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hypomyelinating leukodystrophy 10 (HLD10) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypomyelinating leukodystrophy 10

MONDO:0014632

Also known as:HLD10PYCR2 leukodystrophyPYCR2-related microcephaly-progressive leukoencephalopathy

Overview

Any leukodystrophy in which the cause of the disease is a mutation in the PYCR2 gene.

GeneticsAutosomal recessive · PYCR2 (chr 1)

ResearchLimited published research (3 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: Global developmental delay, Secondary microcephaly, and Reduced cerebral white matter volume; and very common findings: Inability to walk, Failure to thrive, Absent speech, and Progressive microcephaly and others. 76 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	25	Inability to walk, Hypoplasia of the brainstem, Cerebral cortical atrophy

Genetic Landscape

PYCR2 function has not been fully characterized.

Hypomyelinating leukodystrophy 10 is associated with mutations in the PYCR2 gene on chromosome 1.

Diagnosis

Genetic testing for PYCR2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 7 very common features, 16 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 hypomyelinating leukodystrophy 10.

3 publications have been identified in PubMed for hypomyelinating leukodystrophy 10. Research spans Case Report / Case Series (67%) and Basic Science / Preclinical (33%).

Recent Publications

Alghamdi M (2025). [PMID: 40396300](https://pubmed.ncbi.nlm.nih.gov/40396300/). *Am J Med Genet A*. [Case Report / Case Series]
Gürbüz BB (2024). [PMID: 38709052](https://pubmed.ncbi.nlm.nih.gov/38709052/). *Am J Med Genet A*. [Case Report / Case Series]
Farrokhi S (2024). [PMID: 39640834](https://pubmed.ncbi.nlm.nih.gov/39640834/). *Heliyon*. [Basic Science / Preclinical]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 11:53 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616420

Orphanet

European rare disease database

Orphanet:481152

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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hypomyelinating leukodystrophy 10

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

Related Diseases

Questions for Your Care Team

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