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spastic paraplegia 92, autosomal recessive - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spastic paraplegia 92, autosomal recessive

MONDO:0975746

Overview

GeneticsFICD (chr 12)

ResearchLimited published research (2 articles)

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.

FICD encodes FIC domain protein adenylyltransferase (458 aa). Protein that can both mediate the addition of adenosine 5'-monophosphate (AMP) to specific residues of target proteins (AMPylation), and the removal of the same modification from target proteins (de-AMPylation), depending on the context. Highest expression in Pituitary (17.6 TPM) and Testis (9.4 TPM).

Spastic paraplegia 92, autosomal recessive is associated with mutations in the FICD gene on chromosome 12.

FICD is classified as a druggable target with score 0.0.

Diagnosis

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

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 92, autosomal recessive.

2 publications have been identified in PubMed for spastic paraplegia 92, autosomal recessive. Research spans Case Report / Case Series (50%) and Epidemiology / Natural History (50%).

Recent Publications

Vinci M (2024). [PMID: 39766922](https://pubmed.ncbi.nlm.nih.gov/39766922/). *Genes*. [Case Report / Case Series]
Alstrup M (2024). [PMID: 39033379](https://pubmed.ncbi.nlm.nih.gov/39033379/). *Genetics in medicine : official journal of the American College of Medical Genetics*. [Epidemiology / Natural History]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 6:21 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620911

Questions for Your Care Team

→Should I pursue genetic testing for FICD, 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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spastic paraplegia 92, autosomal recessive

Overview

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team