Log In|Sign Up
ENCri-Du-Chat Syndrome
Alias:
5p Partial Monosomy Syndrome
Monosomy 5p
Cri Du Chat Syndrome
Chromosome 5p Deletion Syndrome
5p Deletion Syndrome
Cat Cry Syndrome
Deletion 5p
Partial Deletion of Short Arm of Chromosome 5 Syndrome
Chromosome 5 Short Arm Deletion Syndrome
5p Partial Deletion Syndrome
Chromosome 5p- Syndrome
Chromosome 5p Deletion
5p- Syndrome
Cri Du Chat
Favorite
Cri-Du-Chat Syndrome, also known as 5p partial monosomy syndrome, is related to microcephaly and down syndrome. An important gene associated with Cri-Du-Chat Syndrome is CTNND2 (Catenin Delta 2), and among its related pathways/superpathways is Cell adhesion_Endothelial cell contacts by junctional mechanisms. Affiliated tissues include eye and heart, and related phenotypes are hypotonia and wide nasal bridge
Related ID：
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
Gene & Mutation
#
Gene
Function
Score
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
References Literature
Title
PMID
Journal
Year
IF
