Familial benign copper deficiency

Orpha code: 1551OMIM code: 121270

Definicja

Familial benign copper deficiency is a rare disorder of mineral absorption and transport characterized by hypocupremia that manifests as failure to thrive, mild anemia, repeated seizures, hypotonia, and seborrheic skin. Spurring of the femur and tibia are also noted on radiographic imaging. Symptoms are reversible or improve with supplements of oral copper. There have been no further descriptions in the literature since 1988.

Disease data
Klasyfikacja

Disease

Synonimy
Familial benign hypocupremia
Kod ORPHA
1551
Kod OMIM
121270
Kod ICD10
E83.0
Kod ICD11
-

No additional description.

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