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Items: 11

1.

Neuroblastoma

ALK-related neuroblastic tumor susceptibility results from heterozygosity for a germline ALK activating pathogenic variant in the tyrosine kinase domain that predisposes to neuroblastic tumors. The spectrum of neuroblastic tumors includes neuroblastoma, ganglioneuroblastoma, and ganglioneuroma. Neuroblastoma is a more malignant tumor and ganglioneuroma a more benign tumor. Depending on the histologic findings ganglioneuroblastoma can behave in a more aggressive fashion, like neuroblastoma, or in a benign fashion, like ganglioneuroma. At present there are no data regarding the lifetime risk to an individual with a germline ALK pathogenic variant of developing a neuroblastic tumor. Preliminary data from the ten reported families with ALK-related neuroblastic tumor susceptibility suggest that the overall penetrance is around 57% with the risk for neuroblastic tumor development highest in infancy and decreasing by late childhood. [from GeneReviews]

MedGen UID:
18012
Concept ID:
C0027819
Neoplastic Process
2.

Neuroblastoma

Neuroblastoma is a malignant tumor of neural crest cells, the cells that give rise to the sympathetic nervous system, which is observed in children. [from ORDO]

MedGen UID:
798120
Concept ID:
CN205405
Disease or Syndrome
3.

Neuroblastoma

Neuroblastoma is a solid tumor that originate in neural crest cells of the sympathetic nervous system. Most neuroblastomas originate in the abdomen, and most abdominal neuroblastomas originate in the adrenal gland. Neuroblastomas can also originate in the thorax, usually in the posterior mediastinum. [from HPO]

MedGen UID:
505432
Concept ID:
CN002717
Finding
4.

ATR-X syndrome

Alpha-thalassemia X-linked intellectual disability (ATRX) syndrome is characterized by distinctive craniofacial features, genital anomalies, severe developmental delays, hypotonia, intellectual disability, and mild-to-moderate anemia secondary to alpha-thalassemia. Craniofacial abnormalities include small head circumference, telecanthus or widely spaced eyes, short nose, tented vermilion of the upper lip, and thick or everted vermilion of the lower lip with coarsening of the facial features over time. Although all affected individuals have a normal 46,XY karyotype, genital anomalies range from hypospadias and undescended testicles to severe hypospadias and ambiguous genitalia, to normal-appearing female external genitalia. Global developmental delays are evident in infancy and some affected individuals never walk independently or develop significant speech. [from GeneReviews]

MedGen UID:
337145
Concept ID:
C1845055
Disease or Syndrome
5.

Ependymoblastoma

A highly malignant embryonal tumor of infancy and young childhood characterized by neuroectodermal elements organized in distinctive multilayered rosettes. Ependymoblastomas are large lesions that occur in the supratentorial compartment, typically displaying a physical connection to the ventricular system. [from HPO]

MedGen UID:
152150
Concept ID:
C0700367
Neoplastic Process
6.

Peripheral neuroepithelioma

The Ewing sarcoma family of tumors (primitive neuroectodermal tumors; PNET) comprise morphologically heterogeneous tumors that are characterized by nonrandom chromosomal translocations involving the EWS gene on chromosome 22q12 and one of several members of the ETS family of transcription factors. The tumors include Ewing sarcoma, peripheral neuroepithelioma, and Askin tumor. In approximately 90% of cases of ESFT, the FLI1 gene (193067) on chromosome 11 is the fusion partner of EWS; in approximately 10%, the EWS fusion partner is the ERG gene (165080) on chromosome 22. Many other ETS family members have been identified as fusion partners of EWS, but these cases are rare (Khoury, 2005). [from OMIM]

MedGen UID:
151926
Concept ID:
C0684337
Neoplastic Process
7.

Medulloepithelioma

A primitive neuroectodermal tumor that originates from the cells of the embryonic medullary canal. [from HPO]

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 neoplasm arising in the neuroectoderm, the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems, including some glial cells. [from HPO]

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

Nervous tissue neoplasm

A neoplasm derived from nervous tissue (not necessarity a neoplasm located in the nervous system). [from HPO]

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

Aging

Progressive damage to mitochondrial DNA (mtDNA) during life is thought to contribute to aging processes. This notion is supported by the observation of an aging-related accumulation in human mtDNA of oxidative and alkylation derivatives of nucleotides, of small deletions and insertions, and of large deletions, although their low frequency raises questions about their functional significance (Michikawa et al., 1999). [from OMIM]

MedGen UID:
1376
Concept ID:
C0001811
Organism Function
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