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familial benign copper deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

familial benign copper deficiency

MONDO:0007368

Also known as:copper deficiency, familial benignfamilial benign hypocupremia

Overview

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 1982.

GeneticsX-linked, Autosomal dominant

ResearchLimited published research (2 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Abnormality of immune system physiology; and common findings: Wide nasal bridge, Acne, Low muscle tone (hypotonia), and Deep philtrum and others. 15 total HPO annotations.

Organ System	Phenotype Count	Example Features
Growth and development	2	Failure to thrive, Short stature

Prognosis

Phenotype severity distribution: 1 very common feature, 5 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for familial benign copper deficiency.

2 publications have been identified in PubMed for familial benign copper deficiency. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).

Recent Publications

Shao J (2025). [PMID: 40261314](https://pubmed.ncbi.nlm.nih.gov/40261314/). *Sci Prog*. [Case Report / Case Series]
Katsaras G (2024). [PMID: 38921186](https://pubmed.ncbi.nlm.nih.gov/38921186/). *Hematol Rep*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 12:56 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:121270

Orphanet

European rare disease database

Orphanet:1551

GARD

Genetic and Rare Diseases Info Center

GARD:1522

Questions for Your Care Team

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familial benign copper deficiency

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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