Congenital Disorder of Glycosylation, Type Iir (CDG2R)

Alias:
Cdg2r
Congenital Disorder of Glycosylation 2r
Cdg Iir
Cdgiir
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Congenital Disorder of Glycosylation, Type Iir, is also known as cdg2r. An important gene associated with Congenital Disorder of Glycosylation, Type Iir is ATP6AP2 (ATPase H+ Transporting Accessory Protein 2). Affiliated tissues include liver and t cells, and related phenotypes are recurrent infections and cutis laxa
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XL
XLD
Unknown
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1
8
1

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

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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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