Congenital Disorder of Glycosylation, Type Iic (CDG2C)

Alias:
Leukocyte Adhesion Deficiency Type Ii
Cdg2c
Congenital Disorder of Glycosylation Type Iic
Rambam-Hasharon Syndrome
Cdg Iic
Cdg-Iic
Cdgiic
Congenital Disorder of Glycosylation, Type 2c
Leukocyte Adhesion Deficiency, Type Ii
Leukocyte Adhesion Deficiency 2
Cdg Syndrome Type Iic
Lad-Ii
Lad2
Glycosylation, Congenital Disorder of, Type Iic
Congenital Disorder of Glycosylation 2c
Leukocyte Adhesion Deficiency Type 2
Rambam Hasharon Syndrome
Rhs
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Congenital Disorder of Glycosylation, Type Iic, also known as leukocyte adhesion deficiency type ii, is related to rapp-hodgkin syndrome and herpes zoster oticus, and has symptoms including seizures An important gene associated with Congenital Disorder of Glycosylation, Type Iic is SLC35C1 (Solute Carrier Family 35 Member C1), and among its related pathways/superpathways is Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell. Affiliated tissues include neutrophil and eye, and related phenotypes are failure to thrive and coarse facial features
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Child
<1/1000000
12
56
26

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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