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spastic paraparesis-cataracts-speech delay syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spastic paraparesis-cataracts-speech delay syndrome

MONDO:0036212

Also known as:Fatty acyl-CoA reductase 1 superactivity

Overview

GeneticsAutosomal dominant · FAR1 (chr 11)

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: Delayed ability to walk, Cataract, and Spastic paraparesis; and very common findings: Delayed speech and language development. 13 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Bilateral tonic-clonic seizure, Delayed speech and language development, Generalized non-motor (absence) 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.

FAR1 encodes fatty acyl-CoA reductase 1 (515 aa). Catalyzes the reduction of saturated and unsaturated C16 or C18 fatty acyl-CoA to fatty alcohols. Highest expression in Brain Spinal cord cervical c-1 (60.3 TPM) and Esophagus Mucosa (59.2 TPM).

Spastic paraparesis-cataracts-speech delay syndrome is associated with mutations in the FAR1 gene on chromosome 11.

The FAR1 protein participates in FAR1 reduces PalmCoA to HXOL and Wax biosynthesis pathways.

FAR1 is classified as a druggable target (Enzyme category) with score 0.0.

Diagnosis

Genetic testing for FAR1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 1 very common feature, 3 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 spastic paraparesis-cataracts-speech delay syndrome.

103 publications have been identified in PubMed for spastic paraparesis-cataracts-speech delay syndrome. Kisho has analyzed 27 by research type. Research spans Case Report / Case Series (44%), Basic Science / Preclinical (30%), and Review / Meta-Analysis (19%).

Research Type	Count	% of Total
Patient case studies	12	44%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 3:09 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619338

Orphanet

European rare disease database

Orphanet:615938

GARD

Genetic and Rare Diseases Info Center

GARD:18033

Questions for Your Care Team

→Should I pursue genetic testing for FAR1, 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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Kisho

spastic paraparesis-cataracts-speech delay syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

spastic paraparesis-cataracts-speech delay syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications