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glycosylphosphatidylinositol biosynthesis defect 18 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

glycosylphosphatidylinositol biosynthesis defect 18

MONDO:0029140

Also known as:developmental and epileptic encephalopathy 95GPIBD18

Overview

GeneticsAutosomal recessive · PIGS (chr 17)

OnsetINFANTILE, ANTENATAL

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: Inability to walk, Seizure, Ataxia, and Generalized hypotonia and others; and very common findings: Coarse facial features, Microcephaly, and Status epilepticus. 62 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	15	Bilateral tonic-clonic seizure, Inability to walk, Seizure

Genetic Landscape

PIGS function has not been fully characterized.

Glycosylphosphatidylinositol biosynthesis defect 18 is caused by mutations in the PIGS gene on chromosome 17.

Diagnosis

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

Biomarker and diagnostic research for glycosylphosphatidylinositol biosynthesis defect 18 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 15 always present features, 3 very common features, 26 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 glycosylphosphatidylinositol biosynthesis defect 18.

109 publications have been identified in PubMed for glycosylphosphatidylinositol biosynthesis defect 18. Research spans Epidemiology / Natural History (44%), Review / Meta-Analysis (20%), and Clinical Trial Publication (13%).

Research Type	Count	% of Total
Disease patterns and progression	48	44%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 1:01 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618143

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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glycosylphosphatidylinositol biosynthesis defect 18

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

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glycosylphosphatidylinositol biosynthesis defect 18

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications