Oculo-skeletal-renal syndrome
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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20
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OrphanetNr:
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2716
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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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Age of onset:
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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Syndromic renal or urinary tract malformation
-Rare developmental defect during embryogenesis
-Rare genetic disease
-Rare renal disease
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1
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(HPO:0000093)
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Proteinuria |
Very frequent [Orphanet]
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169 / 7739
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2
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(HPO:0000083)
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Renal insufficiency |
Very frequent [Orphanet]
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232 / 7739
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3
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(HPO:0000124)
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Renal tubular dysfunction |
Very frequent [Orphanet]
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46 / 7739
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4
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(HPO:0000268)
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Dolichocephaly |
Very frequent [Orphanet]
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144 / 7739
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5
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(HPO:0000308)
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Microretrognathia |
Very frequent [Orphanet]
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78 / 7739
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6
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(HPO:0000582)
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Upslanted palpebral fissure |
Very frequent [Orphanet]
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185 / 7739
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7
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(HPO:0000545)
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Myopia |
Very frequent [Orphanet]
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286 / 7739
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8
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(HPO:0000510)
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Rod-cone dystrophy |
Very frequent [Orphanet]
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266 / 7739
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9
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(HPO:0000483)
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Astigmatism |
Very frequent [Orphanet]
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67 / 7739
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10
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(HPO:0000405)
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Conductive hearing impairment |
Very frequent [Orphanet]
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164 / 7739
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11
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(HPO:0011867)
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Abnormality of the wing of the ilium |
Very frequent [Orphanet]
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123 / 7739
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12
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(HPO:0009466)
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Radial deviation of finger |
Very frequent [Orphanet]
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101 / 7739
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13
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(HPO:0001163)
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Abnormality of the metacarpal bones |
Very frequent [Orphanet]
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149 / 7739
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14
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(HPO:0004279)
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Short palm |
Very frequent [Orphanet]
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323 / 7739
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15
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(HPO:0100745)
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Abnormality of the humeroulnar joint |
Very frequent [Orphanet]
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4 / 7739
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16
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(HPO:0003067)
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Madelung deformity |
Very frequent [Orphanet]
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9 / 7739
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17
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(HPO:0002983)
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Micromelia |
Very frequent [Orphanet]
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130 / 7739
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18
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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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19
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(HPO:0001805)
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Thick nail |
Very frequent [Orphanet]
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96 / 7739
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20
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(HPO:0000822)
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Hypertension |
Very frequent [Orphanet]
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224 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |