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spastic paraplegia-glaucoma-intellectual disability syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spastic paraplegia-glaucoma-intellectual disability syndrome

MONDO:0010049

Also known as:spastic paresis glaucoma intellectual disabilityspastic paresis glaucoma mental retardationspastic paresis, glaucoma, and intellectual disability

Overview

Spastic paraplegia-glaucoma-intellectual disability syndrome is characterized by progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive.

Clinical Presentation

Features include very common findings: Glaucoma, Intellectual disability, Spasticity, and Paraplegia.

Organ System	Phenotype Count	Example Features
Brain and nerves	3	Intellectual disability, Spasticity, Paraplegia
Eyes	1	Glaucoma

Explore clinical features

Diagnosis

Biomarker and diagnostic research for spastic paraplegia-glaucoma-intellectual disability syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 4 very common features.

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 spastic paraplegia-glaucoma-intellectual disability syndrome.

95 publications have been identified in PubMed for spastic paraplegia-glaucoma-intellectual disability syndrome. Research spans Case Report / Case Series (46%), Review / Meta-Analysis (30%), and Basic Science / Preclinical (12%).

Research Type	Count	% of Total
Patient case studies	41	46%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 6:22 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:270850

Orphanet

European rare disease database

Orphanet:2818

GARD

Genetic and Rare Diseases Info Center

GARD:4931

Questions for Your Care Team

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Kisho

spastic paraplegia-glaucoma-intellectual disability syndrome

Overview

Clinical Presentation

Explore clinical features

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Recent Publications

Latest News & Developments

FTLD-TDP-43 With Motor Neuron Disease Pathology in an Autopsied Patient With Spastic Paraplegia-30B Harbouring a Homozygous KIF1A Variant.

Genotype-structure-phenotype correlations define divergent natural history in early-onset spastic paraplegia type 4.

spastic paraplegia-glaucoma-intellectual disability syndrome

Overview

Clinical Presentation

Explore clinical features

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications

Latest News & Developments

FTLD-TDP-43 With Motor Neuron Disease Pathology in an Autopsied Patient With Spastic Paraplegia-30B Harbouring a Homozygous KIF1A Variant.

Genotype-structure-phenotype correlations define divergent natural history in early-onset spastic paraplegia type 4.