Sengers Syndrome (MTDPS10)

Alias:
Mitochondrial Dna Depletion Syndrome 10
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cardiomyopathy and Cataract
Cataract and Cardiomyopathy
Mtdps10
Cataract Cardiomyopathy
Senger Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Sengers Syndrome, also known as mitochondrial dna depletion syndrome 10, is related to lactic acidosis and myopathy, and has symptoms including fatigue and muscle weakness. An important gene associated with Sengers Syndrome is AGK (Acylglycerol Kinase), and among its related pathways/superpathways is Peroxisomal lipid metabolism. Affiliated tissues include skeletal muscle and eye, and related phenotypes are nystagmus and cataract
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
38
141
20

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
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IF
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