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hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency

MONDO:0012465

Also known as:PIGM-CDGGPI deficiencyGPID

Overview

The combination of a propensity for venous thrombosis and seizures has been reported in two unrelated kindreds. Transmission is autosomal recessive. It results from a point mutation of PIGM, which reduces transcription of PIGM and blocks mannosylation of glycosylphosphatidylinositol (GPI), leading to partial but severe deficiency of GPI.

GeneticsAutosomal recessive · PIGM (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 common findings: Delayed speech and language development, Generalized non-motor (absence) seizure, Atonic seizure, and Enlarged liver (hepatomegaly) and others. 11 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	3	Delayed speech and language development, Generalized non-motor (absence) seizure, Atonic seizure

Genetic Landscape

PIGM function has not been fully characterized.

Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency has limited evidence linking it to mutations in the PIGM gene on chromosome 1.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

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

Biomarker and diagnostic research for hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency has been reported in the published literature.

Prognosis

Phenotype severity distribution: 7 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 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency.

13 publications have been identified in PubMed for hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency. Research spans Case Report / Case Series (54%), Review / Meta-Analysis (15%), and Gene Therapy / Novel Therapeutics (15%).

Research Type	Count	% of Total
Patient case studies	7	54%

Data assembled from 7 of 12 sources · Last updated Sep 20, 2026, 9:35 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:610293

Orphanet

European rare disease database

Orphanet:83639

GARD

Genetic and Rare Diseases Info Center

GARD:9965

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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Kisho

hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency

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

hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency

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