Oculocerebral hypopigmentation syndrome, Preus type
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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23
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OrphanetNr:
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2720
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OMIM Id:
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ICD-10:
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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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Autosomal recessive 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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No data available.
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1
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(HPO:0000124)
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Renal tubular dysfunction |
Occasional [Orphanet]
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46 / 7739
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2
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(HPO:0000639)
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Nystagmus |
Very frequent [Orphanet]
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555 / 7739
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3
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(HPO:0001107)
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Ocular albinism |
Very frequent [Orphanet]
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40 / 7739
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4
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(HPO:0000613)
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Photophobia |
Occasional [Orphanet]
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158 / 7739
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5
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(HPO:0000518)
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Cataract |
Occasional [Orphanet]
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454 / 7739
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6
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(HPO:0000365)
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Hearing impairment |
Very frequent [Orphanet]
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539 / 7739
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7
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(HPO:0001250)
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Seizures |
Very frequent [Orphanet]
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1245 / 7739
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8
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(HPO:0002066)
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Gait ataxia |
Occasional [Orphanet]
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327 / 7739
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9
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(HPO:0001387)
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Joint stiffness |
Very frequent [Orphanet]
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322 / 7739
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10
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(HPO:0001385)
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Hip dysplasia |
Occasional [Orphanet]
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242 / 7739
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11
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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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12
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(HPO:0011302)
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Long palm |
Frequent [Orphanet]
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70 / 7739
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13
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(HPO:0004322)
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Short stature |
Very frequent [Orphanet]
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1232 / 7739
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14
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(HPO:0001010)
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Hypopigmentation of the skin |
Very frequent [Orphanet]
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46 / 7739
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15
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(HPO:0001022)
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Albinism |
Very frequent [Orphanet]
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43 / 7739
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16
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(HPO:0001903)
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Anemia |
Very frequent [Orphanet]
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289 / 7739
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17
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(HPO:0001874)
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Abnormality of neutrophils |
Frequent [Orphanet]
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47 / 7739
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18
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(HPO:0010978)
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Abnormality of immune system physiology |
Very frequent [Orphanet]
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148 / 7739
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19
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(HPO:0002334)
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Abnormality of the cerebellar vermis |
Very frequent [Orphanet]
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137 / 7739
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20
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(HPO:0010662)
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Abnormality of the diencephalon |
Frequent [Orphanet]
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6 / 7739
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21
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(HPO:0012758)
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Neurodevelopmental delay |
Very frequent [Orphanet]
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949 / 7739
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22
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(HPO:0000238)
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Hydrocephalus |
Frequent [Orphanet]
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278 / 7739
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23
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(HPO:0002363)
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Abnormality of brainstem morphology |
Frequent [Orphanet]
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14 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |