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leukodystrophy, childhood-onset, remitting - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

leukodystrophy, childhood-onset, remitting

MONDO:0859246

Overview

GeneticsAutosomal dominant · FBP2 (chr 9)

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: Irritability; and common findings: Difficulty walking (gait disturbance), Feeding difficulties, Tube feeding, and Focal-onset seizure and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Difficulty walking (gait disturbance), Irritability, Focal-onset seizure

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

FBP2 encodes fructose-bisphosphatase 2 (339 aa). Catalyzes the hydrolysis of fructose 1,6-bisphosphate to fructose 6-phosphate in the presence of divalent cations and probably participates in glycogen synthesis from carbohydrate precursors, such as ... Highest expression in Muscle Skeletal (137.6 TPM) and Stomach (43.0 TPM).

Leukodystrophy, childhood-onset, remitting is associated with mutations in the FBP2 gene on chromosome 9.

FBP2 is classified as a druggable target (Druggable Genome and Enzyme categories) with score 26.1.

Diagnosis

Genetic testing for FBP2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature, 6 common features.

Data assembled from 4 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:619864

Questions for Your Care Team

→Should I pursue genetic testing for FBP2, and what would the results mean for my family?
→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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leukodystrophy, childhood-onset, remitting

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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