C Syndrome (CSYN)

Alias:
Opitz Trigonocephaly Syndrome
Trigonocephaly
Opitz Trigonocephaly C Syndrome
Trigonocephaly C Syndrome
Opitz C Trigonocephaly
Otcs
Trigonocephaly Syndrome
Csyn
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
C Syndrome, also known as opitz trigonocephaly syndrome, is related to mucopolysaccharidosis, type ii and mucopolysaccharidosis-plus syndrome, and has symptoms including seizures An important gene associated with C Syndrome is CD96 (CD96 Molecule), and among its related pathways/superpathways are Plasma lipoprotein assembly, remodeling, and clearance and Cholesterol metabolism. Affiliated tissues include skin and bone, and related phenotypes are intellectual disability and high palate
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Antenatal
1-9/1000000
30
363
20

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!
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