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NBLST1
MCID: NRB010
MIFTS: 49
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Neuroblastoma 1 (NBLST1)
Categories:
Cancer diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Neuroblastoma 1:
Characteristics:OMIM:56
Inheritance:
somatic mutation autosomal dominant
Miscellaneous:
incomplete penetrance genetic heterogeneity mean age of onset 14-24 months highly variable clinical phenotype symptoms vary according to location of tumor spontaneous tumor regression may occur usually sporadic, but 1-2% of cases are familial n-myc oncogene amplification is associated with poor prognosis HPO:31
neuroblastoma 1:
Inheritance autosomal dominant inheritance somatic mutation heterogeneous sporadic Onset and clinical course incomplete penetrance Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Cancer diseases Rare diseases Anatomical: Neuronal diseases Endocrine diseases |
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OMIM :
56
Neuroblastoma is the most common childhood cancer diagnosed before the age of 1 year, and accounts for 10 to 15% of all cancer deaths in children. Some patients inherit a genetic predisposition to neuroblastoma due to germline mutations, whereas others develop sporadic disease that may result from either germline or somatic mutations. Neuroblastoma tumors are derived from embryonic cells that form the primitive neural crest and give rise to the adrenal medulla and the sympathetic nervous system (Roberts et al., 1998; Eng, 2008). Histopathologically, neuroblastoma can range in type from the most aggressive form, neuroblastoma, composed entirely of immature neural precursor cells, to ganglioneuroma, composed entirely of mature neural tissue. The most important prognostic factor for patients with neuroblastoma is the extent of the tumor at the time of diagnosis (Roberts et al., 1998).
Neuroblastoma can also be part of cancer-prone syndromes, such as paragangliomas (see, e.g., PGL4; 115310).
(256700)
MalaCards based summary : Neuroblastoma 1, also known as nblst1, is related to neuroblastoma and alk-related neuroblastic tumor susceptibility. An important gene associated with Neuroblastoma 1 is KIF1B (Kinesin Family Member 1B), and among its related pathways/superpathways are Toll Comparative Pathway and Proteoglycans in cancer. The drugs 3-Iodobenzylguanidine and Radiopharmaceuticals have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and bone marrow, and related phenotypes are failure to thrive and fever UniProtKB/Swiss-Prot : 73 Neuroblastoma 1: A common neoplasm of early childhood arising from embryonic cells that form the primitive neural crest and give rise to the adrenal medulla and the sympathetic nervous system. |
Human phenotypes related to Neuroblastoma 1:31 (show all 22)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:256700MGI Mouse Phenotypes related to Neuroblastoma 1:45
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Drugs for Neuroblastoma 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
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MalaCards organs/tissues related to Neuroblastoma 1:40
Bone,
Skin,
Bone Marrow,
Spinal Cord,
Adrenal Gland,
Brain,
Heart
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Articles related to Neuroblastoma 1:(show top 50) (show all 155)
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Genes related to Neuroblastoma 1 (6 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Neuroblastoma 1:6 (show top 50) (show all 302)
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Search
GEO
for disease gene expression data for Neuroblastoma 1.
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Biological processes related to Neuroblastoma 1 according to GeneCards Suite gene sharing:
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