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glycosylphosphatidylinositol biosynthesis defect 15 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

glycosylphosphatidylinositol biosynthesis defect 15

MONDO:0060627

Also known as:GPIBD15developmental delay, epilepsy, cerebellar atrophy, and osteopenia

Overview

A rare, genetic, syndromic intellectual disability characterized by global developmental delay, early-onset seizures, cerebellar atrophy, osteopenia, nystagmus and dysmorphic facial features, including bitemporal narrowing, prominent forehead, anteverted nares. Dysarthria, dysmetria, ataxic gait, spasticity and dysmorphic features have also been associated.

GeneticsAutosomal recessive · GPAA1 (chr 8)

ResearchLimited published research (5 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: Dysmetria, Shrinkage of the cerebellum (cerebellar atrophy), Gait ataxia, and Low muscle tone (hypotonia) and others; and very common findings: Nystagmus and EEG abnormality. 27 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	13	Bilateral tonic-clonic seizure, Inability to walk, Gait ataxia

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.

GPAA1 encodes glycosylphosphatidylinositol anchor attachment 1 (621 aa). Component of the glycosylphosphatidylinositol-anchor (GPI-anchor) transamidase (GPI-T) complex that catalyzes the formation of the linkage between a proprotein and a GPI-anchor and participates in GPI anchored protein biosynthesis. Highest expression in Thyroid (151.4 TPM) and Uterus (137.7 TPM).

Glycosylphosphatidylinositol biosynthesis defect 15 is strongly associated with mutations in the GPAA1 gene on chromosome 8.

GPAA1 is classified as a druggable target (Kinase category) with score 0.0.

Diagnosis

Genetic testing for GPAA1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 8 always present features, 2 very common features, 9 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 glycosylphosphatidylinositol biosynthesis defect 15.

5 publications have been identified in PubMed for glycosylphosphatidylinositol biosynthesis defect 15. Research spans Basic Science / Preclinical (40%), Review / Meta-Analysis (20%), and Case Report / Case Series (20%).

Recent Publications

Huo Y (2025). [PMID: 39816685](https://pubmed.ncbi.nlm.nih.gov/39816685/). *Theranostics*. [Basic Science / Preclinical]
Gabaldon-Albero A (2024). [PMID: 38927738](https://pubmed.ncbi.nlm.nih.gov/38927738/). *Genes (Basel)*. [Case Report / Case Series]
Ranjan A (2024). [PMID: 38903302](https://pubmed.ncbi.nlm.nih.gov/38903302/). *Cureus*. [Review / Meta-Analysis]
Dai X (2024). [PMID: 39448635](https://pubmed.ncbi.nlm.nih.gov/39448635/). *Nat Commun*. [Basic Science / Preclinical]
Lam C (2024). [PMID: 38959600](https://pubmed.ncbi.nlm.nih.gov/38959600/). *Mol Genet Metab*. [Epidemiology / Natural History]

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 3:27 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617810

Orphanet

European rare disease database

Orphanet:529665

GARD

Genetic and Rare Diseases Info Center

GARD:17969

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 15

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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