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neurodegeneration and seizures due to copper transport defect - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neurodegeneration and seizures due to copper transport defect

MONDO:0957211

Overview

GeneticsAutosomal recessive · SLC31A1 (chr 9)

OnsetINFANTILE

ResearchLimited published research (4 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 always present findings: Lethargy, Pulmonary hypoplasia, Focal impaired awareness seizure, and Shrinkage of the cerebellum (cerebellar atrophy) and others. 29 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	6	Focal impaired awareness seizure, Seizure, Cerebral visual impairment

Genetic Landscape

SLC31A1 function has not been fully characterized.

Neurodegeneration and seizures due to copper transport defect is associated with mutations in the SLC31A1 gene on chromosome 9.

Diagnosis

Genetic testing for SLC31A1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 27 always present features.

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 neurodegeneration and seizures due to copper transport defect.

4 publications have been identified in PubMed for neurodegeneration and seizures due to copper transport defect. Research spans Review / Meta-Analysis (75%) and Basic Science / Preclinical (25%).

Recent Publications

Lane AR (2025). [PMID: 40414313](https://pubmed.ncbi.nlm.nih.gov/40414313/). *Neurobiol Dis*. [Review / Meta-Analysis]
Lane AR (2025). [PMID: 39878654](https://pubmed.ncbi.nlm.nih.gov/39878654/). *Mol Biol Cell*. [Basic Science / Preclinical]
Lutsenko S (2025). [PMID: 39172219](https://pubmed.ncbi.nlm.nih.gov/39172219/). *Physiol Rev*. [Review / Meta-Analysis]
Gale J (2024). [PMID: 38747014](https://pubmed.ncbi.nlm.nih.gov/38747014/). *Eur J Neurosci*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 7:10 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620306

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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neurodegeneration and seizures due to copper transport defect

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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