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basal ganglia calcification, idiopathic, 6 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

basal ganglia calcification, idiopathic, 6

MONDO:0014628

Also known as:XPR1 bilateral striopallidodentate calcinosisbasal ganglia calcification, idiopathic, type 6bilateral striopallidodentate calcinosis caused by mutation in XPR1

Overview

Any bilateral striopallidodentate calcinosis in which the cause of the disease is a mutation in the XPR1 gene.

GeneticsAutosomal dominant · XPR1 (chr 1)

ResearchLimited published research (6 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: Basal ganglia calcification; and sometimes findings: Seizure. 11 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	8	Parkinsonism, Memory problems (memory impairment), Seizure

Explore clinical features

Genetic Landscape

XPR1 function has not been fully characterized.

Basal ganglia calcification, idiopathic, 6 is associated with mutations in the XPR1 gene on chromosome 1.

Diagnosis

Genetic testing for XPR1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for basal ganglia calcification, idiopathic, 6 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature.

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 basal ganglia calcification, idiopathic, 6.

6 publications have been identified in PubMed for basal ganglia calcification, idiopathic, 6. Research spans Review / Meta-Analysis (33%), Case Report / Case Series (33%), and Diagnostic / Biomarker (17%).

Recent Publications

Al-Azri F (2026). [PMID: 41834789](https://pubmed.ncbi.nlm.nih.gov/41834789/). *Clinical genetics*. [Basic Science / Preclinical]
Magrinelli F (2025). [PMID: 40169250](https://pubmed.ncbi.nlm.nih.gov/40169250/). *Practical neurology*. [Review / Meta-Analysis]
Özaydın Y (2025). [PMID: 40974055](https://pubmed.ncbi.nlm.nih.gov/40974055/). *Neurocase*. [Case Report / Case Series]
Emmi A (2025). [PMID: 39935191](https://pubmed.ncbi.nlm.nih.gov/39935191/). *Annals of clinical and translational neurology*. [Diagnostic / Biomarker]
Yang D (2025). [PMID: 40456615](https://pubmed.ncbi.nlm.nih.gov/40456615/). *eNeuro*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 4:12 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616413

GARD

Genetic and Rare Diseases Info Center

GARD:16107

Questions for Your Care Team

→Should I pursue genetic testing for XPR1, and what would the results mean for my family?
→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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basal ganglia calcification, idiopathic, 6

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team