GPIBD1
MCID: GLY112
MIFTS: 33
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Glycosylphosphatidylinositol Biosynthesis Defect 1 (GPIBD1)
Categories:
Blood diseases, Bone diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Glycosylphosphatidylinositol Biosynthesis Defect 1:
Characteristics:Orphanet epidemiological data:58
hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
onset of thrombosis by age 2 years HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Blood diseases Cardiovascular diseases Bone diseases Mental diseases
ICD10:
33
Orphanet: 58
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OMIM® :
57
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) (Updated 05-Mar-2021)
MalaCards based summary : Glycosylphosphatidylinositol Biosynthesis Defect 1, also known as glycosylphosphatidylinositol deficiency, is related to hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency and glucose phosphate isomerase deficiency. 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 splenomegaly and hepatomegaly UniProtKB/Swiss-Prot : 73 Glycosylphosphatidylinositol biosynthesis defect 1: An autosomal recessive disorder characterized by portal vein thrombosis and portal hypertension, absence seizures, macrocephaly, splenomegaly, cytopenias and early-onset cerebral infarctions. |
Human phenotypes related to Glycosylphosphatidylinositol Biosynthesis Defect 1:31 (show all 10)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:610293 (Updated 05-Mar-2021) |
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Articles related to Glycosylphosphatidylinositol Biosynthesis Defect 1:(show all 12)
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ClinVar genetic disease variations for Glycosylphosphatidylinositol Biosynthesis Defect 1:6
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Search
GEO
for disease gene expression data for Glycosylphosphatidylinositol Biosynthesis Defect 1.
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Cellular components related to Glycosylphosphatidylinositol Biosynthesis Defect 1 according to GeneCards Suite gene sharing:
Biological processes related to Glycosylphosphatidylinositol Biosynthesis Defect 1 according to GeneCards Suite gene sharing:
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