Familial benign copper deficiency

MedGen UID:: 338958
•Concept ID:: C1852576
•: Disease or Syndrome

Synonym:	Familial benign hypocupremia
SNOMED CT:	Familial benign copper deficiency (763531001); Familial benign hypocupremia (763531001)

Monarch Initiative:	MONDO:0007368
OMIM®:	121270
Orphanet:	ORPHA1551

Definition

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 1982. [from SNOMEDCT_US]

Clinical features

From HPO

Failure to thrive

MedGen UID:: 746019
•Concept ID:: C2315100
•: Disease or Syndrome

Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.

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Seizure

MedGen UID:: 20693
•Concept ID:: C0036572
•: Sign or Symptom

A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.

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Anemia

MedGen UID:: 1526
•Concept ID:: C0002871
•: Disease or Syndrome

A reduction in erythrocytes volume or hemoglobin concentration.

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Seborrheic dermatitis

MedGen UID:: 19912
•Concept ID:: C0036508
•: Disease or Syndrome

Seborrheic dermatitis is a form of eczema which is closely related to dandruff. It causes dry or greasy peeling of the scalp, eyebrows, and face, and sometimes trunk.

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Decreased circulating copper concentration

MedGen UID:: 488831
•Concept ID:: C0268070
•: Disease or Syndrome

A reduced concentration of copper in the blood.

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Curly hair

MedGen UID:: 488919
•Concept ID:: C0558165
•: Finding

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Early balding

MedGen UID:: 871237
•Concept ID:: C4025718
•: Finding

Loss of scalp hair at an earlier than normal age.

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Abnormality of blood and blood-forming tissues
- Anemia
Abnormality of metabolism/homeostasis
- Decreased circulating copper concentration
Abnormality of the immune system
- Seborrheic dermatitis
Abnormality of the integument
- Curly hair
- Early balding
Abnormality of the nervous system
- Seizure
Growth abnormality
- Failure to thrive