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Decreased circulating copper concentration

MedGen UID:
488831
Concept ID:
C0268070
Disease or Syndrome
Synonyms: Chronic copper deficiency; Copper deficiency; Hypocupremia; Reduced serum copper
SNOMED CT: Hypocupremia (19577007); Chronic copper deficiency (19577007); Copper deficiency (19577007)
 
HPO: HP:0011967

Definition

A reduced concentration of copper in the blood. [from HPO]

Term Hierarchy

Conditions with this feature

Cutis laxa, X-linked
MedGen UID:
82793
Concept ID:
C0268353
Congenital Abnormality
Occipital horn syndrome (OHS) is a rare connective tissue disorder characterized by hyperelastic and bruisable skin, hernias, bladder diverticula, hyperextensible joints, varicosities, and multiple skeletal abnormalities. The disorder is sometimes accompanied by mild neurologic impairment, and bony abnormalities of the occiput are a common feature, giving rise to the name (summary by Das et al., 1995).
Autosomal recessive keratitis-ichthyosis-deafness syndrome
MedGen UID:
224809
Concept ID:
C1275089
Disease or Syndrome
Autosomal recessive keratitis-ichthyosis-deafness syndrome (KIDAR) is characterized by neonatal-onset ichthyotic erythroderma and profound sensorineural deafness, with failure to thrive and developmental delay in childhood. Severe corneal scarring with vision loss has been observed in adulthood. Low plasma copper and ceruloplasmin levels have been reported in some patients (Alsaif et al., 2019; Boyden et al., 2019). An autosomal dominant form of KID syndrome (KIDAD; 148210) is caused by mutation in the GJB2 gene (121011) on chromosome 13q12. Mutation in the AP1S1 gene (603531) causes a disorder with overlapping features (MEDNIK; 609313).
Familial benign copper deficiency
MedGen UID:
338958
Concept ID:
C1852576
Disease or Syndrome
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.
Congenital cataract-hearing loss-severe developmental delay syndrome
MedGen UID:
482595
Concept ID:
C3280965
Disease or Syndrome
Huppke-Brendel syndrome (HBS) is characterized by bilateral congenital cataracts, sensorineural hearing loss, and severe developmental delay. To date, six individuals with HBS have been reported in the literature. All presented in infancy with axial hypotonia; motor delay was apparent in the first few months of life with lack of head control and paucity of limb movement. Seizures have been reported infrequently. In all individuals described to date serum copper and ceruloplasmin levels were very low or undetectable. Brain MRI examination showed hypomyelination, cerebellar hypoplasia mainly affecting the vermis, and wide subarachnoid spaces. None of the individuals reported to date were able to sit or walk independently. All affected individuals died between age ten months and six years.
Immunodeficiency 47
MedGen UID:
934786
Concept ID:
C4310819
Disease or Syndrome
Immunodeficiency-47 (IMD47) is an X-linked recessive complex syndrome characterized by liver dysfunction, recurrent bacterial infections, hypogammaglobulinemia, and defective glycosylation of serum proteins. Some patients also have neurologic abnormalities (summary by Jansen et al., 2016).
Congenital disorder of glycosylation, type IIq
MedGen UID:
1390458
Concept ID:
C4479353
Disease or Syndrome
A rare congenital disorder of glycosylation caused by mutations in the COG2 gene and with characteristics of normal presentation at birth, followed by progressive deterioration with postnatal microcephaly, developmental delay, intellectual disability, seizures, spastic quadriplegia, liver dysfunction, hypocupremia and hypoceruloplasminemia in the first year of life. Diffuse cerebral atrophy and thin corpus callosum may be observed on brain MRI.

Professional guidelines

PubMed

Bai Y, Wang G, Fu W, Lu Y, Wei W, Chen W, Wu X, Meng H, Feng Y, Liu Y, Li G, Wang S, Wang K, Dai J, Li H, Li M, Huang J, Li Y, Wei S, Yuan J, Yao P, Miao X, He M, Zhang X, Yang H, Wu T, Guo H
Environ Int 2019 Jun;127:685-693. Epub 2019 Apr 13 doi: 10.1016/j.envint.2019.04.021. PMID: 30991224
Chen C, Jiang X, Li Y, Yu H, Li S, Zhang Z, Xu H, Yang Y, Liu G, Zhu F, Ren X, Zou L, Xu B, Liu J, Spencer PS, Yang X
Free Radic Biol Med 2019 May 1;135:144-156. Epub 2019 Mar 9 doi: 10.1016/j.freeradbiomed.2019.03.002. PMID: 30862541
Stuerenburg HJ
J Neural Transm (Vienna) 2000;107(3):321-9. doi: 10.1007/s007020050026. PMID: 10821440

Recent clinical studies

Etiology

Lin S, Yang H
Clin Nutr 2021 Apr;40(4):2464-2468. Epub 2020 Oct 14 doi: 10.1016/j.clnu.2020.10.011. PMID: 33129595
Adani G, Filippini T, Michalke B, Vinceti M
Neuroepidemiology 2020;54(1):1-23. Epub 2019 Aug 27 doi: 10.1159/000502357. PMID: 31454800
Bai Y, Wang G, Fu W, Lu Y, Wei W, Chen W, Wu X, Meng H, Feng Y, Liu Y, Li G, Wang S, Wang K, Dai J, Li H, Li M, Huang J, Li Y, Wei S, Yuan J, Yao P, Miao X, He M, Zhang X, Yang H, Wu T, Guo H
Environ Int 2019 Jun;127:685-693. Epub 2019 Apr 13 doi: 10.1016/j.envint.2019.04.021. PMID: 30991224
Maciorkowska D, Zbroch E, Malyszko J
J Am Soc Hypertens 2015 Nov;9(11):855-64. Epub 2015 Aug 12 doi: 10.1016/j.jash.2015.08.002. PMID: 26403854
Borrelli E, Roux-Lombard P, Grau GE, Girardin E, Ricou B, Dayer J, Suter PM
Crit Care Med 1996 Mar;24(3):392-7. doi: 10.1097/00003246-199603000-00006. PMID: 8625625

Diagnosis

Berger MM, Talwar D, Shenkin A
Nutr Clin Pract 2023 Feb;38(1):56-69. Epub 2022 Nov 5 doi: 10.1002/ncp.10924. PMID: 36335431
Maciorkowska D, Zbroch E, Malyszko J
J Am Soc Hypertens 2015 Nov;9(11):855-64. Epub 2015 Aug 12 doi: 10.1016/j.jash.2015.08.002. PMID: 26403854
Stoppe C, Schälte G, Rossaint R, Coburn M, Graf B, Spillner J, Marx G, Rex S
Crit Care Med 2011 Aug;39(8):1879-85. doi: 10.1097/CCM.0b013e3182190d48. PMID: 21460705
Bo S, Durazzo M, Gambino R, Berutti C, Milanesio N, Caropreso A, Gentile L, Cassader M, Cavallo-Perin P, Pagano G
J Nutr 2008 Feb;138(2):305-10. doi: 10.1093/jn/138.2.305. PMID: 18203896
Louro MO, Cocho JA, Tutor JC
Clin Chim Acta 2001 Oct;312(1-2):123-7. doi: 10.1016/s0009-8981(01)00607-6. PMID: 11580917

Therapy

Berger MM, Talwar D, Shenkin A
Nutr Clin Pract 2023 Feb;38(1):56-69. Epub 2022 Nov 5 doi: 10.1002/ncp.10924. PMID: 36335431
Lin S, Yang H
Clin Nutr 2021 Apr;40(4):2464-2468. Epub 2020 Oct 14 doi: 10.1016/j.clnu.2020.10.011. PMID: 33129595
Giacconi R, Giuli C, Casoli T, Balietti M, Costarelli L, Provinciali M, Basso A, Piacenza F, Postacchini D, Galeazzi R, Fattoretti P, Nisi L, Fabbietti P, Papa R, Malavolta M
J Trace Elem Med Biol 2019 Sep;55:58-63. Epub 2019 Jun 5 doi: 10.1016/j.jtemb.2019.06.001. PMID: 31345366
Maciorkowska D, Zbroch E, Malyszko J
J Am Soc Hypertens 2015 Nov;9(11):855-64. Epub 2015 Aug 12 doi: 10.1016/j.jash.2015.08.002. PMID: 26403854
Bradberry S, Vale A
Clin Toxicol (Phila) 2009 Aug;47(7):617-31. doi: 10.1080/15563650903174828. PMID: 19663612

Prognosis

Bai Y, Wang G, Fu W, Lu Y, Wei W, Chen W, Wu X, Meng H, Feng Y, Liu Y, Li G, Wang S, Wang K, Dai J, Li H, Li M, Huang J, Li Y, Wei S, Yuan J, Yao P, Miao X, He M, Zhang X, Yang H, Wu T, Guo H
Environ Int 2019 Jun;127:685-693. Epub 2019 Apr 13 doi: 10.1016/j.envint.2019.04.021. PMID: 30991224
Maciorkowska D, Zbroch E, Malyszko J
J Am Soc Hypertens 2015 Nov;9(11):855-64. Epub 2015 Aug 12 doi: 10.1016/j.jash.2015.08.002. PMID: 26403854
Stoppe C, Schälte G, Rossaint R, Coburn M, Graf B, Spillner J, Marx G, Rex S
Crit Care Med 2011 Aug;39(8):1879-85. doi: 10.1097/CCM.0b013e3182190d48. PMID: 21460705
Bradberry S, Vale A
Clin Toxicol (Phila) 2009 Aug;47(7):617-31. doi: 10.1080/15563650903174828. PMID: 19663612
Borrelli E, Roux-Lombard P, Grau GE, Girardin E, Ricou B, Dayer J, Suter PM
Crit Care Med 1996 Mar;24(3):392-7. doi: 10.1097/00003246-199603000-00006. PMID: 8625625

Clinical prediction guides

Soto-Sánchez J, Martínez-Navarro I, Mandujano-Lázaro G, Rios-Lugo MJ, Hernández-Mendoza H
Hormones (Athens) 2023 Dec;22(4):647-654. Epub 2023 Aug 21 doi: 10.1007/s42000-023-00477-z. PMID: 37603222
Giacconi R, Giuli C, Casoli T, Balietti M, Costarelli L, Provinciali M, Basso A, Piacenza F, Postacchini D, Galeazzi R, Fattoretti P, Nisi L, Fabbietti P, Papa R, Malavolta M
J Trace Elem Med Biol 2019 Sep;55:58-63. Epub 2019 Jun 5 doi: 10.1016/j.jtemb.2019.06.001. PMID: 31345366
Chen C, Jiang X, Li Y, Yu H, Li S, Zhang Z, Xu H, Yang Y, Liu G, Zhu F, Ren X, Zou L, Xu B, Liu J, Spencer PS, Yang X
Free Radic Biol Med 2019 May 1;135:144-156. Epub 2019 Mar 9 doi: 10.1016/j.freeradbiomed.2019.03.002. PMID: 30862541
Maciorkowska D, Zbroch E, Malyszko J
J Am Soc Hypertens 2015 Nov;9(11):855-64. Epub 2015 Aug 12 doi: 10.1016/j.jash.2015.08.002. PMID: 26403854
Borrelli E, Roux-Lombard P, Grau GE, Girardin E, Ricou B, Dayer J, Suter PM
Crit Care Med 1996 Mar;24(3):392-7. doi: 10.1097/00003246-199603000-00006. PMID: 8625625

Recent systematic reviews

Adani G, Filippini T, Michalke B, Vinceti M
Neuroepidemiology 2020;54(1):1-23. Epub 2019 Aug 27 doi: 10.1159/000502357. PMID: 31454800

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