Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency

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Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency

Synonyms: Congenital disorder of glycosylation due to PIGM deficiency | PIGM-CDG

A rare congenital disorder of glycosylation characterized by cerebral and portal vein thrombosis portal hypertension macrocephaly and persistent absence seizures. Additional reported features include mild to moderate global developmental delay and intellectual disability as well as thrombocytopenia. Brain imaging may show variable stages of infarction and cerebral and cerebellar atrophy.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.

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Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency?

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Advocacy Organizations


Our mission is to promote greater awareness and understanding of CDG & NGLY1-Deficiency, to provide information and support to families affected by CDG & NGLY1, and to advocate for and fund scientific research to advance the diagnosis and treatment of CDG & NGLY1-Deficiency.

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Youth and Women for Opportunities Uganda-YWOU

Youth and Women for Opportunities-YWOU an organization that we represent is patient organization re-presentative, patient and institution and individual capacity builder supporting PLWRD’s to obtain diagnosis, treatment and drugs for those suffering consequences of being undiagnosed or misdiagnosed and lack treatment and those who lack precise diagnosis for rare, orphan and undiagnosed diseases preventing PLWRD’s accessing the most adapted care, treatment or surgery, have delayed access to the most appropriate care, treatment or surgery

Clinical Trials

For a list of clinical trials in this disease area, please click here.