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Copper deficiency, familial benign

MedGen UID:
338958
Concept ID:
C1852576
Disease or Syndrome
Synonyms: Familial benign hypocupremia
SNOMED CT: Familial benign copper deficiency (763531001); Familial benign hypocupremia (763531001)
 
OMIM®: 121270
Orphanet: ORPHA1551

Definition

A rare disorder of mineral absorption and transport characterised by hypocupraemia that manifests as failure to thrive, mild anaemia, repeated seizures, hypotonia and seborrhoeic 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

Seborrheic dermatitis
MedGen UID:
19912
Concept ID:
C0036508
Disease or Syndrome
A chronic inflammatory disease of the skin with unknown etiology. It is characterized by moderate ERYTHEMA, dry, moist, or greasy (SEBACEOUS GLAND) scaling and yellow crusted patches on various areas, especially the scalp, that exfoliate as dandruff. Seborrheic dermatitis is common in children and adolescents with HIV INFECTIONS.
Seizures
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as EPILEPSY or "seizure disorder."
Anemia
MedGen UID:
56401
Concept ID:
C0162119
Finding
A reduction in erythrocytes volume or hemoglobin concentration.
Failure to thrive
MedGen UID:
115900
Concept ID:
C0231246
Finding
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Hypocupremia
MedGen UID:
488831
Concept ID:
C0268070
Disease or Syndrome
A reduced concentration of copper in the blood.
Curly hair
MedGen UID:
488919
Concept ID:
C0558165
Finding
Abnormality of the skeletal system
MedGen UID:
867418
Concept ID:
C4021790
Anatomical Abnormality
An abnormality of the skeletal system.
Early balding
MedGen UID:
871237
Concept ID:
C4025718
Finding
Loss of scalp hair at an earlier than normal age.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCopper deficiency, familial benign
Follow this link to review classifications for Copper deficiency, familial benign in Orphanet.

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