Hypercoagulability Syndrome Due to Glycosylphosphatidylinositol Deficiency

Alias:
Congenital Disorder of Glycosylation Due to Pigm Deficiency
Pigm-Cdg
Glycosylphosphatidylinositol Deficiency
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hypercoagulability Syndrome Due to Glycosylphosphatidylinositol Deficiency, also known as congenital disorder of glycosylation due to pigm deficiency, is related to glycosylphosphatidylinositol biosynthesis defect 1 and coloboma, congenital heart disease, ichthyosiform dermatosis, impaired intellectual development, and ear anomalies syndrome, and has symptoms including absence seizures An important gene associated with Hypercoagulability Syndrome Due to Glycosylphosphatidylinositol Deficiency is PIGM (Phosphatidylinositol Glycan Anchor Biosynthesis Class M), and among its related pathways/superpathways is Post-translational modification: synthesis of GPI-anchored proteins. Affiliated tissues include brain.
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
<1/1000000
2
7
4

Medical Symptom

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No data available

Gene & Mutation

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Disease Model

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MGI
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References Literature

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