NBLST1
MCID: NRB010
MIFTS: 41
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Neuroblastoma 1 (NBLST1)
Categories:
Cancer diseases, Endocrine diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Neuroblastoma 1:
Characteristics:Inheritance:
Autosomal dominant 57
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
genetic heterogeneity incomplete penetrance 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 Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Cancer diseases Rare diseases Anatomical: Neuronal diseases Endocrine diseases Eye diseases Gastrointestinal diseases |
OMIM®: 57 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) (Updated 08-Dec-2022) MalaCards based summary: Neuroblastoma 1, also known as neuroblastoma, susceptibility to, 1, is related to neuroblastoma. An important gene associated with Neuroblastoma 1 is KIF1B (Kinesin Family Member 1B). Affiliated tissues include adrenal gland, bone marrow and spinal cord, and related phenotypes are failure to thrive and ataxia UniProtKB/Swiss-Prot: 73 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. |
Diseases in the Neuroblastoma family:
Diseases related to Neuroblastoma 1 via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to Neuroblastoma 1:30 (show all 22)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:256700 (Updated 08-Dec-2022)GenomeRNAi Phenotypes related to Neuroblastoma 1 according to GeneCards Suite gene sharing:25
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Organs/tissues related to Neuroblastoma 1:
MalaCards :
Adrenal Gland,
Bone Marrow,
Spinal Cord,
Bone,
Heart,
Testis,
Skin
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Articles related to Neuroblastoma 1:(show top 50) (show all 157)
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ClinVar genetic disease variations for Neuroblastoma 1:5
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Genes differentially expressed in tissues of Neuroblastoma 1 patients vs. healthy controls:
35
(show top 50)
(show all 640)
Search
GEO
for disease gene expression data for Neuroblastoma 1.
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