTNNB1 PTCH1
14 macular dystrophy, patterned, 3 10.0 GLI2 PTCH1
15 vestibular gland benign neoplasm 10.0 CTNNB1 SMARCB1
16 basosquamous carcinoma 10.0 GFAP SMARCB1
17 childhood choroid plexus cancer 10.0 GFAP SMARCB1
18 brachial plexus neuritis 10.0 GFAP SMARCB1
19 pineoblastoma 9.9 GFAP SMARCB1
20 brain stem ependymoma 9.9 GFAP SMARCB1
21 pelizaeus-merzbacher disease in female carriers 9.9 GLI2 PTCH1 SUFU
22 gliofibroma 9.9 GFAP SMARCB1
23 hemoglobinemia 9.9 CTNNB1 GFAP
24 thrombophlebitis 9.9 GLI2 PTCH1 SUFU
25 macrocystic neurilemmoma 9.9 GFAP SMARCB1
26 cataract 24, anterior polar 9.9 GFAP SMARCB1
27 atypical choroid plexus papilloma 9.9 GFAP SMARCB1
28 small cell neuroendocrine carcinoma 9.9 CTNNB1 PTCH1
29 peritoneal benign neoplasm 9.8 GFAP SMARCB1
30 connective tissue benign neoplasm 9.8 CTNNB1 GFAP
31 melanotic medulloblastoma 9.8 GFAP SMARCB1
32 pancreatic somatostatinoma 9.8 CTNNB1 GLI1
33 oral antidiabetic drugs toxicity or dose selection 9.8 GLI1 PTCH1 SUFU
34 central nervous system sarcoma 9.8 GFAP SMARCB1
35 sternum cancer 9.8 GFAP SMARCB1
36 heavy chain disease 9.7 GLI1 GLI2 PTCH1
37 small cell sarcoma 9.7 GLI1 PTCH1 SMARCB1
38 down syndrome 9.7
39 ectodermal dysplasia 9.7
40 atypical teratoid rhabdoid tumor 9.7
41 hypoglossal nerve neoplasm 9.6 GFAP SMARCB1
42 prostate embryonal rhabdomyosarcoma 9.6 GLI1 PTCH1
43 temporal lobe neoplasm 9.5 CTNNB1 GFAP SMARCB1
44 bone squamous cell carcinoma 9.4 GLI1 PTCH1
45 basal cell nevus syndrome 9.4 GLI1 GLI2 PTCH1 SUFU
46 large intestine lipoma 9.0 GFAP PTCH1 SMARCB1 SUFU
47 autoimmune lymphoproliferative syndrome 9.0 GFAP PTCH1 SMARCB1 SUFU
48 childhood medulloblastoma 9.0 GFAP GLI1 PTCH1 SUFU
49 orchitis 8.9 CTNNB1 GLI1 GLI2 PTCH1 SUFU
50 nodular goiter 8.9 CTNNB1 GFAP PTCH1 SMARCB1

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:


headache, vomiting, gait ataxia

MGI Mouse Phenotypes related to Nodular Medulloblastoma:

44 (show all 15)
id Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 10.05 GLI1 GLI2 PTCH1 SMARCB1 SUFU CTNNB1
2 behavior/neurological MP:0005386 10.02 CTNNB1 GFAP GLI1 GLI2 PTCH1 SMARCB1
3 growth/size/body region MP:0005378 10.02 CTNNB1 GFAP GLI1 PTCH1 GLI2 SMARCB1
4 cellular MP:0005384 10.01 CTNNB1 GFAP GLI1 GLI2 PTCH1 SMARCB1
5 mortality/aging MP:0010768 9.98 CTNNB1 GFAP GLI1 GLI2 PTCH1 SMARCB1
6 embryo MP:0005380 9.97 CTNNB1 GLI1 GLI2 PTCH1 SMARCB1 SUFU
7 craniofacial MP:0005382 9.92 CTNNB1 GLI1 GLI2 PTCH1 SUFU
8 nervous system MP:0003631 9.87 CTNNB1 GFAP GLI1 GLI2 PTCH1 SMARCB1
9 limbs/digits/tail MP:0005371 9.85 GLI1 GLI2 PTCH1 SUFU CTNNB1
10 muscle MP:0005369 9.8 CTNNB1 GFAP GLI2 PTCH1 SMARCB1
11 neoplasm MP:0002006 9.77 CTNNB1 GLI1 PTCH1 SMARCB1 SUFU
12 no phenotypic analysis MP:0003012 9.65 CTNNB1 GLI1 GLI2 PTCH1 SUFU
13 normal MP:0002873 9.63 CTNNB1 GFAP GLI1 GLI2 PTCH1 SUFU
14 respiratory system MP:0005388 9.35 GLI2 PTCH1 SUFU CTNNB1 GLI1
15 vision/eye MP:0005391 9.1 CTNNB1 GFAP GLI2 PTCH1 SMARCB1 SUFU

Drugs & Therapeutics for Nodular Medulloblastoma

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

(show all 28)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carboplatin Approved Phase 2 41575-94-4 10339178 498142 38904
2
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
3
Etoposide Approved Phase 2 33419-42-0 36462
4
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
5
Vincristine Approved, Investigational Phase 2 2068-78-2, 57-22-7 5978
6
Cisplatin Approved Phase 2 15663-27-1 84093 441203 2767
7
Topotecan Approved, Investigational Phase 2 119413-54-6, 123948-87-8 60700
8
Vinblastine Approved Phase 2 865-21-4 13342 241903
9
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
10
leucovorin Approved, Nutraceutical Phase 2 58-05-9 143 6006
11 Alkylating Agents Phase 2
12 Antimetabolites Phase 2
13 Antimetabolites, Antineoplastic Phase 2
14 Antimitotic Agents Phase 2
15 Antineoplastic Agents, Phytogenic Phase 2
16 Antirheumatic Agents Phase 2
17 Dermatologic Agents Phase 2
18 Etoposide phosphate Phase 2
19 Folic Acid Antagonists Phase 2
20 Immunosuppressive Agents Phase 2
21 Nucleic Acid Synthesis Inhibitors Phase 2
22 Topoisomerase Inhibitors Phase 2
23 Vitamin B Complex Phase 2
24
Erlotinib Hydrochloride Phase 2 183319-69-9 176871
25 Protein Kinase Inhibitors Phase 2
26 topoisomerase I inhibitors Phase 2
27 Folate Nutraceutical Phase 2
28 Vitamin B9 Nutraceutical Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Combination Chemotherapy in Treating Younger Patients With Newly Diagnosed, Non-Metastatic Desmoplastic Medulloblastoma Completed NCT02017964 Phase 2 Vincristine Sulfate;Cyclophosphamide;Methotrexate;Etoposide;Carboplatin
2 Risk-Adapted Therapy for Young Children With Embryonal Brain Tumors, Choroid Plexus Carcinoma, High Grade Glioma or Ependymoma Active, not recruiting NCT00602667 Phase 2 Induction Chemotherapy;Low-Risk Therapy;High-Risk Therapy;Intermediate-Risk Therapy

Search NIH Clinical Center for Nodular Medulloblastoma

Genetic Tests for Nodular Medulloblastoma

Anatomical Context for Nodular Medulloblastoma

MalaCards organs/tissues related to Nodular Medulloblastoma:

39
Brain

Publications for Nodular Medulloblastoma

Articles related to Nodular Medulloblastoma:

id Title Authors Year
1
-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
2
Clinical, pathological, and molecular data on desmoplastic/nodular medulloblastoma: case studies and a review of the literature. ( 26857864 )
2016
3
Recurrent Cerebellar Desmoplastic/Nodular Medulloblastoma in Cerebrospinal Fluid (CSF) in the Elderly. A Cytologic Diagnosis. ( 27352444 )
2016
4
SHH desmoplastic/nodular medulloblastoma and Gorlin syndrome in the setting of Down syndrome: case report, molecular profiling, and review of the literature. ( 27444290 )
2016
5
Cavernous angioma after chemotherapy for desmoplastic/nodular medulloblastoma associated with anhidrotic ectodermal dysplasia. ( 26231569 )
2015
6
Ovarian primitive-type neuroectodermal tumour composed of desmoplastic/nodular medulloblastoma-like and atypical teratoid/rhabdoid tumour components. ( 26383534 )
2015
7
High frequency of germline SUFU mutations in children with desmoplastic/nodular medulloblastoma younger than 3 years of age. ( 22508808 )
2012
8
Atypical teratoid rhabdoid tumor mimicking beta-catenin-positive nodular medulloblastoma. ( 21229255 )
2011
9
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

GO Terms for Nodular Medulloblastoma

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

id 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 all 39)
id Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 9.96 CTNNB1 GLI1 GLI2 SMARCB1
2 negative regulation of transcription from RNA polymerase II promoter GO:0000122 9.94 CTNNB1 GLI2 PTCH1 SUFU
3 positive regulation of transcription, DNA-templated GO:0045893 9.92 CTNNB1 GLI1 GLI2 PTCH1
4 in utero embryonic development GO:0001701 9.8 CTNNB1 GLI2 PTCH1
5 skeletal system development GO:0001501 9.75 CTNNB1 GLI2 SUFU
6 lung development GO:0030324 9.71 CTNNB1 GLI1 GLI2
7 response to mechanical stimulus GO:0009612 9.68 GLI2 PTCH1
8 negative regulation of sequence-specific DNA binding transcription factor activity GO:0043433 9.68 PTCH1 SUFU
9 embryonic digit morphogenesis GO:0042733 9.67 CTNNB1 GLI2
10 odontogenesis of dentin-containing tooth GO:0042475 9.67 CTNNB1 GLI2
11 pattern specification process GO:0007389 9.67 GLI2 PTCH1
12 smoothened signaling pathway GO:0007224 9.67 GLI1 GLI2 PTCH1
13 skin development GO:0043588 9.66 CTNNB1 SUFU
14 branching involved in ureteric bud morphogenesis GO:0001658 9.65 CTNNB1 PTCH1
15 negative regulation of osteoblast differentiation GO:0045668 9.65 PTCH1 SUFU
16 positive regulation of DNA replication GO:0045740 9.65 GLI1 GLI2
17 mammary gland development GO:0030879 9.63 GLI2 PTCH1
18 pituitary gland development GO:0021983 9.63 GLI1 GLI2
19 hindbrain development GO:0030902 9.61 CTNNB1 GLI2
20 renal system development GO:0072001 9.61 CTNNB1 PTCH1
21 negative regulation of smoothened signaling pathway GO:0045879 9.6 PTCH1 SUFU
22 spinal cord motor neuron differentiation GO:0021522 9.59 GLI2 PTCH1
23 negative regulation of chondrocyte differentiation GO:0032331 9.58 CTNNB1 GLI2
24 cell fate determination GO:0001709 9.57 CTNNB1 PTCH1
25 dorsal/ventral neural tube patterning GO:0021904 9.56 GLI2 PTCH1
26 regulation of osteoblast differentiation GO:0045667 9.55 CTNNB1 GLI1
27 smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:0060831 9.52 GLI2 PTCH1
28 mammary gland duct morphogenesis GO:0060603 9.51 GLI2 PTCH1
29 cerebellar cortex morphogenesis GO:0021696 9.48 GLI1 GLI2
30 spinal cord dorsal/ventral patterning GO:0021513 9.46 GLI2 SUFU
31 smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation GO:0021938 9.43 GLI1 GLI2
32 ventral midline development GO:0007418 9.4 GLI1 GLI2
33 smoothened signaling pathway involved in spinal cord motor neuron cell fate specification GO:0021776 9.37 GLI2 SUFU
34 liver regeneration GO:0097421 9.34 GLI1
35 proximal/distal pattern formation GO:0009954 9.33 CTNNB1 GLI1 GLI2
36 smoothened signaling pathway involved in ventral spinal cord interneuron specification GO:0021775 9.32 GLI2 SUFU
37 notochord regression GO:0060032 9.26 GLI1 GLI2
38 regulation of smoothened signaling pathway GO:0008589 9.13 GLI1 GLI2 PTCH1
39 dorsal/ventral pattern formation GO:0009953 8.92 CTNNB1 GLI1 GLI2 PTCH1

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

id Name GO ID Score Top Affiliating Genes
1 transcription factor binding GO:0008134 9.33 CTNNB1 GLI2 SUFU
2 transcription regulatory region DNA binding GO:0044212 9.13 CTNNB1 GLI1 GLI2
3 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000978 8.92 CTNNB1 GLI1 GLI2 SMARCB1

Sources for Nodular Medulloblastoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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