MCID: NDL005
MIFTS: 36

Nodular Medulloblastoma malady

Categories: Cancer diseases, Neuronal diseases

Aliases & Classifications for Nodular Medulloblastoma

Aliases & Descriptions 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 horseshoe kidney, 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. 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 56)
id Related Disease Score Top Affiliating Genes
1 medulloblastoma 11.3
2 horseshoe kidney 10.2 GLI2 PTCH1
3 anal margin basal cell carcinoma 10.2 PTCH1 SUFU
4 camptomelic syndrome long limb type 10.2 GLI2 PTCH1
5 polydactyly, postaxial, types a1 and b 10.2 GLI1 GLI2
6 dysautonomia, familial 10.2 GLI1 GLI2
7 colorectal cancer, hereditary nonpolyposis, type 2 10.1 GLI2 PTCH1
8 primary oculocerebral lymphoma 10.1 GLI2 PTCH1
9 late-onset nephronophthisis 10.1 GLI2 PTCH1
10 thrombophlebitis 10.1 GFAP SMARCB1
11 myxopapillary ependymoma 10.1 GFAP SMARCB1
12 trombiculiasis 10.1 GFAP SMARCB1
13 olfactory neuroblastoma 10.1 GFAP SMARCB1
14 antenatal bartter syndrome 10.1 GLI2 PTCH1
15 pineoblastoma 10.1 GFAP SMARCB1
16 familial infantile bilateral striatal necrosis 10.1 GLI2 PTCH1
17 brain stem astrocytic neoplasm 10.1 GFAP SMARCB1
18 childhood choroid plexus cancer 10.1 GFAP SMARCB1
19 atypical hemolytic-uremic syndrome with h factor anomaly 10.1 GLI2 PTCH1
20 dysgerminoma of ovary 10.1 GFAP SMARCB1
21 central nervous system sarcoma 10.1 GFAP SMARCB1
22 glaucoma 1, open angle, f 10.1 GLI2 PTCH1
23 bronchitis 10.1 GFAP PTCH1
24 cervical benign neoplasm 10.1 GFAP PTCH1
25 pancreatic cancer 10.1 GFAP SMARCB1
26 melanotic neurilemmoma 10.1 GFAP SMARCB1
27 colonic pseudo-obstruction 10.0 GLI2 PTCH1 SUFU
28 thoracic outlet syndrome 10.0 PTCH1 SMARCB1 SUFU
29 inner ear cancer 10.0 GFAP SMARCB1
30 statin toxicity 10.0 GLI1 PTCH1 SUFU
31 serous surface papilloma 10.0 CTNNB1 GLI1
32 pharynx cancer 10.0 GFAP SMARCB1
33 alpha chain disease 10.0 GLI1 GLI2 PTCH1
34 mast-cell sarcoma 10.0 GFAP SMARCB1 SUFU
35 childhood medulloblastoma 10.0 GFAP SMARCB1
36 thyrotoxic periodic paralysis 2 10.0 CTNNB1 PTCH1
37 clear cell meningioma 10.0 GFAP PTCH1 SUFU
38 hemorrhagic proctocolitis 9.9 CTNNB1 GFAP
39 c-p angle neurinoma 9.9 GFAP SMARCB1
40 heavy chain disease 9.9 CTNNB1 GFAP
41 breasts and/or nipples, aplasia or hypoplasia of, 2 9.9 GLI1 GLI2 PTCH1 SUFU
42 prostate rhabdomyosarcoma 9.9 GLI1 PTCH1
43 caroli disease 9.8 CTNNB1 PTCH1
44 herpes simplex encephalitic 6 9.8 CTNNB1 PTCH1
45 temporal lobe neoplasm 9.8 CTNNB1 GFAP SMARCB1
46 clear cell variant infiltrating bladder urothelial carcinoma 9.8 GFAP PTCH1 SMARCB1 SUFU
47 orofaciodigital syndrome iv 9.8 GFAP PTCH1 SMARCB1 SUFU
48 ectodermal dysplasia 9.7
49 down syndrome 9.7
50 atypical teratoid rhabdoid tumor 9.7

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 CTNNB1 GFAP GLI1 GLI2 PTCH1 SMARCB1
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 GLI2 PTCH1 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 GLI1 GLI2 PTCH1 SMARCB1 SUFU CTNNB1
9 limbs/digits/tail MP:0005371 9.85 CTNNB1 GLI1 GLI2 PTCH1 SUFU
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 GLI2 PTCH1 SUFU CTNNB1 GLI1
13 normal MP:0002873 9.63 CTNNB1 GFAP GLI1 GLI2 PTCH1 SUFU
14 respiratory system MP:0005388 9.35 CTNNB1 GLI1 GLI2 PTCH1 SUFU
15 vision/eye MP:0005391 9.1 GFAP GLI2 PTCH1 SMARCB1 SUFU CTNNB1

Drugs & Therapeutics for Nodular Medulloblastoma

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

(show all 29)
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 54575, 6560146 143
11 Alkylating Agents Phase 2
12 Antimetabolites Phase 2
13 Antimetabolites, Antineoplastic Phase 2
14 Antimitotic Agents Phase 2
15 Antineoplastic Agents, Alkylating Phase 2
16 Antineoplastic Agents, Phytogenic Phase 2
17 Antirheumatic Agents Phase 2
18 Dermatologic Agents Phase 2
19 Etoposide phosphate Phase 2
20 Folic Acid Antagonists Phase 2
21 Immunosuppressive Agents Phase 2
22 Nucleic Acid Synthesis Inhibitors Phase 2
23 Topoisomerase Inhibitors Phase 2
24 Vitamin B Complex Phase 2
25
Erlotinib Hydrochloride Phase 2 183319-69-9 176871
26 Protein Kinase Inhibitors Phase 2
27 topoisomerase I inhibitors Phase 2
28 Folate Nutraceutical Phase 2
29 Vitamin B9 Nutraceutical Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase
1 Combination Chemotherapy in Treating Younger Patients With Newly Diagnosed, Non-Metastatic Desmoplastic Medulloblastoma Completed NCT02017964 Phase 2
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

Search NIH Clinical Center for Nodular Medulloblastoma

Genetic Tests for Nodular Medulloblastoma

Anatomical Context for Nodular Medulloblastoma

Publications for Nodular Medulloblastoma

Articles related to Nodular Medulloblastoma:

id Title Authors Year
1
SHH desmoplastic/nodular medulloblastoma and Gorlin syndrome in the setting of Down syndrome: case report, molecular profiling, and review of the literature. ( 27444290 )
2016
2
Recurrent Cerebellar Desmoplastic/Nodular Medulloblastoma in Cerebrospinal Fluid (CSF) in the Elderly. A Cytologic Diagnosis. ( 27352444 )
2016
3
Clinical, pathological, and molecular data on desmoplastic/nodular medulloblastoma: case studies and a review of the literature. ( 26857864 )
2016
4
Cavernous angioma after chemotherapy for desmoplastic/nodular medulloblastoma associated with anhidrotic ectodermal dysplasia. ( 26231569 )
2015
5
Ovarian primitive-type neuroectodermal tumour composed of desmoplastic/nodular medulloblastoma-like and atypical teratoid/rhabdoid tumour components. ( 26383534 )
2015
6
High frequency of germline SUFU mutations in children with desmoplastic/nodular medulloblastoma younger than 3 years of age. ( 22508808 )
2012
7
Atypical teratoid rhabdoid tumor mimicking beta-catenin-positive nodular medulloblastoma. ( 21229255 )
2011
8
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 38)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.98 CTNNB1 GLI1 GLI2 SMARCB1
2 cell differentiation GO:0030154 9.96 CTNNB1 GLI1 GLI2 SMARCB1
3 negative regulation of transcription from RNA polymerase II promoter GO:0000122 9.94 CTNNB1 GLI2 PTCH1 SUFU
4 positive regulation of transcription, DNA-templated GO:0045893 9.92 CTNNB1 GLI1 GLI2 PTCH1
5 in utero embryonic development GO:0001701 9.8 CTNNB1 GLI2 PTCH1
6 skeletal system development GO:0001501 9.74 CTNNB1 GLI2 SUFU
7 lung development GO:0030324 9.71 CTNNB1 GLI1 GLI2
8 negative regulation of sequence-specific DNA binding transcription factor activity GO:0043433 9.67 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 smoothened signaling pathway GO:0007224 9.67 GLI1 GLI2 PTCH1
12 pattern specification process GO:0007389 9.66 GLI2 PTCH1
13 skin development GO:0043588 9.65 CTNNB1 SUFU
14 branching involved in ureteric bud morphogenesis GO:0001658 9.65 CTNNB1 PTCH1
15 positive regulation of DNA replication GO:0045740 9.65 GLI1 GLI2
16 negative regulation of osteoblast differentiation GO:0045668 9.64 PTCH1 SUFU
17 pituitary gland development GO:0021983 9.63 GLI1 GLI2
18 mammary gland development GO:0030879 9.63 GLI2 PTCH1
19 renal system development GO:0072001 9.61 CTNNB1 PTCH1
20 hindbrain development GO:0030902 9.61 CTNNB1 GLI2
21 spinal cord motor neuron differentiation GO:0021522 9.6 GLI2 PTCH1
22 negative regulation of smoothened signaling pathway GO:0045879 9.59 PTCH1 SUFU
23 cell fate determination GO:0001709 9.58 CTNNB1 PTCH1
24 negative regulation of chondrocyte differentiation GO:0032331 9.58 CTNNB1 GLI2
25 regulation of osteoblast differentiation GO:0045667 9.56 CTNNB1 GLI1
26 dorsal/ventral neural tube patterning GO:0021904 9.55 GLI2 PTCH1
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 spinal cord dorsal/ventral patterning GO:0021513 9.48 GLI2 SUFU
30 cerebellar cortex morphogenesis GO:0021696 9.46 GLI1 GLI2
31 smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation GO:0021938 9.43 GLI1 GLI2
32 smoothened signaling pathway involved in ventral spinal cord interneuron specification GO:0021775 9.4 GLI2 SUFU
33 ventral midline development GO:0007418 9.37 GLI1 GLI2
34 proximal/distal pattern formation GO:0009954 9.33 CTNNB1 GLI1 GLI2
35 smoothened signaling pathway involved in spinal cord motor neuron cell fate specification GO:0021776 9.32 GLI2 SUFU
36 notochord regression GO:0060032 9.26 GLI1 GLI2
37 regulation of smoothened signaling pathway GO:0008589 9.13 GLI1 GLI2 PTCH1
38 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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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