Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome (MDPL)

Alias:
Mdp Syndrome
Mandibular Hypoplasia-Deafness-Progeroid Features-Lipodystrophy Syndrome
Mandibular Hypoplasia-Hearing Loss-Progeroid Syndrome
Mdpl Syndrome
Mdpl
Hypoplasia, Mandibular, Deafness, Progeroid Features, and Lipodystrophy Syndrome
Andibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome
Mandibular Hypoplasia-Deafness-Progeroid Syndrome
Lipodystrophy
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome, also known as mdp syndrome, is related to hutchinson-gilford progeria syndrome and werner syndrome, and has symptoms including decreased adipose tissue An important gene associated with Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome is POLD1 (DNA Polymerase Delta 1, Catalytic Subunit), and among its related pathways/superpathways are Glucose / Energy Metabolism and Mesenchymal Stem Cells and Lineage-specific Markers. The drugs Insulin glulisine and Zinc cation have been mentioned in the context of this disorder. Affiliated tissues include skin and skeletal muscle, and related phenotypes are sensorineural hearing impairment and cryptorchidism
Related ID:
MESH:D003638
ICD11:456876588/unspecified

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Child
<1/1000000
6
120
2

Medical Symptom

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

Gene & Mutation

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No data available

Related Drugs

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No data available

Disease Model

Category
Name
MGI
Related Gene
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Publications
No data available

References Literature

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PMID
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IF
No Data Found!
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