Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome

Alias:
Pign-Cdg
Congenital Disorder of Glycosylation Due to Pign Deficiency
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome, also known as pign-cdg, is related to multiple congenital anomalies-hypotonia-seizures syndrome 4 and multiple congenital anomalies-hypotonia-seizures syndrome 3, and has symptoms including muscle spasticity, seizures and tremor. An important gene associated with Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome is PIGN (Phosphatidylinositol Glycan Anchor Biosynthesis Class N), and among its related pathways/superpathways are Metabolism of proteins and Post-translational modification: synthesis of GPI-anchored proteins. Affiliated tissues include heart and testis, and related phenotypes are seizure and nystagmus
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
12
67
60

Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Mutations
No data available

Related Drugs

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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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