MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Disease Browser
Parent Node:
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Neuroectodermal Tumors, Primitive, Peripheral (D018241)
..Starting node
..expand
Neuroblastoma (D009447)

       Child Nodes:
........expandEsthesioneuroblastoma, Olfactory (D018304)
........expandGanglioneuroblastoma (D018305) Child1



 Sister Nodes: 
..expandNeuroblastoma (D009447) Child3
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:8772
Name:Neuroblastoma
Definition:A common neoplasm of early childhood arising from neural crest cells in the sympathetic nervous system, and characterized by diverse clinical behavior, ranging from spontaneous remission to rapid metastatic progression and death. This tumor is the most common intraabdominal malignancy of childhood, but it may also arise from thorax, neck, or rarely occur in the central nervous system. Histologic features include uniform round cells with hyperchromatic nuclei arranged in nests and separated by fibrovascular septa. Neuroblastomas may be associated with the opsoclonus-myoclonus syndrome. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2099-2101; Curr Opin Oncol 1998 Jan;10(1):43-51)
Alternative IDs:DO:DOID:769|OMIM:256700|OMIM:613013|OMIM:613014|OMIM:613015|OMIM:613016|OMIM:613017
ParentIDs:MESH:D018241
TreeNumbers:C04.557.465.625.600.590.650.550 |C04.557.470.670.590.650.550 |C04.557.580.625.600.590.650.550
Synonyms:NBLST1, INCLUDED |NBLST2 |NBLST3 |NBLST4 |NBLST5 |NBLST6 |Neuroblastomas |NEUROBLASTOMA, SUSCEPTIBILITY TO |NEUROBLASTOMA, SUSCEPTIBILITY TO, 1, INCLUDED |NEUROBLASTOMA, SUSCEPTIBILITY TO, 2 |NEUROBLASTOMA, SUSCEPTIBILITY TO, 3 |NEUROBLASTOMA, SUSCEPTIBILITY TO, 4 |
Slim Mappings:Cancer
Reference: MedGen: D009447
MeSH: D009447
OMIM: 256700;
MSeqDR LSDB:  
Genes: ALK; KIF1B; NME1; PHOX2B;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0002027Abdominal pain
3 HP:0000765Abnormality of the thorax
4 HP:0001903Anemia
5 HP:0001251Ataxia
6 HP:0002653Bone pain
7 HP:0002014Diarrhea
8 HP:0011979Elevated urinary dopamine
9 HP:0011977Elevated urinary homovanillic acid
10 HP:0011978Elevated urinary vanillylmandelic acid
11 HP:0001508Failure to thrive
12 HP:0001945Fever
13 HP:0006747Ganglioneuroblastoma
14 HP:0003005Ganglioneuroma
15 HP:0001425Heterogeneous
16 HP:0002277Horner syndrome
17 HP:0000822Hypertension
18 HP:0003829Incomplete penetrance
19 HP:0001336Myoclonus
NAMDC:  Myoclonus
20 HP:0003006Neuroblastoma
21 HP:0010543Opsoclonus
22 HP:0200036Skin nodule
23 HP:0002176Spinal cord compression
24 HP:0003745Sporadic
25 HP:0001824Weight loss
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001365951.3(KIF1B):c.2075A>T (p.Glu692Val)23095KIF1Brisk factorrs121908161RCV000004922; NMONDO:MONDO:0009741,MedGen:C2749485,OMIM:25670011035726410357264AT1:g.10357264A>TClinGen:CA116987,OMIM:605995.0002C2749485 Neuroblastoma 1;
NM_001365951.3(KIF1B):c.2618C>T (p.Thr873Ile)23095KIF1BConflicting interpretations of pathogenicityrs121908162RCV000004923|RCV000198737|RCV001098679|RCV001173590|RCV001269366|RCV001770032; NMONDO:MONDO:0009741,MedGen:C2749485,OMIM:256700|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746|Human Phenotype Ontology:HP:0003006,Human Phenotype Ontology:HP:0006738,MONDO:MONDO:0005072,MeSH:D009447,MedGen:C0027819, Orphanet:635|MONDO:MONDO:0015626,11038489610384896CT1:g.10384896C>TClinGen:CA116990,OMIM:605995.0003C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001365951.3(KIF1B):c.3787C>T (p.Pro1263Ser)23095KIF1BConflicting interpretations of pathogenicityrs121908163RCV000004924|RCV000490400|RCV000865916; NMONDO:MONDO:0009741,MedGen:C2749485,OMIM:256700|Human Phenotype Ontology:HP:0003006,Human Phenotype Ontology:HP:0006738,MONDO:MONDO:0005072,MeSH:D009447,MedGen:C0027819, Orphanet:635|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:6474611040600110406001CT1:g.10406001C>TClinGen:CA116993,OMIM:605995.0004C0027819 256700 Neuroblastoma;
NM_001365951.3(KIF1B):c.4580G>A (p.Ser1527Asn)23095KIF1BPathogenic; risk factorrs121908164RCV000004925|RCV000004926; NHuman Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072|MONDO:MONDO:0009741,MedGen:C2749485,OMIM:25670011042553410425534GA1:g.10425534G>AClinGen:CA116996,OMIM:605995.0005C2749485 Neuroblastoma 1;
MSeqDR Portal