Marshall-Smith Syndrome (MRSHSS)

Alias:
Accelerated Skeletal Maturation-Facial Dysmorphism-Failure to Thrive Syndrome
Mrshss
Mss
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Marshall-Smith Syndrome, also known as accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome, is related to weaver syndrome and megalocornea, and has symptoms including apnea An important gene associated with Marshall-Smith Syndrome is NFIX (Nuclear Factor I X), and among its related pathways/superpathways are RNA Polymerase III Transcription Initiation and Pathways affected in adenoid cystic carcinoma. Affiliated tissues include bone and eye, and related phenotypes are intellectual disability and failure to thrive
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
<1/1000000
13
125
34

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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