Hirschsprung disease - ganglioneuroblastoma
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 6 |
| OrphanetNr: | 2151 |
| OMIM Id: |
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| ICD-10: |
Q43.1 |
| UMLs: |
C2751683 |
| MeSH: |
C538119 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
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| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Syndromic anorectal malformation
-Rare abdominal surgical disease -Rare developmental defect during embryogenesis -Rare genetic disease Syndromic intestinal malformation -Rare abdominal surgical disease -Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
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(HPO:0001357) | Plagiocephaly | Very frequent [Orphanet] | 106 / 7739 | |||
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(HPO:0000615) | Abnormality of the pupil | Very frequent [Orphanet] | 39 / 7739 | |||
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(HPO:0001250) | Seizures | Very frequent [Orphanet] | 1245 / 7739 | |||
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(HPO:0100006) | Neoplasm of the central nervous system | Very frequent [Orphanet] | 34 / 7739 | |||
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(HPO:0002251) | Aganglionic megacolon | Very frequent [Orphanet] | 78 / 7739 | |||
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(HPO:0011675) | Arrhythmia | Very frequent [Orphanet] | 226 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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