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Items: 11

1.

Medulloblastoma

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 years and 8 and 9 years of age. Approximately 10 to 15% of medulloblastomas are diagnosed in infancy. Medulloblastoma accounts for less than 1% of central nervous system (CNS) tumors in adults, with highest incidence in adults 20 to 34 years of age. In 1 to 2% of patients, medulloblastoma is associated with Gorlin syndrome (109400), a nevoid basal carcinoma syndrome. Medulloblastoma also occurs in up to 40% of patients with Turcot syndrome (276300). Medulloblastoma is thought to arise from neural stem cell precursors in the granular cell layer of the cerebellum. Standard treatment includes surgery, chemotherapy, and, depending on the age of the patient, radiation therapy (Crawford et al., 2007). [from OMIM]

MedGen UID:
7517
Concept ID:
C0025149
Neoplastic Process
2.

KTS; Vascular overgrowth

MedGen UID:
851801
Concept ID:
CN233165
Finding
3.

Medulloblastoma

A rapidly growing embryonic tumor arising in the posterior part of the cerebellar vermis and neuroepithelial roof of the fourth ventricle in children. More rarely, medulloblastoma arises in the cerebellum in adults. [from HPO]

MedGen UID:
505388
Concept ID:
CN002609
Finding
4.

Mandibuloacral dysostosis

Mandibuloacral dysplasia with type A lipodystrophy (MADA) is an autosomal recessive disorder characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk. Some patients may show progeroid features. Metabolic complications can arise due to insulin resistance and diabetes (Young et al., 1971; Simha and Garg, 2002; summary by Garavelli et al., 2009). See also MAD type B (MADB; 608612), which is caused by mutation in the ZMPSTE24 gene (606480). [from OMIM]

MedGen UID:
98485
Concept ID:
C0432291
Congenital Abnormality; Disease or Syndrome
5.

Neoplasm of brain

A benign or malignant neoplasm that arises from or metastasizes to the brain. [from NCI]

MedGen UID:
14216
Concept ID:
C0006118
Neoplastic Process
6.

Ependymoblastoma

An aggressive malignant embryonal neoplasm arising from the central nervous system. It is characterized by the presence of multilayered rosettes formation, and increased cellularity. Symptoms include increased intracranial pressure, hydrocephalus, and focal neurological signs. [from NCI]

MedGen UID:
152150
Concept ID:
C0700367
Neoplastic Process
7.

Medulloepithelioma

A rare, unilateral, benign or malignant embryonic neoplasm typically presenting as a cilliary body mass during childhood. It is composed of medullary epithelial cells. [from NCI]

MedGen UID:
87272
Concept ID:
C0334596
Neoplastic Process
8.

Neuroepithelial neoplasm

Neoplasms composed of neuroepithelial cells, which have the capacity to differentiate into NEURONS, oligodendrocytes, and ASTROCYTES. The majority of craniospinal tumors are of neuroepithelial origin. (From Dev Biol 1998 Aug 1;200(1):1-5) [from MeSH]

MedGen UID:
60215
Concept ID:
C0206715
Neoplastic Process
9.

Neuroectodermal neoplasm

A tumor of the central or peripheral nervous system. [from NCI]

MedGen UID:
60072
Concept ID:
C0206093
Neoplastic Process
10.

Nervous tissue neoplasm

Neoplasms composed of nerve tissue. This concept does not refer to neoplasms located in the nervous system or its component nerves. [from MeSH]

MedGen UID:
14324
Concept ID:
C0027665
Neoplastic Process
11.

Glioma

A general term for many types of tumors of the central nervous system [from CHV]

MedGen UID:
9030
Concept ID:
C0017638
Neoplastic Process
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