Familial benign copper deficiency
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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25
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OrphanetNr:
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1551
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OMIM Id:
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121270
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ICD-10:
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E83.0
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UMLs:
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C1852576
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MeSH:
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C535468
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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 dominant inheritance
[Omim]
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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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Disorder of copper metabolism
-Rare genetic disease
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1
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(HPO:0002002)
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Deep philtrum |
Frequent [Orphanet]
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42 / 7739
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2
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(HPO:0000431)
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Wide nasal bridge |
Frequent [Orphanet]
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290 / 7739
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3
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(HPO:0001250)
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Seizures |
Frequent [Orphanet]
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1245 / 7739
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4
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(HPO:0000924)
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Abnormality of the skeletal system |
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114 / 7739
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5
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(HPO:0002992)
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Abnormality of the tibia |
Occasional [Orphanet]
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51 / 7739
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6
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(HPO:0000940)
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Abnormal diaphysis morphology |
Occasional [Orphanet]
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41 / 7739
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7
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(HPO:0002823)
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Abnormality of the femur |
Occasional [Orphanet]
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61 / 7739
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8
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(HPO:0001508)
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Failure to thrive |
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454 / 7739
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9
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(HPO:0004322)
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Short stature |
Frequent [Orphanet]
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1232 / 7739
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10
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(HPO:0001061)
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Acne |
Frequent [Orphanet]
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33 / 7739
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11
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(HPO:0001006)
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Hypotrichosis |
Occasional [Orphanet]
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219 / 7739
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12
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(HPO:0002212)
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Curly hair |
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21 / 7739
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13
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(HPO:0001051)
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Seborrheic dermatitis |
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25 / 7739
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14
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(HPO:0002234)
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Early balding |
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2 / 7739
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15
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(HPO:0001903)
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Anemia |
Occasional [Orphanet]
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289 / 7739
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16
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(HPO:0011967)
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Hypocupremia |
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1 / 7739
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17
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(HPO:0001939)
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Abnormality of metabolism/homeostasis |
Very frequent [Orphanet]
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328 / 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:0001252)
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Muscular hypotonia |
Frequent [Orphanet]
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990 / 7739
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20
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(OMIM)
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Blond curly hair |
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1 / 7739
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21
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(OMIM)
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? Defective intestinal absorption of copper |
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1 / 7739
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22
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(OMIM)
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Normal ceruloplasmin levels |
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1 / 7739
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23
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(OMIM)
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Anemia, mild |
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6 / 7739
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24
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(OMIM)
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Thin habitus |
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1 / 7739
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25
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(OMIM)
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Spurring of femurs and tibias |
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1 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |