Medulloblastoma with extensive nodularity

General Information (adopted from Orphanet):

Synonyms, Signs: MEDULLOBLASTOMA WITH EXTENSIVE NODULARITY, INCLUDED
MBEN, INCLUDED
MDB MEDULLOBLASTOMA, DESMOPLASTIC, INCLUDED
Cerebellar neuroblastoma
Number of Symptoms 4
OrphanetNr: 251858
OMIM Id: 155255
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Not applicable
[Orphanet]
Age of onset: Infancy
Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Medulloblastoma
 -Rare neurologic disease
 -Rare oncologic disease

Symptom Information: Sort by abundance 

1
(HPO:0002885) Medulloblastoma 20 / 7739
2
(OMIM) Loss of heterozygosity for 17p sequences in 45% of medulloblastomas 4 / 7739
3
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
4
(OMIM) Isochromosome 17q frequent in cytogenetic studies 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Medulloblastoma is the most common brain tumor in children. It accounts for 16% of all pediatric brain tumors, and 40% of all cerebellar tumors in childhood are medulloblastoma. Medulloblastoma occurs bimodally, with peak incidences between 3 and 4 ...
Clinical Description OMIM Crawford et al. (2007) reviewed medulloblastoma, with a focus on clinical presentation, diagnosis, and treatment.

Cerebellar medulloblastoma is a feature of basal cell nevus syndrome (109400), von Hippel-Lindau syndrome (193300), and familial adenomatous polyposis (175100). In ...

Molecular genetics OMIM - BRCA2 Mutations in Medulloblastomas

In 2 brothers who developed Wilms tumor (194070) and brain tumors, Reid et al. (2005) identified 2 truncating BRCA2 mutations (600185.0027 and 600185.0031). One boy had recurrent medulloblastoma.

- ...