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leukoencephalopathy with calcifications and cysts (LCC) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

leukoencephalopathy with calcifications and cysts

MONDO:0013803

Also known as:LCCleukoencephalopathy, brain calcifications, and cystsLabrune syndrome

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Overview

GeneticsAutosomal recessive · SNORD118 (chr 17)

Clinical Trials2 registered · 2 recruiting

ResearchLimited published research (9 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 common findings: Seizure and Global developmental delay; and sometimes findings: Hemiplegia, Dystonia, Ataxia, and Mental deterioration and others. 15 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	13	Hemiplegia, Dystonia, Difficulty walking (gait disturbance)

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Genetic Landscape

SNORD118 function has not been fully characterized.

Leukoencephalopathy with calcifications and cysts is associated with mutations in the SNORD118 gene on chromosome 17.

Diagnosis

Genetic testing for SNORD118 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 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.

2 clinical trials registered, 2 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

9 publications have been identified in PubMed for leukoencephalopathy with calcifications and cysts. Research spans Case Report / Case Series (89%) and Review / Meta-Analysis (11%).

Recent Publications

Guan C (2026). [PMID: 41623704](https://pubmed.ncbi.nlm.nih.gov/41623704/). *Front Neurosci*. [Case Report / Case Series]
Grafstein J (2025). [PMID: 41311457](https://pubmed.ncbi.nlm.nih.gov/41311457/). *Rare*. [Case Report / Case Series]
Wang Z (2025). [PMID: 40635541](https://pubmed.ncbi.nlm.nih.gov/40635541/). *J Clin Neurol*. [Case Report / Case Series]
Jones FJ (2024). [PMID: 39348617](https://pubmed.ncbi.nlm.nih.gov/39348617/). *Neurology*. [Case Report / Case Series]
Wilson A (2024). [PMID: 39640958](https://pubmed.ncbi.nlm.nih.gov/39640958/). *Obstet Med*. [Case Report / Case Series]

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 11:55 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614561

Orphanet

European rare disease database

Orphanet:542310

GARD

Genetic and Rare Diseases Info Center

GARD:10732

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are any of the 2 active clinical trials a good fit for my situation?
→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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leukoencephalopathy with calcifications and cysts

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team