Disorder of copper metabolism

Summary

Disorder of copper metabolism (MONDO:0017762) is a disease (an umbrella term covering 6 Mondo subtypes). A subtype of disorder of mineral absorption and transport — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Umbrella term: 6 Mondo subtypes

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	disorder of copper metabolism
Mondo ID	MONDO:0017762
Orphanet	309839
ICD-11	1926278296
SNOMED CT	79886009
UMLS	C0012714
MedGen	507647
GARD	0021354
MedDRA	10061091
Is cancer (heuristic)	no

Also known as: copper Transport disorders · inborn cellular copper ion homeostasis disorder · inborn error of cellular copper ion homeostasis · rare inborn error of cellular copper ion homeostasis

Disease family

This is a subtype of disorder of mineral absorption and transport. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › inborn errors of metabolism › disorder of metabolite absorption and transport › disorder of mineral absorption and transport › disorder of copper metabolism

Related subtypes (4): disorder of iron metabolism and transport, disorder of zinc metabolism, disorder of magnesium transport, disorder of manganese transport

Subtypes (6): familial benign copper deficiency, Wilson disease, occipital horn syndrome, Menkes disease, MEDNIK syndrome, autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.