Congenital Disorder of Glycosylation, Type Iaa (CDG1AA)

Alias:
Congenital Disorder of Glycosylation, Type 1aa
Congenital Disorder of Glycosylation 1aa
Cdg1aa
Glycosylation, Congenital Disorder of, Type Iaa
Congenital Disorder of Glycosylation Iaa
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Congenital Disorder of Glycosylation, Type Iaa, is also known as congenital disorder of glycosylation, type 1aa. An important gene associated with Congenital Disorder of Glycosylation, Type Iaa is NUS1 (NUS1 Dehydrodolichyl Diphosphate Synthase Subunit). Related phenotypes are scoliosis and hearing impairment
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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1
6
4

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
Year
IF
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