Neuroblastoma, susceptibility to, 1

Preferred Label : Neuroblastoma, susceptibility to, 1;

Symbol : NBLST1;

CISMeF acronym : NBLST1;

Type : Phenotype, molecular basis known;

Included titles and symbols : Neuroblastoma, susceptibility to;

Description : 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). - Genetic Heterogeneity of Susceptibility to Neuroblastoma Susceptibility to neuroblastoma is genetically heterogeneous and is conferred by mutation in the PHOX2B gene (603851) on chromosome 4p12 (NBLST2; 613013) and by mutation in the ALK gene (105590) on chromosome 2p23 (NBLST3; 613014). Loci implicated in the development of neuroblastoma include 6p (NBLST4; 613015), 2q35 (NBLST5; 613016), and 1q21 (NBLST6; 613017).;

Inheritance : Autosomal dominant; Somatic mutation;

Molecular basis : Susceptibility conferred by mutation in the kinesin family member 1B gene (KIF1B, 605995.0002).;

Neoplasia : Neuroblastoma, arises anywhere along the sympathetic chain (including intracranially); Adrenal glands are most common site; Ganglioneuroblastoma; Ganglioneuroma;

Laboratory abnormalities : Increased urinary catecholamines; Increased urinary homovanillic acid (HVA); Increased urinary vanillylmandelic acid (VMA); Increased urinary dopamine; Tumor may secrete vasoactive intestinal peptide (VIP);

Prefixed ID : #256700;

Details

Origin ID

256700;

UMLS CUI

C2749485;

Automatic exact mappings (from CISMeF team)
- KIF1B wt Allele [NCIt concept]
Broader ORDO disease(s)
- Neuroblastoma [ORDO Disease]
Genes related to phenotype
- Kinesin family member 1b [OMIM gene]
HPO term(s)
- Abdominal mass [HPO term]
- Abdominal pain [HPO term]
- Abnormal thorax morphology [HPO term]
- Abnormality of urine catecholamine level [HPO term]
- Anemia [HPO term]
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bone pain [HPO term]
- Diarrhea [HPO term]
- Elevated urinary catecholamines [HPO term]
- Elevated urinary dopamine [HPO term]
- Elevated urinary homovanillic acid [HPO term]
- Elevated urinary vanillylmandelic acid [HPO term]
- Failure to thrive [HPO term]
- Fever [HPO term]
- Ganglioneuroblastoma [HPO term]
- Ganglioneuroma [HPO term]
- Heterogeneous [HPO term]
- Horner syndrome [HPO term]
- Hypertension [HPO term]
- Incomplete penetrance [HPO term]
- Isolated cases [HPO term]
- Myoclonus [HPO term]
- Neuroblastoma [HPO term]
- Neuroblastoma, arises anywhere along the sympathetic chain [HPO term]
- Opsoclonus [HPO term]
- Skin nodule [HPO term]
- Somatic mutation [HPO term]
- Spinal cord compression [HPO term]
- Sporadic [HPO term]
- Weight loss [HPO term]
ORDO concept(s)
- Neuroblastoma [ORDO Disease]
Semantic type(s)
- Finding [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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