MCID: NDL005
MIFTS: 33

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 46 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 atypical teratoid rhabdoid tumor, and has symptoms including gait ataxia, vomiting 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. 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 55)
# Related Disease Score Top Affiliating Genes
1 medulloblastoma 29.9 CTNNB1 GFAP GLI1 PTCH1 SMARCB1 SUFU
2 atypical teratoid rhabdoid tumor 29.0 CTNNB1 GFAP SMARCB1
3 neurilemmomatosis 10.2 SMARCB1 SUFU
4 cerebellum cancer 10.2 PTCH1 SUFU
5 split-hand/foot malformation 3 10.1 GLI1 SUFU
6 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 10.1 GLI1 GLI2
7 holoprosencephaly, recurrent infections, and monocytosis 10.1 GLI2 PTCH1
8 calcifying epithelial odontogenic tumor 10.1 GLI2 PTCH1
9 septopreoptic holoprosencephaly 10.1 GLI2 PTCH1
10 midline interhemispheric variant of holoprosencephaly 10.1 GLI2 PTCH1
11 pallister-hall syndrome 10.1 GLI1 GLI2
12 alobar holoprosencephaly 10.1 GLI2 PTCH1
13 lobar holoprosencephaly 10.1 GLI2 PTCH1
14 chondroma 10.1 CTNNB1 GLI1
15 semilobar holoprosencephaly 10.1 GLI2 PTCH1
16 pilomyxoid astrocytoma 10.0 GFAP SUFU
17 bardet-biedl syndrome 17 10.0 GLI2 PTCH1
18 birt-hogg-dube syndrome 10.0 CTNNB1 PTCH1
19 organ system benign neoplasm 9.9 CTNNB1 SMARCB1
20 melanotic medulloblastoma 9.9 GFAP SMARCB1
21 rhabdoid meningioma 9.9 GFAP SMARCB1
22 cerebral ventricle cancer 9.9 GFAP SMARCB1
23 cerebrum cancer 9.9 GFAP SMARCB1
24 supratentorial cancer 9.9 GFAP SMARCB1
25 pleomorphic xanthoastrocytoma 9.9 GFAP SMARCB1
26 microform holoprosencephaly 9.9 GLI2 PTCH1 SUFU
27 tanycytic ependymoma 9.9 GFAP SMARCB1
28 childhood medulloblastoma 9.9 GLI2 PTCH1 SUFU
29 hemimegalencephaly 9.9 CTNNB1 GFAP
30 choroid plexus cancer 9.9 GFAP SMARCB1
31 cerebellopontine angle tumor 9.8 GFAP SMARCB1
32 medullomyoblastoma 9.8 GFAP SMARCB1
33 brain germinoma 9.8 GFAP SMARCB1
34 keratocystic odontogenic tumor 9.8 GLI1 PTCH1 SUFU
35 embryonal rhabdomyosarcoma 9.8 GLI1 PTCH1
36 ganglioglioma 9.8 GFAP SMARCB1
37 myoepithelioma 9.8 GFAP SMARCB1
38 neurilemmoma 9.7 GFAP SMARCB1
39 integumentary system cancer 9.7 GLI1 GLI2 PTCH1
40 down syndrome 9.7
41 aging 9.7
42 rhabdoid tumor predisposition syndrome 1 9.7
43 microcephaly, epilepsy, and diabetes syndrome 9.7
44 ectodermal dysplasia 9.7
45 ameloblastoma 9.7 GLI1 PTCH1
46 neuroma 9.6 GFAP SMARCB1
47 pancreas adenocarcinoma 9.6 CTNNB1 GLI1
48 basal cell nevus syndrome 9.5 GLI1 GLI2 PTCH1 SUFU
49 cerebellar liponeurocytoma 9.2 GFAP PTCH1 SMARCB1 SUFU
50 meningioma, familial 9.2 GFAP PTCH1 SMARCB1 SUFU

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:


gait ataxia, vomiting, headache

MGI Mouse Phenotypes related to Nodular Medulloblastoma:

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

Drugs & Therapeutics for Nodular Medulloblastoma

Search Clinical Trials , 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:

# Title Authors Year
1
Desmoplastic Nodular Medulloblastoma in Young Children: A Management Dilemma. ( 29156007 )
2017
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
Recurrent Cerebellar Desmoplastic/Nodular Medulloblastoma in Cerebrospinal Fluid (CSF) in the Elderly. A Cytologic Diagnosis. ( 27352444 )
2016
5
Clinical, pathological, and molecular data on desmoplastic/nodular medulloblastoma: case studies and a review of the literature. ( 26857864 )
2016
6
Cavernous angioma after chemotherapy for desmoplastic/nodular medulloblastoma associated with anhidrotic ectodermal dysplasia. ( 26231569 )
2015
7
Ovarian primitive-type neuroectodermal tumour composed of desmoplastic/nodular medulloblastoma-like and atypical teratoid/rhabdoid tumour components. ( 26383534 )
2015
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

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 all 39)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 9.97 CTNNB1 GLI1 GLI2 SMARCB1
2 negative regulation of transcription by RNA polymerase II GO:0000122 9.95 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 9.72 CTNNB1 GLI1 GLI2
7 negative regulation of DNA binding transcription factor activity GO:0043433 9.68 PTCH1 SUFU
8 embryonic digit morphogenesis GO:0042733 9.68 CTNNB1 GLI2
9 odontogenesis of dentin-containing tooth GO:0042475 9.67 CTNNB1 GLI2
10 pattern specification process GO:0007389 9.67 GLI2 PTCH1
11 skin development GO:0043588 9.66 CTNNB1 SUFU
12 negative regulation of osteoblast differentiation GO:0045668 9.66 PTCH1 SUFU
13 branching involved in ureteric bud morphogenesis GO:0001658 9.65 CTNNB1 PTCH1
14 positive regulation of DNA replication GO:0045740 9.65 GLI1 GLI2
15 smoothened signaling pathway GO:0007224 9.65 GLI1 GLI2 PTCH1
16 liver regeneration GO:0097421 9.64 GLI1 PTCH1
17 mammary gland development GO:0030879 9.64 GLI2 PTCH1
18 pituitary gland development GO:0021983 9.63 GLI1 GLI2
19 renal system development GO:0072001 9.62 CTNNB1 PTCH1
20 hindbrain development GO:0030902 9.61 CTNNB1 GLI2
21 negative regulation of smoothened signaling pathway GO:0045879 9.61 PTCH1 SUFU
22 spinal cord motor neuron differentiation GO:0021522 9.6 GLI2 PTCH1
23 negative regulation of chondrocyte differentiation GO:0032331 9.59 CTNNB1 GLI2
24 cell fate determination GO:0001709 9.58 CTNNB1 PTCH1
25 dorsal/ventral neural tube patterning GO:0021904 9.57 GLI2 PTCH1
26 regulation of osteoblast differentiation GO:0045667 9.56 CTNNB1 GLI1
27 smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:0060831 9.54 GLI2 PTCH1
28 mammary gland duct morphogenesis GO:0060603 9.52 GLI2 PTCH1
29 cerebellar cortex morphogenesis GO:0021696 9.51 GLI1 GLI2
30 spinal cord dorsal/ventral patterning GO:0021513 9.49 GLI2 SUFU
31 smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation GO:0021938 9.46 GLI1 GLI2
32 ventral midline development GO:0007418 9.43 GLI1 GLI2
33 proximal/distal pattern formation GO:0009954 9.43 CTNNB1 GLI1 GLI2
34 smoothened signaling pathway involved in ventral spinal cord interneuron specification GO:0021775 9.4 GLI2 SUFU
35 smoothened signaling pathway involved in spinal cord motor neuron cell fate specification GO:0021776 9.37 GLI2 SUFU
36 regulation of smoothened signaling pathway GO:0008589 9.33 GLI1 GLI2 PTCH1
37 notochord regression GO:0060032 9.32 GLI1 GLI2
38 prostate gland development GO:0030850 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:

# 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 proximal promoter 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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