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hereditary spastic paraplegia 74 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hereditary spastic paraplegia 74

MONDO:0014644

Also known as:IBA57 hereditary spastic paraplegiaSPG74autosomal recessive spastic paraplegia 74

Overview

Autosomal recessive spastic paraplegia type 74 is a rare, genetic, spastic paraplegia-optic atrophy-neuropathy-related (SPOAN-like) disorder characterized by childhood onset of mild to moderate spastic paraparesis which manifests with gait impairment that very slowly progresses into late adulthood, hyperactive patellar reflex and bilateral extensor plantar response, in association with optic atrophy and typical symptoms of peripheral neuropathy, including reduced or absent ankle reflexes, lower limb atrophy and distal sensory impairment. Reduced visual acuity and pes cavus are frequently reported.

GeneticsAutosomal recessive · IBA57 (chr 1)

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: Peripheral axonal neuropathy, Babinski sign, Visual field defect, and Areflexia and 5 more.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Peripheral axonal neuropathy, Babinski sign, Spastic paraplegia
Eyes

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.

IBA57 encodes iron-sulfur cluster assembly factor IBA57 (356 aa). Mitochondrial protein involved in the maturation of mitochondrial [4Fe-4S]-proteins in the late stage of the iron-sulfur cluster assembly pathway. Highest expression in Testis (9.4 TPM) and Brain Cerebellar Hemisphere (4.6 TPM).

Hereditary spastic paraplegia 74 is associated with mutations in the IBA57 gene on chromosome 1.

The IBA57 protein participates in Formation of 4Fe-4S cluster on ISCA1:ISCA2 and Mitochondrial iron-sulfur cluster biogenesis pathways.

IBA57 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for IBA57 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hereditary spastic paraplegia 74 has been reported in the published literature.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 hereditary spastic paraplegia 74.

15 publications have been identified in PubMed for hereditary spastic paraplegia 74. Research spans Basic Science / Preclinical (33%), Epidemiology / Natural History (20%), and Case Report / Case Series (13%).

Research Type	Count	% of Total
Laboratory research	5	33%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 6:55 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616451

Orphanet

European rare disease database

Orphanet:468661

GARD

Genetic and Rare Diseases Info Center

GARD:17842

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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hereditary spastic paraplegia 74

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

hereditary spastic paraplegia 74

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