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spastic paraplegia 89, autosomal recessive - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spastic paraplegia 89, autosomal recessive

MONDO:0957274

Overview

GeneticsAutosomal recessive · AMFR (chr 16)

ResearchLimited published research (1 article)

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: Lower limb hyperreflexia, Motor delay, and Spastic paraplegia; and common findings: Thin corpus callosum. 14 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	8	Delayed speech and language development, Mild intellectual disability, Loss of previously acquired skills (developmental regression)

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.

AMFR encodes autocrine motility factor receptor (643 aa). E3 ubiquitin-protein ligase that mediates the polyubiquitination of lysine and cysteine residues on target proteins, such as CD3D, CYP3A4, CFTR, INSIG1, SOAT2/ACAT2 and APOB for proteasomal degradation. Highest expression in Testis (118.7 TPM) and Muscle Skeletal (93.4 TPM).

Spastic paraplegia 89, autosomal recessive is associated with mutations in the AMFR gene on chromosome 16.

AMFR is classified as a druggable target with score 3.7.

Diagnosis

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

Biomarker and diagnostic research for spastic paraplegia 89, autosomal recessive has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 always present features, 1 common feature.

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 spastic paraplegia 89, autosomal recessive.

1 publication has been identified in PubMed for spastic paraplegia 89, autosomal recessive. Research spans Diagnostic / Biomarker (100%).

Recent Publications

Di Folco C (2025). [PMID: 40832806](https://pubmed.ncbi.nlm.nih.gov/40832806/). *Mov Disord*. [Diagnostic / Biomarker]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 9:41 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620379

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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spastic paraplegia 89, autosomal recessive

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

Questions for Your Care Team

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