Neuroblastoma
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Neural crest tumor Sympathoblastoma |
| Number of Symptoms | 27 |
| OrphanetNr: | 635 |
| OMIM Id: |
256700
613013 613014 613015 613016 613017 |
| ICD-10: |
C47 |
| UMLs: |
C0027819 C2931189 |
| MeSH: |
C536408 D009447 |
| MedDRA: |
10029260 |
| Snomed: |
432328008 87364003 |
Prevalence, inheritance and age of onset:
| Prevalence: | 11.3 of 100 000 [Orphanet] |
| Inheritance: |
Not applicable [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Central nervous system primitive neuroectodermal tumor
-Rare neurologic disease -Rare oncologic disease |
Symptom Information:
|
|
(HPO:0001992) | Organic aciduria | Very frequent [Orphanet] | 28 / 7739 | |||
|
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(HPO:0011979) | Elevated urinary dopamine | 2 / 7739 | ||||
|
|
(HPO:0010543) | Opsoclonus | 2 / 7739 | ||||
|
|
(HPO:0002277) | Horner syndrome | 7 / 7739 | ||||
|
|
(HPO:0001336) | Myoclonus | 115 / 7739 | ||||
|
|
(HPO:0003005) | Ganglioneuroma | 6 / 7739 | ||||
|
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(HPO:0003006) | Neuroblastoma | 16 / 7739 | ||||
|
|
(HPO:0006747) | Ganglioneuroblastoma | 5 / 7739 | ||||
|
|
(HPO:0100006) | Neoplasm of the central nervous system | Very frequent [Orphanet] | 34 / 7739 | |||
|
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(HPO:0001251) | Ataxia | 413 / 7739 | ||||
|
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(HPO:0000765) | Abnormality of the thorax | 64 / 7739 | ||||
|
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(HPO:0002653) | Bone pain | 75 / 7739 | ||||
|
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(HPO:0002027) | Abdominal pain | 184 / 7739 | ||||
|
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(HPO:0002014) | Diarrhea | 225 / 7739 | ||||
|
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(HPO:0001824) | Weight loss | 42 / 7739 | ||||
|
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(HPO:0001508) | Failure to thrive | 454 / 7739 | ||||
|
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(HPO:0200036) | Skin nodule | 4 / 7739 | ||||
|
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(HPO:0000822) | Hypertension | 224 / 7739 | ||||
|
|
(HPO:0001903) | Anemia | 289 / 7739 | ||||
|
|
(HPO:0001945) | Fever | 218 / 7739 | ||||
|
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(HPO:0011978) | Elevated urinary vanillylmandelic acid | 2 / 7739 | ||||
|
|
(HPO:0011977) | Elevated urinary homovanillic acid | 2 / 7739 | ||||
|
|
(HPO:0003745) | Sporadic | 131 / 7739 | ||||
|
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(HPO:0002176) | Spinal cord compression | 15 / 7739 | ||||
|
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(HPO:0003829) | Incomplete penetrance | 85 / 7739 | ||||
|
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(HPO:0001425) | Heterogeneous | 132 / 7739 | ||||
|
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|