Potocki-Shaffer Syndrome (POSHS)
Alias:
Proximal 11p Deletion Syndrome
Chromosome 11p11.2 Deletion Syndrome
11p11.2 Deletion
P11pds
Pss
Defect11 Syndrome
Poshs
Basic Information
Medical Symptom
Gene & Mutation
Drugs
Disease Model
References
Potocki-Shaffer Syndrome, also known as proximal 11p deletion syndrome, is related to systemic scleroderma and parietal foramina. An important gene associated with Potocki-Shaffer Syndrome is PSS (Potocki-Shaffer Syndrome), and among its related pathways/superpathways are NF-kappaB Signaling and IL27-mediated signaling events. Affiliated tissues include bone and heart, and related phenotypes are global developmental delay and brachycephaly
Basic Information
Inheritance
Age Of Onset
Prevalence
Related Gene
Related Models
Reference
MALACARDS
AD
Newborn
<1/1000000
3
10
17
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
#
Gene
Function
Score
Count
No data available
Drugs
Name
CAS Number
Status
Phase
No data available
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available
References
Title
PMID
Journal
Year
IF
No Data Found!
Comparison
Al agent
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