Glycosylphosphatidylinositol Biosynthesis Defect 1 (GPIBD1)

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OMIM 56 610293 ICD10 via Orphanet 33 E88.8 UMLS via Orphanet 72 C1853205

Orphanet 58 ORPHA83639 MedGen 41 C1853205 SNOMED-CT via HPO 68 111293003 128613002 16294009 17920008 189198006 230413002 246545002 258211005 313307000 34742003 38739001 42365007 432241000124101 50866000 79631006 80515008 84757009 91175000 more

OMIM : ⁵⁶ Glycosylphosphatidylinositol is a glycolipid that anchors more than 150 proteins to the cell surface, and these proteins, termed GPI-anchored proteins (GPI-APs), perform a variety of functions as enzymes, adhesion molecules, complement regulators, and coreceptors in signal transduction pathways. Reduced surface levels of GPI-APs or abnormal GPI-AP structure can therefore result in variable manifestations. Glycosylphosphatidylinositol biosynthesis defect-1 (GPIBD1) is characterized predominantly by portal hypertension due to portal vein thrombosis. Most patients have absence seizures, cerebral thrombosis, and macrocephaly. Some patients have mildly to moderately impaired intellectual development (summary by Makrythanasis et al., 2016; Pode-Shakked et al., 2019). (610293)

MalaCards based summary : Glycosylphosphatidylinositol Biosynthesis Defect 1, also known as glycosylphosphatidylinositol deficiency, is related to hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency and hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, and has symptoms including absence seizures An important gene associated with Glycosylphosphatidylinositol Biosynthesis Defect 1 is PIGM (Phosphatidylinositol Glycan Anchor Biosynthesis Class M), and among its related pathways/superpathways are Post-translational modification- synthesis of GPI-anchored proteins and Glycosylphosphatidylinositol (GPI)-anchor biosynthesis. Related phenotypes are seizures and splenomegaly

UniProtKB/Swiss-Prot : ⁷³ Glycosylphosphatidylinositol deficiency: Autosomal recessive trait that results in a propensity to venous thrombosis and seizures. Deficiency is due to a point mutation in the regulatory sequences of PIGM that disrupts binding of the transcription factor SP1 to its cognate promoter motif, leading to a strong reduction of expression.

Clinical features from OMIM:

610293

Search Clinical Trials , NIH Clinical Center for Glycosylphosphatidylinositol Biosynthesis Defect 1

Search GEO for disease gene expression data for Glycosylphosphatidylinositol Biosynthesis Defect 1.