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Singleton-Merten Dysplasia

Alias:
Singleton-Merten Syndrome
Singleton Merten Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Singleton-Merten Dysplasia, also known as singleton-merten syndrome, is related to aicardi-goutieres syndrome and psoriasis. An important gene associated with Singleton-Merten Dysplasia is IFIH1 (Interferon Induced With Helicase C Domain 1), and among its related pathways/superpathways are Toll-like receptor signaling pathway and Deubiquitination. Affiliated tissues include bone and heart.
Related ID：
MALACARDS：SNG008

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
Unknown
<1/1000000
1
10
--
SNG008

Medical Symptom

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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!
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