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peripheral motor neuropathy, childhood-onset, biotin-responsive - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

peripheral motor neuropathy, childhood-onset, biotin-responsive

MONDO:0859255

Overview

GeneticsAutosomal recessive · SLC5A6 (chr 2)

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 very common findings: Thenar muscle atrophy and Interosseus muscle atrophy; and common findings: Inguinal hernia, Fiber type grouping, Distal lower limb muscle weakness, and Areflexia of lower limbs. 11 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	3	Thenar muscle atrophy, Interosseus muscle atrophy, Distal lower limb muscle weakness

Genetic Landscape

SLC5A6 function has not been fully characterized.

Peripheral motor neuropathy, childhood-onset, biotin-responsive is associated with mutations in the SLC5A6 gene on chromosome 2.

Diagnosis

Genetic testing for SLC5A6 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 very common features, 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.

No clinical trials have been registered for peripheral motor neuropathy, childhood-onset, biotin-responsive.

6 publications have been identified in PubMed for peripheral motor neuropathy, childhood-onset, biotin-responsive. Research spans Review / Meta-Analysis (33%), Case Report / Case Series (33%), and Basic Science / Preclinical (33%).

Recent Publications

Pi BK (2025). [PMID: 40396389](https://pubmed.ncbi.nlm.nih.gov/40396389/). *J Peripher Nerv Syst*. [Case Report / Case Series]
D'Silva A (2025). [PMID: 39948021](https://pubmed.ncbi.nlm.nih.gov/39948021/). *Neurotherapeutics*. [Review / Meta-Analysis]
Zhou X (2025). [PMID: 41449219](https://pubmed.ncbi.nlm.nih.gov/41449219/). *Sci Rep*. [Basic Science / Preclinical]
Riley LG (2024). [PMID: 38816490](https://pubmed.ncbi.nlm.nih.gov/38816490/). *Eur J Hum Genet*. [Case Report / Case Series]
Zhou X (2024). [PMID: 39091855](https://pubmed.ncbi.nlm.nih.gov/39091855/). *bioRxiv*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 7:08 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619903

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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peripheral motor neuropathy, childhood-onset, biotin-responsive

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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