Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 (MCAHS3)

Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3(来自ICD-11)

别称:

M Syndrome

Glycosylphosphatidylinositol Biosynthesis Defect 7

Light Fixation Seizure Syndrome

Mcahs3

Gpibd7

Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome

Multiple Congenital Anomalies, Hypotonia, Seizures Syndrome, Type 3

Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 3

Congenital Disorder of Glycosylation Due to Pigt Deficiency

Mcahs Type 3

Pigt-Cdg

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3, also known as m syndrome, is related to cd40 ligand deficiency and immunodeficiency with hyper-igm, type 1, and has symptoms including seizures An important gene associated with Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 is PIGT (Phosphatidylinositol Glycan Anchor Biosynthesis Class T), and among its related pathways/superpathways are Allograft rejection and Extrafollicular and follicular B cell activation by SARS-CoV-2. The drugs Immunoglobulin G and Immunoglobulins have been mentioned in the context of this disorder. Affiliated tissues include bone and heart, and related phenotypes are nystagmus and osteopenia

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