Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus (WRS)

Alias:
Wolcott-Rallison Syndrome
Wrs
Early-Onset Diabetes Mellitus with Multiple Epiphyseal Dysplasia
Med-Iddm Syndrome
Iddm-Med Syndrome
Multiple Epiphyseal Dysplasia with Early-Onset Diabetes Mellitus
Wolcott-Rallison Dysplasia
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus, also known as wolcott-rallison syndrome, is related to diabetes mellitus, ketosis-prone and neonatal diabetes. An important gene associated with Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus is EIF2AK3 (Eukaryotic Translation Initiation Factor 2 Alpha Kinase 3), and among its related pathways/superpathways are Cellular responses to stimuli and Toll-like receptor signaling pathway. The drugs Autoantibodies and Immunoglobulins have been mentioned in the context of this disorder. Affiliated tissues include bone and liver, and related phenotypes are skeletal dysplasia and short stature
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
26
257
11

Medical Symptom

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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

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PMID
Journal
Year
IF
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