Thoraco-abdominal enteric duplication
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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13
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OrphanetNr:
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1759
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OMIM Id:
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ICD-10:
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Q43.4
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UMLs:
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MeSH:
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MedDRA:
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Snomed:
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Prevalence, inheritance and age of onset:
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Prevalence:
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No data available.
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Inheritance:
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Age of onset:
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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Syndromic intestinal malformation
-Rare abdominal surgical disease
-Rare developmental defect during embryogenesis
-Rare genetic disease
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1
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(HPO:0002817)
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Abnormality of the upper limb |
Very frequent [Orphanet]
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25 / 7739
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2
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(HPO:0002435)
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Meningocele |
Very frequent [Orphanet]
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23 / 7739
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3
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(HPO:0000921)
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Missing ribs |
Very frequent [Orphanet]
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62 / 7739
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4
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(HPO:0100490)
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Camptodactyly of finger |
Very frequent [Orphanet]
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212 / 7739
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5
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(HPO:0002240)
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Hepatomegaly |
Very frequent [Orphanet]
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467 / 7739
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6
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(HPO:0002566)
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Intestinal malrotation |
Very frequent [Orphanet]
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89 / 7739
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7
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(HPO:0100867)
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Duodenal stenosis |
Very frequent [Orphanet]
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29 / 7739
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8
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(HPO:0007477)
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Abnormal dermatoglyphics |
Very frequent [Orphanet]
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72 / 7739
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9
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(HPO:0001702)
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Abnormality of the tricuspid valve |
Very frequent [Orphanet]
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32 / 7739
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10
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(HPO:0001651)
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Dextrocardia |
Very frequent [Orphanet]
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38 / 7739
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11
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(HPO:0002093)
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Respiratory insufficiency |
Very frequent [Orphanet]
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410 / 7739
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12
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(HPO:0100563)
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Diastomatomyelia |
Very frequent [Orphanet]
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4 / 7739
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13
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(HPO:0011420)
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Death |
Very frequent [Orphanet]
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184 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |