Linear verrucous nevus syndrome
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Linear hamartoma syndrome
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Number of Symptoms
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26
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OrphanetNr:
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2611
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OMIM Id:
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ICD-10:
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Q82.5
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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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Rare nevus
-Rare oncologic disease
-Rare skin disease
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1
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(HPO:0000077)
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Abnormality of the kidney |
Occasional [Orphanet]
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73 / 7739
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2
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(HPO:0001965)
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Abnormality of the scalp |
Very frequent [Orphanet]
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10 / 7739
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3
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(HPO:0000929)
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Abnormality of the skull |
Occasional [Orphanet]
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53 / 7739
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4
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(HPO:0000256)
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Macrocephaly |
Very frequent [Orphanet]
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298 / 7739
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5
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(HPO:0001305)
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Dandy-Walker malformation |
Occasional [Orphanet]
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79 / 7739
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6
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(HPO:0000518)
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Cataract |
Occasional [Orphanet]
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454 / 7739
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7
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(HPO:0000488)
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Retinopathy |
Occasional [Orphanet]
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75 / 7739
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8
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(HPO:0000481)
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Abnormality of the cornea |
Occasional [Orphanet]
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124 / 7739
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9
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(HPO:0000486)
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Strabismus |
Occasional [Orphanet]
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576 / 7739
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10
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(HPO:0000612)
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Iris coloboma |
Occasional [Orphanet]
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116 / 7739
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11
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(HPO:0001250)
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Seizures |
Very frequent [Orphanet]
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1245 / 7739
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12
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(HPO:0100006)
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Neoplasm of the central nervous system |
Very frequent [Orphanet]
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34 / 7739
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13
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(HPO:0002652)
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Skeletal dysplasia |
Occasional [Orphanet]
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113 / 7739
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14
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(HPO:0002816)
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Genu recurvatum |
Occasional [Orphanet]
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30 / 7739
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15
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(HPO:0002650)
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Scoliosis |
Occasional [Orphanet]
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705 / 7739
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16
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(HPO:0001762)
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Talipes equinovarus |
Occasional [Orphanet]
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309 / 7739
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17
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(HPO:0004349)
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Reduced bone mineral density |
Occasional [Orphanet]
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165 / 7739
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18
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(HPO:0001770)
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Toe syndactyly |
Occasional [Orphanet]
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149 / 7739
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19
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(HPO:0008069)
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Neoplasm of the skin |
Occasional [Orphanet]
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84 / 7739
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20
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(HPO:0001006)
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Hypotrichosis |
Very frequent [Orphanet]
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219 / 7739
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21
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(HPO:0000962)
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Hyperkeratosis |
Very frequent [Orphanet]
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216 / 7739
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22
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(HPO:0001646)
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Abnormality of the aortic valve |
Occasional [Orphanet]
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55 / 7739
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23
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(HPO:0002148)
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Hypophosphatemia |
Occasional [Orphanet]
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43 / 7739
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24
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(HPO:0007370)
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Aplasia/Hypoplasia of the corpus callosum |
Occasional [Orphanet]
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180 / 7739
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25
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(HPO:0002119)
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Ventriculomegaly |
Occasional [Orphanet]
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253 / 7739
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26
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(HPO:0012758)
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Neurodevelopmental delay |
Frequent [Orphanet]
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949 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |