Larsen Syndrome (LRS)

Alias:
Lrs
Larsen Syndrome, Dominant Type
Dominant Larsen Syndrome
Larsens Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Larsen Syndrome, also known as lrs, is related to desbuquois dysplasia 1 and multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects. An important gene associated with Larsen Syndrome is FLNB (Filamin B), and among its related pathways/superpathways are Infectious disease and Metabolism. Affiliated tissues include spinal cord and bone, and related phenotypes are depressed nasal bridge and hypertelorism
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
1-9/1000000
30
203
23

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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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
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