Log In|Sign Up
ENLoeys-Dietz Syndrome 5 (LDS5)
Alias:
Rienhoff Syndrome
Lds5
Rnhf
Loeys-Dietz Syndrome, Type 5
Reinhoff Syndrome
Favorite
Loeys-Dietz Syndrome 5, also known as rienhoff syndrome, is related to loeys-dietz syndrome 1 and pulsating exophthalmos. An important gene associated with Loeys-Dietz Syndrome 5 is TGFB3 (Transforming Growth Factor Beta 3), and among its related pathways/superpathways are ERK Signaling and Signal Transduction. Affiliated tissues include heart and skin, and related phenotypes are ptosis and hypotonia
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
