Hyperphosphatasia-Intellectual Disability Syndrome

Alias:
Hyperphosphatasia with Mental Retardation
Mabry Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hyperphosphatasia-Intellectual Disability Syndrome, also known as hyperphosphatasia with mental retardation, is related to hyperphosphatasia with impaired intellectual development syndrome 1 and hyperphosphatasia with impaired intellectual development syndrome, and has symptoms including seizures An important gene associated with Hyperphosphatasia-Intellectual Disability Syndrome is PIGO (Phosphatidylinositol Glycan Anchor Biosynthesis Class O), and among its related pathways/superpathways are Metabolism of proteins and Post-translational modification: synthesis of GPI-anchored proteins. Affiliated tissues include bone and heart, and related phenotypes are seizure and global developmental delay
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
7
27
5

Medical Symptom

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

Gene & Mutation

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Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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