Congenital Disorder of Glycosylation, Type Iif (CDG2F)

Alias:
Congenital Disorder of Glycosylation Type Iif
Cdg2f
Cdg Iif
Carbohydrate Deficient Glycoprotein Syndrome Type Iif
Cmp-Sialic Acid Transporter Deficiency
Slc35a1-Cdg
Cdg-Iif
Cdgiif
Glycosylation, Congenital Disorder of, Type Iif
Congenital Disorder of Glycosylation Type 2f
Slc35a1-Congenital Disorder of Glycosylation
Congenital Disorder of Glycosylation 2f
Cdg Syndrome Type Iif
Cdgiidf
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Congenital Disorder of Glycosylation, Type Iif, also known as congenital disorder of glycosylation type iif, is related to congenital disorder of glycosylation, type ih and rafiq syndrome. An important gene associated with Congenital Disorder of Glycosylation, Type Iif is SLC35A1 (Solute Carrier Family 35 Member A1), and among its related pathways/superpathways are Metabolism of proteins and Infectious disease. Affiliated tissues include neutrophil and bone marrow, and related phenotypes are thrombocytopenia and cellulitis
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
15
60
6

Medical Symptom

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

Gene & Mutation

#
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

Title
PMID
Journal
Year
IF
No Data Found!
Wechat
Comparison
Al agent
Tutorials
Back to top