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neuronopathy, distal hereditary motor, autosomal recessive 8 (SORDD) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neuronopathy, distal hereditary motor, autosomal recessive 8

MONDO:0030055

Also known as:SORDDsorbitol dehydrogenase deficiencysorbitol dehydrogenase deficiency with peripheral neuropathy

Find Clinical TrialsTrials

Overview

GeneticsAutosomal recessive · SORD (chr 15)

Clinical Trials1 registered

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: Increased serum sorbitol concentration; and very common findings: Distal lower limb muscle weakness. 11 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	3	Distal upper limb muscle weakness, Distal lower limb muscle weakness, Proximal lower limb muscle weakness

Genetic Landscape

SORD function has not been fully characterized.

Neuronopathy, distal hereditary motor, autosomal recessive 8 is associated with mutations in the SORD gene on chromosome 15.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

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

Biomarker and diagnostic research for neuronopathy, distal hereditary motor, autosomal recessive 8 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 1 very common feature, 4 common 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.

1 clinical trial registered. Pipeline includes 1 PHASE3.

6 publications have been identified in PubMed for neuronopathy, distal hereditary motor, autosomal recessive 8. Research spans Diagnostic / Biomarker (33%), Basic Science / Preclinical (33%), and Review / Meta-Analysis (17%).

Recent Publications

Hao N (2026). [PMID: 41691317](https://pubmed.ncbi.nlm.nih.gov/41691317/). *Hum Genomics*. [Epidemiology / Natural History]
Moro N (2026). [PMID: 42021567](https://pubmed.ncbi.nlm.nih.gov/42021567/). *J Peripher Nerv Syst*. [Diagnostic / Biomarker]
Sari MC (2025). [PMID: 40471691](https://pubmed.ncbi.nlm.nih.gov/40471691/). *Curr Opin Neurol*. [Review / Meta-Analysis]
Li Z (2025). [PMID: 40580554](https://pubmed.ncbi.nlm.nih.gov/40580554/). *J Neuropathol Exp Neurol*. [Basic Science / Preclinical]
Bontrager JE (2025). [PMID: 41223342](https://pubmed.ncbi.nlm.nih.gov/41223342/). *Neurology*. [Diagnostic / Biomarker]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 5:52 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618912

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 1 active clinical trial 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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neuronopathy, distal hereditary motor, autosomal recessive 8

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

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