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glycosylphosphatidylinositol biosynthesis defect 17 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

glycosylphosphatidylinositol biosynthesis defect 17

MONDO:0060724

Also known as:GPIBD17

Overview

GeneticsAutosomal recessive · PIGH (chr 14)

ResearchLimited published research (3 articles)

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: Dysplastic corpus callosum, Seizure, and Aggressive behavior; and common findings: Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Dry skin, and Clinodactyly of the 5th toe and others. 23 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	8	Bilateral tonic-clonic seizure, Poor speech, Generalized myoclonic seizure

Genetic Landscape

PIGH function has not been fully characterized.

Glycosylphosphatidylinositol biosynthesis defect 17 has limited evidence linking it to mutations in the PIGH gene on chromosome 14.

Diagnosis

Genetic testing for PIGH is available. Testing is considered research-grade for diagnosis.

Biomarker and diagnostic research for glycosylphosphatidylinositol biosynthesis defect 17 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 always present features, 12 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 17.

3 publications have been identified in PubMed for glycosylphosphatidylinositol biosynthesis defect 17. Research spans Diagnostic / Biomarker (33%), Case Report / Case Series (33%), and Basic Science / Preclinical (33%).

Recent Publications

Chen X (2025). [PMID: 40775679](https://pubmed.ncbi.nlm.nih.gov/40775679/). *BMC Genomics*. [Basic Science / Preclinical]
Niehues T (2024). [PMID: 39381601](https://pubmed.ncbi.nlm.nih.gov/39381601/). *Allergol Select*. [Diagnostic / Biomarker]
Feresin A (2024). [PMID: 39766333](https://pubmed.ncbi.nlm.nih.gov/39766333/). *Biomolecules*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 5:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618010

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 17

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

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