The goal of this observational study is to describe the natural history of imprinting disorders (IDs) according to their metabolic profile in all patients (adults and children) affected with an ID regardless of the severity of the disease, with a molecular characterization, with a signed informed consent for all subjects, followed in one partner's center.
The main questions it aims to answer are:
* Can we identify common metabolic profiles for all imprinted diseases? * Which imprinting disorders have an impact on the metabolic profiles of IDs? * Which are the metabolic risks associated to IDs? * Can we use the metabolic profiles for the clinical classification and prognosis of IDs? * Are there common therapeutic approaches for all IDs?
Patients (adults and children) affected with an ID regardless of the severity of the disease
A confirmed diagnosis of ID (based on molecular diagnosis)
A signed informed consent for adults or signed informed consent of parents/guardians of minors/ protected adult.
None
All patients (adults and children) affected with an ID regardless of the severity of the disease, with a molecular characterization, with a signed informed consent for all subjects, followed in one partner's center.
Cohort
Other
Not listed
The clinical characteristics of IDs in pediatric and adult's patients.
The genetic characteristics of IDs in pediatric and adult's patients.
The biological characteristics of IDs in pediatric and adult's patients.
The morphometric characteristics of IDs in pediatric and adult's patients.
Search for an association between the metabolic phenotype of IDs patients' and their biological profil.
Determination of the prevalence of metabolic abnormalities (MA).
Estimation of the risk for metabolic complications such as obesity, diabetes, cardiovascular disease (CVD), metabolic syndrome.
Description of different therapeutic approaches and identification of a common base for all IDs.
Identification of different metabolic profile which allow a clinical classification of IDs.
Description and identification of the most relevant biological and clinical practices for diagnostic and follow-up of ID patients.
Identification of a group of French patients with the same characteristics.
Search of an association between blood metabolic markers, genetic pattern and gut microbiota.
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