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

Alias:
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
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
7
39
13

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
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