Diffuse neonatal hemangiomatosis
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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21
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OrphanetNr:
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2123
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OMIM Id:
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ICD-10:
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D18.0
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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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<
70
cases
[Orphanet]
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Inheritance:
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Not applicable
[Orphanet]
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Age of onset:
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Neonatal
[Orphanet]
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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Vascular tumor
-Rare circulatory system disease
-Rare developmental defect during embryogenesis
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1
|
(HPO:0008678)
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Renal hypoplasia/aplasia |
Very frequent [Orphanet]
|
|
|
|
127 / 7739
|
|
2
|
(HPO:0000083)
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Renal insufficiency |
Very frequent [Orphanet]
|
|
|
|
232 / 7739
|
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3
|
(HPO:0000045)
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Abnormality of the scrotum |
Very frequent [Orphanet]
|
|
|
|
14 / 7739
|
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4
|
(HPO:0000929)
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Abnormality of the skull |
Very frequent [Orphanet]
|
|
|
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53 / 7739
|
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5
|
(HPO:0001789)
|
Hydrops fetalis |
Very frequent [Orphanet]
|
|
|
|
63 / 7739
|
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6
|
(HPO:0001622)
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Premature birth |
Very frequent [Orphanet]
|
|
|
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100 / 7739
|
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7
|
(HPO:0001561)
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Polyhydramnios |
Very frequent [Orphanet]
|
|
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191 / 7739
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8
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(HPO:0001197)
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Abnormality of prenatal development or birth |
Very frequent [Orphanet]
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|
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9 / 7739
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9
|
(HPO:0001541)
|
Ascites |
Very frequent [Orphanet]
|
|
|
|
94 / 7739
|
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10
|
(HPO:0002240)
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Hepatomegaly |
Very frequent [Orphanet]
|
|
|
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467 / 7739
|
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11
|
(HPO:0100761)
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Visceral angiomatosis |
Very frequent [Orphanet]
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|
|
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21 / 7739
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12
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(HPO:0001052)
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Nevus flammeus |
Very frequent [Orphanet]
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|
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88 / 7739
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13
|
(HPO:0001643)
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Patent ductus arteriosus |
Very frequent [Orphanet]
|
|
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|
228 / 7739
|
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14
|
(HPO:0030680)
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Abnormality of cardiovascular system morphology |
Very frequent [Orphanet]
|
|
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355 / 7739
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15
|
(HPO:0001873)
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Thrombocytopenia |
Very frequent [Orphanet]
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|
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224 / 7739
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16
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(HPO:0001928)
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Abnormality of coagulation |
Very frequent [Orphanet]
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|
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44 / 7739
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17
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(HPO:0001903)
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Anemia |
Very frequent [Orphanet]
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289 / 7739
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18
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(HPO:0001939)
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Abnormality of metabolism/homeostasis |
Very frequent [Orphanet]
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|
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328 / 7739
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19
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(HPO:0003072)
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Hypercalcemia |
Very frequent [Orphanet]
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36 / 7739
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20
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(HPO:0001608)
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Abnormality of the voice |
Very frequent [Orphanet]
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|
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126 / 7739
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21
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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 |