Van Den Ende-Gupta Syndrome (VDEGS)

Alias:
Vdegs
Marden-Walker-Like Syndrome
Blepharophimosis, Arachnodactyly, and Congenital Contractures
Marden-Walker-Like Syndrome Without Psychomotor Retardation
Marden Walker Like Syndrome
Blepharophimosis Arachnodactyly and Congenital Contractures
Marden-Walker-Like Syndrome Without Psychmotor Retardation
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Van Den Ende-Gupta Syndrome, also known as vdegs, is related to congenital heart defects and skeletal malformations syndrome and chromosome 22q11.2 deletion syndrome, distal, and has symptoms including stridor An important gene associated with Van Den Ende-Gupta Syndrome is SCARF2 (Scavenger Receptor Class F Member 2), and among its related pathways/superpathways is 22q11.2 copy number variation syndrome. Affiliated tissues include bone and lung, and related phenotypes are sclerocornea and everted lower lip vermilion
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
16
97
13

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