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A rare hypomyelinating leukodystrophy disorder in which the cause of the disease is a variation in any of the POLR genes, including POLR1C, POLR3A or POLR3B. It is characterized by the association of dental abnormalities (delayed dentition, abnormal order of dentition, hypodontia), hypogonadotropic hypogonadism, and hypomyelinating leukodystrophy manifesting with neurodevelopmental delay or regression and/or progressive cerebellar symptoms.
Features include very common findings: Hypogonadotropic hypogonadism, Abnormality of the dentition, Myopia, and Hypodontia and others; and common findings: Abnormal eye movements (abnormality of eye movement), Delayed puberty, Tremor, and Difficulty swallowing (dysphagia) and others. 32 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 11 | Ataxia, Dysarthria, Dystonia |
Phenotype severity distribution: 8 very common features, 10 common features.
Estimated prevalence: Unknown (Unknown prevalence).
No clinical trials have been registered for POLR-related leukodystrophy.
16 publications have been identified in PubMed for POLR-related leukodystrophy. Research spans Basic Science / Preclinical (31%), Review / Meta-Analysis (25%), and Case Report / Case Series (25%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 5 | 31% |
Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 9:39 PM UTC
European rare disease database
Common questions about POLR-related leukodystrophy
Eyes |
5 |
Abnormal eye movements (abnormality of eye movement), Abnormal saccadic eye movements, Gaze-evoked nystagmus |
Hormones | 4 | Hypogonadotropic hypogonadism, Delayed puberty, Decreased response to growth hormone stimulation test |
Growth and development | 2 | Short stature, Decreased response to growth hormone stimulation test |
Muscles | 2 | Shrinkage of the cerebellum (cerebellar atrophy), Damage to the optic nerve (optic atrophy) |
Digestive system | 1 | Difficulty swallowing (dysphagia) |
4 |
25% |
Patient case studies | 4 | 25% |
Disease patterns and progression | 3 | 19% |
Sachithanandan S (2026). [PMID: 41643178](https://pubmed.ncbi.nlm.nih.gov/41643178/). *Annals of Indian Academy of Neurology*. [Basic Science / Preclinical]
Le A (2026). [PMID: 41518854](https://pubmed.ncbi.nlm.nih.gov/41518854/). *Pediatric neurology*. [Epidemiology / Natural History]
Kok LML (2025). [PMID: 40902324](https://pubmed.ncbi.nlm.nih.gov/40902324/). *Stem cell research*. [Basic Science / Preclinical]
Michell-Robinson MA (2025). [PMID: 40684265](https://pubmed.ncbi.nlm.nih.gov/40684265/). *HGG advances*. [Review / Meta-Analysis]
Blaszczyk GJ (2025). [PMID: 40234453](https://pubmed.ncbi.nlm.nih.gov/40234453/). *NPJ systems biology and applications*. [Basic Science / Preclinical]
Chapleau A (2025). [PMID: 41315317](https://pubmed.ncbi.nlm.nih.gov/41315317/). *NPJ genomic medicine*. [Review / Meta-Analysis]
Chapleau A (2025). [PMID: 41143125](https://pubmed.ncbi.nlm.nih.gov/41143125/). *Neurology. Genetics*. [Review / Meta-Analysis]
Le A (2025). [PMID: 40106878](https://pubmed.ncbi.nlm.nih.gov/40106878/). *Pediatric neurology*. [Epidemiology / Natural History]
Büyükyılmaz G (2025). [PMID: 36974356](https://pubmed.ncbi.nlm.nih.gov/36974356/). *Journal of clinical research in pediatric endocrinology*. [Case Report / Case Series]
Moir RD (2024). [PMID: 38168294](https://pubmed.ncbi.nlm.nih.gov/38168294/). *bioRxiv : the preprint server for biology*. [Review / Meta-Analysis]